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UniProtKB - Q9Y597 (KCTD3_HUMAN)

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Protein

BTB/POZ domain-containing protein KCTD3

Gene

KCTD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Miscellaneous

Reacts with sera from 5-25 per cent of cancer patients but not with sera from normal donors. Seventy per cent of renal cancer patients have antibodies against one or a panel of these antigens.

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein KCTD3
Alternative name(s):
Renal carcinoma antigen NY-REN-45
Gene namesi
Name:KCTD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:21305. KCTD3.

Pathology & Biotechi

Organism-specific databases

DisGeNETi51133.
OpenTargetsiENSG00000136636.
PharmGKBiPA134945859.

Polymorphism and mutation databases

BioMutaiKCTD3.
DMDMi112823993.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002478391 – 815BTB/POZ domain-containing protein KCTD3Add BLAST815

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei604PhosphoserineCombined sources1
Modified residuei664PhosphoserineCombined sources1
Modified residuei711PhosphoserineCombined sources1
Modified residuei793PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y597.
PaxDbiQ9Y597.
PeptideAtlasiQ9Y597.
PRIDEiQ9Y597.

PTM databases

iPTMnetiQ9Y597.
PhosphoSitePlusiQ9Y597.

Expressioni

Tissue specificityi

Broadly expressed in normal tissues.1 Publication

Gene expression databases

BgeeiENSG00000136636.
CleanExiHS_KCTD3.
ExpressionAtlasiQ9Y597. baseline and differential.
GenevisibleiQ9Y597. HS.

Organism-specific databases

HPAiHPA015142.

Interactioni

Protein-protein interaction databases

BioGridi119320. 37 interactors.
IntActiQ9Y597. 11 interactors.
STRINGi9606.ENSP00000259154.

Structurei

3D structure databases

ProteinModelPortaliQ9Y597.
SMRiQ9Y597.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini18 – 87BTBPROSITE-ProRule annotationAdd BLAST70
Repeati174 – 218WD 1Add BLAST45
Repeati224 – 263WD 2Add BLAST40
Repeati270 – 305WD 3Add BLAST36
Repeati310 – 342WD 4Add BLAST33
Repeati354 – 404WD 5Add BLAST51
Repeati412 – 449WD 6Add BLAST38
Repeati457 – 504WD 7Add BLAST48
Repeati510 – 569WD 8Add BLAST60

Sequence similaritiesi

Belongs to the KCTD3 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2714. Eukaryota.
ENOG410XSWI. LUCA.
GeneTreeiENSGT00530000062980.
HOVERGENiHBG061001.
InParanoidiQ9Y597.
OMAiIILWSIQ.
OrthoDBiEOG091G0391.
PhylomeDBiQ9Y597.
TreeFamiTF313754.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiView protein in InterPro
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
PfamiView protein in Pfam
PF02214. BTB_2. 1 hit.
SMARTiView protein in SMART
SM00225. BTB. 1 hit.
SM00320. WD40. 3 hits.
SUPFAMiSSF50978. SSF50978. 2 hits.
SSF54695. SSF54695. 1 hit.
PROSITEiView protein in PROSITE
PS50097. BTB. 1 hit.
PS00678. WD_REPEATS_1. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y597-1) [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
MAGGHCGSFP AAAAGSGEIV QLNVGGTRFS TSRQTLMWIP DSFFSSLLSG 
        60         70         80         90        100
RISTLRDETG AIFIDRDPAA FAPILNFLRT KELDLRGVSI NVLRHEAEFY 
       110        120        130        140        150
GITPLVRRLL LCEELERSSC GSVLFHGYLP PPGIPSRKIN NTVRSADSRN 
       160        170        180        190        200
GLNSTEGEAR GNGTQPVLSG TGEETVRLGF PVDPRKVLIV AGHHNWIVAA 
       210        220        230        240        250
YAHFAVCYRI KESSGWQQVF TSPYLDWTIE RVALNAKVVG GPHGDKDKMV 
       260        270        280        290        300
AVASESSIIL WSVQDGGSGS EIGVFSLGVP VDALFFIGNQ LVATSHTGKV 
       310        320        330        340        350
GVWNAVTQHW QVQDVVPITS YDTAGSFLLL GCNNGSIYYI DMQKFPLRMK 
       360        370        380        390        400
DNDLLVTELY HDPSNDAITA LSVYLTPKTS VSGNWIEIAY GTSSGAVRVI 
       410        420        430        440        450
VQHPETVGSG PQLFQTFTVH RSPVTKIMLS EKHLVSVCAD NNHVRTWTVT 
       460        470        480        490        500
RFRGMISTQP GSTPLASFKI LSLEETESHG SYSSGNDIGP FGERDDQQVF 
       510        520        530        540        550
IQKVVPITNK LFVRLSSTGK RICEIQAVDC TTISSFTVRE CEGSSRMGSR 
       560        570        580        590        600
PRRYLFTGHT NGSIQMWDLT TAMDMVNKSE DKDVGGPTEE ELLKLLDQCD 
       610        620        630        640        650
LSTSRCATPN ISPATSVVQH SHLRESNSSL QLQHHDTTHE AATYGSMRPY 
       660        670        680        690        700
RESPLLARAR RTESFHSYRD FQTINLNRNV ERAVPENGNL GPIQAEVKGA 
       710        720        730        740        750
TGECNISERK SPGVEIKSLR ELDSGLEVHK IAEGFSESKK RSSEDENENK 
       760        770        780        790        800
IEFRKKGGFE GGGFLGRKKV PYLASSPSTS DGGTDSPGTA SPSPTKTTPS 
       810 
PRHKKSDSSG QEYSL
Length:815
Mass (Da):88,984
Last modified:August 22, 2006 - v2
Checksum:i65131F449069B5B9
GO
Isoform 2 (identifier: Q9Y597-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     583-584: Missing.

