| Type | Description |
|---|---|
| Definition | collagen type XIII alpha 1 chain |
| Date | Results | Publications |
|---|---|---|
| 2020-05-16 10:06:00 | Data suggest that ColXIII has a role in age-dependent cortical bone deterioration with possible implications for osteoporosis and fracture risk. | 31220558 |
| 2020-03-14 11:53:00 | patients with COL13A1 mutations present mostly with severe early-onset myasthenic syndrome with feeding and breathing difficulties | 31081514 |
| 2019-08-17 10:14:00 | The data of this study support the causality of COL13A1 variants for Congenital myasthenic syndrome. | 30767057 |
| 2019-06-01 10:16:00 | Results indicate a function of collagen XIII in promoting cancer metastasis, cell invasion, and anoikis resistance. | 30285809 |
| 2019-03-16 10:47:00 | The authors report a congenital myasthenic syndrome due to mutations in COL13A1, which encodes an extracellular matrix protein that is concentrated at the neuromuscular junction and highlights a role for these extracellular matrix proteins in maintaining synaptic stability that is independent of the AGRN/MuSK clustering pathway. | 29363764 |
| Type | IDs |
|---|---|
| Synonymous | CMS19, COLXIIIA1 |
| Gene |
UniProtKB-ID:
CODA1_HUMAN
UniprotKB:
Q5TAT6
UniParc:
UPI0000EE047D,
UPI000046FD74,
UPI0000F6E6D6,
UPI0001CA7E68,
UPI000192C3E9,
UPI0000F6E6D3,
UPI000046FD72,
UPI0000F6E6D7,
UPI0000F6E6D8,
UPI0000F6E6D5,
UPI0000F6E6D4
EMBL:
M20799,
M20795,
AJ293624,
M20804,
M20805,
M15524,
M20800,
AC024601,
M20797,
AC025426,
M59217,
M20796,
M20801,
AL138925,
BC136385,
M33653,
M20802,
M20798,
M20803
Ensembl:
ENSG00000197467
KO:
hsa:1305
|
| Nucleutide sequences |
EMBL-CDS:
AAA51990.1,
AAI36386.1,
AAA51991.1,
AAA51988.1,
AAA51987.1,
AAA52048.1,
AAA52047.1,
AAA51989.1,
AAA51685.1,
CAC00688.1
Ensembl_TRS:
ENST00000398978,
ENST00000520133,
ENST00000354547,
ENST00000520267,
ENST00000522165,
ENST00000517713
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000430173,
ENSP00000381949,
ENSP00000428057,
ENSP00000428342,
ENSP00000430061,
ENSP00000346553
RefSeq:
XP_016871169.1,
NP_001307880.1,
XP_016871165.1,
XP_016871178.1,
NP_001355812.1,
XP_016871180.1,
XP_016871166.1,
XP_016871170.1,
NP_001355825.1,
XP_024303584.1,
XP_016871171.1,
NP_001355824.1,
XP_016871174.1,
XP_016871184.1,
XP_016871175.1,
NP_542992.3,
NP_001355815.1,
NP_542991.3,
XP_011537596.1,
NP_001123575.1,
XP_016871176.1,
XP_016871173.1,
NP_542990.3,
NP_001355827.1,
NP_001355814.1,
XP_016871168.1,
NP_542995.3,
NP_542988.3,
XP_024303583.1,
NP_001355813.1,
XP_016871182.1,
XP_011537595.1,
NP_001355811.1,
XP_011537597.1,
NP_001355826.1
|
| Others |
UniRef100:
UniRef100_Q5TAT6
UniRef90:
UniRef90_Q5TAT6
UniRef50:
UniRef50_Q5TAT6
UniGene:
Hs.695934
CCDS:
CCDS44423.2,
CCDS44428.2,
CCDS44424.2,
CCDS44419.1,
CCDS44427.2,
CCDS44425.2
|
| {{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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