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Aliases for BICC1 Gene

Aliases for BICC1 Gene

  • BicC Family RNA Binding Protein 1 2 3 5
  • Bicaudal C Homolog 1 (Drosophila) 2
  • FGFR2-BICC1 Fusion Kinase Protein 3
  • Protein Bicaudal C Homolog 1 3
  • Bicaudal C Homolog 1 3
  • CYSRD 3
  • Bic-C 4
  • BICC 3

External Ids for BICC1 Gene

Previous GeneCards Identifiers for BICC1 Gene

  • GC10P059348
  • GC10P059578
  • GC10P060445
  • GC10P059897
  • GC10P060223
  • GC10P054263
  • GC10P060272

Summaries for BICC1 Gene

Entrez Gene Summary for BICC1 Gene

  • 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]

GeneCards Summary for BICC1 Gene

BICC1 (BicC Family RNA Binding Protein 1) is a Protein Coding gene. Diseases associated with BICC1 include Renal Dysplasia, Cystic and Renal Dysplasia Diffuse Cystic. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ANKS6.

UniProtKB/Swiss-Prot for BICC1 Gene

  • Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.

Additional gene information for BICC1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BICC1 Gene

Genomics for BICC1 Gene

GeneHancer (GH) Regulatory Elements for BICC1 Gene

Promoters and enhancers for BICC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I058511 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 555.5 +1.3 1314 5.4 FOXA2 ZNF133 SIN3A ZNF2 GLIS2 ZNF302 SP3 YY2 REST ZNF610 BICC1 GC10P058514 FAM133CP CISD1 IPMK GC10P058574
GH10I058621 Enhancer 0.5 ENCODE dbSUPER 35.1 +109.7 109657 1.2 MNT BICC1 GC10M058597 GC10P058713
GH10I058468 Enhancer 0.9 ENCODE 11.9 -44.2 -44180 0.3 FOXA2 MLX ARID4B SIN3A DMAP1 ETS1 YY1 TCF12 ATF7 RXRA BICC1 GC10P058495 LOC105378316
GH10I058650 Enhancer 0.9 Ensembl ENCODE dbSUPER 10.7 +138.3 138253 1 JUND PRDM6 POLR2A RCOR1 FEZF1 CHD2 BICC1 GC10M058597 GC10P058713
GH10I058457 Enhancer 0.8 ENCODE 11.6 -54.7 -54749 1.8 ELF3 SOX13 FOXA2 CEBPG ZNF644 YY1 RERE FOS THAP11 GATAD2A BICC1 LOC105378316 GC10P058495
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BICC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BICC1 gene promoter:

Genomic Locations for BICC1 Gene

Genomic Locations for BICC1 Gene
chr10:58,512,916-58,831,437
(GRCh38/hg38)
Size:
318,522 bases
Orientation:
Plus strand
chr10:60,272,900-60,591,195
(GRCh37/hg19)

Genomic View for BICC1 Gene

Genes around BICC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BICC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BICC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BICC1 Gene

Proteins for BICC1 Gene

  • Protein details for BICC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H694-BICC1_HUMAN
    Recommended name:
    Protein bicaudal C homolog 1
    Protein Accession:
    Q9H694

    Protein attributes for BICC1 Gene

    Size:
    974 amino acids
    Molecular mass:
    104844 Da
    Quaternary structure:
    • Interacts (via KH domains) with ANKS6 (via SAM domain) in an RNA-dependent manner (By similarity). Interacts with ANKS3 (By similarity).
    SequenceCaution:
    • Sequence=BAB15369.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BICC1 Gene

    Alternative splice isoforms for BICC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BICC1 Gene

Post-translational modifications for BICC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BICC1 Gene

Domains & Families for BICC1 Gene

Gene Families for BICC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BICC1 Gene

Suggested Antigen Peptide Sequences for BICC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H694

UniProtKB/Swiss-Prot:

BICC1_HUMAN :
  • Belongs to the BicC family.
Family:
  • Belongs to the BicC family.
genes like me logo Genes that share domains with BICC1: view

Function for BICC1 Gene

Molecular function for BICC1 Gene

UniProtKB/Swiss-Prot Function:
Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.

Phenotypes From GWAS Catalog for BICC1 Gene

Gene Ontology (GO) - Molecular Function for BICC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22658674
genes like me logo Genes that share ontologies with BICC1: view
genes like me logo Genes that share phenotypes with BICC1: view

Animal Models for BICC1 Gene

MGI Knock Outs for BICC1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BICC1 Gene

Localization for BICC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BICC1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BICC1 gene
Compartment Confidence
nucleus 3
plasma membrane 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BICC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with BICC1: view

Pathways & Interactions for BICC1 Gene

SuperPathways for BICC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BICC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development IEA --
GO:0090090 negative regulation of canonical Wnt signaling pathway IDA 21922595
genes like me logo Genes that share ontologies with BICC1: view

No data available for Pathways by source and SIGNOR curated interactions for BICC1 Gene

Drugs & Compounds for BICC1 Gene

No Compound Related Data Available

Transcripts for BICC1 Gene

mRNA/cDNA for BICC1 Gene

(9) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BICC1 Gene

Bicaudal C homolog 1 (Drosophila):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BICC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2:

