Collagen, type IV, alpha 1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
collagen, type IV, alpha 1
Protein COL4A1 PDB 1li1.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases COL4A1, HANAC, ICH, POREN1, arresten, BSVD, RATOR, collagen type IV alpha 1
External IDs MGI: 88454 HomoloGene: 20437 GeneCards: 1282
Genetically Related Diseases
Disease Name References
obesity
RNA expression pattern
PBB GE COL4A1 211980 at tn.png

PBB GE COL4A1 211981 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001845
NM_001303110

NM_009931

RefSeq (protein)

NP_001290039.1
NP_001836.3

NP_034061.2

Location (UCSC) Chr 13: 110.15 – 110.31 Mb Chr 8: 11.2 – 11.31 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-1(IV) chain is a protein that in humans is encoded by the COL4A1 gene.[1][2]

Function[edit]

This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter.[2]

Clinical significance[edit]

Mutations in COL4A1 exons 24 and 25 are associated with HANAC (autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps).[3] It has also been confirmed that mutations in the COL4A1 gene occur in some patients with porencephaly and schizencephaly.[4]

References[edit]

  1. ^ Soininen R, Haka-Risku T, Prockop DJ, Tryggvason K (Jan 1988). "Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen". FEBS Lett 225 (1-2): 188–94. doi:10.1016/0014-5793(87)81155-9. PMID 3691802. 
  2. ^ a b "Entrez Gene: COL4A1 collagen, type IV, alpha 1". 
  3. ^ Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P (2007). "COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps". N. Engl. J. Med. 357 (26): 2687–95. doi:10.1056/NEJMoa071906. PMID 18160688. 
  4. ^ Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H (2013). "Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly". Ann. Neurol. 73 (1): 48–57. doi:10.1002/ana.23736. PMID 23225343. 

Further reading[edit]

External links[edit]