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Protein

Collagen alpha-1(XVII) chain

Gene

COL17A1

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

May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.
The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.

Miscellaneous

Both the 120 kDa linear IgA disease antigen and the 97 kDa linear IgA disease antigen of COL17A1, represent major antigenic targets of autoantibodies in patients with linear IgA disease (LAD). LAD is a subepidermal blistering disorder characterized by tissue-bound and circulating IgA autoantibodies to the dermal-epidermal junction. These IgA autoantibodies preferentially react with 97 and the 120 kDa forms, but not with the full-length COL17A1, suggesting that the cleavage of the ectodomain generates novel autoantigenic epitopes.

<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

  • cell-matrix adhesion Source: ProtInc
  • epidermis development Source: ProtInc
  • extracellular matrix organization Source: GO_Central
  • hemidesmosome assembly Source: UniProtKB
  • regulation of immune response Source: Reactome

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-446107 Type I hemidesmosome assembly
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(XVII) chain
Alternative name(s):
180 kDa bullous pemphigoid antigen 2
Bullous pemphigoid antigen 2
Cleaved into the following 2 chains:
Alternative name(s):
120 kDa linear IgA dermatosis antigen
Linear IgA disease antigen 1
Short name:
LAD-1
Alternative name(s):
97 kDa linear IgA bullous dermatosis antigen
Short name:
97 kDa LAD antigen
Short name:
97-LAD
Linear IgA bullous disease antigen of 97 kDa
Short name:
LABD97
<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:COL17A1
Synonyms:BP180, BPAG2
<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 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000065618.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2194 COL17A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
113811 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UMD9

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 467CytoplasmicSequence analysisAdd BLAST467
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei468 – 488Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini489 – 1497ExtracellularSequence analysisAdd BLAST1009

<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, Cell junction, Extracellular matrix, Membrane, 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

Generalized atrophic benign epidermolysis bullosa (GABEB)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.
See also OMIM:226650
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_017596265S → C in GABEB. 1 Publication1
Natural variantiVAR_017598627G → V in GABEB. 2 Publications1
Natural variantiVAR_017599633G → D in GABEB. 1 PublicationCorresponds to variant dbSNP:rs121912773EnsemblClinVar.1
Natural variantiVAR_0176011303R → Q in GABEB. 1 PublicationCorresponds to variant dbSNP:rs121912771EnsemblClinVar.1
Epithelial recurrent erosion dystrophy (ERED)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks.
See also OMIM:122400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074627939T → I in ERED. 1 PublicationCorresponds to variant dbSNP:rs797045142EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epidermolysis bullosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
1308

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

More...
GeneReviewsi
COL17A1

MalaCards human disease database

More...
MalaCardsi
COL17A1
MIMi122400 phenotype
226650 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000065618

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

More...
Orphaneti
293381 Epithelial recurrent erosion dystrophy
79402 Junctional epidermolysis bullosa, generalized intermediate
79406 Late-onset junctional epidermolysis bullosa
251393 Localized junctional epidermolysis bullosa, non-Herlitz type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26710

Protein family/group databases

Allergome; a platform for allergen knowledge

More...
Allergomei
8213 Hom s BP180

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL17A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
146345399

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000594061 – 1497Collagen alpha-1(XVII) chainAdd BLAST1497
ChainiPRO_0000342555524 – 1497120 kDa linear IgA disease antigenAdd BLAST974
ChainiPRO_0000342556531 – ?97 kDa linear IgA disease antigen

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 residuei544Phosphoserine; by CK21 Publication1
<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>Glycosylationi1421N-linked (GlcNAc...) asparagine1 Publication1

<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

The intracellular/endo domain is disulfide-linked.
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
The ectodomain is shedded from the surface of keratinocytes resulting in a 120-kDa soluble form, also named as 120 kDa linear IgA disease antigen. The shedding is mediated by membrane-bound metalloproteases. This cleavage is inhibited by phosphorylation at Ser-544.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9UMD9

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

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PaxDbi
Q9UMD9

PeptideAtlas

More...
PeptideAtlasi
Q9UMD9

PRoteomics IDEntifications database

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PRIDEi
Q9UMD9

ProteomicsDB human proteome resource

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ProteomicsDBi
85187
85188 [Q9UMD9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UMD9

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

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PhosphoSitePlusi
Q9UMD9

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9UMD9

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
Q9UMD9

<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

Detected in skin (PubMed:8618013). In the cornea, it is detected in the epithelial basement membrane, the epithelial cells, and at a lower level in stromal cells (at protein level) (PubMed:25676728). Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa, esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood vessels, skeletal muscle and nerves.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000065618 Expressed in 109 organ(s), highest expression level in skin of abdomen