Relevant External Links for BICC1 Gene

GeneLoc Exon Structure for
BICC1
ECgene alternative splicing isoforms for
BICC1

Expression for BICC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BICC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BICC1 Gene

This gene is overexpressed in Plasma (23.1), Pancreas (22.2), and Monocytes (19.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BICC1 Gene



Protein tissue co-expression partners for BICC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BICC1 Gene:

BICC1

SOURCE GeneReport for Unigene cluster for BICC1 Gene:

Hs.158745

Evidence on tissue expression from TISSUES for BICC1 Gene

  • Kidney(2.6)
genes like me logo Genes that share expression patterns with BICC1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BICC1 Gene

Orthologs for BICC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BICC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BICC1 33 34
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia BICC1 33 34
  • 94.32 (n)
cow
(Bos Taurus)
Mammalia BICC1 33 34
  • 92.53 (n)
mouse
(Mus musculus)
Mammalia Bicc1 33 16 34
  • 86.17 (n)
rat
(Rattus norvegicus)
Mammalia Bicc1 33
  • 85.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BICC1 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BICC1 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves BICC1 33 34
  • 82.2 (n)
lizard
(Anolis carolinensis)
Reptilia BICC1 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bicc1 33
  • 75.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia Bic-C 33
zebrafish
(Danio rerio)
Actinopterygii bicc1b 34
  • 76 (a)
OneToOne
LOC568201 33
  • 64.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta BicC 34
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea bcc-1 33 34
  • 45.61 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCP160 34
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for BICC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BICC1 Gene

ENSEMBL:
Gene Tree for BICC1 (if available)
TreeFam:
Gene Tree for BICC1 (if available)

Paralogs for BICC1 Gene

Paralogs for BICC1 Gene

genes like me logo Genes that share paralogs with BICC1: view

Variants for BICC1 Gene

Sequence variations from dbSNP and Humsavar for BICC1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs387907123 risk-factor, Renal dysplasia diffuse cystic 58,702,095(+) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, stop_gained
rs387907124 risk-factor, Renal dysplasia diffuse cystic, Renal dysplasia, cystic (CYSRD) [MIM:601331] 58,828,761(+) A/G coding_sequence_variant, missense_variant
rs200593598 uncertain-significance, not specified 58,789,880(+) G/A coding_sequence_variant, missense_variant
rs372894085 uncertain-significance, not specified 58,813,864(+) G/A coding_sequence_variant, missense_variant
rs749021662 uncertain-significance, not specified 58,828,847(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for BICC1 Gene

Variant ID Type Subtype PubMed ID
esv23021 CNV loss 19812545
esv2656976 CNV deletion 23128226
esv2659339 CNV deletion 23128226
esv2664920 CNV deletion 23128226
esv2674679 CNV deletion 23128226
esv2676452 CNV deletion 23128226
esv28592 CNV loss 19812545
esv32723 CNV loss 17666407
esv32825 CNV loss 17666407
esv3399683 CNV insertion 20981092
esv3546369 CNV deletion 23714750
esv3546371 CNV deletion 23714750
esv3623436 CNV loss 21293372
esv3623441 CNV loss 21293372
esv3623443 CNV loss 21293372
esv3623445 CNV loss 21293372
esv9199 CNV gain 19470904
nsv1068701 CNV deletion 25765185
nsv1119815 CNV deletion 24896259
nsv1122530 CNV deletion 24896259
nsv508586 CNV deletion 20534489
nsv6798 CNV insertion 18451855
nsv825403 CNV loss 20364138
nsv831886 CNV gain 17160897
nsv948028 CNV duplication 23825009

Variation tolerance for BICC1 Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BICC1 Gene

Human Gene Mutation Database (HGMD)
BICC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BICC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BICC1 Gene

Disorders for BICC1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for BICC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
renal dysplasia, cystic
  • renal dysplasia, cystic, susceptibility to
renal dysplasia diffuse cystic
  • diffuse cystic renal dysplasia
autosomal dominant polycystic kidney disease
  • adpkd
renal dysplasia
  • renal cell dysplasia
refractive error
  • refractive errors
- elite association - COSMIC cancer census association via MalaCards
Search BICC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BICC1_HUMAN
  • Renal dysplasia, cystic (CYSRD) [MIM:601331]: An anomaly of the kidney characterized by numerous renal cysts and apparent disorder of differentiation of the renal parenchyma. Kidney of affected individuals lack the normal renal bean shape, and the collection drainage system. The cystic, dysplastic kidney contains undifferentiated mesenchyme, cartilaginous tissue, and immature collecting ducts. {ECO:0000269 PubMed:21922595}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for BICC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BICC1: view

No data available for Genatlas for BICC1 Gene

Publications for BICC1 Gene

  1. Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. (PMID: 21922595) Kraus MR … Grapin-Botton A (Human mutation 2012) 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Genome-wide association study of major recurrent depression in the U.K. population. (PMID: 20516156) Lewis CM … McGuffin P (The American journal of psychiatry 2010) 3 44 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for BICC1 Gene

Sources for BICC1 Gene

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