UniProtKB - Q53G59 (KLH12_HUMAN)
Kelch-like protein 12
KLHL12
Functioni
: protein ubiquitination Pathwayi
This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.
GO - Molecular functioni
- identical protein binding Source: IntAct
GO - Biological processi
- COPII vesicle coating Source: UniProtKB
- endoplasmic reticulum to Golgi vesicle-mediated transport Source: UniProtKB
- negative regulation of canonical Wnt signaling pathway Source: Reactome
- neural crest cell development Source: UniProtKB
- neural crest formation Source: UniProtKB
- protein monoubiquitination Source: UniProtKB
- Wnt signaling pathway Source: UniProtKB
Keywordsi
Biological process | ER-Golgi transport, Transport, Ubl conjugation pathway, Wnt signaling pathway |
Enzyme and pathway databases
PathwayCommonsi | Q53G59 |
Reactomei | R-HSA-4641258, Degradation of DVL |
UniPathwayi | UPA00143 |
Names & Taxonomyi
Protein namesi | Recommended name: Kelch-like protein 12Alternative name(s): CUL3-interacting protein 11 Publication DKIR homolog1 Publication Short name: hDKIR1 Publication |
Gene namesi | Name:KLHL12 Synonyms:C3IP11 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000117153.15 |
HGNCi | HGNC:19360, KLHL12 |
MIMi | 614522, gene |
neXtProti | NX_Q53G59 |
Subcellular locationi
Other locations
- COPII-coated vesicle 2 Publications
Cytoskeleton
- centriolar satellite Source: HPA
Cytosol
- cytosol Source: Reactome
Golgi apparatus
- Golgi membrane Source: GOC
Other locations
- COPII vesicle coat Source: UniProtKB
- COPII-coated ER to Golgi transport vesicle Source: UniProtKB
- Cul3-RING ubiquitin ligase complex Source: UniProtKB
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
Cytoplasmic vesiclePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 15 | H → A: Abolished ubiquitination by the SCF(FBXL17) complex. 1 Publication | 1 | |
Mutagenesisi | 34 | D → A: Abolished ubiquitination by the SCF(FBXL17) complex. 1 Publication | 1 | |
Mutagenesisi | 50 | V → A: Increased recognition and ubiquitination by the SCF(FBXL17) complex. 1 Publication | 1 | |
Mutagenesisi | 60 | A → E or K: Abolished ubiquitination by the SCF(FBXL17) complex. 1 Publication | 1 | |
Mutagenesisi | 289 – 290 | FG → AA: Abolishes interaction with SEC31A and subsequent monoubiquitination of SEC31A. Abolishes ubiquitination of PEF1. 2 Publications | 2 |
Organism-specific databases
DisGeNETi | 59349 |
OpenTargetsi | ENSG00000117153 |
PharmGKBi | PA134952416 |
Miscellaneous databases
Pharosi | Q53G59, Tbio |
Polymorphism and mutation databases
BioMutai | KLHL12 |
DMDMi | 97054498 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000234349 | 1 – 568 | Kelch-like protein 12Add BLAST | 568 |
Post-translational modificationi
Keywords - PTMi
Ubl conjugationProteomic databases
EPDi | Q53G59 |
jPOSTi | Q53G59 |
MassIVEi | Q53G59 |
MaxQBi | Q53G59 |
PaxDbi | Q53G59 |
PeptideAtlasi | Q53G59 |
PRIDEi | Q53G59 |
ProteomicsDBi | 62474 [Q53G59-1] 62475 [Q53G59-2] |
PTM databases
iPTMneti | Q53G59 |
MetOSitei | Q53G59 |
PhosphoSitePlusi | Q53G59 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000117153, Expressed in oocyte and 211 other tissues |
ExpressionAtlasi | Q53G59, baseline and differential |
Genevisiblei | Q53G59, HS |
Organism-specific databases
HPAi | ENSG00000117153, Low tissue specificity |
Interactioni
Subunit structurei
Component of the BCR(KLHL12) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL12 and RBX1 (PubMed:22358839). This complex interacts with DVL3 upon activation of the Wnt signaling pathway by WNT3A (PubMed:16547521).
Interacts with DRD4, KLHL2 and SEC31A (PubMed:15383316,PubMed:18303015, PubMed:22358839).
Interacts with PEF1 and PDCD6/ALG-2; interaction takes place in response to cytosolic calcium increase and leads to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B) (PubMed:27716508).
