BICC1 (BicC family RNA binding protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 80114
Gene name BicC family RNA binding protein 1
Gene symbol BICC1
Synonyms (NCBI Gene)
BICC
Chromosome 10
Chromosome location 10q21.1
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
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs387907123 C>A,T Risk-factor Coding sequence variant, genic upstream transcript variant, stop gained, missense variant
rs387907124 A>G Risk-factor Coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
63
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (63)
miRTarBase ID miRNA Experiments Reference
MIRT660299 hsa-miR-548b-3p HITS-CLIP 23824327
MIRT660298 hsa-miR-4511 HITS-CLIP 23824327
MIRT660297 hsa-miR-7110-3p HITS-CLIP 23824327
MIRT660296 hsa-miR-6817-3p HITS-CLIP 23824327
MIRT660295 hsa-miR-6515-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614295 19351 ENSG00000122870
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H694
Protein name Protein bicaudal C homolog 1 (Bic-C)
Protein function Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.
PDB 4RQM , 4RQN , 6GY4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00013 KH_1 134 → 201 KH domain Domain
PF00013 KH_1 286 → 350 KH domain Domain
PF00536 SAM_1 874 → 934 SAM domain (Sterile alpha motif) Domain
Sequence 
MAAQGEPGYLAAQSDPGSNSERSTDSPVPGSEDDLVAGATLHSPEWSEERFRVDRKKLEA
MLQAAAEGKGRSGEDFFQKIMEETNTQIAWPSKLKIGAKSKKDPHIKVSGKKEDVKEAKE
MIMSVLDTKSNRVTLKMDVSHTEHSHVIGKGGNNIKKVMEETGCHIHFPDSNRNNQAEKS
NQVSIAGQPAGVESARVRIRELLPLVLMFELPIAGILQPVPDPNSPSIQHISQTYNISVS
FKQRSRMYGATVIVRGSQNNTSAVKEGTAMLLEHLAGSLASAIPVSTQLDIAAQHHLFMM
GRNGSNIKHIMQRTGAQIHFPDPSNPQKKSTVYLQGTIESVCLARQYLMGCLPLVLMFDM
KEEIEVDPQFIAQLMEQLDVFISIKPKPKQPSKSVIVKSVERNALNMYEARKCLLGLESS
GVTIATSPSPASCPAGLACPSLDILASAGLGLTGLGLLGPTTLSLNTSTTPNSLLNALNS
SVSPLQSPSSGTPSPTLWAPPLANTSSATGFSAIPHLMIPSTAQATLTNILLSGVPTYGH
TAPSPPPGLTPVDVHINSMQTEGKKISAALNGHAQSPDIKYGAISTSSLGEKVLSANHGD
PSIQTSGSEQTSPKSSPTEGCNDAFVEVGMPRSPSHSGNAGDLKQMMCPSKVSCAKRQTV
ELLQGTKNSHLHSTDRLLSDPELSATESPLADKKAPGSERAAERAAAAQQNSERAHLAPR
SSYVNMQAFDYEQKKLLATKAMLKKPVVTEVRTPTNTWSGLGFSKSMPAETIKELRRANH
VSYKPTMTTTYEGSSMSLSRSNSREHLGGGSESDNWRDRNGIGPGSHSEFAASIGSPKRK
QNKSTEHYLSSSNYMDCISSLTGSNGCNLNSSFKGSDLPELFSKLGLGKYTDVFQQQEID
LQTFLTLTDQDLKELGITTFGARRKMLLAISELNKNRRKLFESPNARTSFLEGGASGRLP
RQYHSDIASVSGRW
Sequence length 974
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
68
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Renal agenesis Likely pathogenic rs778832785 RCV001807685
Renal dysplasia, cystic, susceptibility to Pathogenic; Likely pathogenic rs2132481650, rs2492140343, rs2492076262, rs2132831777 RCV001353244
RCV003991394
RCV004546887
RCV004555301
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BICC1-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs3740453, rs111922761, rs138916713, rs144147641, rs149662454, rs142962946, rs138398480, rs781331473, rs372910652, rs202194967, rs62625030, rs7895817, rs77500675 RCV004749712
RCV003921210
RCV004749714
RCV003931319
RCV003960903
RCV004750220
RCV004750222
RCV003399591
RCV003966562
RCV003966574
RCV004749560
RCV003972867
RCV004749512
Cervical cancer Benign; Likely benign rs111922761 RCV005916240
Clear cell carcinoma of kidney Benign; Likely benign rs111922761 RCV005916241
Congenital anomaly of kidney and urinary tract Uncertain significance rs1187480950 RCV001328272
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 33934493
Cholangiocarcinoma Associate 24563076, 32252259, 36635225, 37292215
Glaucoma Open Angle Associate 35741817
Lymphatic Metastasis Associate 37880742
Myopia Associate 29044055
Neoplasms Associate 37880742
Nephronophthisis familial juvenile Associate 32994509
Pancreatic Neoplasms Associate 32702921, 37880742
Wilms Tumor Associate 35578692