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

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; 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
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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
BICC1 drives pancreatic cancer progression by inducing VEGF-independent angiogenesis.
Title: BICC1 drives pancreatic cancer progression by inducing VEGF-independent angiogenesis.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Identification of a candidate gene for astigmatism. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-18264 (e-PCR)
- UniSTS:15653

G17501 (e-PCR)
- UniSTS:61505

RH77835 (e-PCR)
- UniSTS:66914

D10S1581 (e-PCR)
- UniSTS:22196

SHGC-37463 (e-PCR)
- UniSTS:17870

SHGC-83883 (e-PCR)
- UniSTS:101850

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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

NG_029759.2 RefSeqGene

Range

4729..323292

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_853

mRNA and Protein(s)

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

58512220..58831435

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425780.1 → XP_047281736.1 protein bicaudal C homolog 1 isoform X7
XM_047425781.1 → XP_047281737.1 protein bicaudal C homolog 1 isoform X7
XM_047425778.1 → XP_047281734.1 protein bicaudal C homolog 1 isoform X3
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 ...
XM_047425779.1 → XP_047281735.1 protein bicaudal C homolog 1 isoform X7
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 ...
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 ...
XM_047425777.1 → XP_047281733.1 protein bicaudal C homolog 1 isoform X2
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)
XM_017016677.2 → XP_016872166.1 protein bicaudal C homolog 1 isoform X3
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 ...
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

NC_060934.1 Alternate T2T-CHM13v2.0

Range

59367047..59685442

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366788.1 → XP_054222763.1 protein bicaudal C homolog 1 isoform X3
XM_054366790.1 → XP_054222765.1 protein bicaudal C homolog 1 isoform X5
XM_054366792.1 → XP_054222767.1 protein bicaudal C homolog 1 isoform X7
XM_054366785.1 → XP_054222760.1 protein bicaudal C homolog 1 isoform X1
XM_054366793.1 → XP_054222768.1 protein bicaudal C homolog 1 isoform X7
XM_054366786.1 → XP_054222761.1 protein bicaudal C homolog 1 isoform X2
XM_054366791.1 → XP_054222766.1 protein bicaudal C homolog 1 isoform X6
XM_054366787.1 → XP_054222762.1 protein bicaudal C homolog 1 isoform X3
XM_054366789.1 → XP_054222764.1 protein bicaudal C homolog 1 isoform X4
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

NM_025044.2: Suppressed sequence

Description

NM_025044.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.