UniProtKB - Q9H694 (BICC1_HUMAN)
Protein bicaudal C homolog 1
BICC1
Functioni
Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.
1 PublicationGO - Molecular functioni
- RNA binding Source: UniProtKB
GO - Biological processi
- determination of left/right symmetry Source: Ensembl
- heart development Source: Ensembl
- kidney development Source: Ensembl
- negative regulation of canonical Wnt signaling pathway Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, RNA-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9H694 |
SignaLinki | Q9H694 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein bicaudal C homolog 1Short name: Bic-C |
Gene namesi | Name:BICC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19351, BICC1 |
MIMi | 614295, gene |
neXtProti | NX_Q9H694 |
VEuPathDBi | HostDB:ENSG00000122870 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Renal dysplasia, cystic (CYSRD)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066760 | 932 | E → G in CYSRD; may impair splicing; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387907124EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 80114 |
MalaCardsi | BICC1 |
MIMi | 601331, phenotype |
OpenTargetsi | ENSG00000122870 |
Orphaneti | 730, Autosomal dominant polycystic kidney disease |
PharmGKBi | PA134878124 |
Miscellaneous databases
Pharosi | Q9H694, Tbio |
Genetic variation databases
BioMutai | BICC1 |
DMDMi | 119367815 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000267714 | 1 – 974 | Protein bicaudal C homolog 1Add BLAST | 974 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 26 | PhosphoserineBy similarity | 1 | |
Modified residuei | 31 | PhosphoserineBy similarity | 1 | |
Modified residuei | 43 | PhosphoserineBy similarity | 1 | |
Modified residuei | 398 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 576 | PhosphoserineCombined sources | 1 | |
Modified residuei | 612 | PhosphoserineBy similarity | 1 | |
Modified residuei | 679 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9H694 |
jPOSTi | Q9H694 |
MassIVEi | Q9H694 |
MaxQBi | Q9H694 |
PaxDbi | Q9H694 |
PeptideAtlasi | Q9H694 |
PRIDEi | Q9H694 |
ProteomicsDBi | 80965 [Q9H694-1] 80966 [Q9H694-2] |
PTM databases
iPTMneti | Q9H694 |
PhosphoSitePlusi | Q9H694 |
Expressioni
Gene expression databases
Bgeei | ENSG00000122870, Expressed in kidney and 195 other tissues |
ExpressionAtlasi | Q9H694, baseline and differential |
Genevisiblei | Q9H694, HS |
Organism-specific databases
HPAi | ENSG00000122870, Tissue enhanced (kidney) |
Interactioni
Subunit structurei
Interacts (via KH domains) with ANKS6 (via SAM domain) in an RNA-dependent manner (By similarity).
Interacts with ANKS3 (By similarity).
By similarityProtein-protein interaction databases
BioGRIDi | 123119, 20 interactors |
IntActi | Q9H694, 4 interactors |
MINTi | Q9H694 |
STRINGi | 9606.ENSP00000362993 |
Miscellaneous databases
RNActi | Q9H694, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9H694 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 132 – 199 | KH 1PROSITE-ProRule annotationAdd BLAST | 68 | |
Domaini | 284 – 348 | KH 2PROSITE-ProRule annotationAdd BLAST | 65 | |
Domaini | 873 – 936 | SAMPROSITE-ProRule annotationAdd BLAST | 64 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 50 | DisorderedSequence analysisAdd BLAST | 50 | |
Regioni | 593 – 644 | DisorderedSequence analysisAdd BLAST | 52 | |
Regioni | 665 – 719 | DisorderedSequence analysisAdd BLAST | 55 | |
Regioni | 783 – 846 | DisorderedSequence analysisAdd BLAST | 64 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 593 – 619 | Polar residuesSequence analysisAdd BLAST | 27 | |
