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Q9Y597

- KCTD3_HUMAN

UniProt

Q9Y597 - KCTD3_HUMAN

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Protein

BTB/POZ domain-containing protein KCTD3

Gene

KCTD3

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

Functioni

GO - Biological processi

  1. protein homooligomerization Source: InterPro
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:21305. KCTD3.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134945859.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 815815BTB/POZ domain-containing protein KCTD3PRO_0000247839Add
BLAST

Proteomic databases

MaxQBiQ9Y597.
PaxDbiQ9Y597.
PRIDEiQ9Y597.

PTM databases

PhosphoSiteiQ9Y597.

Expressioni

Tissue specificityi

Broadly expressed in normal tissues.1 Publication

Gene expression databases

BgeeiQ9Y597.
CleanExiHS_KCTD3.
ExpressionAtlasiQ9Y597. baseline and differential.
GenevestigatoriQ9Y597.

Organism-specific databases

HPAiHPA015142.

Interactioni

Protein-protein interaction databases

BioGridi119320. 22 interactions.
IntActiQ9Y597. 4 interactions.
STRINGi9606.ENSP00000259154.

Structurei

3D structure databases

ProteinModelPortaliQ9Y597.
SMRiQ9Y597. Positions 17-119.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini18 – 8770BTBPROSITE-ProRule annotationAdd
BLAST
Repeati224 – 27148WD 1Add
BLAST
Repeati276 – 31338WD 2Add
BLAST
Repeati315 – 35036WD 3Add
BLAST
Repeati419 – 45739WD 4Add
BLAST
Repeati537 – 57741WD 5Add
BLAST

Sequence similaritiesi

Belongs to the KCTD3 family.Curated
Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 5 WD repeats.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiNOG316237.
GeneTreeiENSGT00390000013581.
HOVERGENiHBG061001.
InParanoidiQ9Y597.
OMAiIILWSIQ.
OrthoDBiEOG7P8P7H.
PhylomeDBiQ9Y597.
TreeFamiTF313754.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
3.30.710.10. 1 hit.
InterProiIPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR003131. T1-type_BTB.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF02214. BTB_2. 1 hit.
[Graphical view]
SMARTiSM00225. BTB. 1 hit.
SM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
SSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
PS00678. WD_REPEATS_1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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 AAH13868.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti207 – 2071C → W in AAD42876. (PubMed:10508479)Curated
Sequence conflicti503 – 5031K → I in CAD38743. (PubMed:17974005)Curated
Sequence conflicti742 – 7421S → P in CAD38743. (PubMed:17974005)Curated
Sequence conflicti803 – 8031H → HK in CAD38743. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91F → V.1 Publication
Corresponds to variant rs2275768 [ dbSNP | Ensembl ].
VAR_027156

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 646646Missing in isoform 3. 1 PublicationVSP_020068Add
BLAST
Alternative sequencei583 – 5842Missing in isoform 2. 1 PublicationVSP_020069

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_057205.2. NM_016121.3. [Q9Y597-1]
XP_005273213.1. XM_005273156.1. [Q9Y597-2]
UniGeneiHs.335139.

Genome annotation databases

EnsembliENST00000259154; ENSP00000259154; ENSG00000136636. [Q9Y597-1]
GeneIDi51133.
KEGGihsa:51133.
UCSCiuc001hks.3. human. [Q9Y597-1]
uc001hkt.3. human. [Q9Y597-2]

Polymorphism databases

DMDMi112823993.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS1515.1. [Q9Y597-1 ]
RefSeqi NP_057205.2. NM_016121.3. [Q9Y597-1 ]
XP_005273213.1. XM_005273156.1. [Q9Y597-2 ]
UniGenei Hs.335139.

3D structure databases

ProteinModelPortali Q9Y597.
SMRi Q9Y597. Positions 17-119.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119320. 22 interactions.
IntActi Q9Y597. 4 interactions.
STRINGi 9606.ENSP00000259154.

PTM databases

PhosphoSitei Q9Y597.

Polymorphism databases

DMDMi 112823993.

Proteomic databases

MaxQBi Q9Y597.
PaxDbi Q9Y597.
PRIDEi Q9Y597.

Protocols and materials databases

DNASUi 51133.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000259154 ; ENSP00000259154 ; ENSG00000136636 . [Q9Y597-1 ]
GeneIDi 51133.
KEGGi hsa:51133.
UCSCi uc001hks.3. human. [Q9Y597-1 ]
uc001hkt.3. human. [Q9Y597-2 ]

Organism-specific databases

CTDi 51133.
GeneCardsi GC01P215740.
H-InvDB HIX0001589.
HGNCi HGNC:21305. KCTD3.
HPAi HPA015142.
MIMi 613272. gene.
neXtProti NX_Q9Y597.
PharmGKBi PA134945859.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG316237.
GeneTreei ENSGT00390000013581.
HOVERGENi HBG061001.
InParanoidi Q9Y597.
OMAi IILWSIQ.
OrthoDBi EOG7P8P7H.
PhylomeDBi Q9Y597.
TreeFami TF313754.

Miscellaneous databases

GenomeRNAii 51133.
NextBioi 53973.
PROi Q9Y597.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y597.
CleanExi HS_KCTD3.
ExpressionAtlasi Q9Y597. baseline and differential.
Genevestigatori Q9Y597.

Family and domain databases

Gene3Di 2.130.10.10. 2 hits.
3.30.710.10. 1 hit.
InterProi IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR003131. T1-type_BTB.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF02214. BTB_2. 1 hit.
[Graphical view ]
SMARTi SM00225. BTB. 1 hit.
SM00320. WD40. 3 hits.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 2 hits.
SSF54695. SSF54695. 1 hit.
PROSITEi PS50097. BTB. 1 hit.
PS00678. WD_REPEATS_1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT VAL-9.
    Tissue: Brain, Lymph and Placenta.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 158-815.
    Tissue: Brain and Testis.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiKCTD3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y597
Secondary accession number(s): A0AV15
, D3DTA6, Q49AG7, Q504Q9, Q6PJN6, Q8ND58, Q8NDJ0, Q8WX16
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 22, 2006
Last sequence update: August 22, 2006
Last modified: October 29, 2014
This is version 114 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

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.

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

External Data

Dasty 3