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UniProtKB - P29400 (CO4A5_HUMAN)

Entry version 222 (16 Oct 2019)
Sequence version 2 (01 Feb 1994)
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Protein

Collagen alpha-5(IV) chain

Gene

COL4A5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1442490 Collagen degradation
R-HSA-1474244 Extracellular matrix organization
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-186797 Signaling by PDGF
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-216083 Integrin cell surface interactions
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils
R-HSA-3000157 Laminin interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8948216 Collagen chain trimerization
R-HSA-9010553 Regulation of expression of SLITs and ROBOs

SIGNOR Signaling Network Open Resource

More...SIGNORi		P29400

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Collagen alpha-5(IV) chain
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COL4A5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2207 COL4A5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		303630 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P29400

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Alport syndrome 1, X-linked (ATS1)22 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00191454G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886043EnsemblClinVar.1
Natural variantiVAR_007991114G → S in ATS1. 1
Natural variantiVAR_071932123G → E in ATS1. 1 Publication1
Natural variantiVAR_001915129G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.1
Natural variantiVAR_001916129G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.1
Natural variantiVAR_001917174G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886055EnsemblClinVar.1
Natural variantiVAR_011220177G → C in ATS1; presenting with dot-and-fleck retinopathy. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.1
Natural variantiVAR_001918177G → R in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.1
Natural variantiVAR_011221192G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886060EnsemblClinVar.1
Natural variantiVAR_011222204G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886063EnsemblClinVar.1
Natural variantiVAR_001919216G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886067EnsemblClinVar.1
Natural variantiVAR_001920219G → S in ATS1. Corresponds to variant dbSNP:rs104886075EnsemblClinVar.1
Natural variantiVAR_011223230G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886076EnsemblClinVar.1
Natural variantiVAR_011224239G → E in ATS1. Corresponds to variant dbSNP:rs104886068EnsemblClinVar.1
Natural variantiVAR_011225264G → R in ATS1; adult type. Corresponds to variant dbSNP:rs104886069EnsemblClinVar.1
Natural variantiVAR_001921289G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886450EnsemblClinVar.1
Natural variantiVAR_011226292G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886073EnsemblClinVar.1
Natural variantiVAR_001922292G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886078EnsemblClinVar.1
Natural variantiVAR_011227295G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886079EnsemblClinVar.1
Natural variantiVAR_011228298G → S in ATS1. Corresponds to variant dbSNP:rs104886080EnsemblClinVar.1
Natural variantiVAR_011229319G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886085EnsemblClinVar.1
Natural variantiVAR_001923325G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886091EnsemblClinVar.1
Natural variantiVAR_001924325G → R in ATS1; juvenile and adult types. 3 PublicationsCorresponds to variant dbSNP:rs104886088EnsemblClinVar.1
Natural variantiVAR_007992331G → V in ATS1. Corresponds to variant dbSNP:rs104886092EnsemblClinVar.1
Natural variantiVAR_001926365 – 367Missing in ATS1; juvenile type. 3
Natural variantiVAR_001925365G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886096EnsemblClinVar.1
Natural variantiVAR_001927371G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886097EnsemblClinVar.1
Natural variantiVAR_001928374G → A in ATS1. Corresponds to variant dbSNP:rs104886108EnsemblClinVar.1
Natural variantiVAR_001929383G → D in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886105EnsemblClinVar.1
Natural variantiVAR_001930400G → E in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886107EnsemblClinVar.1
Natural variantiVAR_001931406G → V in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886100EnsemblClinVar.1
Natural variantiVAR_001932409G → D in ATS1. Corresponds to variant dbSNP:rs104886101EnsemblClinVar.1
Natural variantiVAR_011230412G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886102EnsemblClinVar.1
Natural variantiVAR_011231415G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886103EnsemblClinVar.1
Natural variantiVAR_011232420G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874663EnsemblClinVar.1
Natural variantiVAR_011233420G → V in ATS1. 1 Publication1
Natural variantiVAR_011234423G → E in ATS1. Corresponds to variant dbSNP:rs104886110EnsemblClinVar.1
Natural variantiVAR_001935456 – 458Missing in ATS1. 1 Publication3
Natural variantiVAR_001936466G → E in ATS1. Corresponds to variant dbSNP:rs104886114EnsemblClinVar.1
Natural variantiVAR_007993472G → R in ATS1. Corresponds to variant dbSNP:rs104886116EnsemblClinVar.1
Natural variantiVAR_011235491G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886117EnsemblClinVar.1
Natural variantiVAR_001937494G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886118EnsemblClinVar.1
Natural variantiVAR_001938496 – 507Missing in ATS1; juvenile type. Add BLAST12
Natural variantiVAR_011236497G → C in ATS1; adult type. Corresponds to variant dbSNP:rs104886120EnsemblClinVar.1
Natural variantiVAR_001939521G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886121EnsemblClinVar.1
Natural variantiVAR_001940521G → S in ATS1. Corresponds to variant dbSNP:rs104886121EnsemblClinVar.1
Natural variantiVAR_011237524G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886119EnsemblClinVar.1
Natural variantiVAR_007994545G → R in ATS1. Corresponds to variant dbSNP:rs104886126EnsemblClinVar.1
Natural variantiVAR_007995545G → V in ATS1. Corresponds to variant dbSNP:rs104886127EnsemblClinVar.1
Natural variantiVAR_011238558G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886129EnsemblClinVar.1
Natural variantiVAR_007996561G → R in ATS1. Corresponds to variant dbSNP:rs104886136EnsemblClinVar.1
Natural variantiVAR_001941567G → A in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886137EnsemblClinVar.1
Natural variantiVAR_011239573G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886138EnsemblClinVar.1
Natural variantiVAR_011240579G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886130EnsemblClinVar.1
Natural variantiVAR_007997579G → R in ATS1; adult type. Corresponds to variant dbSNP:rs104886139EnsemblClinVar.1
Natural variantiVAR_011241603G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886133EnsemblClinVar.1
Natural variantiVAR_011242609G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886135EnsemblClinVar.1
Natural variantiVAR_001942609G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886140EnsemblClinVar.1
Natural variantiVAR_011244621G → C in ATS1. Corresponds to variant dbSNP:rs104886141EnsemblClinVar.1
Natural variantiVAR_011245624G → D in ATS1. 2 PublicationsCorresponds to variant dbSNP:rs104886142EnsemblClinVar.1
Natural variantiVAR_011246629G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886144EnsemblClinVar.1
Natural variantiVAR_011247632G → D in ATS1. Corresponds to variant dbSNP:rs104886145EnsemblClinVar.1
Natural variantiVAR_011248633E → K in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886146EnsemblClinVar.1
Natural variantiVAR_007998635G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs281874683EnsemblClinVar.1
Natural variantiVAR_001944638G → A in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.1
Natural variantiVAR_007999638G → S in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886147EnsemblClinVar.1
Natural variantiVAR_001943638G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.1
Natural variantiVAR_001945653G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886150EnsemblClinVar.1
Natural variantiVAR_008000669G → A in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886151EnsemblClinVar.1
Natural variantiVAR_011249681G → D in ATS1. Corresponds to variant dbSNP:rs104886158EnsemblClinVar.1
Natural variantiVAR_001947684G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886160EnsemblClinVar.1
Natural variantiVAR_008001687G → E in ATS1. Corresponds to variant dbSNP:rs104886168EnsemblClinVar.1
