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GENE INFORMATION

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Gene name

MKS1 (HGNC Symbol)

Synonyms

BBS13, FLJ20345, MKS, POC12

Description

Meckel syndrome, type 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Chromosome

17 (Chromosome progress)

Cytoband

q22

Chromosome location (bp)

56282803 - 56296966

Ensembl

ENSG00000011143 (version 69.37)

Entrez gene

54903

UniProt

Q9NXB0

neXtProt

NX_Q9NXB0

Antibodypedia

MKS1 antibodies
 

PROTEIN VIEW

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 « 
 
MKS1-001
 
MKS1-002
 
MKS1-003
 
MKS1-004
 
MKS1-005
 
MKS1-007
 
MKS1-008
 
MKS1-010
 
MKS1-011
 
MKS1-012
 
MKS1-201
 
MKS1-202
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MKS1-001 ENSP00000442096
ENST00000537529
F5H885
Show all »
Show » Show » 549 63.3 No 0
MKS1-002 ENSP00000316631
ENST00000313863
H0Y2S2
Show all »
456 52.8 No 0
MKS1-003 ENSP00000376827
ENST00000393119
Q9NXB0
Show all »
Show » Show » 559 64.5 No 0
MKS1-004 ENSP00000376828
ENST00000393120
Q9NXB0
Show all »
Show » Show » 164 19.2 No 0
MKS1-005 ENSP00000462411
ENST00000578789
48 5.5 No 0
MKS1-007 ENSP00000462129
ENST00000581761
121 13.6 No 0
MKS1-008 ENSP00000462423
ENST00000580127
146 17.1 No 0
MKS1-010 ENSP00000463826
ENST00000585134
211 24.2 No 0
MKS1-011 ENSP00000462179
ENST00000577315
117 13.3 No 0
MKS1-012 ENSP00000462460
ENST00000577824
228 25.7 No 0
MKS1-201 ENSP00000338407
ENST00000337050
A8MPP8
Show all »
Show » 521 60 No 0
MKS1-202 ENSP00000443012
ENST00000546108
F5H5Y8
Show all »
Show » Show » 356 40.7 No 0