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Entry version 207 (13 Feb 2019)
Sequence version 3 (13 Sep 2005)
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Protein

Collagen alpha-1(V) chain

Gene

COL5A1

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 V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi1657CalciumBy similarity1
Metal bindingi1659CalciumBy similarity1
Metal bindingi1660Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1662Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1665CalciumBy similarity1

<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

GO - Biological processi

<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>Keywordsi

Molecular functionHeparin-binding
LigandCalcium, Metal-binding

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-3000170 Syndecan interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8874081 MET activates PTK2 signaling
R-HSA-8948216 Collagen chain trimerization

<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-1(V) 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:COL5A1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000130635.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2209 COL5A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
120215 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P20908

<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

Keywords - Cellular componenti

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

Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant.
See also OMIM:130000
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_05790225L → P in EDSCL1; not or less efficiently secreted into the extracellular matrix. 1 Publication1
Natural variantiVAR_05790325L → R in EDSCL1; not or less efficiently secreted into the extracellular matrix. 1 Publication1
Natural variantiVAR_015412530G → S in EDSCL1. 3 PublicationsCorresponds to variant dbSNP:rs61735045EnsemblClinVar.1
Natural variantiVAR_0579091486G → C in EDSCL1. 1 Publication1
Natural variantiVAR_0154131489G → D in EDSCL1. 1 Publication1
Natural variantiVAR_0018081639C → S in EDSCL1. 1 PublicationCorresponds to variant dbSNP:rs80338764EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
1289

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

More...
GeneReviewsi
COL5A1

MalaCards human disease database

More...
MalaCardsi
COL5A1
MIMi130000 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000130635

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

More...
Orphaneti
90309 Ehlers-Danlos syndrome type 1
90318 Ehlers-Danlos syndrome type 2
286 Ehlers-Danlos syndrome, vascular type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26724

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
COL5A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
85687376

<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 – 37Sequence analysisAdd BLAST37
<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_000000575638 – 1605Collagen alpha-1(V) chainAdd BLAST1568
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_00000057571606 – 1838C-terminal propeptideAdd BLAST233