Natural variantiVAR_011250722G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886163EnsemblClinVar.1
Natural variantiVAR_011252739P → S in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar.1
Natural variantiVAR_001948740G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886165EnsemblClinVar.1
Natural variantiVAR_008002743G → D in ATS1. Corresponds to variant dbSNP:rs104886166EnsemblClinVar.1
Natural variantiVAR_001949772G → D in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886173EnsemblClinVar.1
Natural variantiVAR_001950796G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886177EnsemblClinVar.1
Natural variantiVAR_011254802 – 807Missing in ATS1. 1 Publication6
Natural variantiVAR_011253802G → R in ATS1. Corresponds to variant dbSNP:rs104886179EnsemblClinVar.1
Natural variantiVAR_008003808G → E in ATS1; adult type. Corresponds to variant dbSNP:rs104886180EnsemblClinVar.1
Natural variantiVAR_011255811G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886183EnsemblClinVar.1
Natural variantiVAR_008004822 – 824Missing in ATS1. 3
Natural variantiVAR_011256822G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886184EnsemblClinVar.1
Natural variantiVAR_008005852G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886187EnsemblClinVar.1
Natural variantiVAR_001951852G → R in ATS1. Corresponds to variant dbSNP:rs104886186EnsemblClinVar.1
Natural variantiVAR_011257864 – 875Missing in ATS1. 1 PublicationAdd BLAST12
Natural variantiVAR_001952866G → E in ATS1; adult type. Corresponds to variant dbSNP:rs104886188EnsemblClinVar.1
Natural variantiVAR_001953869G → R in ATS1; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs104886189EnsemblClinVar.1
Natural variantiVAR_001954872G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886190EnsemblClinVar.1
Natural variantiVAR_008006878G → R in ATS1. 1
Natural variantiVAR_011258898M → V in ATS1; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs104886192EnsemblClinVar.1
Natural variantiVAR_011259902G → V in ATS1; juvenile type. 1 Publication1
Natural variantiVAR_011260911G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886363EnsemblClinVar.1
Natural variantiVAR_011261941G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886196EnsemblClinVar.1
Natural variantiVAR_001955942Missing in ATS1. 1
Natural variantiVAR_011262947G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886370EnsemblClinVar.1
Natural variantiVAR_011263953G → V in ATS1; found on the same allele as variant Glu-1211. 1 PublicationCorresponds to variant dbSNP:rs78972735EnsemblClinVar.1
Natural variantiVAR_008007988 – 992Missing in ATS1; adult type. 5
Natural variantiVAR_0112641006G → A in ATS1. 1 Publication1
Natural variantiVAR_0112651006G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886202EnsemblClinVar.1
Natural variantiVAR_0112661015G → E in ATS1. 1
Natural variantiVAR_0112671015G → V in ATS1. Corresponds to variant dbSNP:rs104886211EnsemblClinVar.1
Natural variantiVAR_0112681030G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886210EnsemblClinVar.1
Natural variantiVAR_0112691036G → V in ATS1. Corresponds to variant dbSNP:rs104886212EnsemblClinVar.1
Natural variantiVAR_0112701039G → S in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886214EnsemblClinVar.1
Natural variantiVAR_0112711045G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886215EnsemblClinVar.1
Natural variantiVAR_0112721066G → R in ATS1. Corresponds to variant dbSNP:rs104886219EnsemblClinVar.1
Natural variantiVAR_0112731066G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886219EnsemblClinVar.1
Natural variantiVAR_0112741086G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886232EnsemblClinVar.1
Natural variantiVAR_0019561104G → V in ATS1. Corresponds to variant dbSNP:rs104886224EnsemblClinVar.1
Natural variantiVAR_0080081107G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886225EnsemblClinVar.1
Natural variantiVAR_0019571143G → D in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886229EnsemblClinVar.1
Natural variantiVAR_0019581143G → S in ATS1; adult type. Corresponds to variant dbSNP:rs104886228EnsemblClinVar.1
Natural variantiVAR_0112751158G → R in ATS1. 1 Publication1
Natural variantiVAR_0080091161G → R in ATS1. Corresponds to variant dbSNP:rs104886235EnsemblClinVar.1
Natural variantiVAR_0112761167G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886236EnsemblClinVar.1
Natural variantiVAR_0112771170G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886237EnsemblClinVar.1
Natural variantiVAR_0019591182G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886242EnsemblClinVar.1
Natural variantiVAR_0112781196G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886244EnsemblClinVar.1
Natural variantiVAR_0112791205G → C in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886245EnsemblClinVar.1
Natural variantiVAR_0112801211G → E in ATS1; found on the same allele as variant Val-953. Corresponds to variant dbSNP:rs104886247EnsemblClinVar.1
Natural variantiVAR_0080101211G → R in ATS1. Corresponds to variant dbSNP:rs104886246EnsemblClinVar.1
Natural variantiVAR_0080111220G → D in ATS1. Corresponds to variant dbSNP:rs104886251EnsemblClinVar.1
Natural variantiVAR_0112811229G → D in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886253EnsemblClinVar.1
Natural variantiVAR_0019601241G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886255EnsemblClinVar.1
Natural variantiVAR_0112821244G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886261EnsemblClinVar.1
Natural variantiVAR_0112831252G → S in ATS1; adult type. Corresponds to variant dbSNP:rs104886262EnsemblClinVar.1
Natural variantiVAR_0112841261G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886264EnsemblClinVar.1
Natural variantiVAR_0019611270G → S in ATS1. Corresponds to variant dbSNP:rs104886257EnsemblClinVar.1
Natural variantiVAR_0080121333G → S in ATS1. Corresponds to variant dbSNP:rs104886266EnsemblClinVar.1
Natural variantiVAR_0112851357G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886267EnsemblClinVar.1
Natural variantiVAR_0019621379G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886269EnsemblClinVar.1
Natural variantiVAR_0019631410R → C in ATS1; adult and juvenile types. 1 PublicationCorresponds to variant dbSNP:rs104886270EnsemblClinVar.1
Natural variantiVAR_0019641421G → W in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886272EnsemblClinVar.1
Natural variantiVAR_0019651422R → C in ATS1; juvenile type. Corresponds to variant dbSNP:rs144282156EnsemblClinVar.1
Natural variantiVAR_0080131427G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886274EnsemblClinVar.1
Natural variantiVAR_0080141442G → D in ATS1. Corresponds to variant dbSNP:rs104886277EnsemblClinVar.1
Natural variantiVAR_0019661451G → S in ATS1. Corresponds to variant dbSNP:rs104886280EnsemblClinVar.1
Natural variantiVAR_0080151486G → A in ATS1; adult type. Corresponds to variant dbSNP:rs104886282EnsemblClinVar.1
Natural variantiVAR_0112871488S → F in ATS1. Corresponds to variant dbSNP:rs104886283EnsemblClinVar.1
Natural variantiVAR_0019671498A → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886284EnsemblClinVar.1
Natural variantiVAR_0112881511R → H in ATS1; juvenile type; could be a non pathogenic variant. 1 PublicationCorresponds to variant dbSNP:rs104886285EnsemblClinVar.1
Natural variantiVAR_0019681517P → T in ATS1; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs201220208EnsemblClinVar.1
Natural variantiVAR_0019691538W → S in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886293EnsemblClinVar.1
Natural variantiVAR_0019701563R → Q in ATS1. 1 PublicationCorresponds to variant dbSNP:rs281874743EnsemblClinVar.1
Natural variantiVAR_0019711564C → S in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886287EnsemblClinVar.1
Natural variantiVAR_0112891567C → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886288EnsemblClinVar.1
Natural variantiVAR_0019721596G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886297EnsemblClinVar.1
Natural variantiVAR_0195941597 – 1685Missing in ATS1. 1 PublicationAdd BLAST89
Natural variantiVAR_0019731649L → R in ATS1; adult type. 3 PublicationsCorresponds to variant dbSNP:rs104886303EnsemblClinVar.1
Natural variantiVAR_0112901677R → P in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar.1
Natural variantiVAR_0019741677R → Q in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar.1
Natural variantiVAR_0112911678C → W in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886311EnsemblClinVar.1
Natural variantiVAR_0195951679 – 1685Missing in ATS1. 7
Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).

