U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    TMC1 transmembrane channel like 1 [ Homo sapiens (human) ]

    Gene ID: 117531, updated on 17-Jun-2024

    Summary

    Official Symbol
    TMC1provided by HGNC
    Official Full Name
    transmembrane channel like 1provided by HGNC
    Primary source
    HGNC:HGNC:16513
    See related
    Ensembl:ENSG00000165091 MIM:606706; AllianceGenome:HGNC:16513
    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
    DFNB7; DFNA36; DFNB11
    Summary
    This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TMC1 in Genome Data Viewer
    Location:
    9q21.13
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (72521608..72838297)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (84672507..84989215)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (75136524..75453213)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S12 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28459 Neighboring gene Sharpr-MPRA regulatory region 9116 Neighboring gene uncharacterized LOC105376080 Neighboring gene uncharacterized LOC101927234 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:75139667-75140228 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:75140229-75140790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28460 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28461 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:75166586-75167086 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:75172238-75173437 Neighboring gene uncharacterized LOC101927191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28462 Neighboring gene ribosomal protein S20 pseudogene 24 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:75295411-75296186 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:75299935-75300148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28463 Neighboring gene RPS27A pseudogene 15 Neighboring gene uncharacterized LOC124902181 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:75472952-75474151 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:75477204-75478403 Neighboring gene long intergenic non-protein coding RNA 1474

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of transmembrane channel-like 1 (TMC1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mechanosensitive monoatomic ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in auditory receptor cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of mechanical stimulus involved in sensory perception of sound IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vestibular reflex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in stereocilium tip IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transmembrane channel-like protein 1
    Names
    transmembrane cochlear-expressed protein 1
    transmembrane, cochlear expressed, 1

    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_008213.1 RefSeqGene

      Range
      4808..321497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_138691.3NP_619636.2  transmembrane channel-like protein 1

      See identical proteins and their annotated locations for NP_619636.2

      Status: REVIEWED

      Source sequence(s)
      AF417578, AL162416, AL591662, BC114449, HY031448
      Consensus CDS
      CCDS6643.1
      UniProtKB/Swiss-Prot
      A8MVZ2, B1AM91, Q8TDI8
      UniProtKB/TrEMBL
      Q3MI88
      Related
      ENSP00000297784.6, ENST00000297784.10
      Conserved Domains (1) summary
      pfam07810
      Location:520626
      TMC; TMC domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      72521608..72838297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014256.2XP_016869745.1  transmembrane channel-like protein 1 isoform X1

      UniProtKB/TrEMBL
      Q3MI88

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      84672507..84989215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361949.1XP_054217924.1  transmembrane channel-like protein 1 isoform X1

      UniProtKB/TrEMBL
      Q3MI88