Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    TECTA tectorin alpha [ Homo sapiens (human) ]

    Gene ID: 7007, updated on 25-Aug-2016
    Official Symbol
    TECTAprovided by HGNC
    Official Full Name
    tectorin alphaprovided by HGNC
    Primary source
    HGNC:HGNC:11720
    See related
    Ensembl:ENSG00000109927 HPRD:03985; MIM:602574; Vega:OTTHUMG00000149908
    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
    DFNA8; DFNA12; DFNB21
    Summary
    The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    11q22-q24
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (121102666..121190806)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (120973375..121062202)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor kainate type subunit 4 Neighboring gene uncharacterized LOC101929208 Neighboring gene tubulin folding cofactor E like Neighboring gene uncharacterized LOC105369533 Neighboring gene uncharacterized LOC105369534

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    anchored component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     

    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_011633.1 RefSeqGene

      Range
      5001..93141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005422.2NP_005413.2  alpha-tectorin precursor

      See identical proteins and their annotated locations for NP_005413.2

      Status: REVIEWED

      Source sequence(s)
      AP000646, AP000826
      Consensus CDS
      CCDS8434.1
      UniProtKB/Swiss-Prot
      O75443
      Related
      ENSP00000264037, ENST00000264037
      Conserved Domains (10) summary
      smart00216
      Location:703865
      VWD; von Willebrand factor (vWF) type D domain
      smart00241
      Location:18052057
      ZP; Zona pellucida (ZP) domain
      smart00539
      Location:98254
      NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins
      smart00832
      Location:517591
      C8; This domain contains 8 conserved cysteine residues
      pfam00094
      Location:322478
      VWD; von Willebrand factor type D domain
      pfam00100
      Location:19372057
      Zona_pellucida; Zona pellucida-like domain
      pfam01826
      Location:597650
      TIL; Trypsin Inhibitor like cysteine rich domain
      pfam08742
      Location:12981368
      C8; C8 domain
      pfam14670
      Location:20892121
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl17735
      Location:652706
      VWC; von Willebrand factor type C domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      121102666..121190806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      120860789..120948696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center