CleanEx database of gene expression profiles

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CleanExi
HS_COL17A1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UMD9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9UMD9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043673
HPA052963

<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

Homotrimers of alpha 1(XVII)chains. Interacts (via cytoplasmic region) with ITGB4 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Interacts (via N-terminus) with PLEC. Interacts (via cytoplasmic region) with DSP.3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107704, 9 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1758 Collagen type XVII trimer

Protein interaction database and analysis system

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IntActi
Q9UMD9, 7 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000340937

<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

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

More...
SMRi
Q9UMD9

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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

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>Regioni1 – 566Nonhelical region (NC16)Add BLAST566
Regioni145 – 230Necessary for interaction with DST and for the recruitment of DST to hemidesmosome1 PublicationAdd BLAST86
Regioni567 – 1482Triple-helical regionAdd BLAST916
Regioni1483 – 1497Nonhelical region (NC1)Add BLAST15

Keywords - Domaini

Collagen, Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3544 Eukaryota
ENOG41103C3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161242

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111885

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051065

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UMD9

KEGG Orthology (KO)

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KOi
K07603

Identification of Orthologs from Complete Genome Data

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OMAi
WSSISME

Database of Orthologous Groups

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OrthoDBi
EOG091G025Z

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9UMD9

TreeFam database of animal gene trees

More...
TreeFami
TF332289

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008160 Collagen

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 3 hits

<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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UMD9-1) [UniParc]FASTAAdd to basket

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
MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS
60 70 80 90 100
RLEKQSLTHG SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER
110 120 130 140 150
KTHVTRHAYE GSSSGNSSPE YPRKEFASSS TRGRSQTRES EIRVRLQSAS
160 170 180 190 200
PSTRWTELDD VKRLLKGSRS ASVSPTRNSS NTLPIPKKGT VETKIVTASS
210 220 230 240 250
QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT QSSSLLNTNA
260 270 280 290 300
YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT
310 320 330 340 350
TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD
360 370 380 390 400
NTPAKKEMEL LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS
410 420 430 440 450
GLKAEANGDL KTVSTKGKTT TADIHSYGSS GGGGSGGGGG VGGAGGGPWG
460 470 480 490 500
PAPAWCPCGS CCSWWKWLLG LLLTWLLLLG LLFGLIALAE EVRKLKARVD
510 520 530 540 550
ELERIRRSIL PYGDSMDRIE KDRLQGMAPA AGADLDKIGL HSDSQEELWM
560 570 580 590 600
FVRKKLMMEQ ENGNLRGSPG PKGDMGSPGP KGDRGFPGTP GIPGPLGHPG
610 620 630 640 650
PQGPKGQKGS VGDPGMEGPM GQRGREGPMG PRGEAGPPGS GEKGERGAAG
660 670 680 690 700
EPGPHGPPGV PGSVGPKGSS GSPGPQGPPG PVGLQGLRGE VGLPGVKGDK
710 720 730 740 750
GPMGPPGPKG DQGEKGPRGL TGEPGMRGLP GAVGEPGAKG AMGPAGPDGH
760 770 780 790 800
QGPRGEQGLT GMPGIRGPPG PSGDPGKPGL TGPQGPQGLP GTPGRPGIKG
810 820 830 840 850
EPGAPGKIVT SEGSSMLTVP GPPGPPGAMG PPGPPGAPGP AGPAGLPGHQ
860 870 880 890 900
EVLNLQGPPG PPGPRGPPGP SIPGPPGPRG PPGEGLPGPP GPPGSFLSNS
910 920 930 940 950
ETFLSGPPGP PGPPGPKGDQ GPPGPRGHQG EQGLPGFSTS GSSSFGLNLQ
960 970 980 990 1000
GPPGPPGPQG PKGDKGDPGV PGALGIPSGP SEGGSSSTMY VSGPPGPPGP
1010 1020 1030 1040 1050
PGPPGSISSS GQEIQQYISE YMQSDSIRSY LSGVQGPPGP PGPPGPVTTI
1060 1070 1080 1090 1100
TGETFDYSEL ASHVVSYLRT SGYGVSLFSS SISSEDILAV LQRDDVRQYL
1110 1120 1130 1140 1150
RQYLMGPRGP PGPPGASGDG SLLSLDYAEL SSRILSYMSS SGISIGLPGP
1160 1170 1180 1190 1200
PGPPGLPGTS YEELLSLLRG SEFRGIVGPP GPPGPPGIPG NVWSSISVED
1210 1220 1230 1240 1250
LSSYLHTAGL SFIPGPPGPP GPPGPRGPPG VSGALATYAA ENSDSFRSEL
1260 1270 1280 1290 1300
ISYLTSPDVR SFIVGPPGPP GPQGPPGDSR LLSTDASHSR GSSSSSHSSS
1310 1320 1330 1340 1350
VRRGSSYSSS MSTGGGGAGS LGAGGAFGEA AGDRGPYGTD IGPGGGYGAA
1360 1370 1380 1390 1400
AEGGMYAGNG GLLGADFAGD LDYNELAVRV SESMQRQGLL QGMAYTVQGP
1410 1420 1430 1440 1450
PGQPGPQGPP GISKVFSAYS NVTADLMDFF QTYGAIQGPP GQKGEMGTPG
1460 1470 1480 1490
PKGDRGPAGP PGHPGPPGPR GHKGEKGDKG DQVYAGRRRR RSIAVKP
Length:1,497
Mass (Da):150,419
Last modified:May 1, 2007 - 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:iE01027005F3AE843
GO
Isoform 2 (identifier: Q9UMD9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     922-966: Missing.
     1170-1207: GSEFRGIVGPPGPPGPPGIPGNVWSSISVEDLSSYLHT → A

