MKS1 MKS transition zone complex subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MKS1provided by HGNC
Official Full Name: MKS transition zone complex subunit 1provided by HGNC
Primary source: HGNC:HGNC:7121
See related: Ensembl:ENSG00000011143 MIM:609883; AllianceGenome:HGNC:7121
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MES; MKS; BBS13; POC12; JBTS28
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]
Expression: Ubiquitous expression in testis (RPKM 6.0), ovary (RPKM 4.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q22

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (58205441..58219255, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (59073328..59087136, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (56282802..56296616, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins.
Title: Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins.
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.
Title: Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
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
Title: Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.
MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content.
Title: MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome
Title: Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia.
Title: Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1, MKSR-2), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins
Title: Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
Mutations in MKS1 is associated with Bardet-Biedl syndrome
Title: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Observational study of genotype prevalence. (HuGE Navigator)
Title: A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bardet-Biedl syndrome 13 MedGen: C2673873 OMIM: 615990 GeneReviews: Bardet-Biedl Syndrome Overview	Compare labs
Joubert syndrome 28 MedGen: C4310705 OMIM: 617121 GeneReviews: Joubert Syndrome	Compare labs
Meckel syndrome, type 1 MedGen: C3714506 OMIM: 249000 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_12093-12094:1004642557:1 (e-PCR)
- UniSTS:267336

WI-11807 (e-PCR)
- UniSTS:4784

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in branching morphogenesis of an epithelial tube	IEA Inferred from Electronic Annotation more info
involved_in cardiac septum morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in common bile duct development	IEA Inferred from Electronic Annotation more info
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
involved_in embryonic brain development	IEA Inferred from Electronic Annotation more info
involved_in embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in epithelial structure maintenance	IEA Inferred from Electronic Annotation more info
involved_in head development	IEA Inferred from Electronic Annotation more info
involved_in inner ear receptor cell stereocilium organization	IEA Inferred from Electronic Annotation more info
involved_in motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in neural tube closure	IEA Inferred from Electronic Annotation more info
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of Wnt signaling pathway, planar cell polarity pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of MKS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MKS complex	ISS Inferred from Sequence or Structural Similarity more info
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tectonic-like complex member MKS1

Names: POC12 centriolar protein homolog; meckel syndrome type 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013032.1 RefSeqGene

Range

5001..19170

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_687

mRNA and Protein(s)

NM_001321268.2 → NP_001308197.1 tectonic-like complex member MKS1 isoform 3

Status: REVIEWED

Source sequence(s)

AK000352, AK301020, BE327525, DQ185029

UniProtKB/TrEMBL

B4DVC5

Related

ENSP00000442096.3, ENST00000537529.7

Conserved Domains (1) summary

pfam07162
Location:116 → 289

B9-C2; Ciliary basal body-associated, B9 protein
NM_001321269.2 → NP_001308198.1 tectonic-like complex member MKS1 isoform 4

Status: REVIEWED

Source sequence(s)

AK000352, BE327525, DQ185029

Consensus CDS

CCDS92364.1

UniProtKB/TrEMBL

A0A7I2V2M0

Related

ENSP00000502984.1, ENST00000678463.1

Conserved Domains (1) summary

pfam07162
Location:319 → 462

B9-C2; Ciliary basal body-associated, B9 protein
NM_001330397.2 → NP_001317326.1 tectonic-like complex member MKS1 isoform 5

Status: REVIEWED

Source sequence(s)

AC005962, BE327525

Consensus CDS

CCDS82170.1

UniProtKB/TrEMBL

H0Y2S2, J3QQP4

Related

ENSP00000316631.6, ENST00000313863.11
NM_001411113.1 → NP_001398042.1 tectonic-like complex member MKS1 isoform 6

Status: REVIEWED

Source sequence(s)

AC005962

Consensus CDS

CCDS92365.1

UniProtKB/TrEMBL

J3KSC6

Related

ENSP00000462423.2, ENST00000580127.6
NM_017777.4 → NP_060247.2 tectonic-like complex member MKS1 isoform 1

See identical proteins and their annotated locations for NP_060247.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.

Source sequence(s)

AK000352, BE327525, DQ185029

Consensus CDS

CCDS11603.2

UniProtKB/Swiss-Prot

B7WNX4, F5H885, Q284T0, Q96G13, Q9NXB0

UniProtKB/TrEMBL

A0A7I2V4C1

Related

ENSP00000376827.2, ENST00000393119.7

Conserved Domains (1) summary

pfam07162
Location:319 → 492

B9-C2; Ciliary basal body-associated, B9 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

58205441..58219255 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524957.3 → XP_011523259.1 tectonic-like complex member MKS1 isoform X1

Conserved Domains (1) summary

pfam07162
Location:322 → 465

B9-C2; Ciliary basal body-associated, B9 protein
XM_011524958.3 → XP_011523260.1 tectonic-like complex member MKS1 isoform X2

UniProtKB/TrEMBL

A0A7I2V4C1

Conserved Domains (1) summary

pfam07162
Location:322 → 495

B9-C2; Ciliary basal body-associated, B9 protein
XM_005257485.5 → XP_005257542.1 tectonic-like complex member MKS1 isoform X4

Conserved Domains (1) summary

pfam07162
Location:176 → 319

B9-C2; Ciliary basal body-associated, B9 protein
XM_047436333.1 → XP_047292289.1 tectonic-like complex member MKS1 isoform X5
XM_011524960.3 → XP_011523262.1 tectonic-like complex member MKS1 isoform X3

UniProtKB/TrEMBL

J3QQP4

Conserved Domains (1) summary

pfam07162
Location:322 → 427

B9-C2; Ciliary basal body-associated, B9 protein
XM_047436335.1 → XP_047292291.1 tectonic-like complex member MKS1 isoform X7

Related

ENSP00000462129.2, ENST00000581761.6
XM_047436334.1 → XP_047292290.1 tectonic-like complex member MKS1 isoform X6

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

59073328..59087136 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316580.1 → XP_054172555.1 tectonic-like complex member MKS1 isoform X1
XM_054316581.1 → XP_054172556.1 tectonic-like complex member MKS1 isoform X2
XM_054316583.1 → XP_054172558.1 tectonic-like complex member MKS1 isoform X4
XM_054316584.1 → XP_054172559.1 tectonic-like complex member MKS1 isoform X5
XM_054316582.1 → XP_054172557.1 tectonic-like complex member MKS1 isoform X3
XM_054316586.1 → XP_054172561.1 tectonic-like complex member MKS1 isoform X7
XM_054316585.1 → XP_054172560.1 tectonic-like complex member MKS1 isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001165927.1: Suppressed sequence

Description

NM_001165927.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.