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei234SulfotyrosineSequence analysis1
Modified residuei236SulfotyrosineSequence analysis1
Modified residuei240SulfotyrosineSequence analysis1
Modified residuei262SulfotyrosineSequence analysis1
Modified residuei263SulfotyrosineSequence analysis1
Modified residuei338SulfotyrosineSequence analysis1
Modified residuei340SulfotyrosineSequence analysis1
Modified residuei346SulfotyrosineSequence analysis1
Modified residuei347SulfotyrosineSequence analysis1
Modified residuei416SulfotyrosineSequence analysis1
Modified residuei417SulfotyrosineSequence analysis1
Modified residuei420SulfotyrosineSequence analysis1
Modified residuei421SulfotyrosineSequence analysis1
Modified residuei570Hydroxyproline1 Publication1
Modified residuei576Hydroxyproline1 Publication1
Modified residuei621Hydroxyproline1 Publication1
Modified residuei6275-hydroxylysine1 Publication1
Modified residuei639Hydroxyproline1 Publication1
Modified residuei6425-hydroxylysine1 Publication1
Modified residuei648Hydroxyproline1 Publication1
Modified residuei654Hydroxyproline1 Publication1
Modified residuei657Hydroxyproline1 Publication1
Modified residuei675Hydroxyproline1 Publication1
Modified residuei678Hydroxyproline1 Publication1
Modified residuei6875-hydroxylysine1 Publication1
Modified residuei690Hydroxyproline1 Publication1
Modified residuei696Hydroxyproline1 Publication1
Modified residuei705Hydroxyproline1 Publication1
Modified residuei7085-hydroxylysine1 Publication1
Modified residuei717Hydroxyproline1 Publication1
Modified residuei720Hydroxyproline1 Publication1
Modified residuei726Hydroxyproline1 Publication1
Modified residuei732Hydroxyproline1 Publication1
Modified residuei7445-hydroxylysine1 Publication1
Modified residuei750Hydroxyproline1 Publication1
Modified residuei756Hydroxyproline2 Publications1
Modified residuei762Hydroxyproline2 Publications1
Modified residuei765Hydroxyproline1 Publication1
Modified residuei771Hydroxyproline1 Publication1
Modified residuei7745-hydroxylysine1 Publication1
Modified residuei780Hydroxyproline1 Publication1
Modified residuei789Hydroxyproline1 Publication1
Modified residuei7955-hydroxylysine1 Publication1
Modified residuei8045-hydroxylysine1 Publication1
Modified residuei8075-hydroxylysine1 Publication1
Modified residuei8105-hydroxylysine1 Publication1
Modified residuei816Hydroxyproline1 Publication1
Modified residuei8195-hydroxylysine1 Publication1
Modified residuei834Hydroxyproline2 Publications1
Modified residuei8465-hydroxylysine2 Publications1
Modified residuei861Hydroxyproline2 Publications1
Modified residuei8645-hydroxylysine2 Publications1
Modified residuei870Hydroxyproline2 Publications1
Modified residuei873Hydroxyproline2 Publications1
Modified residuei876Hydroxyproline2 Publications1
Modified residuei8825-hydroxylysine2 Publications1
Modified residuei888Hydroxyproline2 Publications1
Modified residuei891Hydroxyproline2 Publications1
Modified residuei8975-hydroxylysine2 Publications1
Modified residuei903Hydroxyproline2 Publications1
Modified residuei906Hydroxyproline2 Publications1
Modified residuei930Hydroxyproline1 Publication1
Modified residuei945Hydroxyproline1 Publication1
Modified residuei1017Hydroxyproline1 Publication1
Modified residuei1020Hydroxyproline1 Publication1
Modified residuei1023Hydroxyproline1 Publication1
Modified residuei1029Hydroxyproline1 Publication1
Modified residuei1221Hydroxyproline1 Publication1
Modified residuei1224Hydroxyproline1 Publication1
Modified residuei1467Hydroxyproline1 Publication1
Modified residuei1470Hydroxyproline1 Publication1
Modified residuei1601SulfotyrosineSequence analysis1
Modified residuei1604SulfotyrosineSequence 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 bondi1639 ↔ 1671PROSITE-ProRule annotation
Disulfide bondi1645Interchain (with C-1662)PROSITE-ProRule annotation
Disulfide bondi1662Interchain (with C-1645)PROSITE-ProRule annotation
Disulfide bondi1680 ↔ 1835PROSITE-ProRule annotation
Disulfide bondi1746 ↔ 1789PROSITE-ProRule annotation

<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.1 Publication
Sulfated on 40% of tyrosines.

Keywords - PTMi

Disulfide bond, Hydroxylation, Sulfation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P20908

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P20908

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P20908

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

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PaxDbi
P20908

PeptideAtlas

More...
PeptideAtlasi
P20908

PRoteomics IDEntifications database

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PRIDEi
P20908

ProteomicsDB human proteome resource

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ProteomicsDBi
53822

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1128

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P20908

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

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PhosphoSitePlusi
P20908

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P20908

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130635 Expressed in 211 organ(s), highest expression level in tendon of biceps brachii

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P20908 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P20908 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA030769

<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

Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha 2(V), and one alpha 3(V) chains in placenta. Interacts with CSPG4.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107686, 26 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1727 Collagen type V trimer variant 1
CPX-1728 Collagen type V trimer variant 2
CPX-1729 Collagen type V trimer variant 3
CPX-1752 Collagen type XI trimer variant 3

Protein interaction database and analysis system

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IntActi
P20908, 24 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000360882

<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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A89model-A/B/C904-924[»]
1A9Amodel-A/C904-924[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P20908

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

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SMRi
P20908

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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>Domaini72 – 244Laminin G-likeAdd BLAST173
Domaini1609 – 1837Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST229