5 PublicationsBinary interactionsi
Q53G59
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 121890, 101 interactors |
CORUMi | Q53G59 |
IntActi | Q53G59, 83 interactors |
MINTi | Q53G59 |
STRINGi | 9606.ENSP00000356230 |
Miscellaneous databases
RNActi | Q53G59, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q53G59 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q53G59 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 33 – 100 | BTBPROSITE-ProRule annotationAdd BLAST | 68 | |
Domaini | 135 – 236 | BACKAdd BLAST | 102 | |
Repeati | 282 – 329 | Kelch 1Add BLAST | 48 | |
Repeati | 331 – 379 | Kelch 2Add BLAST | 49 | |
Repeati | 380 – 426 | Kelch 3Add BLAST | 47 | |
Repeati | 427 – 473 | Kelch 4Add BLAST | 47 | |
Repeati | 475 – 520 | Kelch 5Add BLAST | 46 | |
Repeati | 522 – 567 | Kelch 6Add BLAST | 46 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 405 – 568 | Interaction with DVL31 PublicationAdd BLAST | 164 |
Domaini
Keywords - Domaini
Kelch repeat, RepeatPhylogenomic databases
eggNOGi | KOG4441, Eukaryota |
GeneTreei | ENSGT00940000155199 |
HOGENOMi | CLU_004253_14_2_1 |
InParanoidi | Q53G59 |
OMAi | LGTQRCD |
OrthoDBi | 709680at2759 |
PhylomeDBi | Q53G59 |
TreeFami | TF329218 |
Family and domain databases
Gene3Di | 2.120.10.80, 1 hit |
InterProi | View protein in InterPro IPR011705, BACK IPR017096, BTB-kelch_protein IPR000210, BTB/POZ_dom IPR015915, Kelch-typ_b-propeller IPR006652, Kelch_1 IPR011333, SKP1/BTB/POZ_sf |
Pfami | View protein in Pfam PF07707, BACK, 1 hit PF00651, BTB, 1 hit PF01344, Kelch_1, 6 hits |
PIRSFi | PIRSF037037, Kelch-like_protein_gigaxonin, 1 hit |
SMARTi | View protein in SMART SM00875, BACK, 1 hit SM00225, BTB, 1 hit SM00612, Kelch, 6 hits |
SUPFAMi | SSF117281, SSF117281, 1 hit SSF54695, SSF54695, 1 hit |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGGIMAPKDI MTNTHAKSIL NSMNSLRKSN TLCDVTLRVE QKDFPAHRIV
60 70 80 90 100
LAACSDYFCA MFTSELSEKG KPYVDIQGLT ASTMEILLDF VYTETVHVTV
110 120 130 140 150
ENVQELLPAA CLLQLKGVKQ ACCEFLESQL DPSNCLGIRD FAETHNCVDL
160 170 180 190 200
MQAAEVFSQK HFPEVVQHEE FILLSQGEVE KLIKCDEIQV DSEEPVFEAV
210 220 230 240 250
INWVKHAKKE REESLPNLLQ YVRMPLLTPR YITDVIDAEP FIRCSLQCRD
260 270 280 290 300
LVDEAKKFHL RPELRSQMQG PRTRARLGAN EVLLVVGGFG SQQSPIDVVE
310 320 330 340 350
KYDPKTQEWS FLPSITRKRR YVASVSLHDR IYVIGGYDGR SRLSSVECLD
360 370 380 390 400
YTADEDGVWY SVAPMNVRRG LAGATTLGDM IYVSGGFDGS RRHTSMERYD
410 420 430 440 450
PNIDQWSMLG DMQTAREGAG LVVASGVIYC LGGYDGLNIL NSVEKYDPHT
460 470 480 490 500
GHWTNVTPMA TKRSGAGVAL LNDHIYVVGG FDGTAHLSSV EAYNIRTDSW
510 520 530 540 550
TTVTSMTTPR CYVGATVLRG RLYAIAGYDG NSLLSSIECY DPIIDSWEVV
560
TSMGTQRCDA GVCVLREK
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3QSX3 | J3QSX3_HUMAN | Kelch-like protein 12 | KLHL12 | 315 | Annotation score: | ||
Q9H7R2 | Q9H7R2_HUMAN | Kelch-like protein 12 | KLHL12 | 204 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 122 | C → R in BAD96792 (Ref. 3) Curated | 1 | |
Sequence conflicti | 197 – 198 | FE → LG in BAD96792 (Ref. 3) Curated | 2 | |
Sequence conflicti | 394 | T → A in BAD96792 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_050049 | 72 | P → L. Corresponds to variant dbSNP:rs12569087Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042975 | 1 | M → MDVNKFEASVGFLDVKKFLS TWKLQNPRTHFVLSPHCFM in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF190900 mRNA Translation: AAG17175.1 AK027656 mRNA Translation: BAB55271.1 AK301791 mRNA Translation: BAH13554.1 AK223072 mRNA Translation: BAD96792.1 AC096632 Genomic DNA No translation available. BC003183 mRNA Translation: AAH03183.1 BC004175 mRNA Translation: AAH04175.1 |
CCDSi | CCDS1429.1 [Q53G59-1] |
RefSeqi | NP_001289980.1, NM_001303051.1 [Q53G59-2] NP_001290038.1, NM_001303109.1 NP_067646.1, NM_021633.3 [Q53G59-1] |
