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TMEM67 transmembrane protein 67 [ Homo sapiens (human) ]

Gene ID: 91147, updated on 5-Nov-2017
Official Symbol
TMEM67provided by HGNC
Official Full Name
transmembrane protein 67provided by HGNC
Primary source
HGNC:HGNC:28396
See related
Ensembl:ENSG00000164953 MIM:609884; Vega:OTTHUMG00000153119
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
Location:
8q22.1
Exon count:
35
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (93754844..93832653)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (94767072..94831462)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 12B Neighboring gene uncharacterized LOC105375645 Neighboring gene RBM12B antisense RNA 1 Neighboring gene myosin light chain 12A pseudogene 1 Neighboring gene uncharacterized LOC105375646

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
    Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC26979

Gene Ontology Provided by GOA

Function Evidence Code Pubs
filamin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ciliary basal body-plasma membrane docking TAS
Traceable Author Statement
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of centrosome duplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
MKS complex ISS
Inferred from Sequence or Structural Similarity
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
ciliary membrane IDA
Inferred from Direct Assay
more info
PubMed 
ciliary membrane TAS
Traceable Author Statement
more info
 
ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
meckelin
Names
meckel syndrome type 3 protein

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
    Consensus CDS
    CCDS47893.1
    UniProtKB/Swiss-Prot
    Q5HYA8
    Related
    ENSP00000386966.3, OTTHUMP00000203158, ENST00000409623.7, OTTHUMT00000329642
    Conserved Domains (1) summary
    pfam09773
    Location:87914
    Meckelin; Meckelin (Transmembrane protein 67)
  2. NM_153704.5NP_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, OTTHUMP00000203157, ENST00000453321.7, OTTHUMT00000329641
    Conserved Domains (1) summary
    pfam09773
    Location:168995
    Meckelin; Meckelin (Transmembrane protein 67)

RNA

  1. NR_024522.1 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)
    AK308071, BC031220, BC032835

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011517363.2XP_011515665.1  meckelin isoform X2

    Conserved Domains (1) summary
    pfam09773
    Location:136701
    Meckelin; Meckelin (Transmembrane protein 67)
  2. XM_006716686.3XP_006716749.1  meckelin isoform X1

    Conserved Domains (1) summary
    pfam09773
    Location:67894
    Meckelin; Meckelin (Transmembrane protein 67)

RNA

  1. XR_001745619.1 RNA Sequence

  2. XR_928360.2 RNA Sequence

  3. XR_928362.2 RNA Sequence

  4. XR_428387.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    94807348..94871742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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