Keywords - Diseasei

Alport syndrome, Deafness, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		1287

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		COL4A5

MalaCards human disease database

More...MalaCardsi		COL4A5
MIMi301050 phenotype

Open Targets

More...OpenTargetsi		ENSG00000188153

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		97562 NON RARE IN EUROPE: Benign familial hematuria
88917 X-linked Alport syndrome
1018 X-linked Alport syndrome-diffuse leiomyomatosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26722

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P29400

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2364188

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		COL4A5

Domain mapping of disease mutations (DMDM)

More...DMDMi		461675

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 26Sequence analysisAdd BLAST26
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000585227 – 1685Collagen alpha-5(IV) chainAdd BLAST1659

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi125N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi451InterchainPROSITE-ProRule annotation
Disulfide bondi481InterchainPROSITE-ProRule annotation
Disulfide bondi484InterchainPROSITE-ProRule annotation
Disulfide bondi1476 ↔ 1567Or C-1476 with C-1564PROSITE-ProRule annotation
Disulfide bondi1509 ↔ 1564Or C-1509 with C-1567PROSITE-ProRule annotation
Disulfide bondi1521 ↔ 1527PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki1549S-Lysyl-methionine sulfilimine (Met-Lys) (interchain with K-1667)By similarity
Disulfide bondi1586 ↔ 1681Or C-1586 with C-1678PROSITE-ProRule annotation
Disulfide bondi1620 ↔ 1678Or C-1620 with C-1681PROSITE-ProRule annotation
Disulfide bondi1632 ↔ 1638PROSITE-ProRule annotation
Cross-linki1667S-Lysyl-methionine sulfilimine (Lys-Met) (interchain with M-1549)By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.
The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P29400

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P29400

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P29400

MaxQB - The MaxQuant DataBase

More...MaxQBi		P29400

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P29400

PeptideAtlas

More...PeptideAtlasi		P29400

PRoteomics IDEntifications database

More...PRIDEi		P29400

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54566 [P29400-1]
54567 [P29400-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P29400

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P29400

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform 2 is found in kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000188153 Expressed in 214 organ(s), highest expression level in esophagus

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P29400 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P29400 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA065449

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		107684, 23 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1724 Collagen type IV trimer variant 2
CPX-1725 Collagen type IV trimer variant 3

Protein interaction database and analysis system

More...IntActi		P29400, 45 interactors

Molecular INTeraction database

More...MINTi		P29400

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000331902

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11685
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P29400

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1461 – 1685Collagen IV NC1PROSITE-ProRule annotationAdd BLAST225

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni27 – 41Nonhelical region (NC2)Add BLAST15
Regioni42 – 1456Triple-helical regionAdd BLAST1415

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the type IV collagen family.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162034

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000085652

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P29400

KEGG Orthology (KO)

More...KOi		K06237

Identification of Orthologs from Complete Genome Data

More...OMAi		DGNDYAH

Database of Orthologous Groups

More...OrthoDBi		1010560at2759

TreeFam database of animal gene trees

More...TreeFami		TF344135

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.170.240.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008160 Collagen
IPR001442 Collagen_IV_NC
IPR036954 Collagen_IV_NC_sf
IPR016187 CTDL_fold

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01413 C4, 2 hits
PF01391 Collagen, 20 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00111 C4, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56436 SSF56436, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51403 NC1_IV, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P29400-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER 
        60         70         80         90        100
GFPGLEGHPG LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF 
       110        120        130        140        150
PGTPGLPGMP GHDGAPGPQG IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG 
       160        170        180        190        200
IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG IQGLPGPTGI PGPIGPPGPP 
       210        220        230        240        250
GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP PGQISEQKRP 
       260        270        280        290        300
IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP 
       310        320        330        340        350
GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG 
       360        370        380        390        400
TGITIGEKGN IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG 
       410        420        430        440        450
FPGERGQKGD EGPPGISIPG PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI 
       460        470        480        490        500
CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT CFNCIGTGIS GPPGQPGLPG 
       510        520        530        540        550
LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF PGSKGEPGDI 
       560        570        580        590        600
LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG 
       610        620        630        640        650
ERGPPGNPGL PGLPGNIGPM GPPGFGPPGP VGEKGIQGVA GNPGQPGIPG 
       660        670        680        690        700
PKGDPGQTIT QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE 
       710        720        730        740        750
PGIPGIGLPG PPGPKGFPGI PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE 
       760        770        780        790        800
PGFALPGPPG PPGLPGFKGA LGPKGDRGFP GPPGPPGRTG LDGLPGPKGD 
       810        820        830        840        850
VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG IPGEKGDPGP 
       860        870        880        890        900
PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM 
       910        920        930        940        950
MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG 
       960        970        980        990       1000
PPGPMDPNLL GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG 
      1010       1020       1030       1040       1050
LPGPPGPKGN PGLPGQPGLI GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP 
      1060       1070       1080       1090       1100
GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG PKGEPGLPGY PGNPGIKGSV 
      1110       1120       1130       1140       1150
GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG NPGLPGEPGP 
      1160       1170       1180       1190       1200
VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL 
      1210       1220       1230       1240       1250
SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP 
      1260       1270       1280       1290       1300
KGNPGPQGPP GRPGLPGPEG PPGLPGNGGI KGEKGNPGQP GLPGLPGLKG 
      1310       1320       1330       1340       1350
DQGPPGLQGN PGRPGLNGMK GDPGLPGVPG FPGMKGPSGV PGSAGPEGEP 
      1360       1370       1380       1390       1400
GLIGPPGPPG LPGPSGQSII IKGDAGPPGI PGQPGLKGLP GPQGPQGLPG 
      1410       1420       1430       1440       1450
PTGPPGDPGR NGLPGFDGAG GRKGDPGLPG QPGTRGLDGP PGPDGLQGPP 
      1460       1470       1480       1490       1500
GPPGTSSVAH GFLITRHSQT TDAPQCPQGT LQVYEGFSLL YVQGNKRAHG 
      1510       1520       1530       1540       1550
QDLGTAGSCL RRFSTMPFMF CNINNVCNFA SRNDYSYWLS TPEPMPMSMQ 
      1560       1570       1580       1590       1600
PLKGQSIQPF ISRCAVCEAP AVVIAVHSQT IQIPHCPQGW DSLWIGYSFM 
      1610       1620       1630       1640       1650
MHTSAGAEGS GQALASPGSC LEEFRSAPFI ECHGRGTCNY YANSYSFWLA 
      1660       1670       1680 
TVDVSDMFSK PQSETLKAGD LRTRISRCQV CMKRT
Length:1,685
Mass (Da):161,044
Last modified:February 1, 1994 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4450A6762F12A626
GO
Isoform 2 (identifier: P29400-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1264-1264: G → GPTGFQG

