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TMEM67 transmembrane protein 67 [ Homo sapiens (human) ]

Gene ID: 91147, updated on 8-Jul-2021

Summary

Official Symbol
TMEM67provided by HGNC
Official Full Name
transmembrane protein 67provided by HGNC
Primary source
HGNC:HGNC:28396
See related
Ensembl:ENSG00000164953 MIM:609884
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
MKS3; JBTS6; NPHP11; TNEM67; MECKELIN
Summary
The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]
Expression
Broad expression in testis (RPKM 4.7), thyroid (RPKM 3.1) and 23 other tissues See more
Orthologs
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Genomic context

See TMEM67 in Genome Data Viewer
Location:
8q22.1
Exon count:
35
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (93754844..93832653)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (94767072..94831466)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 12B Neighboring gene RBM12B antisense RNA 1 Neighboring gene RBM12B divergent transcript Neighboring gene MYL12A pseudogene 1 Neighboring gene uncharacterized LOC105375646

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26979

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables filamin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables unfolded protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 negative regulation of centrosome duplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of MKS complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in ciliary membrane TAS
Traceable Author Statement
more info
 
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
meckelin
Names
meckel syndrome type 3 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

  1. NG_009190.1 RefSeqGene

    Range
    5001..69391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_688

mRNA and Protein(s)

  1. NM_001142301.1NP_001135773.1  meckelin isoform 2

    See identical proteins and their annotated locations for NP_001135773.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate splice pattern in the 5' coding region. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010834, AK092244, BC032835, BM310097, DC368894
    UniProtKB/Swiss-Prot
    Q5HYA8
    Conserved Domains (1) summary
    pfam09773
    Location:87914
    Meckelin; Meckelin (Transmembrane protein 67)
  2. NM_153704.6NP_714915.3  meckelin isoform 1 precursor

    See identical proteins and their annotated locations for NP_714915.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AC010834, AK308071, BC031220, BC054338, BM310097
    Consensus CDS
    CCDS6258.2
    UniProtKB/Swiss-Prot
    Q5HYA8
    Related
    ENSP00000389998.3, ENST00000453321.8
    Conserved Domains (1) summary
    pfam09773
    Location:168995
    Meckelin; Meckelin (Transmembrane protein 67)

RNA

  1. NR_024522.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate splice pattern in the 3' UTR. The predicted protein is not represented because the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AC010834, AK308071, BC031220, BC032835
    Related
    ENST00000684149.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    93754844..93832653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517363.3XP_011515665.1  meckelin isoform X3

    Related
    ENSP00000403035.2, ENST00000453906.6
    Conserved Domains (1) summary
    pfam09773
    Location:136701
    Meckelin; Meckelin (Transmembrane protein 67)
  2. XM_024447326.1XP_024303094.1  meckelin isoform X2

    Related
    ENSP00000506985.1, ENST00000683362.1
    Conserved Domains (1) summary
    pfam09773
    Location:1777
    Meckelin; Meckelin (Transmembrane protein 67)
  3. XM_006716686.4XP_006716749.1  meckelin isoform X1

    Related
    ENSP00000508192.1, ENST00000684064.1
    Conserved Domains (1) summary
    pfam09773
    Location:67894
    Meckelin; Meckelin (Transmembrane protein 67)

RNA

  1. XR_001745619.2 RNA Sequence

  2. XR_928360.3 RNA Sequence

  3. XR_928362.3 RNA Sequence

    Related
    ENST00000684023.1
  4. XR_428387.2 RNA Sequence

    Related
    ENST00000682624.1
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