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Protein

BTB/POZ domain-containing protein KCTD18

Gene

KCTD18

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein KCTD18
Gene namesi
Name:KCTD18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:26446. KCTD18.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671639.

Polymorphism and mutation databases

BioMutaiKCTD18.
DMDMi114149940.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 426426BTB/POZ domain-containing protein KCTD18PRO_0000248596Add
BLAST

Proteomic databases

EPDiQ6PI47.
MaxQBiQ6PI47.
PaxDbiQ6PI47.
PeptideAtlasiQ6PI47.
PRIDEiQ6PI47.

PTM databases

iPTMnetiQ6PI47.
PhosphoSiteiQ6PI47.

Expressioni

Gene expression databases

BgeeiQ6PI47.
CleanExiHS_KCTD18.
GenevisibleiQ6PI47. HS.

Organism-specific databases

HPAiHPA045498.
HPA058028.

Interactioni

Protein-protein interaction databases

BioGridi126238. 5 interactions.
STRINGi9606.ENSP00000352941.

Structurei

3D structure databases

ProteinModelPortaliQ6PI47.
SMRiQ6PI47. Positions 12-107.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini12 – 8069BTBAdd
BLAST

Sequence similaritiesi

Contains 1 BTB (POZ) domain.Curated

Phylogenomic databases

eggNOGiKOG2723. Eukaryota.
ENOG410Z155. LUCA.
GeneTreeiENSGT00530000064234.
HOGENOMiHOG000113202.
HOVERGENiHBG056754.
InParanoidiQ6PI47.
OMAiPQRVIKL.
OrthoDBiEOG7SV0VG.
PhylomeDBiQ6PI47.
TreeFamiTF315332.

Family and domain databases

InterProiIPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
[Graphical view]
PfamiPF02214. BTB_2. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q6PI47-1) [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
MEGHKAEEEV LDVLRLNVGG CIYTARRESL CRFKDSMLAS MFSGRFPLKT
60 70 80 90 100
DESGACVIDR DGRLFKYLLD YLHGEVQIPT DEQTRIALQE EADYFGIPYP
110 120 130 140 150
YSLSDHLANE METYSLRSNI ELKKALTDFC DSYGLVCNKP TVWVLHYLNT
160 170 180 190 200
SGASCESRII GVYATKTDGT DAIEKQLGGR IHSKGIFKRE AGNNVQYIWS
210 220 230 240 250
YYSVAELKKM MDAFDAWEGK GVSYWRVPHE LIECWTLEER PLLGSLRHMA
260 270 280 290 300
PIRKRRLITF NEADESVNYK TGPKPVRFLG PSTSTQIKVK NSASVTVSPA
310 320 330 340 350
SAIQTSAGAT ANRFQSGSRR KAAQRSAPSR ATALVGTGAP GHPQASPGAA
360 370 380 390 400
SAENGGTHLP PAKVLLSDKK PTPQRVIKLK RTPLCATAPC LPSPTATRQA
410 420
NSLKPLPGEA ARALGVRTEN GKNKGN
Length:426
Mass (Da):46,739
Last modified:September 5, 2006 - v2
Checksum:i8B08E399FF618EC4
GO
Isoform 2 (identifier: Q6PI47-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     222-234: VSYWRVPHELIEC → TVQFFYFMEAGGL
     235-426: Missing.

Show »
Length:234
Mass (Da):26,526
Checksum:i82189E82110295A5
GO
Isoform 3 (identifier: Q6PI47-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-205: Missing.
     206-254: ELKKMMDAFD...SLRHMAPIRK → MRDEVGAHKP...MWKMTRFCIS

Note: No experimental confirmation available.Curated
Show »
Length:221
Mass (Da):23,415
Checksum:iCB92CC18CD634252
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti200 – 2001S → G in AAH67755 (PubMed:15489334).Curated
Isoform 3 (identifier: Q6PI47-3)
Sequence conflicti43 – 431M → I in AK095137 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti333 – 3331A → V.2 Publications
Corresponds to variant rs13018579 [ dbSNP | Ensembl ].
VAR_027355
Natural varianti336 – 3361G → C.
Corresponds to variant rs10203154 [ dbSNP | Ensembl ].
VAR_027356
Natural varianti390 – 3901C → S.
Corresponds to variant rs3795969 [ dbSNP | Ensembl ].
VAR_027357
Natural varianti413 – 4131A → V.
Corresponds to variant rs10203042 [ dbSNP | Ensembl ].
VAR_027358