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>Regioni231 – 443Nonhelical regionAdd BLAST213
Regioni444 – 558Interrupted collagenous regionAdd BLAST115
Regioni559 – 1570Triple-helical regionAdd BLAST1012
Regioni1571 – 1605Nonhelical regionAdd BLAST35

<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

The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).By similarity

<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 fibrillar collagen family.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3544 Eukaryota
ENOG410XNMM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159211

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000085654

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004933

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P20908

KEGG Orthology (KO)

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KOi
K19721

Identification of Orthologs from Complete Genome Data

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OMAi
HQNITYN

Database of Orthologous Groups

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OrthoDBi
199083at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P20908

TreeFam database of animal gene trees

More...
TreeFami
TF323987

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR000885 Fib_collagen_C
IPR001791 Laminin_G

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01410 COLFI, 1 hit
PF01391 Collagen, 5 hits

ProDom; a protein domain database

More...
ProDomi
View protein in ProDom or Entries sharing at least one domain
PD002078 Fib_collagen_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00038 COLFI, 1 hit
SM00282 LamG, 1 hit
SM00210 TSPN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49899 SSF49899, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51461 NC1_FIB, 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>.<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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P20908-1) [UniParc]FASTAAdd to basket
Also known as: A1 Publication

This isoform has been chosen as the 'canonical' 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
MDVHTRWKAR SALRPGAPLL PPLLLLLLWA PPPSRAAQPA DLLKVLDFHN
60 70 80 90 100
LPDGITKTTG FCATRRSSKG PDVAYRVTKD AQLSAPTKQL YPASAFPEDF
110 120 130 140 150
SILTTVKAKK GSQAFLVSIY NEQGIQQIGL ELGRSPVFLY EDHTGKPGPE
160 170 180 190 200
DYPLFRGINL SDGKWHRIAL SVHKKNVTLI LDCKKKTTKF LDRSDHPMID
210 220 230 240 250
INGIIVFGTR ILDEEVFEGD IQQLLFVSDH RAAYDYCEHY SPDCDTAVPD
260 270 280 290 300
TPQSQDPNPD EYYTEGDGEG ETYYYEYPYY EDPEDLGKEP TPSKKPVEAA
310 320 330 340 350
KETTEVPEEL TPTPTEAAPM PETSEGAGKE EDVGIGDYDY VPSEDYYTPS
