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Protein

Protein bicaudal C homolog 1

Gene

BICC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development.1 Publication

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000122870-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein bicaudal C homolog 1
Short name:
Bic-C
Gene namesi
Name:BICC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:19351. BICC1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Renal dysplasia, cystic (CYSRD)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:601331
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066760932E → G in CYSRD; may impair splicing; hypomorphic mutation. 1 PublicationCorresponds to variant rs387907124dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi80114.
MalaCardsiBICC1.
MIMi601331. phenotype.
OpenTargetsiENSG00000122870.
Orphaneti730. Autosomal dominant polycystic kidney disease.
PharmGKBiPA134878124.

Polymorphism and mutation databases

BioMutaiBICC1.
DMDMi119367815.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002677141 – 974Protein bicaudal C homolog 1Add BLAST974

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei26PhosphoserineBy similarity1
Modified residuei31PhosphoserineBy similarity1
Modified residuei43PhosphoserineBy similarity1
Modified residuei398N6-acetyllysineCombined sources1
Modified residuei576PhosphoserineCombined sources1
Modified residuei612PhosphoserineBy similarity1
Modified residuei679PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9H694.
PaxDbiQ9H694.
PeptideAtlasiQ9H694.
PRIDEiQ9H694.

PTM databases

iPTMnetiQ9H694.
PhosphoSitePlusiQ9H694.

Expressioni

Gene expression databases

BgeeiENSG00000122870.
CleanExiHS_BICC1.
ExpressionAtlasiQ9H694. baseline and differential.
GenevisibleiQ9H694. HS.

Organism-specific databases

HPAiHPA045212.

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 similarity

Protein-protein interaction databases

BioGridi123119. 3 interactors.
IntActiQ9H694. 4 interactors.
STRINGi9606.ENSP00000362993.

Structurei

Secondary structure

1974
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi875 – 877Combined sources3
Helixi878 – 884Combined sources7
Helixi888 – 890Combined sources3
Helixi891 – 896Combined sources6
Helixi901 – 904Combined sources4
Helixi909 – 915Combined sources7
Helixi920 – 935Combined sources16

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RQMX-ray1.75A/B/C870-939[»]
4RQNX-ray2.00A/B/C870-939[»]
ProteinModelPortaliQ9H694.
SMRiQ9H694.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini132 – 199KH 1PROSITE-ProRule annotationAdd BLAST68
Domaini284 – 348KH 2PROSITE-ProRule annotationAdd BLAST65
Domaini873 – 936SAMPROSITE-ProRule annotationAdd BLAST64

Sequence similaritiesi

Belongs to the BicC family.Curated
Contains 2 KH domains.PROSITE-ProRule annotation
Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2208. Eukaryota.
KOG4374. Eukaryota.
ENOG410XQFV. LUCA.
GeneTreeiENSGT00720000108747.
HOGENOMiHOG000068054.
HOVERGENiHBG058964.
InParanoidiQ9H694.
KOiK18756.
OMAiGSNIKHI.
OrthoDBiEOG091G05A1.
PhylomeDBiQ9H694.
TreeFamiTF323767.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
3.30.1370.10. 3 hits.
InterProiIPR004087. KH_dom.
IPR004088. KH_dom_type_1.
IPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF00013. KH_1. 2 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00322. KH. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF54791. SSF54791. 3 hits.
PROSITEiPS50084. KH_TYPE_1. 2 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H694-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:974
Mass (Da):104,844
Last modified:December 12, 2006 - v2
Checksum:iD2DB194BD3C8266D
GO
Isoform 2 (identifier: Q9H694-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     845-974: TEHYLSSSNY...SDIASVSGRW → SELCVLCTLL...CGLSDFKCLV