Note: Contains 2 extra G-X-X repeats into the triple-helix domain.
Show »
Length:1,691
Mass (Da):161,632
Checksum:iE45612A1C153D123
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y998H0Y998_HUMAN
Collagen alpha-5(IV) chain
COL4A5
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q49AM6Q49AM6_HUMAN
COL4A5 protein
COL4A5
695Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9H0H0Y9H0_HUMAN
Collagen alpha-5(IV) chain
COL4A5
174Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9R8H0Y9R8_HUMAN
Collagen alpha-5(IV) chain
COL4A5
73Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5W0A0A2R8Y5W0_HUMAN
Collagen alpha-5(IV) chain
COL4A5
40Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti440 – 441AG → GS in AAA99480 (PubMed:2380186).Curated2
Sequence conflicti625 – 628FGPP → LALQ in AAA99480 (PubMed:2380186).Curated4
Sequence conflicti667 – 668LP → FR in AAA99480 (PubMed:2380186).Curated2
Sequence conflicti888A → R in AAA99480 (PubMed:2380186).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00191454G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886043EnsemblClinVar.1
Natural variantiVAR_007991114G → S in ATS1. 1
Natural variantiVAR_071932123G → E in ATS1. 1 Publication1
Natural variantiVAR_001915129G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.1
Natural variantiVAR_001916129G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874723EnsemblClinVar.1
Natural variantiVAR_001917174G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886055EnsemblClinVar.1
Natural variantiVAR_011220177G → C in ATS1; presenting with dot-and-fleck retinopathy. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.1
Natural variantiVAR_001918177G → R in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886056EnsemblClinVar.1
Natural variantiVAR_011221192G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886060EnsemblClinVar.1
Natural variantiVAR_011222204G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886063EnsemblClinVar.1
Natural variantiVAR_001919216G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886067EnsemblClinVar.1
Natural variantiVAR_001920219G → S in ATS1. Corresponds to variant dbSNP:rs104886075EnsemblClinVar.1
Natural variantiVAR_011223230G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886076EnsemblClinVar.1
Natural variantiVAR_011224239G → E in ATS1. Corresponds to variant dbSNP:rs104886068EnsemblClinVar.1
Natural variantiVAR_011225264G → R in ATS1; adult type. Corresponds to variant dbSNP:rs104886069EnsemblClinVar.1
Natural variantiVAR_001921289G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886450EnsemblClinVar.1
Natural variantiVAR_011226292G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886073EnsemblClinVar.1
Natural variantiVAR_001922292G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886078EnsemblClinVar.1
Natural variantiVAR_011227295G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886079EnsemblClinVar.1
Natural variantiVAR_011228298G → S in ATS1. Corresponds to variant dbSNP:rs104886080EnsemblClinVar.1
Natural variantiVAR_011229319G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886085EnsemblClinVar.1
Natural variantiVAR_001923325G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886091EnsemblClinVar.1
Natural variantiVAR_001924325G → R in ATS1; juvenile and adult types. 3 PublicationsCorresponds to variant dbSNP:rs104886088EnsemblClinVar.1
Natural variantiVAR_007992331G → V in ATS1. Corresponds to variant dbSNP:rs104886092EnsemblClinVar.1
Natural variantiVAR_001926365 – 367Missing in ATS1; juvenile type. 3
Natural variantiVAR_001925365G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886096EnsemblClinVar.1
Natural variantiVAR_001927371G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886097EnsemblClinVar.1
Natural variantiVAR_001928374G → A in ATS1. Corresponds to variant dbSNP:rs104886108EnsemblClinVar.1
Natural variantiVAR_001929383G → D in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886105EnsemblClinVar.1
Natural variantiVAR_001930400G → E in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886107EnsemblClinVar.1
Natural variantiVAR_001931406G → V in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886100EnsemblClinVar.1
Natural variantiVAR_001932409G → D in ATS1. Corresponds to variant dbSNP:rs104886101EnsemblClinVar.1
Natural variantiVAR_011230412G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886102EnsemblClinVar.1
Natural variantiVAR_011231415G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886103EnsemblClinVar.1
Natural variantiVAR_011232420G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs281874663EnsemblClinVar.1
Natural variantiVAR_011233420G → V in ATS1. 1 Publication1
Natural variantiVAR_011234423G → E in ATS1. Corresponds to variant dbSNP:rs104886110EnsemblClinVar.1
Natural variantiVAR_001933430A → D1 PublicationCorresponds to variant dbSNP:rs142883891EnsemblClinVar.1
Natural variantiVAR_001934444I → S3 PublicationsCorresponds to variant dbSNP:rs2272946EnsemblClinVar.1
Natural variantiVAR_001935456 – 458Missing in ATS1. 1 Publication3
Natural variantiVAR_001936466G → E in ATS1. Corresponds to variant dbSNP:rs104886114EnsemblClinVar.1
Natural variantiVAR_007993472G → R in ATS1. Corresponds to variant dbSNP:rs104886116EnsemblClinVar.1
Natural variantiVAR_011235491G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886117EnsemblClinVar.1
Natural variantiVAR_001937494G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886118EnsemblClinVar.1
Natural variantiVAR_001938496 – 507Missing in ATS1; juvenile type. Add BLAST12
Natural variantiVAR_011236497G → C in ATS1; adult type. Corresponds to variant dbSNP:rs104886120EnsemblClinVar.1
Natural variantiVAR_001939521G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886121EnsemblClinVar.1
Natural variantiVAR_001940521G → S in ATS1. Corresponds to variant dbSNP:rs104886121EnsemblClinVar.1
