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Protein

Kelch repeat and BTB domain-containing protein 12

Gene

KBTBD12

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...

Enzyme and pathway databases

BioCyciZFISH:G66-31037-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch repeat and BTB domain-containing protein 12
Alternative name(s):
Kelch domain-containing protein 6
Gene namesi
Name:KBTBD12
Synonyms:KLHDC6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:25731. KBTBD12.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi166348.
OpenTargetsiENSG00000187715.
PharmGKBiPA165697420.

Polymorphism and mutation databases

BioMutaiKBTBD12.
DMDMi172045732.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003247661 – 623Kelch repeat and BTB domain-containing protein 12Add BLAST623

Proteomic databases

EPDiQ3ZCT8.
PaxDbiQ3ZCT8.
PeptideAtlasiQ3ZCT8.
PRIDEiQ3ZCT8.

PTM databases

iPTMnetiQ3ZCT8.
PhosphoSitePlusiQ3ZCT8.

Expressioni

Gene expression databases

BgeeiENSG00000187715.
CleanExiHS_KLHDC6.
ExpressionAtlasiQ3ZCT8. baseline and differential.
GenevisibleiQ3ZCT8. HS.

Organism-specific databases

HPAiHPA044182.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000385879.

Structurei

3D structure databases

ProteinModelPortaliQ3ZCT8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini31 – 98BTBPROSITE-ProRule annotationAdd BLAST68
Domaini133 – 235BACKAdd BLAST103
Repeati386 – 436Kelch 1Add BLAST51
Repeati437 – 492Kelch 2Add BLAST56
Repeati494 – 547Kelch 3Add BLAST54
Repeati553 – 603Kelch 4Add BLAST51

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 4 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00850000132244.
HOGENOMiHOG000113233.
HOVERGENiHBG108066.
InParanoidiQ3ZCT8.
OMAiYMYNAAL.
OrthoDBiEOG091G0L0D.
PhylomeDBiQ3ZCT8.
TreeFamiTF351656.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR030583. KBTBD12.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF25. PTHR24412:SF25. 1 hit.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 4 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 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: Q3ZCT8-1) [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
MECKIEGKEK YQHSLNLLNK IQNMKELAEM IDVVLTAEGE KFPCHRLVLA
60 70 80 90 100
AFSPYFKAMF TCGLLECNQR EVILYDITAE SVSVLLNYMY NAALEINNAN
110 120 130 140 150
VQTVAMAAYF MQMEEVFSVC QKYMMDHMDA SNCLGIYYFA KQIGAEDLSD
160 170 180 190 200
RSKKYLYQHF AEVSLHEEIL EIEVHQFLTL IKSDDLNISR EESILDLVLR
210 220 230 240 250
WVNHNKELRT VHLVELLKQV RLELVNPSFL RQALRRNTML LCDADCVDII
260 270 280 290 300
QNAFKAIKTP QQHSLNLRYG METTSLLLCI GNNSSGIRSR HRSYGDASFC
310 320 330 340 350
YDPVSRKTYF ISSPKYGEGL GTVCTGVVME NNTIIVAGEA SASKLSRQKN
360 370 380 390 400
KNVEIYRYHD RGNQFWEKLC TAEFRELYAL GSIHNDLYVI GGQMKIKNQY
410 420 430 440 450
LITNCVDKYS VERDNWKRVS PLPLQLACHA VVTVNNKLYV IGGWTPQMDL
460 470 480 490 500
PDEEPDRLSN KLLQYDPSQD QWSVRAPMKY SKYRFSTAVV NSEIYVLGGI
510 520 530 540 550
GCVGQDKGQV RKCLDVVEIY NPDGDFWREG PPMPSPLLSL RTNSTNAGAV
560 570 580 590 600
DGKLYVCGGF HGADRHEVIS KEILELDPWE NQWNVVAINV LMHDSYDVCL
610 620
VARMNPRDLI PPPSDLVEEG NEH
Length:623
Mass (Da):71,096
Last modified:March 18, 2008 - v2
Checksum:i061A145B973A8589
GO
Isoform 2 (identifier: Q3ZCT8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-425: Missing.
     426-447: LACHAVVTVNNKLYVIGGWTPQ → MIEETSFGKSYAQLNFENSMLW

