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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
    NEW
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    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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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