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Gene: MKS1 (MKS transition zone complex subunit 1) Homo sapiens
Symbol: MKS1
Name: MKS transition zone complex subunit 1
Description: Involved in cilium assembly. Localizes to the centrosome; ciliary basal body; and cytoplasm. Implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BBS13; FABB proteome-like protein; FLJ20345; JBTS28; Meckel syndrome type 1; Meckel syndrome type 1 protein; Meckel syndrome, type 1; MES; MKS; POC12; POC12 centriolar protein homolog
Mus musculus (house mouse) : Mks1 (MKS transition zone complex subunit 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Mks1 (MKS transition zone complex subunit 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Mks1 (MKS transition zone complex subunit 1)
Pan paniscus (bonobo/pygmy chimpanzee) : MKS1 (MKS transition zone complex subunit 1)
Canis lupus familiaris (dog) : MKS1 (MKS transition zone complex subunit 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Mks1 (MKS transition zone complex subunit 1)
Sus scrofa (pig) : MKS1 (MKS transition zone complex subunit 1)
Chlorocebus sabaeus (African green monkey) : MKS1 (MKS transition zone complex subunit 1)
Heterocephalus glaber (naked mole-rat) : Mks1 (MKS transition zone complex subunit 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 Ensembl1758,205,441 - 58,219,605 (-)EnsemblGRCh38hg38GRCh38
GRCh38 Ensembl1758,205,437 - 58,219,605 (-)EnsemblGRCh38hg38GRCh38
GRCh381758,205,436 - 58,219,605 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371756,282,797 - 56,296,966 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361753,637,797 - 53,651,665 (-)NCBINCBI36hg18NCBI36
Celera1752,744,576 - 52,758,745 (-)NCBI
Cytogenetic Map17q22NCBI
HuRef1751,643,618 - 51,657,787 (-)NCBIHuRef
CHM1_11756,347,849 - 56,361,992 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on MKS1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1352123
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.