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

Gene ID: 80114, updated on 24-Nov-2020

Summary

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
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

Genomic context

See BICC1 in Genome Data Viewer
Location:
10q21.1
Exon count:
29
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (58512872..58831435)
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 RN7SK pseudogene 196 Neighboring gene long intergenic non-protein coding RNA 844

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
GeneReviews: Not available
Identification of a candidate gene for astigmatism.
GeneReviews: Not available
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Renal dysplasia, cystic, susceptibility to
MedGen: C3275898 OMIM: 601331 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686I21119

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA 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
 
kidney 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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.

Genomic

  1. NG_029759.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001080512.3NP_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: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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    58512872..58831435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448175.1XP_024303943.1  protein bicaudal C homolog 1 isoform X6

    Conserved Domains (3) summary
    cd09520
    Location:792856
    SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
    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 ...
  2. XM_011540185.2XP_011538487.1  protein bicaudal C homolog 1 isoform X1

    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 ...
  3. XM_017016678.1XP_016872167.1  protein bicaudal C homolog 1 isoform X4

    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 ...
  4. XM_024448174.1XP_024303942.1  protein bicaudal C homolog 1 isoform X5

    Conserved Domains (2) summary
    cd02394
    Location:163229
    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:448645
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
  5. XM_017016677.1XP_016872166.1  protein bicaudal C homolog 1 isoform X2

  6. XM_005270169.5XP_005270226.1  protein bicaudal C homolog 1 isoform X3

    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 ...
  7. XM_011540190.3XP_011538492.1  protein bicaudal C homolog 1 isoform X6

    Conserved Domains (3) summary
    cd09520
    Location:792856
    SAM_BICC1; SAM domain of BICC1 (bicaudal) subfamily
    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 X7

    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 ...
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