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 205205Missing in isoform 3. 1 PublicationVSP_020323Add
BLAST
Alternative sequencei206 – 25449ELKKM…APIRK → MRDEVGAHKPLDSLILDQNL SVNAEGKLGRCFHELLKLYM WKMTRFCIS in isoform 3. 1 PublicationVSP_020324Add
BLAST
Alternative sequencei222 – 23413VSYWR…ELIEC → TVQFFYFMEAGGL in isoform 2. 1 PublicationVSP_020325Add
BLAST
Alternative sequencei235 – 426192Missing in isoform 2. 1 PublicationVSP_020326Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055884 mRNA. Translation: BAB71035.1.
AK095137 mRNA. No translation available.
AC012459 Genomic DNA. Translation: AAY24308.1.
AC012459 Genomic DNA. Translation: AAY24309.1.
BC045189 mRNA. Translation: AAH45189.1.
BC067755 mRNA. Translation: AAH67755.1.
CCDSiCCDS2330.1. [Q6PI47-1]
RefSeqiNP_001308476.1. NM_001321547.1. [Q6PI47-1]
NP_689600.2. NM_152387.3. [Q6PI47-1]
UniGeneiHs.605775.

Genome annotation databases

EnsembliENST00000359878; ENSP00000352941; ENSG00000155729. [Q6PI47-1]
ENST00000409157; ENSP00000386751; ENSG00000155729. [Q6PI47-1]
GeneIDi130535.
KEGGihsa:130535.
UCSCiuc002uvs.4. human. [Q6PI47-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055884 mRNA. Translation: BAB71035.1.
AK095137 mRNA. No translation available.
AC012459 Genomic DNA. Translation: AAY24308.1.
AC012459 Genomic DNA. Translation: AAY24309.1.
BC045189 mRNA. Translation: AAH45189.1.
BC067755 mRNA. Translation: AAH67755.1.
CCDSiCCDS2330.1. [Q6PI47-1]
RefSeqiNP_001308476.1. NM_001321547.1. [Q6PI47-1]
NP_689600.2. NM_152387.3. [Q6PI47-1]
UniGeneiHs.605775.

3D structure databases

ProteinModelPortaliQ6PI47.
SMRiQ6PI47. Positions 12-107.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126238. 5 interactions.
STRINGi9606.ENSP00000352941.

PTM databases

iPTMnetiQ6PI47.
PhosphoSiteiQ6PI47.

Polymorphism and mutation databases

BioMutaiKCTD18.
DMDMi114149940.

Proteomic databases

EPDiQ6PI47.
MaxQBiQ6PI47.
PaxDbiQ6PI47.
PeptideAtlasiQ6PI47.
PRIDEiQ6PI47.

Protocols and materials databases

DNASUi130535.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359878; ENSP00000352941; ENSG00000155729. [Q6PI47-1]
ENST00000409157; ENSP00000386751; ENSG00000155729. [Q6PI47-1]
GeneIDi130535.
KEGGihsa:130535.
UCSCiuc002uvs.4. human. [Q6PI47-1]

Organism-specific databases

CTDi130535.
GeneCardsiKCTD18.
HGNCiHGNC:26446. KCTD18.
HPAiHPA045498.
HPA058028.
neXtProtiNX_Q6PI47.
PharmGKBiPA142671639.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2723. Eukaryota.
ENOG410Z155. LUCA.
GeneTreeiENSGT00530000064234.
HOGENOMiHOG000113202.
HOVERGENiHBG056754.
InParanoidiQ6PI47.
OMAiPQRVIKL.
OrthoDBiEOG7SV0VG.
PhylomeDBiQ6PI47.
TreeFamiTF315332.

Miscellaneous databases

ChiTaRSiKCTD18. human.
GenomeRNAii130535.
PROiQ6PI47.

Gene expression databases

BgeeiQ6PI47.
CleanExiHS_KCTD18.
GenevisibleiQ6PI47. HS.

Family and domain databases

InterProiIPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
[Graphical view]
PfamiPF02214. BTB_2. 1 hit.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
ProtoNetiSearch...

Publicationsi

  1. "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] (ISOFORMS 2 AND 3), VARIANT VAL-333.
    Tissue: Liver and Substantia nigra.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORM 1), VARIANT VAL-333.
    Tissue: Brain and Testis.

Entry informationi

Entry nameiKCD18_HUMAN
AccessioniPrimary (citable) accession number: Q6PI47
Secondary accession number(s): Q53T21
, Q6NW26, Q6PCD8, Q8N9B7, Q96N73
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: September 5, 2006
Last modified: July 6, 2016
This is version 100 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. 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.