Natural variantiVAR_011237524G → D in ATS1; adult type. Corresponds to variant dbSNP:rs104886119EnsemblClinVar.1
Natural variantiVAR_007994545G → R in ATS1. Corresponds to variant dbSNP:rs104886126EnsemblClinVar.1
Natural variantiVAR_007995545G → V in ATS1. Corresponds to variant dbSNP:rs104886127EnsemblClinVar.1
Natural variantiVAR_011238558G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886129EnsemblClinVar.1
Natural variantiVAR_007996561G → R in ATS1. Corresponds to variant dbSNP:rs104886136EnsemblClinVar.1
Natural variantiVAR_001941567G → A in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886137EnsemblClinVar.1
Natural variantiVAR_011239573G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886138EnsemblClinVar.1
Natural variantiVAR_011240579G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886130EnsemblClinVar.1
Natural variantiVAR_007997579G → R in ATS1; adult type. Corresponds to variant dbSNP:rs104886139EnsemblClinVar.1
Natural variantiVAR_011241603G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886133EnsemblClinVar.1
Natural variantiVAR_011242609G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886135EnsemblClinVar.1
Natural variantiVAR_001942609G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886140EnsemblClinVar.1
Natural variantiVAR_011243619P → S1 Publication1
Natural variantiVAR_011244621G → C in ATS1. Corresponds to variant dbSNP:rs104886141EnsemblClinVar.1
Natural variantiVAR_011245624G → D in ATS1. 2 PublicationsCorresponds to variant dbSNP:rs104886142EnsemblClinVar.1
Natural variantiVAR_011246629G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886144EnsemblClinVar.1
Natural variantiVAR_011247632G → D in ATS1. Corresponds to variant dbSNP:rs104886145EnsemblClinVar.1
Natural variantiVAR_011248633E → K in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886146EnsemblClinVar.1
Natural variantiVAR_007998635G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs281874683EnsemblClinVar.1
Natural variantiVAR_001944638G → A in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.1
Natural variantiVAR_007999638G → S in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886147EnsemblClinVar.1
Natural variantiVAR_001943638G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886134EnsemblClinVar.1
Natural variantiVAR_001945653G → R in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886150EnsemblClinVar.1
Natural variantiVAR_001946664K → N1 PublicationCorresponds to variant dbSNP:rs34077552EnsemblClinVar.1
Natural variantiVAR_008000669G → A in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886151EnsemblClinVar.1
Natural variantiVAR_011249681G → D in ATS1. Corresponds to variant dbSNP:rs104886158EnsemblClinVar.1
Natural variantiVAR_001947684G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886160EnsemblClinVar.1
Natural variantiVAR_008001687G → E in ATS1. Corresponds to variant dbSNP:rs104886168EnsemblClinVar.1
Natural variantiVAR_011250722G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886163EnsemblClinVar.1
Natural variantiVAR_011251739P → A1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar.1
Natural variantiVAR_011252739P → S in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886164EnsemblClinVar.1
Natural variantiVAR_001948740G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886165EnsemblClinVar.1
Natural variantiVAR_008002743G → D in ATS1. Corresponds to variant dbSNP:rs104886166EnsemblClinVar.1
Natural variantiVAR_001949772G → D in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886173EnsemblClinVar.1
Natural variantiVAR_001950796G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886177EnsemblClinVar.1
Natural variantiVAR_011254802 – 807Missing in ATS1. 1 Publication6
Natural variantiVAR_011253802G → R in ATS1. Corresponds to variant dbSNP:rs104886179EnsemblClinVar.1
Natural variantiVAR_008003808G → E in ATS1; adult type. Corresponds to variant dbSNP:rs104886180EnsemblClinVar.1
Natural variantiVAR_011255811G → V in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886183EnsemblClinVar.1
Natural variantiVAR_008004822 – 824Missing in ATS1. 3
Natural variantiVAR_011256822G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886184EnsemblClinVar.1
Natural variantiVAR_008005852G → E in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886187EnsemblClinVar.1
Natural variantiVAR_001951852G → R in ATS1. Corresponds to variant dbSNP:rs104886186EnsemblClinVar.1
Natural variantiVAR_011257864 – 875Missing in ATS1. 1 PublicationAdd BLAST12
Natural variantiVAR_001952866G → E in ATS1; adult type. Corresponds to variant dbSNP:rs104886188EnsemblClinVar.1
Natural variantiVAR_001953869G → R in ATS1; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs104886189EnsemblClinVar.1
Natural variantiVAR_001954872G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886190EnsemblClinVar.1
Natural variantiVAR_008006878G → R in ATS1. 1
Natural variantiVAR_011258898M → V in ATS1; mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs104886192EnsemblClinVar.1
Natural variantiVAR_011259902G → V in ATS1; juvenile type. 1 Publication1
Natural variantiVAR_011260911G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886363EnsemblClinVar.1
Natural variantiVAR_011261941G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886196EnsemblClinVar.1
Natural variantiVAR_001955942Missing in ATS1. 1
Natural variantiVAR_011262947G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886370EnsemblClinVar.1
Natural variantiVAR_011263953G → V in ATS1; found on the same allele as variant Glu-1211. 1 PublicationCorresponds to variant dbSNP:rs78972735EnsemblClinVar.1
Natural variantiVAR_008007988 – 992Missing in ATS1; adult type. 5
Natural variantiVAR_0112641006G → A in ATS1. 1 Publication1
Natural variantiVAR_0112651006G → V in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886202EnsemblClinVar.1
Natural variantiVAR_0112661015G → E in ATS1. 1
Natural variantiVAR_0112671015G → V in ATS1. Corresponds to variant dbSNP:rs104886211EnsemblClinVar.1