Genome annotation databases
Ensembli | ENST00000367261; ENSP00000356230; ENSG00000117153 [Q53G59-1] |
GeneIDi | 59349 |
KEGGi | hsa:59349 |
UCSCi | uc001gyo.2, human [Q53G59-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF190900 mRNA Translation: AAG17175.1 AK027656 mRNA Translation: BAB55271.1 AK301791 mRNA Translation: BAH13554.1 AK223072 mRNA Translation: BAD96792.1 AC096632 Genomic DNA No translation available. BC003183 mRNA Translation: AAH03183.1 BC004175 mRNA Translation: AAH04175.1 |
CCDSi | CCDS1429.1 [Q53G59-1] |
RefSeqi | NP_001289980.1, NM_001303051.1 [Q53G59-2] NP_001290038.1, NM_001303109.1 NP_067646.1, NM_021633.3 [Q53G59-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2VPJ | X-ray | 1.85 | A | 268-567 | [»] | |
6TTK | X-ray | 2.38 | A/B/C/D | 268-567 | [»] | |
6V7O | X-ray | 2.90 | A/B | 268-567 | [»] | |
SMRi | Q53G59 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 121890, 101 interactors |
CORUMi | Q53G59 |
IntActi | Q53G59, 83 interactors |
MINTi | Q53G59 |
STRINGi | 9606.ENSP00000356230 |
PTM databases
iPTMneti | Q53G59 |
MetOSitei | Q53G59 |
PhosphoSitePlusi | Q53G59 |
Polymorphism and mutation databases
BioMutai | KLHL12 |
DMDMi | 97054498 |
Proteomic databases
EPDi | Q53G59 |
jPOSTi | Q53G59 |
MassIVEi | Q53G59 |
MaxQBi | Q53G59 |
PaxDbi | Q53G59 |
PeptideAtlasi | Q53G59 |
PRIDEi | Q53G59 |
ProteomicsDBi | 62474 [Q53G59-1] 62475 [Q53G59-2] |
Protocols and materials databases
Antibodypediai | 34533, 315 antibodies |
DNASUi | 59349 |
Genome annotation databases
Ensembli | ENST00000367261; ENSP00000356230; ENSG00000117153 [Q53G59-1] |
GeneIDi | 59349 |
KEGGi | hsa:59349 |
UCSCi | uc001gyo.2, human [Q53G59-1] |
Organism-specific databases
CTDi | 59349 |
DisGeNETi | 59349 |
EuPathDBi | HostDB:ENSG00000117153.15 |
GeneCardsi | KLHL12 |
HGNCi | HGNC:19360, KLHL12 |
HPAi | ENSG00000117153, Low tissue specificity |
MIMi | 614522, gene |
neXtProti | NX_Q53G59 |
OpenTargetsi | ENSG00000117153 |
PharmGKBi | PA134952416 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4441, Eukaryota |
GeneTreei | ENSGT00940000155199 |
HOGENOMi | CLU_004253_14_2_1 |
InParanoidi | Q53G59 |
OMAi | LGTQRCD |
OrthoDBi | 709680at2759 |
PhylomeDBi | Q53G59 |
TreeFami | TF329218 |
Enzyme and pathway databases
UniPathwayi | UPA00143 |
PathwayCommonsi | Q53G59 |
Reactomei | R-HSA-4641258, Degradation of DVL |
Miscellaneous databases
BioGRID-ORCSi | 59349, 12 hits in 845 CRISPR screens |
ChiTaRSi | KLHL12, human |
EvolutionaryTracei | Q53G59 |
GeneWikii | KLHL12 |
GenomeRNAii | 59349 |
Pharosi | Q53G59, Tbio |
PROi | PR:Q53G59 |
RNActi | Q53G59, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000117153, Expressed in oocyte and 211 other tissues |
ExpressionAtlasi | Q53G59, baseline and differential |
Genevisiblei | Q53G59, HS |
Family and domain databases
Gene3Di | 2.120.10.80, 1 hit |
InterProi | View protein in InterPro IPR011705, BACK IPR017096, BTB-kelch_protein IPR000210, BTB/POZ_dom IPR015915, Kelch-typ_b-propeller IPR006652, Kelch_1 IPR011333, SKP1/BTB/POZ_sf |
Pfami | View protein in Pfam PF07707, BACK, 1 hit PF00651, BTB, 1 hit PF01344, Kelch_1, 6 hits |
PIRSFi | PIRSF037037, Kelch-like_protein_gigaxonin, 1 hit |
SMARTi | View protein in SMART SM00875, BACK, 1 hit SM00225, BTB, 1 hit SM00612, Kelch, 6 hits |
SUPFAMi | SSF117281, SSF117281, 1 hit SSF54695, SSF54695, 1 hit |
PROSITEi | View protein in PROSITE PS50097, BTB, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KLH12_HUMAN | |
Accessioni | Q53G59Primary (citable) accession number: Q53G59 Secondary accession number(s): A6NEN8, B7Z7B8, Q9HBX5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 16, 2006 |
Last sequence update: | May 16, 2006 | |
Last modified: | December 2, 2020 | |
This is version 150 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations