| Type | Description |
|---|---|
| Definition | matrilin 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-07-06 12:16:00 | We identified two candidate mutations in COL1A2 and MATN1, which might be affected by the main known mutation in B3GALT6. Our finding replicated a previously identified mutation in KIF22 to be potentially associated with spondyloepimetaphyseal dysplasia with joint laxity. We also show that our identified candidate mutation genes, COL1A2, MATN1 and KIF22, are in a direct biological interaction with B3GALT6. | 30358852 |
| 2018-02-17 10:33:00 | polymorphisms associated with mandibular retrognathism | 29407503 |
| 2014-12-20 12:39:00 | Matrilin-1 is an inhibitor of neovascularization | 24692560 |
| 2014-12-06 12:49:00 | this meta-analysis found an overall significant association of rs1149048 polymorphism with risk of AIS, especially in Asian population. | 24469715 |
| 2012-09-29 10:40:00 | no significant difference in single nucleotide polymorphism between adolescent idiopathic scoliosis cases and controls | 22278929 |
| Type | IDs |
|---|---|
| Synonymous | CMP, CRTM |
| Gene |
UniProtKB-ID:
MATN1_HUMAN
UniprotKB:
P21941
UniParc:
UPI000004F1ED
EMBL:
M55683,
M55677,
M55681,
AK312949,
M55675,
M55680,
AL137857,
M55682,
M55679,
M55676
Ensembl:
ENSG00000162510
KO:
hsa:4146
|
| Nucleutide sequences |
EMBL-CDS:
BAG35790.1,
AAB38702.1,
AAA63904.1
Ensembl_TRS:
ENST00000373765
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000362870
RefSeq:
NP_002370.1
|
| Others |
UniRef100:
UniRef100_P21941
UniRef90:
UniRef90_P21941
UniRef50:
UniRef50_P21941
UniGene:
Hs.150366
CCDS:
CCDS336.1
|
| {{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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