Natural variantiVAR_0112681030G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886210EnsemblClinVar.1
Natural variantiVAR_0112691036G → V in ATS1. Corresponds to variant dbSNP:rs104886212EnsemblClinVar.1
Natural variantiVAR_0112701039G → S in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886214EnsemblClinVar.1
Natural variantiVAR_0112711045G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886215EnsemblClinVar.1
Natural variantiVAR_0112721066G → R in ATS1. Corresponds to variant dbSNP:rs104886219EnsemblClinVar.1
Natural variantiVAR_0112731066G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886219EnsemblClinVar.1
Natural variantiVAR_0112741086G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886232EnsemblClinVar.1
Natural variantiVAR_0019561104G → V in ATS1. Corresponds to variant dbSNP:rs104886224EnsemblClinVar.1
Natural variantiVAR_0080081107G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886225EnsemblClinVar.1
Natural variantiVAR_0019571143G → D in ATS1; juvenile type. 1 PublicationCorresponds to variant dbSNP:rs104886229EnsemblClinVar.1
Natural variantiVAR_0019581143G → S in ATS1; adult type. Corresponds to variant dbSNP:rs104886228EnsemblClinVar.1
Natural variantiVAR_0112751158G → R in ATS1. 1 Publication1
Natural variantiVAR_0080091161G → R in ATS1. Corresponds to variant dbSNP:rs104886235EnsemblClinVar.1
Natural variantiVAR_0112761167G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886236EnsemblClinVar.1
Natural variantiVAR_0112771170G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886237EnsemblClinVar.1
Natural variantiVAR_0019591182G → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886242EnsemblClinVar.1
Natural variantiVAR_0112781196G → R in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886244EnsemblClinVar.1
Natural variantiVAR_0112791205G → C in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886245EnsemblClinVar.1
Natural variantiVAR_0112801211G → E in ATS1; found on the same allele as variant Val-953. Corresponds to variant dbSNP:rs104886247EnsemblClinVar.1
Natural variantiVAR_0080101211G → R in ATS1. Corresponds to variant dbSNP:rs104886246EnsemblClinVar.1
Natural variantiVAR_0080111220G → D in ATS1. Corresponds to variant dbSNP:rs104886251EnsemblClinVar.1
Natural variantiVAR_0112811229G → D in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886253EnsemblClinVar.1
Natural variantiVAR_0019601241G → C in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886255EnsemblClinVar.1
Natural variantiVAR_0112821244G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886261EnsemblClinVar.1
Natural variantiVAR_0112831252G → S in ATS1; adult type. Corresponds to variant dbSNP:rs104886262EnsemblClinVar.1
Natural variantiVAR_0112841261G → E in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886264EnsemblClinVar.1
Natural variantiVAR_0019611270G → S in ATS1. Corresponds to variant dbSNP:rs104886257EnsemblClinVar.1
Natural variantiVAR_0080121333G → S in ATS1. Corresponds to variant dbSNP:rs104886266EnsemblClinVar.1
Natural variantiVAR_0112851357G → S in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886267EnsemblClinVar.1
Natural variantiVAR_0019621379G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886269EnsemblClinVar.1
Natural variantiVAR_0019631410R → C in ATS1; adult and juvenile types. 1 PublicationCorresponds to variant dbSNP:rs104886270EnsemblClinVar.1
Natural variantiVAR_0019641421G → W in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886272EnsemblClinVar.1
Natural variantiVAR_0019651422R → C in ATS1; juvenile type. Corresponds to variant dbSNP:rs144282156EnsemblClinVar.1
Natural variantiVAR_0080131427G → V in ATS1; adult type. Corresponds to variant dbSNP:rs104886274EnsemblClinVar.1
Natural variantiVAR_0112861428L → M1 Publication1
Natural variantiVAR_0080141442G → D in ATS1. Corresponds to variant dbSNP:rs104886277EnsemblClinVar.1
Natural variantiVAR_0019661451G → S in ATS1. Corresponds to variant dbSNP:rs104886280EnsemblClinVar.1
Natural variantiVAR_0080151486G → A in ATS1; adult type. Corresponds to variant dbSNP:rs104886282EnsemblClinVar.1
Natural variantiVAR_0112871488S → F in ATS1. Corresponds to variant dbSNP:rs104886283EnsemblClinVar.1
Natural variantiVAR_0019671498A → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886284EnsemblClinVar.1
Natural variantiVAR_0112881511R → H in ATS1; juvenile type; could be a non pathogenic variant. 1 PublicationCorresponds to variant dbSNP:rs104886285EnsemblClinVar.1
Natural variantiVAR_0019681517P → T in ATS1; juvenile type. 2 PublicationsCorresponds to variant dbSNP:rs201220208EnsemblClinVar.1
Natural variantiVAR_0019691538W → S in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886293EnsemblClinVar.1
Natural variantiVAR_0080161559P → A. Corresponds to variant dbSNP:rs104886295EnsemblClinVar.1
Natural variantiVAR_0019701563R → Q in ATS1. 1 PublicationCorresponds to variant dbSNP:rs281874743EnsemblClinVar.1
Natural variantiVAR_0019711564C → S in ATS1; adult type. 1 PublicationCorresponds to variant dbSNP:rs104886287EnsemblClinVar.1
Natural variantiVAR_0112891567C → R in ATS1; juvenile type. Corresponds to variant dbSNP:rs104886288EnsemblClinVar.1
Natural variantiVAR_0019721596G → D in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886297EnsemblClinVar.1
Natural variantiVAR_0195941597 – 1685Missing in ATS1. 1 PublicationAdd BLAST89
Natural variantiVAR_0019731649L → R in ATS1; adult type. 3 PublicationsCorresponds to variant dbSNP:rs104886303EnsemblClinVar.1
Natural variantiVAR_0112901677R → P in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar.1
Natural variantiVAR_0019741677R → Q in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886308EnsemblClinVar.1
Natural variantiVAR_0112911678C → W in ATS1. 1 PublicationCorresponds to variant dbSNP:rs104886311EnsemblClinVar.1
Natural variantiVAR_0195951679 – 1685Missing in ATS1. 7