Note: Gene prediction based on EST data.
Show »
Length:1,415
Mass (Da):142,344
Checksum:i51434477730EC017
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2A2Y8A2A2Y8_HUMAN
Collagen alpha-1(XVII) chain
COL17A1
417Annotation 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>
H0Y420H0Y420_HUMAN
Collagen alpha-1(XVII) chain
COL17A1
66Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA35605 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH04478 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

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 conflicti856Q → P in AAA51839 (PubMed:1748679).Curated1
Sequence conflicti905S → F in AAA35605 (PubMed:1324962).Curated1
Sequence conflicti905S → F in AAB51499 (PubMed:9012408).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0487814T → A. Corresponds to variant dbSNP:rs17116471EnsemblClinVar.1
Natural variantiVAR_017593210T → M1 PublicationCorresponds to variant dbSNP:rs805708EnsemblClinVar.1
Natural variantiVAR_017594231M → I2 PublicationsCorresponds to variant dbSNP:rs1054113Ensembl.1
Natural variantiVAR_017595238M → T1 Publication1
Natural variantiVAR_017596265S → C in GABEB. 1 Publication1
Natural variantiVAR_017597428G → S2 PublicationsCorresponds to variant dbSNP:rs805698EnsemblClinVar.1
Natural variantiVAR_017598627G → V in GABEB. 2 Publications1
Natural variantiVAR_017599633G → D in GABEB. 1 PublicationCorresponds to variant dbSNP:rs121912773EnsemblClinVar.1
Natural variantiVAR_017600703M → V1 PublicationCorresponds to variant dbSNP:rs805722EnsemblClinVar.1
Natural variantiVAR_074627939T → I in ERED. 1 PublicationCorresponds to variant dbSNP:rs797045142EnsemblClinVar.1
Natural variantiVAR_0176011303R → Q in GABEB. 1 PublicationCorresponds to variant dbSNP:rs121912771EnsemblClinVar.1
Natural variantiVAR_0176021370D → G1 PublicationCorresponds to variant dbSNP:rs17116350EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_024940922 – 966Missing in isoform 2. CuratedAdd BLAST45
Alternative sequenceiVSP_0249411170 – 1207GSEFR…SYLHT → A in isoform 2. CuratedAdd BLAST38

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M91669 mRNA Translation: AAA35605.1 Different initiation.
U76604
, U76565, U76566, U76567, U76568, U76569, U76570, U76571, U76572, U76573, U76574, U76575, U76576, U76577, U76578, U76579, U76580, U76581, U76582, U76583, U76584, U76585, U76586, U76587, U76588, U76589, U76590, U76591, U76592, U76593, U76594, U76595, U76596, U76597, U76598, U76599, U76600, U76601, U76602, U76603 Genomic DNA Translation: AAB51499.1
AL138761 Genomic DNA No translation available.
BC004478 mRNA Translation: AAH04478.1 Sequence problems.
M63730 mRNA Translation: AAA51839.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7554.1 [Q9UMD9-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I56325 A61262

