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

    Gene ID: 80114, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:19351
    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]
    Expression
    Broad expression in kidney (RPKM 5.8), gall bladder (RPKM 2.9) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BICC1 in Genome Data Viewer
    Location:
    10q21.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (58512220..58831435)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (59367047..59685442)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (60272632..60591195)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378316 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:60207389-60207551 Neighboring gene uncharacterized LOC124902427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2380 Neighboring gene family with sequence similarity 133, member A pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:60566642-60567841 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:60615945-60617144 Neighboring gene RN7SK pseudogene 196 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:60679234-60680433 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:60723235-60723736 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:60723737-60724236 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:60727069-60727982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2381 Neighboring gene long intergenic non-protein coding RNA 844

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. BICC1 drives pancreatic cancer progression by inducing VEGF-independent angiogenesis. Huang C, et al. Signal Transduct Target Ther, 2023 Jul 14. PMID 37443111, Free PMC Article
    2. Effect of genetic variant in BICC1 on functional and structural brain changes in depression. Bermingham R, et al. Neuropsychopharmacology, 2012 Dec. PMID 22910460, Free PMC Article
    3. Analysis of the effects of depression associated polymorphisms on the activity of the BICC1 promoter in amygdala neurones. Davidson S, et al. Pharmacogenomics J, 2016 Aug. PMID 26440730, Free PMC Article
    4. BICC1 as a novel prognostic biomarker in gastric cancer correlating with immune infiltrates. Zhao R, et al. Int Immunopharmacol, 2020 Oct. PMID 32736193
    5. Lymph node metastasis related gene BICC1 promotes tumor progression by promoting EMT and immune infiltration in pancreatic cancer. Meng F, et al. BMC Med Genomics, 2023 Oct 25. PMID 37880742, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lymph node metastasis related gene BICC1 promotes tumor progression by promoting EMT and immune infiltration in pancreatic cancer.
      Title: Lymph node metastasis related gene BICC1 promotes tumor progression by promoting EMT and immune infiltration in pancreatic cancer.
    2. BICC1 drives pancreatic cancer progression by inducing VEGF-independent angiogenesis.
      Title: BICC1 drives pancreatic cancer progression by inducing VEGF-independent angiogenesis.
    3. miR-101-3p and miR-199b-5p promote cell apoptosis in oral cancer by targeting BICC1.
      Title: miR-101-3p and miR-199b-5p promote cell apoptosis in oral cancer by targeting BICC1.
    4. BICC1 as a novel prognostic biomarker in gastric cancer correlating with immune infiltrates.
      Title: BICC1 as a novel prognostic biomarker in gastric cancer correlating with immune infiltrates.
    5. Data identified a significantly differentially methylated cg09696939 near gene BICC1 to be associated with cleft lip and cleft palate.
      Title: A comparison of DNA methylation in newborn blood samples from infants with and without orofacial clefts.
    6. The authors demonstrate that OFD1 cooperates with the mRNA binding protein Bicc1 to functionally control the protein synthesis machinery at the centrosome where also the PIC and eIF4F components were shown to localize in mammalian cells.
      Title: The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets.
    7. genetic variants in BICC1 and RASGRF1 are closely associated with high myopia, which appears to be a potential candidate for high myopia in Chinese Han population.
      Title: Assessment of BicC family RNA binding protein 1 and Ras protein specific guanine nucleotide releasing factor 1 as candidate genes for high myopia: A case-control study.
    8. Our findings suggested rs17648524 (intronic RBFOX1 gene) and rs7084402 (7.5kb 5' of the BICC1 gene) showed gender-specific associations with high myopia in the Han Chinese.
      Title: Evaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population.
    9. Suggest allelic changes in the regulation of the BICC1 gene in amygdala neurones may contribute to mood disorders.
      Title: Analysis of the effects of depression associated polymorphisms on the activity of the BICC1 promoter in amygdala neurones.
    10. Results provide some support for the involvement of BICC1 and PCLO in late-life depressive disorders and preliminary evidence that these genetic variants may also influence brain structural volumes
      Title: GWAS-identified risk variants for major depressive disorder: Preliminary support for an association with late-life depressive symptoms and brain structural alterations.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Renal dysplasia, cystic, susceptibility to
    MedGen: C3275898 OMIM: 601331 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686I21119

