| Type | Description |
|---|---|
| Definition | collagen type VI alpha 1 chain |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:47:00 | Tendon Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. | 32053901 |
| 2020-11-21 13:24:00 | The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament. | 31939624 |
| 2020-06-27 10:57:00 | A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. | 30895940 |
| 2020-06-13 11:40:00 | Results identified compound heterozygous pathogenic COL6A1 variants (c.[98-6G>A];[301C>T]) in patients presenting with a clinical phenotype overlapping with collagen VI-related myopathies and Ehlers-Danlos syndrome. The COL6A1 variants abolished collagen VI and V deposition and increased tenascin-X levels. | 31273343 |
| 2020-06-06 11:30:00 | The COL6A1 gene rs201153092A site polymorphism is a potential pathogenic mutation in thoracic ossification of the posterior longitudinal ligament. | 31831033 |
| Type | IDs |
|---|---|
| Synonymous | BTHLM1, OPLL, UCHMD1 |
| Gene |
UniProtKB-ID:
CO6A1_HUMAN,
A0A384P5H7_HUMAN
UniprotKB:
P12109,
A0A384P5H7
UniParc:
UPI000019B179
EMBL:
CH471079,
S75412,
S75394,
BC052575,
X15880,
X99136,
X06194,
BC005159,
S75396,
M20776,
S75420,
S75404,
S75418,
S75398,
X99135,
X99109,
S75406,
S75385,
S75400,
S75402,
S75392,
GQ891373,
M27447,
S75410,
S75414,
S75388,
X15879,
S75408,
S75390,
S75416
Ensembl:
ENSG00000142156
KO:
hsa:1291
|
| Nucleutide sequences |
EMBL-CDS:
CAA29555.1,
AAB20835.2,
CAA33889.1,
CAA67559.1,
AAH05159.2,
CAA33888.1,
AAA52055.1,
AAH52575.1,
CAA67576.1,
EAX09322.1,
ADO22235.1
Gene_ORFName:
hCG_401279
Ensembl_TRS:
ENST00000361866
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000355180
RefSeq:
NP_001839.2
|
| Others |
UniRef100:
UniRef100_P12109
UniRef90:
UniRef90_P12109
UniRef50:
UniRef50_P12109
UniGene:
Hs.474053
CCDS:
CCDS13727.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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