360 370 380 390 400
PYDDLTYGEG EENPDQPTDP GAGAEIPTST ADTSNSSNPA PPPGEGADDL
410 420 430 440 450
EGEFTEETIR NLDENYYDPY YDPTSSPSEI GPGMPANQDT IYEGIGGPRG
460 470 480 490 500
EKGQKGEPAI IEPGMLIEGP PGPEGPAGLP GPPGTMGPTG QVGDPGERGP
510 520 530 540 550
PGRPGLPGAD GLPGPPGTML MLPFRFGGGG DAGSKGPMVS AQESQAQAIL
560 570 580 590 600
QQARLALRGP AGPMGLTGRP GPVGPPGSGG LKGEPGDVGP QGPRGVQGPP
610 620 630 640 650
GPAGKPGRRG RAGSDGARGM PGQTGPKGDR GFDGLAGLPG EKGHRGDPGP
660 670 680 690 700
SGPPGPPGDD GERGDDGEVG PRGLPGEPGP RGLLGPKGPP GPPGPPGVTG
710 720 730 740 750
MDGQPGPKGN VGPQGEPGPP GQQGNPGAQG LPGPQGAIGP PGEKGPLGKP
760 770 780 790 800
GLPGMPGADG PPGHPGKEGP PGEKGGQGPP GPQGPIGYPG PRGVKGADGI
810 820 830 840 850
RGLKGTKGEK GEDGFPGFKG DMGIKGDRGE IGPPGPRGED GPEGPKGRGG
860 870 880 890 900
PNGDPGPLGP PGEKGKLGVP GLPGYPGRQG PKGSIGFPGF PGANGEKGGR
910 920 930 940 950
GTPGKPGPRG QRGPTGPRGE RGPRGITGKP GPKGNSGGDG PAGPPGERGP
960 970 980 990 1000
NGPQGPTGFP GPKGPPGPPG KDGLPGHPGQ RGETGFQGKT GPPGPPGVVG
1010 1020 1030 1040 1050
PQGPTGETGP MGERGHPGPP GPPGEQGLPG LAGKEGTKGD PGPAGLPGKD
1060 1070 1080 1090 1100
GPPGLRGFPG DRGLPGPVGA LGLKGNEGPP GPPGPAGSPG ERGPAGAAGP
1110 1120 1130 1140 1150
IGIPGRPGPQ GPPGPAGEKG APGEKGPQGP AGRDGLQGPV GLPGPAGPVG
1160 1170 1180 1190 1200
PPGEDGDKGE IGEPGQKGSK GDKGEQGPPG PTGPQGPIGQ PGPSGADGEP
1210 1220 1230 1240 1250
GPRGQQGLFG QKGDEGPRGF PGPPGPVGLQ GLPGPPGEKG ETGDVGQMGP
1260 1270 1280 1290 1300
PGPPGPRGPS GAPGADGPQG PPGGIGNPGA VGEKGEPGEA GEPGLPGEGG
1310 1320 1330 1340 1350
PPGPKGERGE KGESGPSGAA GPPGPKGPPG DDGPKGSPGP VGFPGDPGPP
1360 1370 1380 1390 1400
GEPGPAGQDG PPGDKGDDGE PGQTGSPGPT GEPGPSGPPG KRGPPGPAGP
1410 1420 1430 1440 1450
EGRQGEKGAK GEAGLEGPPG KTGPIGPQGA PGKPGPDGLR GIPGPVGEQG
1460 1470 1480 1490 1500
LPGSPGPDGP PGPMGPPGLP GLKGDSGPKG EKGHPGLIGL IGPPGEQGEK
1510 1520 1530 1540 1550
GDRGLPGPQG SSGPKGEQGI TGPSGPIGPP GPPGLPGPPG PKGAKGSSGP
1560 1570 1580 1590 1600
TGPKGEAGHP GPPGPPGPPG EVIQPLPIQA SRTRRNIDAS QLLDDGNGEN
1610 1620 1630 1640 1650
YVDYADGMEE IFGSLNSLKL EIEQMKRPLG TQQNPARTCK DLQLCHPDFP
1660 1670 1680 1690 1700
DGEYWVDPNQ GCSRDSFKVY CNFTAGGSTC VFPDKKSEGA RITSWPKENP
1710 1720 1730 1740 1750
GSWFSEFKRG KLLSYVDAEG NPVGVVQMTF LRLLSASAHQ NVTYHCYQSV
1760 1770 1780 1790 1800
AWQDAATGSY DKALRFLGSN DEEMSYDNNP YIRALVDGCA TKKGYQKTVL
1810 1820 1830
EIDTPKVEQV PIVDIMFNDF GEASQKFGFE VGPACFMG
Length:1,838
Mass (Da):183,560
Last modified:September 13, 2005 - v3
<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:i8F18AB0B91B3A0C7
GO
Isoform 2 (identifier: P20908-2) [UniParc]FASTAAdd to basket
Also known as: B1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1690-1711: ARITSWPKENPGSWFSEFKRGK → SKMARWPKEQPSTWYSQYKRGS

