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Protein

Protein bicaudal C homolog 1

Gene

BICC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, RNA-binding

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

EuPathDBiHostDB:ENSG00000122870.11
HGNCiHGNC:19351 BICC1
MIMi614295 gene
neXtProtiNX_Q9H694

Subcellular locationi

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 dbSNP:rs387907124EnsemblClinVar.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

EPDiQ9H694
MaxQBiQ9H694
PaxDbiQ9H694
PeptideAtlasiQ9H694
PRIDEiQ9H694
ProteomicsDBi80965
80966 [Q9H694-2]

PTM databases

iPTMnetiQ9H694
PhosphoSitePlusiQ9H694

Expressioni

Gene expression databases

BgeeiENSG00000122870 Expressed in 181 organ(s), highest expression level in kidney
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
MINTiQ9H694
STRINGi9606.ENSP00000362993

Structurei

Secondary structure

1974
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2208 Eukaryota
KOG4374 Eukaryota
ENOG410XQFV LUCA
GeneTreeiENSGT00900000140968
HOGENOMiHOG000068054
HOVERGENiHBG058964
InParanoidiQ9H694
KOiK18756
OMAiVRGSQNN
OrthoDBiEOG091G05A1
PhylomeDBiQ9H694
TreeFamiTF323767

Family and domain databases

CDDicd09520 SAM_BICC1, 1 hit
Gene3Di3.30.1370.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00013 KH_1, 2 hits
PF00536 SAM_1, 1 hit
SMARTiView protein in SMART
SM00322 KH, 3 hits
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF54791 SSF54791, 3 hits
PROSITEiView protein in PROSITE
PS50084 KH_TYPE_1, 2 hits
PS50105 SAM_DOMAIN, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NGY7A6NGY7_HUMAN
Protein bicaudal C homolog 1
BICC1
506Annotation score:

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 dbSNP:rs7905025Ensembl.1
Natural variantiVAR_072077270M → V Found in a family with atypical autism and severe epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs753582128Ensembl.1
Natural variantiVAR_066759711N → T1 PublicationCorresponds to variant dbSNP:rs138916713Ensembl.1
Natural variantiVAR_066760932E → G in CYSRD; may impair splicing; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387907124EnsemblClinVar.1
Natural variantiVAR_033542943S → P. Corresponds to variant dbSNP:rs4948550Ensembl.1
Natural variantiVAR_060133945N → S. Corresponds to variant dbSNP:rs7895817Ensembl.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

Similar 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.
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[»]
6GY4X-ray1.99A/B/C/D47-130[»]
ProteinModelPortaliQ9H694
SMRiQ9H694
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123119, 3 interactors
IntActiQ9H694, 4 interactors
MINTiQ9H694
STRINGi9606.ENSP00000362993

PTM databases

iPTMnetiQ9H694
PhosphoSitePlusiQ9H694

Polymorphism and mutation databases

BioMutaiBICC1
DMDMi119367815

Proteomic databases

EPDiQ9H694
MaxQBiQ9H694
PaxDbiQ9H694
PeptideAtlasiQ9H694
PRIDEiQ9H694
ProteomicsDBi80965
80966 [Q9H694-2]

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
EuPathDBiHostDB:ENSG00000122870.11
GeneCardsiBICC1
H-InvDBiHIX0008843
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
GeneTreeiENSGT00900000140968
HOGENOMiHOG000068054
HOVERGENiHBG058964
InParanoidiQ9H694
KOiK18756
OMAiVRGSQNN
OrthoDBiEOG091G05A1
PhylomeDBiQ9H694
TreeFamiTF323767

Miscellaneous databases

ChiTaRSiBICC1 human
GenomeRNAii80114
PROiPR:Q9H694
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122870 Expressed in 181 organ(s), highest expression level in kidney
CleanExiHS_BICC1
ExpressionAtlasiQ9H694 baseline and differential
GenevisibleiQ9H694 HS

Family and domain databases

CDDicd09520 SAM_BICC1, 1 hit
Gene3Di3.30.1370.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00013 KH_1, 2 hits
PF00536 SAM_1, 1 hit
SMARTiView protein in SMART
SM00322 KH, 3 hits
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF54791 SSF54791, 3 hits
PROSITEiView protein in PROSITE
PS50084 KH_TYPE_1, 2 hits
PS50105 SAM_DOMAIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBICC1_HUMAN
AccessioniPrimary (citable) accession number: Q9H694
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: December 12, 2006
Last modified: October 10, 2018
This is version 115 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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