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Protein

BTB/POZ domain-containing protein KCTD3

Gene

KCTD3

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

Functioni

Accessory subunit of potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3) upregulating its cell-surface expression and current density without affecting its voltage dependence and kinetics.By similarity

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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000136636.12
HGNCiHGNC:21305 KCTD3
MIMi613272 gene
neXtProtiNX_Q9Y597

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

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

Subunit structurei

Interacts with HCN3.By similarity

Protein-protein interaction databases

BioGridi119320, 131 interactors
IntActiQ9Y597, 12 interactors
STRINGi9606.ENSP00000259154

Structurei

3D structure databases

ProteinModelPortaliQ9Y597
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni512 – 815Interaction with HCN3By similarityAdd BLAST304

Sequence similaritiesi

Belongs to the KCTD3 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2714 Eukaryota
ENOG410XSWI LUCA
GeneTreeiENSGT00530000062980
HOVERGENiHBG061001
InParanoidiQ9Y597
KOiK21915
OMAiIILWSIQ
OrthoDBiEOG091G0391
PhylomeDBiQ9Y597
TreeFamiTF313754

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR036322 WD40_repeat_dom_sf
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
AC092799 Genomic DNA No translation available.
AL365315 Genomic DNA No translation available.
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

Similar proteinsi

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: May 23, 2018
This is version 147 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

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