Note: No experimental confirmation available.
Show »
Length:813
Mass (Da):88,770
Checksum:iC05036A26CBE314C
GO
Isoform 3 (identifier: Q9Y597-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-646: Missing.

Note: No experimental confirmation available.
Show »
Length:169
Mass (Da):18,514
Checksum:iBD47F0FDC67AFE56
GO

Sequence cautioni

The sequence AAH13868 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti207C → W in AAD42876 (PubMed:10508479).Curated1
Sequence conflicti503K → I in CAD38743 (PubMed:17974005).Curated1
Sequence conflicti742S → P in CAD38743 (PubMed:17974005).Curated1
Sequence conflicti803H → HK in CAD38743 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0271569F → V1 PublicationCorresponds to variant dbSNP:rs2275768Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0200681 – 646Missing in isoform 3. 1 PublicationAdd BLAST646
Alternative sequenceiVSP_020069583 – 584Missing in isoform 2. 1 Publication2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155110 mRNA. Translation: AAD42876.1.
AL365315, AC092799 Genomic DNA. Translation: CAD20310.1.
CH471100 Genomic DNA. Translation: EAW93345.1.
BC013868 mRNA. Translation: AAH13868.1. Sequence problems.
BC037896 mRNA. Translation: AAH37896.1.
BC094879 mRNA. Translation: AAH94879.1.
BC117188 mRNA. Translation: AAI17189.1.
BC126173 mRNA. Translation: AAI26174.1.
AL833887 mRNA. Translation: CAD38743.2.
AL834389 mRNA. Translation: CAD39051.1.
CCDSiCCDS1515.1. [Q9Y597-1]
RefSeqiNP_001306223.1. NM_001319294.1. [Q9Y597-2]
NP_001306224.1. NM_001319295.1.
NP_057205.2. NM_016121.4. [Q9Y597-1]
UniGeneiHs.335139.

Genome annotation databases

EnsembliENST00000259154; ENSP00000259154; ENSG00000136636. [Q9Y597-1]
GeneIDi51133.
KEGGihsa:51133.
UCSCiuc001hks.5. human. [Q9Y597-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF155110 mRNA. Translation: AAD42876.1.
AL365315, AC092799 Genomic DNA. Translation: CAD20310.1.
CH471100 Genomic DNA. Translation: EAW93345.1.
BC013868 mRNA. Translation: AAH13868.1. Sequence problems.
BC037896 mRNA. Translation: AAH37896.1.
BC094879 mRNA. Translation: AAH94879.1.
BC117188 mRNA. Translation: AAI17189.1.
BC126173 mRNA. Translation: AAI26174.1.
AL833887 mRNA. Translation: CAD38743.2.
AL834389 mRNA. Translation: CAD39051.1.
CCDSiCCDS1515.1. [Q9Y597-1]
RefSeqiNP_001306223.1. NM_001319294.1. [Q9Y597-2]
NP_001306224.1. NM_001319295.1.
NP_057205.2. NM_016121.4. [Q9Y597-1]
UniGeneiHs.335139.

3D structure databases

ProteinModelPortaliQ9Y597.
SMRiQ9Y597.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119320. 37 interactors.
IntActiQ9Y597. 11 interactors.
STRINGi9606.ENSP00000259154.

PTM databases

iPTMnetiQ9Y597.
PhosphoSitePlusiQ9Y597.

Polymorphism and mutation databases

BioMutaiKCTD3.
DMDMi112823993.

Proteomic databases

EPDiQ9Y597.
PaxDbiQ9Y597.
PeptideAtlasiQ9Y597.
PRIDEiQ9Y597.

Protocols and materials databases

DNASUi51133.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259154; ENSP00000259154; ENSG00000136636. [Q9Y597-1]
GeneIDi51133.
KEGGihsa:51133.
UCSCiuc001hks.5. human. [Q9Y597-1]

Organism-specific databases

CTDi51133.
DisGeNETi51133.
GeneCardsiKCTD3.
H-InvDBiHIX0001589.
HGNCiHGNC:21305. KCTD3.
HPAiHPA015142.
MIMi613272. gene.
neXtProtiNX_Q9Y597.
OpenTargetsiENSG00000136636.
PharmGKBiPA134945859.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2714. Eukaryota.
ENOG410XSWI. LUCA.
GeneTreeiENSGT00530000062980.
HOVERGENiHBG061001.
InParanoidiQ9Y597.
OMAiIILWSIQ.
OrthoDBiEOG091G0391.
PhylomeDBiQ9Y597.
TreeFamiTF313754.

Miscellaneous databases

ChiTaRSiKCTD3. human.
GenomeRNAii51133.
PROiPR:Q9Y597.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136636.
CleanExiHS_KCTD3.
ExpressionAtlasiQ9Y597. baseline and differential.
GenevisibleiQ9Y597. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiView protein in InterPro
IPR000210. BTB/POZ_dom.
IPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
PfamiView protein in Pfam
PF02214. BTB_2. 1 hit.
SMARTiView protein in SMART
SM00225. BTB. 1 hit.
SM00320. WD40. 3 hits.
SUPFAMiSSF50978. SSF50978. 2 hits.
SSF54695. SSF54695. 1 hit.
PROSITEiView protein in PROSITE
PS50097. BTB. 1 hit.
PS00678. WD_REPEATS_1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiKCTD3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y597
Secondary accession number(s): A0AV15
, D3DTA6, Q49AG7, Q504Q9, Q6PJN6, Q8ND58, Q8NDJ0, Q8WX16
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 22, 2006
Last sequence update: August 22, 2006
Last modified: June 7, 2017
This is version 140 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. 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.