Note: No experimental confirmation available.
Show »
Length:198
Mass (Da):22,410
Checksum:iE593C19C989617DD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti547A → S in AAH41365 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05005522Q → K.Corresponds to variant rs4141499dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0323541 – 425Missing in isoform 2. 1 PublicationAdd BLAST425
Alternative sequenceiVSP_032355426 – 447LACHA…GWTPQ → MIEETSFGKSYAQLNFENSM LW in isoform 2. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK128176 mRNA. Translation: BAC87309.1.
AC011311 Genomic DNA. No translation available.
BC041365 mRNA. Translation: AAH41365.1.
CCDSiCCDS33848.2. [Q3ZCT8-1]
RefSeqiNP_997218.2. NM_207335.2. [Q3ZCT8-1]
XP_005247224.1. XM_005247167.1. [Q3ZCT8-1]
XP_005247225.1. XM_005247168.4. [Q3ZCT8-1]
XP_011510792.1. XM_011512490.2. [Q3ZCT8-1]
UniGeneiHs.132087.

Genome annotation databases

EnsembliENST00000343941; ENSP00000345478; ENSG00000187715. [Q3ZCT8-2]
ENST00000405109; ENSP00000385957; ENSG00000187715. [Q3ZCT8-1]
ENST00000405256; ENSP00000385879; ENSG00000187715. [Q3ZCT8-1]
GeneIDi166348.
KEGGihsa:166348.
UCSCiuc003eka.5. human. [Q3ZCT8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK128176 mRNA. Translation: BAC87309.1.
AC011311 Genomic DNA. No translation available.
BC041365 mRNA. Translation: AAH41365.1.
CCDSiCCDS33848.2. [Q3ZCT8-1]
RefSeqiNP_997218.2. NM_207335.2. [Q3ZCT8-1]
XP_005247224.1. XM_005247167.1. [Q3ZCT8-1]
XP_005247225.1. XM_005247168.4. [Q3ZCT8-1]
XP_011510792.1. XM_011512490.2. [Q3ZCT8-1]
UniGeneiHs.132087.

3D structure databases

ProteinModelPortaliQ3ZCT8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000385879.

PTM databases

iPTMnetiQ3ZCT8.
PhosphoSitePlusiQ3ZCT8.

Polymorphism and mutation databases

BioMutaiKBTBD12.
DMDMi172045732.

Proteomic databases

EPDiQ3ZCT8.
PaxDbiQ3ZCT8.
PeptideAtlasiQ3ZCT8.
PRIDEiQ3ZCT8.

Protocols and materials databases

DNASUi166348.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343941; ENSP00000345478; ENSG00000187715. [Q3ZCT8-2]
ENST00000405109; ENSP00000385957; ENSG00000187715. [Q3ZCT8-1]
ENST00000405256; ENSP00000385879; ENSG00000187715. [Q3ZCT8-1]
GeneIDi166348.
KEGGihsa:166348.
UCSCiuc003eka.5. human. [Q3ZCT8-1]

Organism-specific databases

CTDi166348.
DisGeNETi166348.
GeneCardsiKBTBD12.
HGNCiHGNC:25731. KBTBD12.
HPAiHPA044182.
neXtProtiNX_Q3ZCT8.
OpenTargetsiENSG00000187715.
PharmGKBiPA165697420.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00850000132244.
HOGENOMiHOG000113233.
HOVERGENiHBG108066.
InParanoidiQ3ZCT8.
OMAiYMYNAAL.
OrthoDBiEOG091G0L0D.
PhylomeDBiQ3ZCT8.
TreeFamiTF351656.

Enzyme and pathway databases

BioCyciZFISH:G66-31037-MONOMER.

Miscellaneous databases

GenomeRNAii166348.
PROiQ3ZCT8.

Gene expression databases

BgeeiENSG00000187715.
CleanExiHS_KLHDC6.
ExpressionAtlasiQ3ZCT8. baseline and differential.
GenevisibleiQ3ZCT8. HS.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR030583. KBTBD12.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24412:SF25. PTHR24412:SF25. 1 hit.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 4 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 4 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKBTBC_HUMAN
AccessioniPrimary (citable) accession number: Q3ZCT8
Secondary accession number(s): B5MCC6, Q6ZRK1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: November 2, 2016
This is version 96 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 3
    Human chromosome 3: 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.