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    FAM126A family with sequence similarity 126 member A [ Homo sapiens (human) ]

    Gene ID: 84668, updated on 8-May-2017
    Official Symbol
    FAM126Aprovided by HGNC
    Official Full Name
    family with sequence similarity 126 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:24587
    See related
    Ensembl:ENSG00000122591 MIM:610531; Vega:OTTHUMG00000128435
    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
    HCC; HLD5; HYCC1; DRCTNNB1A
    Summary
    The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
    Orthologs
    Location:
    7p15.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (22895848..23014195, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (22980878..23053814, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 93 Neighboring gene uncharacterized LOC107986776 Neighboring gene ribosomal protein L12 pseudogene 10 Neighboring gene uncharacterized LOC105375185 Neighboring gene uncharacterized LOC105375186

    • 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?

    Associated conditions

    Description Tests
    Hypomyelination and Congenital Cataract Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog
    Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    establishment of protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    hyccin
    Names
    down regulated by Ctnnb1, a
    down-regulated by CTNNB1 protein A

    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_008392.1 RefSeqGene

      Range
      5001..77893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032581.3NP_115970.2  hyccin

      See identical proteins and their annotated locations for NP_115970.2

      Status: REVIEWED

      Source sequence(s)
      AA811006, AL833296, BC018710, DB099987
      Consensus CDS
      CCDS5377.1
      UniProtKB/Swiss-Prot
      Q9BYI3
      Related
      ENSP00000403396.2, OTTHUMP00000158548, ENST00000432176.6, OTTHUMT00000250230
      Conserved Domains (1) summary
      pfam09790
      Location:22330
      Hyccin; Hyccin

    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_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      22895848..23014195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515590.1XP_011513892.1  hyccin isoform X4

      Conserved Domains (1) summary
      pfam09790
      Location:22330
      Hyccin; Hyccin
    2. XM_005249895.2XP_005249952.1  hyccin isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z6M9
      Conserved Domains (1) summary
      pfam09790
      Location:22330
      Hyccin; Hyccin
    3. XM_005249894.3XP_005249951.1  hyccin isoform X2

      See identical proteins and their annotated locations for XP_005249951.1

      UniProtKB/Swiss-Prot
      Q9BYI3
      Related
      ENSP00000386246.1, OTTHUMP00000202017, ENST00000409923.5, OTTHUMT00000326866
      Conserved Domains (1) summary
      pfam09790
      Location:22330
      Hyccin; Hyccin
    4. XM_011515589.2XP_011513891.1  hyccin isoform X1

      See identical proteins and their annotated locations for XP_011513891.1

      UniProtKB/Swiss-Prot
      Q9BYI3
      Conserved Domains (1) summary
      pfam09790
      Location:22330
      Hyccin; Hyccin

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      22981792..23054656 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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