| Type | Description |
|---|---|
| Definition | MKS transition zone complex subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2017-10-28 12:00:00 | we have described a pathogenic variant in the MKS1 resulting in a mild Joubert syndrome phenotype, which broadens the spectrum of mutations in the MKS1. | 27570071 |
| 2017-07-22 10:07:00 | Dnah11(avc)(4) did not disrupt SHF Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans | 27340223 |
| 2016-10-22 12:18:00 | MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content. | 26490104 |
| 2014-11-22 13:01:00 | describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome | 24886560 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 21068128 |
| Type | IDs |
|---|---|
| Synonymous | BBS13, JBTS28, MES, MKS, POC12 |
| Gene |
UniProtKB-ID:
MKS1_HUMAN,
H0Y2S2_HUMAN,
A0A0S2Z5Z2_HUMAN,
B4DVC5_HUMAN
UniprotKB:
Q9NXB0,
H0Y2S2,
A0A0S2Z5Z2,
B4DVC5
UniParc:
UPI00017A7EC8,
UPI00005A75DE,
UPI0000E0384E,
UPI0000071C60,
UPI00002010BB,
UPI0000D4D7CD
EMBL:
AK000352,
AC005962,
BC010061,
AK310815,
AK301020,
DQ185029,
CR457229,
KU178663
Ensembl:
ENSG00000011143
KO:
hsa:54903
|
| Nucleutide sequences |
EMBL-CDS:
CAG33510.1,
AAZ94714.1,
BAA91105.1,
AAH10061.1,
ALQ34121.1,
BAG62637.1
Ensembl_TRS:
ENST00000393119,
ENST00000537529,
ENST00000313863
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000442096,
ENSP00000376827,
ENSP00000316631
RefSeq:
NP_001159399.1,
NP_001317326.1,
XP_005257542.1,
XP_011523261.1,
XP_011523259.1,
XP_011523260.1,
XP_011523262.1,
XP_006722028.1,
NP_060247.2,
XP_016880294.1,
NP_001308197.1,
NP_001308198.1,
XP_016880293.1
|
| Others |
UniRef100:
UniRef100_H0Y2S2,
UniRef100_A0A0S2Z5Z2,
UniRef100_Q9NXB0,
UniRef100_B4DVC5
UniRef90:
UniRef90_A0A2K6A192,
UniRef90_B4DVC5,
UniRef90_Q9NXB0,
UniRef90_Q9NXB0-3
UniRef50:
UniRef50_Q9NXB0,
UniRef50_B4DVC5
UniGene:
Hs.408843
CCDS:
CCDS54148.1,
CCDS11603.2
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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