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    FAM189B family with sequence similarity 189 member B [ Homo sapiens (human) ]

    Gene ID: 10712, updated on 5-Aug-2018

    Summary

    Official Symbol
    FAM189Bprovided by HGNC
    Official Full Name
    family with sequence similarity 189 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:1233
    See related
    Ensembl:ENSG00000160767 Vega:OTTHUMG00000035844
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COTE1; C1orf2
    Summary
    This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in fat (RPKM 4.9), testis (RPKM 4.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See FAM189B in Genome Data Viewer
    Location:
    1q22
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (155247205..155255892, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155216996..155225274, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GBAP1 recombination region Neighboring gene metaxin 1 Neighboring gene glucosylceramidase beta pseudogene 1 Neighboring gene GBA recombination region Neighboring gene metaxin 1 pseudogene 1 Neighboring gene glucosylceramidase beta Neighboring gene secretory carrier membrane protein 3 Neighboring gene CDC like kinase 2

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    WW domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001267608.1NP_001254537.1  protein FAM189B isoform c

      See identical proteins and their annotated locations for NP_001254537.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform c which is shorter than isoform 1.
      Source sequence(s)
      AF070550, AL713999, BC033707
      Consensus CDS
      CCDS58035.1
      UniProtKB/Swiss-Prot
      P81408
      UniProtKB/TrEMBL
      Q9Y6J7
      Related
      ENSP00000357352.3, OTTHUMP00000033999, ENST00000368368.7, OTTHUMT00000087227
      Conserved Domains (1) summary
      pfam04103
      Location:36177
      CD20; CD20-like family
    2. NM_006589.2NP_006580.2  protein FAM189B isoform a

      See identical proteins and their annotated locations for NP_006580.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform a).
      Source sequence(s)
      AK093335, BC006493, BC040136
      Consensus CDS
      CCDS1103.1
      UniProtKB/Swiss-Prot
      P81408
      Related
      ENSP00000354958.2, OTTHUMP00000033996, ENST00000361361.6, OTTHUMT00000087224
      Conserved Domains (1) summary
      pfam04103
      Location:36196
      CD20; CD20-like family
    3. NM_198264.1NP_937995.1  protein FAM189B isoform b

      See identical proteins and their annotated locations for NP_937995.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame portion of the 5' coding region compared to variant 1. The resulting protein (isoform b) is shorter than isoform a.
      Source sequence(s)
      AK093335, BC040136
      Consensus CDS
      CCDS1104.1
      UniProtKB/Swiss-Prot
      P81408
      Related
      ENSP00000307128.4, OTTHUMP00000033997, ENST00000350210.6, OTTHUMT00000087225
      Conserved Domains (1) summary
      pfam04103
      Location:36110
      CD20; CD20-like family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      155247205..155255892 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005244845.2XP_005244902.1  protein FAM189B isoform X1

      See identical proteins and their annotated locations for XP_005244902.1

      UniProtKB/Swiss-Prot
      P81408
      Conserved Domains (1) summary
      pfam04103
      Location:36196
      CD20; CD20-like family

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NW_003315906.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      52228..60506 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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