COL6A1
entrez
1291
canonical
uniprot
P12109
canonical
ensembl
ENSG00000142156
resolver
ensp
ENSP00000355180
resolver
enst
ENST00000361866
resolver
genesymbol
COL6A1
resolver
hgnc
HGNC:2211
resolver
uniprot
A0A384P5H7
resolver
uniprot
O00117
resolver
uniprot
O00118
resolver
uniprot
Q14040
resolver
uniprot
Q14041
resolver
uniprot
Q16258
resolver
uniprot
Q7Z645
resolver
uniprot
Q9BSA8
resolver
uniprot_entry
A0A384P5H7_HUMAN
resolver
uniprot_entry
CO6A1_HUMAN
resolver
uniprot_sec
O00117
resolver
uniprot_sec
O00118
resolver
uniprot_sec
Q14040
resolver
uniprot_sec
Q14041
resolver
uniprot_sec
Q16258
resolver
uniprot_sec
Q7Z645
resolver
uniprot_sec
Q9BSA8
resolver
amino_acid_sequence
MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKRFIDNLRDRYYRCDRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAKHLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGLPGEKGEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGPKGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGAPGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRGDEGPPGSEGARGAPGPAGPPGDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTKGYPGLKGDEGEAGDPGDDNNDIAPRGVKGAKGYRGPEGPQGPPGHQGPPGPDECEILDIIMKMCSCCECKCGPIDLLFVLDSSESIGLQNFEIAKDFVVKVIDRLSRDELVKFEPGQSYAGVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGGTFTGEALQYTRDQLLPPSPNNRIALVITDGRSDTQRDTTPLNVLCSPGIQVVSVGIKDVFDFIPGSDQLNVISCQGLAPSQGRPGLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASVGSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTALASAVDAMDFINDATDVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQEAQRAGIEIFVVVVGRQVNEPHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQTVSRKVALG
uniprot
proteins
disease_involvement
DISEASE: Bethlem myopathy 1A (BTHLM1A) [MIM:158810]: A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:11865138, ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:15955946, ECO:0000269|PubMed:8782832}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ullrich congenital muscular dystrophy 1A (UCMD1A) [MIM:254090]: A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:16130093, ECO:0000269|PubMed:17785674}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Collagen VI acts as a cell-binding protein.
uniprot
proteins
mass_dalton
108529
uniprot
proteins
post_translational_modification
PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
uniprot
proteins
protein_family
Type VI collagen family
uniprot
proteins
pubmed
11865138
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15689448
uniprot
proteins
pubmed
15955946
uniprot
proteins
pubmed
16130093
uniprot
proteins
pubmed
1765372
uniprot
proteins
pubmed
17785674
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22905912
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2551668
uniprot
proteins
pubmed
30345904
uniprot
proteins
pubmed
3198591
uniprot
proteins
pubmed
3348212
uniprot
proteins
pubmed
3665927
uniprot
proteins
pubmed
6852033
uniprot
proteins
pubmed
8168508
uniprot
proteins
pubmed
8782832
uniprot
proteins
pubmed
9107679
uniprot
proteins
sequence_length
1028
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
uniprot
proteins