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    TMEM107 transmembrane protein 107 [ Homo sapiens (human) ]

    Gene ID: 84314, updated on 11-Jun-2021

    Summary

    Official Symbol
    TMEM107provided by HGNC
    Official Full Name
    transmembrane protein 107provided by HGNC
    Primary source
    HGNC:HGNC:28128
    See related
    Ensembl:ENSG00000179029 MIM:616183
    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
    MKS13; JBTS29; GRVS638; PRO1268
    Summary
    This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.3), bone marrow (RPKM 5.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See TMEM107 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (8172457..8176380, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8075775..8079698, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene period circadian regulator 1 Neighboring gene microRNA 6883 Neighboring gene vesicle associated membrane protein 2 Neighboring gene uncharacterized LOC105371520 Neighboring gene small nucleolar RNA, C/D box 118 Neighboring gene tRNA-Trp (anticodon CCA) 3-3 Neighboring gene tRNA-Ser (anticodon GCT) 4-3 Neighboring gene microRNA 4521

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC10744

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in craniofacial suture morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of nodal flow IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of MKS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of MKS complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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_054916.1 RefSeqGene

      Range
      5032..8955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351278.2NP_001338207.1  transmembrane protein 107 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC129492, BC070231
      Consensus CDS
      CCDS86572.1
      Related
      ENSP00000436674.1, ENST00000533070.5
      Conserved Domains (1) summary
      pfam14995
      Location:7128
      TMEM107; Transmembrane protein
    2. NM_001351279.2NP_001338208.1  transmembrane protein 107 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC129492
      Conserved Domains (1) summary
      pfam14995
      Location:7122
      TMEM107; Transmembrane protein
    3. NM_001351280.2NP_001338209.1  transmembrane protein 107 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC129492
      Consensus CDS
      CCDS86571.1
      Related
      ENSP00000389420.2, ENST00000431792.2
      Conserved Domains (1) summary
      pfam14995
      Location:769
      TMEM107; Transmembrane protein
    4. NM_032354.5NP_115730.2  transmembrane protein 107 isoform 1

      See identical proteins and their annotated locations for NP_115730.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC129492, AF311338
      Consensus CDS
      CCDS11132.1
      UniProtKB/Swiss-Prot
      Q6UX40
      Related
      ENSP00000314116.5, ENST00000316425.9
      Conserved Domains (1) summary
      pfam14995
      Location:7135
      TMEM107; Transmembrane protein
    5. NM_183065.4NP_898888.1  transmembrane protein 107 isoform 2

      See identical proteins and their annotated locations for NP_898888.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC129492, AF311338, BC127649
      Consensus CDS
      CCDS45607.1
      UniProtKB/Swiss-Prot
      Q6UX40
      Related
      ENSP00000402732.2, ENST00000437139.7
      Conserved Domains (1) summary
      pfam14995
      Location:7129
      TMEM107; Transmembrane protein

    RNA

    1. NR_147092.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC129492, BC119731

    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_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      8172457..8176380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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