Compositional biasi | 783 – 809 | Polar residuesSequence analysisAdd BLAST | 27 |
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG2208, Eukaryota KOG4374, Eukaryota |
GeneTreei | ENSGT00940000156276 |
HOGENOMi | CLU_008040_0_0_1 |
InParanoidi | Q9H694 |
OMAi | LMYPTAA |
OrthoDBi | 201055at2759 |
PhylomeDBi | Q9H694 |
TreeFami | TF323767 |
Family and domain databases
CDDi | cd09520, SAM_BICC1, 1 hit |
Gene3Di | 1.10.150.50, 1 hit 3.30.1370.10, 1 hit |
InterProi | View protein in InterPro IPR037974, BICC1_SAM_dom IPR004087, KH_dom IPR004088, KH_dom_type_1 IPR036612, KH_dom_type_1_sf IPR001660, SAM IPR013761, SAM/pointed_sf |
Pfami | View protein in Pfam PF00013, KH_1, 2 hits PF00536, SAM_1, 1 hit |
SMARTi | View protein in SMART SM00322, KH, 3 hits SM00454, SAM, 1 hit |
SUPFAMi | SSF47769, SSF47769, 1 hit SSF54791, SSF54791, 3 hits |
PROSITEi | View protein in PROSITE PS50084, KH_TYPE_1, 2 hits PS50105, SAM_DOMAIN, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAQGEPGYL AAQSDPGSNS ERSTDSPVPG SEDDLVAGAT LHSPEWSEER
60 70 80 90 100
FRVDRKKLEA MLQAAAEGKG RSGEDFFQKI MEETNTQIAW PSKLKIGAKS
110 120 130 140 150
KKDPHIKVSG KKEDVKEAKE MIMSVLDTKS NRVTLKMDVS HTEHSHVIGK
160 170 180 190 200
GGNNIKKVME ETGCHIHFPD SNRNNQAEKS NQVSIAGQPA GVESARVRIR
210 220 230 240 250
ELLPLVLMFE LPIAGILQPV PDPNSPSIQH ISQTYNISVS FKQRSRMYGA
260 270 280 290 300
TVIVRGSQNN TSAVKEGTAM LLEHLAGSLA SAIPVSTQLD IAAQHHLFMM
310 320 330 340 350
GRNGSNIKHI MQRTGAQIHF PDPSNPQKKS TVYLQGTIES VCLARQYLMG
360 370 380 390 400
CLPLVLMFDM KEEIEVDPQF IAQLMEQLDV FISIKPKPKQ PSKSVIVKSV
410 420 430 440 450
ERNALNMYEA RKCLLGLESS GVTIATSPSP ASCPAGLACP SLDILASAGL
460 470 480 490 500
GLTGLGLLGP TTLSLNTSTT PNSLLNALNS SVSPLQSPSS GTPSPTLWAP
510 520 530 540 550
PLANTSSATG FSAIPHLMIP STAQATLTNI LLSGVPTYGH TAPSPPPGLT
560 570 580 590 600
PVDVHINSMQ TEGKKISAAL NGHAQSPDIK YGAISTSSLG EKVLSANHGD
610 620 630 640 650
PSIQTSGSEQ TSPKSSPTEG CNDAFVEVGM PRSPSHSGNA GDLKQMMCPS
660 670 680 690 700
KVSCAKRQTV ELLQGTKNSH LHSTDRLLSD PELSATESPL ADKKAPGSER
710 720 730 740 750
AAERAAAAQQ NSERAHLAPR SSYVNMQAFD YEQKKLLATK AMLKKPVVTE
760 770 780 790 800
VRTPTNTWSG LGFSKSMPAE TIKELRRANH VSYKPTMTTT YEGSSMSLSR
810 820 830 840 850
SNSREHLGGG SESDNWRDRN GIGPGSHSEF AASIGSPKRK QNKSTEHYLS
860 870 880 890 900
SSNYMDCISS LTGSNGCNLN SSFKGSDLPE LFSKLGLGKY TDVFQQQEID
910 920 930 940 950
LQTFLTLTDQ DLKELGITTF GARRKMLLAI SELNKNRRKL FESPNARTSF
960 970
LEGGASGRLP RQYHSDIASV SGRW
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA6NGY7 | A6NGY7_HUMAN | Protein bicaudal C homolog 1 | BICC1 | 506 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029658 | 8 | G → D. Corresponds to variant dbSNP:rs7905025Ensembl. | 1 | |
Natural variantiVAR_072077 | 270 | M → V Found in a family with atypical autism and severe epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753582128Ensembl. | 1 | |
Natural variantiVAR_066759 | 711 | N → T1 PublicationCorresponds to variant dbSNP:rs138916713Ensembl. | 1 | |
Natural variantiVAR_066760 | 932 | E → G in CYSRD; may impair splicing; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387907124EnsemblClinVar. | 1 | |
Natural variantiVAR_033542 | 943 | S → P. Corresponds to variant dbSNP:rs4948550Ensembl. | 1 | |
Natural variantiVAR_060133 | 945 | N → S. Corresponds to variant dbSNP:rs7895817EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_021949 | 845 – 974 | TEHYL…VSGRW → SELCVLCTLLGIPRLECVYL GWSITDCGLSDFKCLV in isoform 2. 1 PublicationAdd BLAST | 130 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY726586 mRNA No translation available. AK026129 mRNA Translation: BAB15369.1 Different initiation. |
CCDSi | CCDS31206.1 [Q9H694-1] |
RefSeqi | NP_001073981.1, NM_001080512.2 [Q9H694-1] |
