RecName: Full=Collagen alpha-1(XVII) chain; AltName: Full=180 kDa bull - Protein

Run BLAST
Find regions of similarity between this sequence and other sequences using BLAST.
Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.
Highlight Sequence Features
Opens the Highlight Feature Bar and highlights feature annotations from the FEATURES table of the record. The Highlight Feature Bar can be used to navigate to and highlight other features and provides links to display the highlighted region separately. Links in the FEATURES table will also highlight the corresponding region of the sequence. More...
Find in this Sequence
Finds sub-sequences or patterns in the sequence and highlights the matching regions. The tool works with standard single letter nucleotide or protein codes including ambiguities and can match Prosite patterns in protein sequences. More...

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. [J Med Genet. 2024]
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, et al. J Med Genet. 2024 Mar 21; 61(4):347-355. Epub 2024 Mar 21.
Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer. [BMC Cancer. 2023]
Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer.
Crespo-Bravo M, Thorlacius-Ussing J, Nissen NI, Pedersen RS, Boisen MK, Liljefors M, Johansen AZ, Johansen JS, Karsdal MA, Willumsen N. BMC Cancer. 2023 Oct 6; 23(1):949. Epub 2023 Oct 6.
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry. [Acta Ophthalmol. 2024]
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Turunen JA, Tuisku IS, Repo P, Mörtenhumer S, Kawan S, Järvinen RS, Korsbäck A, Immonen AT, Kivelä TT. Acta Ophthalmol. 2024 May; 102(3):296-305. Epub 2023 Jun 8.

RefSeq genomic sequence
See the genomic reference sequence for the COL17A1 gene (NG_007069.1).
RefSeq protein
See the reference protein sequence for collagen alpha-1(XVII) chain (NP_000485.3).

PubMed
PubMed articles cited by protein sequence record
Taxonomy
Taxonomy sequences associated with protein record
BioSystems
BioSystems
CDD Search Results
Display conserved domains within a protein
Conserved Domains (Concise)
Link to a concise list of conserved domains in a protein
Conserved Domains (Full)
Link to conserved domains within a protein
Domain Relatives
Display proteins with similar conserved domain architecture
Full text in PMC
Free full text articles in PMC
Gene
Link to related Genes
OMIM
OMIM records associated with protein sequence
Protein (RefSeq)
Protein gi (UniProtKB) to protein gi (refseq)
PubMed (Weighted)
Links to pubmed
Related Structures (List)
List of related structures

Q9UMD9 [Domain Mapping of Disease Mut...]
Q9UMD9
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Collagen alpha-1(XVII) chain; AltName: Full=180 kDa bullous pemphi...
RecName: Full=Collagen alpha-1(XVII) chain; AltName: Full=180 kDa bullous pemphigoid antigen 2; AltName: Full=Bullous pemphigoid antigen 2; Contains: RecName: Full=120 kDa linear IgA disease antigen; AltName: Full=120 kDa linear IgA dermatosis antigen; AltName: Full=Linear IgA disease antigen 1; Short=LAD-1; Contains: RecName: Full=97 kDa linear IgA disease antigen; AltName: Full=97 kDa linear IgA bullous dermatosis antigen; Short=97 kDa LAD antigen; Short=97-LAD; AltName: Full=Linear IgA bullous disease antigen of 97 kDa; Short=LABD97
gi|146345399|sp|Q9UMD9.3|COHA1_HUMA

Protein

Your browsing activity is empty.

Activity recording is turned off.

Protein