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0011731264G → GPTGFQG in isoform 2. Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M58526 mRNA Translation: AAA99480.1
AL034369 Genomic DNA No translation available.
AL035425 Genomic DNA No translation available.
AL031622 Genomic DNA No translation available.
AL136364 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02683.1
M90464 mRNA Translation: AAA52046.1
U04520
, U04470, U04471, U04472, U04473, U04474, U04476, U04477, U04478, U04479, U04480, U04483, U04485, U04486, U04487, U04488, U04489, U04490, U04491, U04492, U04493, U04494, U04495, U04496, U04497, U04498, U04499, U04500, U04501, U04502, U04503, U04504, U04505, U04506, U04507, U04508, U04509, U04510, U04511, U04512, U04514, U04515, U04516, U04517, U04518, U04519 Genomic DNA Translation: AAC27816.1
U04520
, U04470, U04471, U04472, U04473, U04474, U04476, U04477, U04478, U04479, U04480, U04483, U04485, U04486, U04487, U04488, U04489, U04490, U04491, U04492, U04493, U04494, U04495, U04496, U04497, U04498, U04499, U04500, U04501, U04502, U04503, U04504, U04505, U04506, U04507, U04508, U04509, U04510, AF199451, AF199452, U04511, U04512, U04514, U04515, U04516, U04517, U04518, U04519 Genomic DNA Translation: AAF66217.2
M63473
, M63455, M63456, M63457, M63458, M63459, M63460, M63461, M63462, M63463, M63464, M63465, M63466, M63467, M63468, M63470, M63471, M63472 Genomic DNA Translation: AAA51558.1
M31115 mRNA Translation: AAA52045.1
Z37153 Genomic DNA Translation: CAA85512.1
S69168 mRNA Translation: AAC60612.1
S59334 mRNA Translation: AAD13909.1
S75903 Genomic DNA Translation: AAB33374.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14543.1 [P29400-1]
CCDS35366.1 [P29400-2]