NCBI Reference Sequences

More...
RefSeqi
NP_000485.3, NM_000494.3 [Q9UMD9-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.117938
Hs.732773

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000353479; ENSP00000340937; ENSG00000065618 [Q9UMD9-1]
ENST00000369733; ENSP00000358748; ENSG00000065618 [Q9UMD9-2]
ENST00000648076; ENSP00000497653; ENSG00000065618 [Q9UMD9-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1308

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1308

UCSC genome browser

More...
UCSCi
uc001kxr.4 human [Q9UMD9-1]

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
M91669 mRNA Translation: AAA35605.1 Different initiation.
U76604
, U76565, U76566, U76567, U76568, U76569, U76570, U76571, U76572, U76573, U76574, U76575, U76576, U76577, U76578, U76579, U76580, U76581, U76582, U76583, U76584, U76585, U76586, U76587, U76588, U76589, U76590, U76591, U76592, U76593, U76594, U76595, U76596, U76597, U76598, U76599, U76600, U76601, U76602, U76603 Genomic DNA Translation: AAB51499.1
AL138761 Genomic DNA No translation available.
BC004478 mRNA Translation: AAH04478.1 Sequence problems.
M63730 mRNA Translation: AAA51839.1
CCDSiCCDS7554.1 [Q9UMD9-1]
PIRiI56325 A61262
RefSeqiNP_000485.3, NM_000494.3 [Q9UMD9-1]
UniGeneiHs.117938
Hs.732773

3D structure databases

SMRiQ9UMD9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107704, 9 interactors
ComplexPortaliCPX-1758 Collagen type XVII trimer
IntActiQ9UMD9, 7 interactors
STRINGi9606.ENSP00000340937

Protein family/group databases

Allergomei8213 Hom s BP180

PTM databases

iPTMnetiQ9UMD9
PhosphoSitePlusiQ9UMD9
SwissPalmiQ9UMD9

Polymorphism and mutation databases

BioMutaiCOL17A1
DMDMi146345399

Proteomic databases

EPDiQ9UMD9
PaxDbiQ9UMD9
PeptideAtlasiQ9UMD9
PRIDEiQ9UMD9
ProteomicsDBi85187
85188 [Q9UMD9-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1308
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000353479; ENSP00000340937; ENSG00000065618 [Q9UMD9-1]
ENST00000369733; ENSP00000358748; ENSG00000065618 [Q9UMD9-2]
ENST00000648076; ENSP00000497653; ENSG00000065618 [Q9UMD9-1]
GeneIDi1308
KEGGihsa:1308
UCSCiuc001kxr.4 human [Q9UMD9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1308
DisGeNETi1308
EuPathDBiHostDB:ENSG00000065618.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL17A1
GeneReviewsiCOL17A1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0035327
HGNCiHGNC:2194 COL17A1
HPAiHPA043673
HPA052963
MalaCardsiCOL17A1
MIMi113811 gene
122400 phenotype
226650 phenotype
neXtProtiNX_Q9UMD9
OpenTargetsiENSG00000065618
Orphaneti293381 Epithelial recurrent erosion dystrophy
79402 Junctional epidermolysis bullosa, generalized intermediate
79406 Late-onset junctional epidermolysis bullosa
251393 Localized junctional epidermolysis bullosa, non-Herlitz type
PharmGKBiPA26710

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG41103C3 LUCA
GeneTreeiENSGT00940000161242
HOGENOMiHOG000111885
HOVERGENiHBG051065
InParanoidiQ9UMD9
KOiK07603
OMAiWSSISME
OrthoDBiEOG091G025Z
PhylomeDBiQ9UMD9
TreeFamiTF332289

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-446107 Type I hemidesmosome assembly
R-HSA-8948216 Collagen chain trimerization

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Collagen,_type_XVII,_alpha_1

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

More...
GenomeRNAii
1308
PMAP-CutDBiQ9UMD9

Protein Ontology

More...
PROi
PR:Q9UMD9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000065618 Expressed in 109 organ(s), highest expression level in skin of abdomen
CleanExiHS_COL17A1
ExpressionAtlasiQ9UMD9 baseline and differential
GenevisibleiQ9UMD9 HS

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
PfamiView protein in Pfam
PF01391 Collagen, 3 hits

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 nameiCOHA1_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: Q9UMD9
Secondary accession number(s): Q02802
, Q5JV36, Q99018, Q9NQK9, Q9UC14
<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 2, 2004
Last sequence update: May 1, 2007
Last modified: December 5, 2018
This is version 166 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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