COL28A1 (collagen type XXVIII alpha 1 chain)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
340267
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type XXVIII alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL28A1
Synonyms (NCBI Gene) Gene synonyms aliases
COL28
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p21.3
Summary Summary of gene provided in NCBI Entrez Gene.
COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005201 Function Extracellular matrix structural constituent IBA 21873635
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
GO:0005604 Component Basement membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609996 22442 ENSG00000215018
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q2UY09
Protein name Collagen alpha-1(XXVIII) chain
Protein function May act as a cell-binding protein.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00092 VWA 48 → 226 von Willebrand factor type A domain Domain
PF01391 Collagen 241 → 305 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 274 → 337 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 534 → 591 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 728 → 777 Collagen triple helix repeat (20 copies) Repeat
PF00092 VWA 798 → 974 von Willebrand factor type A domain Domain
PF00014 Kunitz_BPTI 1071 → 1123 Kunitz/Bovine pancreatic trypsin inhibitor domain Domain
Sequence 
MWNRYFVFYLLLLSAFTSQTVSGQRKKGPKSNLLARKSDVQGSICFIDIVFIVDSSESSK
IALFDKQKDFVDSLSDKIFQLTPGRSLEYDIKLAALQFSSSVQIDPPFSSWKDLQTFKQK
VKSMNLIGQGTFSYYAISNATRLLKREGRKDGVKVVLLMTDGIDHPKNPDVQSISEDARI
SGISFITIALSTVVNEAKLRLISGDSSSEPTLLLSDPTLVDKIQDRLDILFEKKCERKIC
ECEKGDPGDPGPPGTHGNPGIKGERGPKGNPGNAQKGEAGERGPGGIPGYKGDKGERGEC
GKPGIKGDKGSPGPYGPKGPRGIQGITGPPGDPGPKGFQGNKGEPGPPGPYGSPGAPGIG
QQGIKGERGQEGRPGAPGPIGVGEPGQPGPRGPEGVPGERGLPGEGFPGPKGEKGSEGPT
GPQGLQGLSIKGEKGDIGPVGPQGPMGIPGIGSQGEQGIQGPIGPPGPQGPAGQGLPGSK
GEVGQMGPTGPRGPVGIGVQGPKGEPGSIGLPGQPGVPGEDGAAGKKGEAGLPGARGPEG
PPGKGQPGPKGDEGKKGSKGNQGQRGLPGPEGPKGEPGIMGPFGMPGTSIPGPPGPKGDR
GGPGIPGFKGEPGLSIRGPKGVQGPRGPVGAPGLKGDGYPGVPGPRGLPGPPGPMGLRGV
GDTGAKGEPGVRGPPGPSGPRGVGTQGPKGDTGQKGLPGPPGPPGYGSQGIKGEQGPQGF
PGPKGTMGHGLPGQKGEHGERGDVGKKGDKGEIGEPGSPGKQGLQGPKGDLGLTKEEIIK
LITEICGCGPKCKETPLELVFVIDSSESVGPENFQIIKNFVKTMADRVALDLATARIGII
NYSHKVEKVANLKQFSSKDDFKLAVDNMQYLGEGTYTATALQAANDMFEDARPGVKKVAL
VITDGQTDSRDKEKLTEVVKNASDTNVEIFVIGVVKKNDPNFEIFHKEMNLIATDPEHVY
QFDDFFTLQDTLKQKLFQKICEDFDSYLVQIFGSSSPQPGFGMSGEELSESTPEPQKEIS
ESLSVTRDQDEDDKAPEPTWADDLPATTSSEATTTPRPLLSTPVDGAEDPRCLEALKPGN
CGEYVVRWYYDKQVNSCARFWFSGCNGSGNRFNSEKECQETCIQG
Sequence length 1125
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Protein digestion and absorption   Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Frontotemporal dementia Frontotemporal dementia rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092
View all (31 more)		 29724592
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Dementia Dementia GWAS
Oligodendroglioma Oligodendroglioma GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Glioblastoma Associate 30628650
Schizophrenia Associate 35301265