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    Process Evidence Code Pubs
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein bicaudal C homolog 1
    Names
    FGFR2-BICC1 fusion kinase protein
    bicaudal C homolog 1

    NCBI Reference Sequences (RefSeq)

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    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_029759.2 RefSeqGene

      Range
      4729..323292
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_853

    mRNA and Protein(s)

    1. NM_001080512.3 → NP_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, ENST00000373886.8
      Conserved Domains (3) summary
      cd09520
      Location:872 → 936
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:876 → 933
      SAM; Sterile alpha motif
      cd02394
      Location:134 → 200
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      58512220..58831435
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425780.1 → XP_047281736.1  protein bicaudal C homolog 1 isoform X7

    2. XM_047425781.1 → XP_047281737.1  protein bicaudal C homolog 1 isoform X7

    3. XM_047425778.1 → XP_047281734.1  protein bicaudal C homolog 1 isoform X3

    4. XM_017016678.2 → XP_016872167.1  protein bicaudal C homolog 1 isoform X5

      Conserved Domains (3) summary
      cd09520
      Location:824 → 888
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:828 → 885
      SAM; Sterile alpha motif
      cd02394
      Location:86 → 152
      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 ...

    5. XM_047425779.1 → XP_047281735.1  protein bicaudal C homolog 1 isoform X7

    6. XM_011540185.3 → XP_011538487.1  protein bicaudal C homolog 1 isoform X1

      Conserved Domains (3) summary
      cd09520
      Location:896 → 960
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:900 → 957
      SAM; Sterile alpha motif
      cd02394
      Location:158 → 224
      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_024448175.2 → XP_024303943.1  protein bicaudal C homolog 1 isoform X7

      Conserved Domains (3) summary
      cd09520
      Location:792 → 856
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      cd02394
      Location:54 → 120
      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:1 → 43
      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_047425777.1 → XP_047281733.1  protein bicaudal C homolog 1 isoform X2

    9. XM_024448174.1 → XP_024303942.1  protein bicaudal C homolog 1 isoform X6

      Conserved Domains (2) summary
      cd02394
      Location:163 → 229
      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 ...
      cl25496
      Location:448 → 645
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    10. XM_017016677.2 → XP_016872166.1  protein bicaudal C homolog 1 isoform X3

    11. XM_005270169.6 → XP_005270226.1  protein bicaudal C homolog 1 isoform X4

      Conserved Domains (3) summary
      cd09520
      Location:825 → 889
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:829 → 886
      SAM; Sterile alpha motif
      cd02394
      Location:87 → 153
      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 ...

    12. XM_011540191.3 → XP_011538493.1  protein bicaudal C homolog 1 isoform X8

      Conserved Domains (3) summary
      cd09520
      Location:744 → 808
      SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
      smart00454
      Location:748 → 805
      SAM; Sterile alpha motif
      cd02394
      Location:6 → 72
      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 T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      59367047..59685442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366788.1 → XP_054222763.1  protein bicaudal C homolog 1 isoform X3

    2. XM_054366790.1 → XP_054222765.1  protein bicaudal C homolog 1 isoform X5

    3. XM_054366792.1 → XP_054222767.1  protein bicaudal C homolog 1 isoform X7

    4. XM_054366785.1 → XP_054222760.1  protein bicaudal C homolog 1 isoform X1

    5. XM_054366793.1 → XP_054222768.1  protein bicaudal C homolog 1 isoform X7

    6. XM_054366786.1 → XP_054222761.1  protein bicaudal C homolog 1 isoform X2

    7. XM_054366791.1 → XP_054222766.1  protein bicaudal C homolog 1 isoform X6

    8. XM_054366787.1 → XP_054222762.1  protein bicaudal C homolog 1 isoform X3

    9. XM_054366789.1 → XP_054222764.1  protein bicaudal C homolog 1 isoform X4

    10. XM_054366794.1 → XP_054222769.1  protein bicaudal C homolog 1 isoform X8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_025044.2: Suppressed sequence

      Description
      NM_025044.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H694.2 GenPept UniProtKB/Swiss-Prot:Q9H694

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