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

Gene ID: 80114, updated on 5-Mar-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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Location:
10q21.1
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (58512220..58831435)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (59367047..59685442)
105.20220307 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
  • 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 as a novel prognostic biomarker in gastric cancer correlating with immune infiltrates. Zhao R, et al. Int Immunopharmacol, 2020 Oct. PMID 32736193
  2. 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
  3. 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
  4. A comparison of DNA methylation in newborn blood samples from infants with and without orofacial clefts. Xu Z, et al. Clin Epigenetics, 2019 Mar 4. PMID 30832715, Free PMC Article
  5. 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. Hepei L, et al. Indian J Ophthalmol, 2017 Oct. PMID 29044055, Free PMC Article

See all (36) 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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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_2023_10

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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