Show »
Length:1,838
Mass (Da):183,653
Checksum:iE06AC82BD6CEB8C1
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BY82H7BY82_HUMAN
Collagen alpha-1(V) chain
COL5A1
210Annotation 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 conflicti82 – 83QL → HV in AAA59993 (PubMed:1722213).Curated2
Sequence conflicti390A → R in AAA59993 (PubMed:1722213).Curated1
Sequence conflicti641E → G AA sequence (PubMed:2496661).Curated1
Sequence conflicti650P → L AA sequence (PubMed:2496661).Curated1
Sequence conflicti663R → E AA sequence (PubMed:2496661).Curated1
Sequence conflicti668E → Q AA sequence (PubMed:2496661).Curated1
Sequence conflicti677E → K in BAA14323 (PubMed:2071595).Curated1
Sequence conflicti677E → Q AA sequence (PubMed:2496661).Curated1
Sequence conflicti684L → P AA sequence (PubMed:2496661).Curated1
Sequence conflicti692 – 699PPGPPGVT → VTGEPGAP AA sequence (PubMed:2496661).Curated8
Sequence conflicti727G → Q AA sequence (PubMed:2496661).Curated1
Sequence conflicti741P → L AA sequence (PubMed:2496661).Curated1
Sequence conflicti747L → Q AA sequence (PubMed:2496661).Curated1
Sequence conflicti753P → A AA sequence (PubMed:2496661).Curated1
Sequence conflicti759D → N AA sequence (PubMed:2496661).Curated1
Sequence conflicti776 – 777GQ → QK AA sequence (PubMed:2496661).Curated2
Sequence conflicti849 – 855GGPNGDP → IGPPGPR AA sequence (PubMed:2203476).Curated7
Sequence conflicti894N → D AA sequence (PubMed:2203476).Curated1
Sequence conflicti1295 – 1299LPGEG → PSGRS in BAA14323 (PubMed:2071595).Curated5
Sequence conflicti1554K → R in BAA14323 (PubMed:2071595).Curated1
Sequence conflicti1813V → A in AAA59993 (PubMed:1722213).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05790225L → P in EDSCL1; not or less efficiently secreted into the extracellular matrix. 1 Publication1
Natural variantiVAR_05790325L → R in EDSCL1; not or less efficiently secreted into the extracellular matrix. 1 Publication1
Natural variantiVAR_057904114A → D Unclassified mutation. 1 PublicationCorresponds to variant dbSNP:rs147589613EnsemblClinVar.1
Natural variantiVAR_057905192D → N1 PublicationCorresponds to variant dbSNP:rs138579182EnsemblClinVar.1
Natural variantiVAR_057906229D → N Associated with increased risk of cervical artery dissection. 1 Publication1
Natural variantiVAR_057907393P → S Unclassified mutation. 1 Publication1
Natural variantiVAR_015412530G → S in EDSCL1. 3 PublicationsCorresponds to variant dbSNP:rs61735045EnsemblClinVar.1
Natural variantiVAR_075702863E → V1 PublicationCorresponds to variant dbSNP:rs139788610EnsemblClinVar.1
Natural variantiVAR_064702908P → L Found in a renal cell carcinoma case; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs772211736EnsemblClinVar.1
Natural variantiVAR_057908951N → S Unclassified mutation. 1 PublicationCorresponds to variant dbSNP:rs61736966EnsemblClinVar.1
Natural variantiVAR_0757031140V → M1 PublicationCorresponds to variant dbSNP:rs149616140EnsemblClinVar.1
Natural variantiVAR_0579091486G → C in EDSCL1. 1 Publication1
Natural variantiVAR_0154131489G → D in EDSCL1. 1 Publication1
Natural variantiVAR_0018081639C → S in EDSCL1. 1 PublicationCorresponds to variant dbSNP:rs80338764EnsemblClinVar.1

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_0596551690 – 1711ARITS…FKRGK → SKMARWPKEQPSTWYSQYKR GS in isoform 2. Add BLAST22

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
D90279 mRNA Translation: BAA14323.1
M76729 mRNA Translation: AAA59993.1
AL591890 Genomic DNA No translation available.
AL645768 Genomic DNA No translation available.
AL603650 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6982.1 [P20908-1]
CCDS75932.1 [P20908-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
S18802 CGHU1V

NCBI Reference Sequences

More...
RefSeqi
NP_000084.3, NM_000093.4 [P20908-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.210283

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371817; ENSP00000360882; ENSG00000130635 [P20908-1]
ENST00000618395; ENSP00000481360; ENSG00000130635 [P20908-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1289