Protein sequence database of the Protein Information Resource

More...PIRi		S22917

NCBI Reference Sequences

More...RefSeqi		NP_000486.1, NM_000495.4 [P29400-1]
NP_203699.1, NM_033380.2 [P29400-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000328300; ENSP00000331902; ENSG00000188153 [P29400-2]
ENST00000361603; ENSP00000354505; ENSG00000188153 [P29400-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1287

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1287

UCSC genome browser

More...UCSCi		uc004enz.3 human [P29400-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Alport syndrome and COL4A5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M58526 mRNA Translation: AAA99480.1
AL034369 Genomic DNA No translation available.
AL035425 Genomic DNA No translation available.
AL031622 Genomic DNA No translation available.
AL136364 Genomic DNA No translation available.
CH471120 Genomic DNA Translation: EAX02683.1
M90464 mRNA Translation: AAA52046.1
U04520
, U04470, U04471, U04472, U04473, U04474, U04476, U04477, U04478, U04479, U04480, U04483, U04485, U04486, U04487, U04488, U04489, U04490, U04491, U04492, U04493, U04494, U04495, U04496, U04497, U04498, U04499, U04500, U04501, U04502, U04503, U04504, U04505, U04506, U04507, U04508, U04509, U04510, U04511, U04512, U04514, U04515, U04516, U04517, U04518, U04519 Genomic DNA Translation: AAC27816.1
U04520
, U04470, U04471, U04472, U04473, U04474, U04476, U04477, U04478, U04479, U04480, U04483, U04485, U04486, U04487, U04488, U04489, U04490, U04491, U04492, U04493, U04494, U04495, U04496, U04497, U04498, U04499, U04500, U04501, U04502, U04503, U04504, U04505, U04506, U04507, U04508, U04509, U04510, AF199451, AF199452, U04511, U04512, U04514, U04515, U04516, U04517, U04518, U04519 Genomic DNA Translation: AAF66217.2
M63473
, M63455, M63456, M63457, M63458, M63459, M63460, M63461, M63462, M63463, M63464, M63465, M63466, M63467, M63468, M63470, M63471, M63472 Genomic DNA Translation: AAA51558.1
M31115 mRNA Translation: AAA52045.1
Z37153 Genomic DNA Translation: CAA85512.1
S69168 mRNA Translation: AAC60612.1
S59334 mRNA Translation: AAD13909.1
S75903 Genomic DNA Translation: AAB33374.1
CCDSiCCDS14543.1 [P29400-1]
CCDS35366.1 [P29400-2]
PIRiS22917
RefSeqiNP_000486.1, NM_000495.4 [P29400-1]
NP_203699.1, NM_033380.2 [P29400-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5NAZX-ray1.85A1457-1685[»]
SMRiP29400
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi107684, 23 interactors
ComplexPortaliCPX-1724 Collagen type IV trimer variant 2