Show »
Length:880
Mass (Da):94,288
Checksum:iB9DA3F9F9AAEA61B
GO

Sequence cautioni

The sequence BAB15369 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0296588G → D.Corresponds to variant rs7905025dbSNPEnsembl.1
Natural variantiVAR_072077270M → V Found in a family with atypical autism and severe epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant rs753582128dbSNPEnsembl.1
Natural variantiVAR_066759711N → T.1 PublicationCorresponds to variant rs138916713dbSNPEnsembl.1
Natural variantiVAR_066760932E → G in CYSRD; may impair splicing; hypomorphic mutation. 1 PublicationCorresponds to variant rs387907124dbSNPEnsembl.1
Natural variantiVAR_033542943S → P.Corresponds to variant rs4948550dbSNPEnsembl.1
Natural variantiVAR_060133945N → S.Corresponds to variant rs7895817dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_021949845 – 974TEHYL…VSGRW → SELCVLCTLLGIPRLECVYL GWSITDCGLSDFKCLV in isoform 2. 1 PublicationAdd BLAST130

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY726586 mRNA. No translation available.
AK026129 mRNA. Translation: BAB15369.1. Different initiation.
CCDSiCCDS31206.1. [Q9H694-1]
RefSeqiNP_001073981.1. NM_001080512.2. [Q9H694-1]
UniGeneiHs.100261.
Hs.158745.
Hs.633222.

Genome annotation databases

EnsembliENST00000373886; ENSP00000362993; ENSG00000122870. [Q9H694-1]
GeneIDi80114.
KEGGihsa:80114.
UCSCiuc001jki.2. human. [Q9H694-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS31206.1. [Q9H694-1]
RefSeqiNP_001073981.1. NM_001080512.2. [Q9H694-1]
UniGeneiHs.100261.
Hs.158745.
Hs.633222.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RQMX-ray1.75A/B/C870-939[»]
4RQNX-ray2.00A/B/C870-939[»]
ProteinModelPortaliQ9H694.
SMRiQ9H694.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123119. 3 interactors.
IntActiQ9H694. 4 interactors.
STRINGi9606.ENSP00000362993.

PTM databases

iPTMnetiQ9H694.
PhosphoSitePlusiQ9H694.

Polymorphism and mutation databases

BioMutaiBICC1.
DMDMi119367815.

Proteomic databases

MaxQBiQ9H694.
PaxDbiQ9H694.
PeptideAtlasiQ9H694.
PRIDEiQ9H694.

Protocols and materials databases

DNASUi80114.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373886; ENSP00000362993; ENSG00000122870. [Q9H694-1]
GeneIDi80114.
KEGGihsa:80114.
UCSCiuc001jki.2. human. [Q9H694-1]

Organism-specific databases

CTDi80114.
DisGeNETi80114.
GeneCardsiBICC1.
H-InvDBHIX0008843.
HGNCiHGNC:19351. BICC1.
HPAiHPA045212.
MalaCardsiBICC1.
MIMi601331. phenotype.
614295. gene.
neXtProtiNX_Q9H694.
OpenTargetsiENSG00000122870.
Orphaneti730. Autosomal dominant polycystic kidney disease.
PharmGKBiPA134878124.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2208. Eukaryota.
KOG4374. Eukaryota.
ENOG410XQFV. LUCA.
GeneTreeiENSGT00720000108747.
HOGENOMiHOG000068054.
HOVERGENiHBG058964.
InParanoidiQ9H694.
KOiK18756.
OMAiGSNIKHI.
OrthoDBiEOG091G05A1.
PhylomeDBiQ9H694.
TreeFamiTF323767.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000122870-MONOMER.

Miscellaneous databases

ChiTaRSiBICC1. human.
GenomeRNAii80114.
PROiQ9H694.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122870.
CleanExiHS_BICC1.
ExpressionAtlasiQ9H694. baseline and differential.
GenevisibleiQ9H694. HS.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
3.30.1370.10. 3 hits.
InterProiIPR004087. KH_dom.
IPR004088. KH_dom_type_1.
IPR001660. SAM.
IPR013761. SAM/pointed.
[Graphical view]
PfamiPF00013. KH_1. 2 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00322. KH. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
SSF54791. SSF54791. 3 hits.
PROSITEiPS50084. KH_TYPE_1. 2 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBICC1_HUMAN
AccessioniPrimary (citable) accession number: Q9H694
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: December 12, 2006
Last modified: November 2, 2016
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.