Genome annotation databases
Ensembli | ENST00000373886; ENSP00000362993; ENSG00000122870 |
GeneIDi | 80114 |
KEGGi | hsa:80114 |
MANE-Selecti | ENST00000373886.8; ENSP00000362993.3; NM_001080512.3; NP_001073981.1 |
UCSCi | uc001jki.2, human [Q9H694-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY726586 mRNA No translation available. AK026129 mRNA Translation: BAB15369.1 Different initiation. |
CCDSi | CCDS31206.1 [Q9H694-1] |
RefSeqi | NP_001073981.1, NM_001080512.2 [Q9H694-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4RQM | X-ray | 1.75 | A/B/C | 870-939 | [»] | |
4RQN | X-ray | 2.00 | A/B/C | 870-939 | [»] | |
6GY4 | X-ray | 1.99 | A/B/C/D | 47-130 | [»] | |
SMRi | Q9H694 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123119, 20 interactors |
IntActi | Q9H694, 4 interactors |
MINTi | Q9H694 |
STRINGi | 9606.ENSP00000362993 |
PTM databases
iPTMneti | Q9H694 |
PhosphoSitePlusi | Q9H694 |
Genetic variation databases
BioMutai | BICC1 |
DMDMi | 119367815 |
Proteomic databases
EPDi | Q9H694 |
jPOSTi | Q9H694 |
MassIVEi | Q9H694 |
MaxQBi | Q9H694 |
PaxDbi | Q9H694 |
PeptideAtlasi | Q9H694 |
PRIDEi | Q9H694 |
ProteomicsDBi | 80965 [Q9H694-1] 80966 [Q9H694-2] |
Protocols and materials databases
Antibodypediai | 51885, 165 antibodies from 26 providers |
DNASUi | 80114 |
Genome annotation databases
Ensembli | ENST00000373886; ENSP00000362993; ENSG00000122870 |
GeneIDi | 80114 |
KEGGi | hsa:80114 |
MANE-Selecti | ENST00000373886.8; ENSP00000362993.3; NM_001080512.3; NP_001073981.1 |
UCSCi | uc001jki.2, human [Q9H694-1] |
Organism-specific databases
CTDi | 80114 |
DisGeNETi | 80114 |
GeneCardsi | BICC1 |
HGNCi | HGNC:19351, BICC1 |
HPAi | ENSG00000122870, Tissue enhanced (kidney) |
MalaCardsi | BICC1 |
MIMi | 601331, phenotype 614295, gene |
neXtProti | NX_Q9H694 |
OpenTargetsi | ENSG00000122870 |
Orphaneti | 730, Autosomal dominant polycystic kidney disease |
PharmGKBi | PA134878124 |
VEuPathDBi | HostDB:ENSG00000122870 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2208, Eukaryota KOG4374, Eukaryota |
GeneTreei | ENSGT00940000156276 |
HOGENOMi | CLU_008040_0_0_1 |
InParanoidi | Q9H694 |
OMAi | LMYPTAA |
OrthoDBi | 201055at2759 |
PhylomeDBi | Q9H694 |
TreeFami | TF323767 |
Enzyme and pathway databases
PathwayCommonsi | Q9H694 |
SignaLinki | Q9H694 |
Miscellaneous databases
BioGRID-ORCSi | 80114, 4 hits in 1042 CRISPR screens |
ChiTaRSi | BICC1, human |
GenomeRNAii | 80114 |
Pharosi | Q9H694, Tbio |
PROi | PR:Q9H694 |
RNActi | Q9H694, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000122870, Expressed in kidney and 195 other tissues |
ExpressionAtlasi | Q9H694, baseline and differential |
Genevisiblei | Q9H694, HS |
Family and domain databases
CDDi | cd09520, SAM_BICC1, 1 hit |
Gene3Di | 1.10.150.50, 1 hit 3.30.1370.10, 1 hit |
InterProi | View protein in InterPro IPR037974, BICC1_SAM_dom IPR004087, KH_dom IPR004088, KH_dom_type_1 IPR036612, KH_dom_type_1_sf IPR001660, SAM IPR013761, SAM/pointed_sf |
Pfami | View protein in Pfam PF00013, KH_1, 2 hits PF00536, SAM_1, 1 hit |
SMARTi | View protein in SMART SM00322, KH, 3 hits SM00454, SAM, 1 hit |
SUPFAMi | SSF47769, SSF47769, 1 hit SSF54791, SSF54791, 3 hits |
PROSITEi | View protein in PROSITE PS50084, KH_TYPE_1, 2 hits PS50105, SAM_DOMAIN, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | BICC1_HUMAN | |
Accessioni | Q9H694Primary (citable) accession number: Q9H694 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 12, 2006 |
Last sequence update: | December 12, 2006 | |
Last modified: | February 23, 2022 | |
This is version 135 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families