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    BICC1 BicC family RNA binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 80114, updated on 6-Jun-2017
    Official Symbol
    BICC1provided by HGNC
    Official Full Name
    BicC family RNA binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:19351
    See related
    Ensembl:ENSG00000122870 MIM:614295; Vega:OTTHUMG00000018271
    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
    BICC; CYSRD
    Summary
    This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]
    Orthologs
    Location:
    10q21.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (58512970..58831437)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (60272774..60591194)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378316 Neighboring gene transcription factor A, mitochondrial Neighboring gene uncharacterized LOC107984234 Neighboring gene family with sequence similarity 133, member A pseudogene Neighboring gene RNA, 7SK small nuclear pseudogene 196 Neighboring gene long intergenic non-protein coding RNA 844

    • 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
    Renal dysplasia diffuse cystic
    MedGen: C1832471 OMIM: 601331 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    NHGRI GWA Catalog
    Identification of a candidate gene for astigmatism.
    NHGRI GWA Catalog
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686I21119

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein bicaudal C homolog 1
    Names
    FGFR2-BICC1 fusion kinase protein
    bicaudal C homolog 1

    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_029759.2 RefSeqGene

      Range
      5001..323294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080512.2NP_001073981.1  protein bicaudal C homolog 1

      See identical proteins and their annotated locations for NP_001073981.1

      Status: REVIEWED

      Source sequence(s)
      AC012168, AC023170, AK225427, AY726586, BM972104, BQ014634
      Consensus CDS
      CCDS31206.1
      UniProtKB/Swiss-Prot
      Q9H694
      Related
      ENSP00000362993.3, OTTHUMP00000019636, ENST00000373886.7, OTTHUMT00000048150
      Conserved Domains (3) summary
      cd09520
      Location:872936
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:876933
      SAM; Sterile alpha motif
      cd02394
      Location:134200
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

    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_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      58512970..58831437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540185.2XP_011538487.1  protein bicaudal C homolog 1 isoform X2

      Conserved Domains (3) summary
      cd09520
      Location:896960
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:900957
      SAM; Sterile alpha motif
      cd02394
      Location:158224
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    2. XM_017016678.1XP_016872167.1  protein bicaudal C homolog 1 isoform X5

      Conserved Domains (3) summary
      cd09520
      Location:824888
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:828885
      SAM; Sterile alpha motif
      cd02394
      Location:86152
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    3. XM_011540188.2XP_011538490.2  protein bicaudal C homolog 1 isoform X1

    4. XM_017016677.1XP_016872166.1  protein bicaudal C homolog 1 isoform X3

    5. XM_005270169.4XP_005270226.1  protein bicaudal C homolog 1 isoform X4

      Conserved Domains (3) summary
      cd09520
      Location:825889
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:829886
      SAM; Sterile alpha motif
      cd02394
      Location:87153
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    6. XM_011540189.2XP_011538491.1  protein bicaudal C homolog 1 isoform X6

      Conserved Domains (3) summary
      cd09520
      Location:820884
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:824881
      SAM; Sterile alpha motif
      cd02394
      Location:82148
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
    7. XM_011540190.2XP_011538492.1  protein bicaudal C homolog 1 isoform X7

      Conserved Domains (4) summary
      cd09520
      Location:792856
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:796853
      SAM; Sterile alpha motif
      cd02394
      Location:54120
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...
      cl00098
      Location:143
      KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...
    8. XM_011540191.2XP_011538493.1  protein bicaudal C homolog 1 isoform X8

      Conserved Domains (3) summary
      cd09520
      Location:744808
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:748805
      SAM; Sterile alpha motif
      cd02394
      Location:672
      vigilin_like_KH; K homology RNA-binding domain_vigilin_like. The vigilin family is a large and extended family of multiple KH-domain proteins, including vigilin, also called high density lipoprotein binding protien (HBP), fungal Scp160 and bicaudal-C. Yeast Scp160p has ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      60554682..60872937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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