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1289

UCSC genome browser

More...
UCSCi
uc004cfe.5 human [P20908-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D90279 mRNA Translation: BAA14323.1
M76729 mRNA Translation: AAA59993.1
AL591890 Genomic DNA No translation available.
AL645768 Genomic DNA No translation available.
AL603650 Genomic DNA No translation available.
CCDSiCCDS6982.1 [P20908-1]
CCDS75932.1 [P20908-2]
PIRiS18802 CGHU1V
RefSeqiNP_000084.3, NM_000093.4 [P20908-1]
UniGeneiHs.210283

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A89model-A/B/C904-924[»]
1A9Amodel-A/C904-924[»]
ProteinModelPortaliP20908
SMRiP20908
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107686, 26 interactors
ComplexPortaliCPX-1727 Collagen type V trimer variant 1
CPX-1728 Collagen type V trimer variant 2
CPX-1729 Collagen type V trimer variant 3
CPX-1752 Collagen type XI trimer variant 3
IntActiP20908, 24 interactors
STRINGi9606.ENSP00000360882

Chemistry databases

ChEMBLiCHEMBL2364188

PTM databases

GlyConnecti1128
iPTMnetiP20908
PhosphoSitePlusiP20908

Polymorphism and mutation databases

BioMutaiCOL5A1
DMDMi85687376

Proteomic databases

EPDiP20908
jPOSTiP20908
MaxQBiP20908
PaxDbiP20908
PeptideAtlasiP20908
PRIDEiP20908
ProteomicsDBi53822

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371817; ENSP00000360882; ENSG00000130635 [P20908-1]
ENST00000618395; ENSP00000481360; ENSG00000130635 [P20908-2]
GeneIDi1289
KEGGihsa:1289
UCSCiuc004cfe.5 human [P20908-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1289
DisGeNETi1289
EuPathDBiHostDB:ENSG00000130635.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL5A1
GeneReviewsiCOL5A1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0008519
HGNCiHGNC:2209 COL5A1
HPAiHPA030769
MalaCardsiCOL5A1
MIMi120215 gene
130000 phenotype
neXtProtiNX_P20908
OpenTargetsiENSG00000130635
Orphaneti90309 Ehlers-Danlos syndrome type 1
90318 Ehlers-Danlos syndrome type 2
286 Ehlers-Danlos syndrome, vascular type
PharmGKBiPA26724

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00940000159211
HOGENOMiHOG000085654
HOVERGENiHBG004933
InParanoidiP20908
KOiK19721
OMAiHQNITYN
OrthoDBi199083at2759
PhylomeDBiP20908
TreeFamiTF323987

Enzyme and pathway databases

ReactomeiR-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-3000170 Syndecan interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-419037 NCAM1 interactions
R-HSA-8874081 MET activates PTK2 signaling
R-HSA-8948216 Collagen chain trimerization

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
COL5A1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Collagen,_type_V,_alpha_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
1289
PMAP-CutDBiP20908

Protein Ontology

More...
PROi
PR:P20908

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130635 Expressed in 211 organ(s), highest expression level in tendon of biceps brachii
ExpressionAtlasiP20908 baseline and differential
GenevisibleiP20908 HS

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
IPR013320 ConA-like_dom_sf
IPR000885 Fib_collagen_C
IPR001791 Laminin_G
PfamiView protein in Pfam
PF01410 COLFI, 1 hit
PF01391 Collagen, 5 hits
ProDomiView protein in ProDom or Entries sharing at least one domain
PD002078 Fib_collagen_C, 1 hit
SMARTiView protein in SMART
SM00038 COLFI, 1 hit
SM00282 LamG, 1 hit
SM00210 TSPN, 1 hit
SUPFAMiSSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS51461 NC1_FIB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCO5A1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P20908
Secondary accession number(s): A0A087WXW9, Q15094, Q5SUX4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: September 13, 2005
Last modified: February 13, 2019
This is version 207 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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