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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

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti932 – 9321E → G in CYSRD; may impair splicing; hypomorphic mutation. 1 Publication
VAR_066760

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiBICC1.
DMDMi119367815.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 974974Protein bicaudal C homolog 1PRO_0000267714Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei26 – 261PhosphoserineBy similarity
Modified residuei31 – 311PhosphoserineBy similarity
Modified residuei43 – 431PhosphoserineBy similarity
Modified residuei398 – 3981N6-acetyllysineCombined sources
Modified residuei576 – 5761PhosphoserineCombined sources
Modified residuei612 – 6121PhosphoserineBy similarity
Modified residuei679 – 6791PhosphoserineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9H694.
MaxQBiQ9H694.
PaxDbiQ9H694.
PRIDEiQ9H694.

PTM databases

iPTMnetiQ9H694.
PhosphoSiteiQ9H694.

Expressioni

Gene expression databases

BgeeiQ9H694.
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 interactions.
IntActiQ9H694. 3 interactions.
STRINGi9606.ENSP00000362993.

Structurei

Secondary structure

1
974
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi875 – 8773Combined sources
Helixi878 – 8847Combined sources
Helixi888 – 8903Combined sources
Helixi891 – 8966Combined sources
Helixi901 – 9044Combined sources
Helixi909 – 9157Combined sources
Helixi920 – 93516Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4RQMX-ray1.75A/B/C870-939[»]
4RQNX-ray2.00A/B/C870-939[»]
ProteinModelPortaliQ9H694.
SMRiQ9H694. Positions 877-934.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini132 – 19968KH 1PROSITE-ProRule annotationAdd
BLAST
Domaini284 – 34865KH 2PROSITE-ProRule annotationAdd
BLAST
Domaini873 – 93664SAMPROSITE-ProRule annotationAdd
BLAST

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.
OrthoDBiEOG7HQN7K.
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 BAB15369.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81G → D.
Corresponds to variant rs7905025 [ dbSNP | Ensembl ].
VAR_029658
Natural varianti270 – 2701M → V Found in a family with atypical autism and severe epilepsy; unknown pathological significance. 1 Publication
VAR_072077
Natural varianti711 – 7111N → T.1 Publication
Corresponds to variant rs138916713 [ dbSNP | Ensembl ].
VAR_066759
Natural varianti932 – 9321E → G in CYSRD; may impair splicing; hypomorphic mutation. 1 Publication
VAR_066760
Natural varianti943 – 9431S → P.
Corresponds to variant rs4948550 [ dbSNP | Ensembl ].
VAR_033542
Natural varianti945 – 9451N → S.
Corresponds to variant rs7895817 [ dbSNP | Ensembl ].
VAR_060133

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei845 – 974130TEHYL…VSGRW → SELCVLCTLLGIPRLECVYL GWSITDCGLSDFKCLV in isoform 2. 1 PublicationVSP_021949Add
BLAST

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
EntryMethodResolution (Å)ChainPositionsPDBsum
4RQMX-ray1.75A/B/C870-939[»]
4RQNX-ray2.00A/B/C870-939[»]
ProteinModelPortaliQ9H694.
SMRiQ9H694. Positions 877-934.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123119. 3 interactions.
IntActiQ9H694. 3 interactions.
STRINGi9606.ENSP00000362993.

PTM databases

iPTMnetiQ9H694.
PhosphoSiteiQ9H694.

Polymorphism and mutation databases

BioMutaiBICC1.
DMDMi119367815.

Proteomic databases

EPDiQ9H694.
MaxQBiQ9H694.
PaxDbiQ9H694.
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.
GeneCardsiBICC1.
H-InvDBHIX0008843.
HGNCiHGNC:19351. BICC1.
HPAiHPA045212.
MalaCardsiBICC1.
MIMi601331. phenotype.
614295. gene.
neXtProtiNX_Q9H694.
Orphaneti730. Autosomal dominant polycystic kidney disease.
PharmGKBiPA134878124.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2208. Eukaryota.
KOG4374. Eukaryota.
ENOG410XQFV. LUCA.
GeneTreeiENSGT00720000108747.
HOGENOMiHOG000068054.
HOVERGENiHBG058964.
InParanoidiQ9H694.
KOiK18756.
OMAiGSNIKHI.
OrthoDBiEOG7HQN7K.
PhylomeDBiQ9H694.
TreeFamiTF323767.

Miscellaneous databases

ChiTaRSiBICC1. human.
GenomeRNAii80114.
NextBioi70334.
PROiQ9H694.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H694.
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...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 367-974 (ISOFORM 2).
  3. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  4. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-398, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-576, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia."
    Kraus M.R., Clauin S., Pfister Y., Di Maio M., Ulinski T., Constam D., Bellanne-Chantelot C., Grapin-Botton A.
    Hum. Mutat. 33:86-90(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS NEGATIVE REGULATOR OF WNT SIGNALING, VARIANT CYSRD GLY-932, VARIANT THR-711, CHARACTERIZATION OF VARIANT CYSRD GLY-932.
  7. "Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation."
    Lee H., Lin M.C., Kornblum H.I., Papazian D.M., Nelson S.F.
    Hum. Mol. Genet. 23:3481-3489(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT VAL-270.

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: April 13, 2016
This is version 98 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.