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Aliases for KLHL12 Gene

Aliases for KLHL12 Gene

  • Kelch-Like Family Member 12 2 3
  • CUL3-Interacting Protein 1 3 4
  • DKIR Homolog 3 4
  • C3IP1 3 4
  • DKIR 3 6
  • Kelch-Like 12 (Drosophila) 2
  • Kelch-Like Protein C3IP1 3
  • Kelch-Like Protein 12 3
  • HDKIR 4

External Ids for KLHL12 Gene

Previous GeneCards Identifiers for KLHL12 Gene

  • GC01M200149
  • GC01M199591
  • GC01M201126
  • GC01M174025

Summaries for KLHL12 Gene

Entrez Gene Summary for KLHL12 Gene

  • This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for KLHL12 Gene

KLHL12 (Kelch-Like Family Member 12) is a Protein Coding gene. Among its related pathways are Protein Stability and Canonical Wnt signaling pathway. An important paralog of this gene is KLHL10.

UniProtKB/Swiss-Prot for KLHL12 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport. The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3. The BCR(KLHL12) complex also mediates polyubiquitination of DRD4, without leading to degradation of DRD4.

Gene Wiki entry for KLHL12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL12 Gene

Genomics for KLHL12 Gene

Regulatory Elements for KLHL12 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KLHL12 Gene

Start:
202,891,100 bp from pter
End:
202,928,638 bp from pter
Size:
37,539 bases
Orientation:
Minus strand

Genomic View for KLHL12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KLHL12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL12 Gene

Proteins for KLHL12 Gene

  • Protein details for KLHL12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53G59-KLH12_HUMAN
    Recommended name:
    Kelch-like protein 12
    Protein Accession:
    Q53G59
    Secondary Accessions:
    • A6NEN8
    • B7Z7B8
    • Q9HBX5

    Protein attributes for KLHL12 Gene

    Size:
    568 amino acids
    Molecular mass:
    63277 Da
    Quaternary structure:
    • Component of the BCR(KLHL12) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL12 and RBX1. This complex interacts with DVL3 upon activation of the Wnt signaling pathway by WNT3A. Interacts with DRD4, KLHL12 and SEC31A.

    Three dimensional structures from OCA and Proteopedia for KLHL12 Gene

    Alternative splice isoforms for KLHL12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL12 Gene

Proteomics data for KLHL12 Gene at MOPED

Post-translational modifications for KLHL12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL12 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KLHL12 (KLHL12)

No data available for DME Specific Peptides for KLHL12 Gene

Domains for KLHL12 Gene

Gene Families for KLHL12 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • KLHL :Kelch-like

Graphical View of Domain Structure for InterPro Entry

Q53G59

UniProtKB/Swiss-Prot:

KLH12_HUMAN :
  • Q53G59
Domain:
  • The BTB domain is required for interaction with CUL3
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 6 Kelch repeats.
genes like me logo Genes that share domains with KLHL12: view

Function for KLHL12 Gene

Molecular function for KLHL12 Gene

UniProtKB/Swiss-Prot Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport. The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3. The BCR(KLHL12) complex also mediates polyubiquitination of DRD4, without leading to degradation of DRD4.

Gene Ontology (GO) - Molecular Function for KLHL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with KLHL12: view

Phenotypes for KLHL12 Gene

genes like me logo Genes that share phenotypes with KLHL12: view

Animal Model Products

CRISPR Products

miRNA for KLHL12 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KLHL12 Gene

Localization for KLHL12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL12 Gene

Cytoplasmic vesicle, COPII-coated vesicle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KLHL12 Gene COMPARTMENTS Subcellular localization image for KLHL12 gene
Compartment Confidence
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for KLHL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IMP 22358839
GO:0005829 cytosol TAS --
GO:0030134 ER to Golgi transport vesicle IDA 22358839
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 22358839
genes like me logo Genes that share ontologies with KLHL12: view

Pathways for KLHL12 Gene

genes like me logo Genes that share pathways with KLHL12: view

Pathways by source for KLHL12 Gene

1 Cell Signaling Technology pathway for KLHL12 Gene
1 BioSystems pathway for KLHL12 Gene

UniProtKB/Swiss-Prot Q53G59-KLH12_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for KLHL12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006513 protein monoubiquitination IDA 22358839
GO:0006888 ER to Golgi vesicle-mediated transport IDA 22358839
GO:0016055 Wnt signaling pathway IMP 20970343
GO:0048208 COPII vesicle coating IMP 22358839
GO:0090090 negative regulation of canonical Wnt signaling pathway TAS --
genes like me logo Genes that share ontologies with KLHL12: view

Transcripts for KLHL12 Gene

Unigene Clusters for KLHL12 Gene

Kelch-like family member 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KLHL12

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL12 Gene

No ASD Table

Relevant External Links for KLHL12 Gene

GeneLoc Exon Structure for
KLHL12
ECgene alternative splicing isoforms for
KLHL12

Expression for KLHL12 Gene

mRNA expression in normal human tissues for KLHL12 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KLHL12 Gene

SOURCE GeneReport for Unigene cluster for KLHL12 Gene Hs.706793

mRNA Expression by UniProt/SwissProt for KLHL12 Gene

Q53G59-KLH12_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in testis and at lower levels in the submandibular salivary gland.
genes like me logo Genes that share expressions with KLHL12: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KLHL12 Gene

Orthologs for KLHL12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL12 35
  • 99.47 (n)
  • 100 (a)
KLHL12 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KLHL12 35
  • 88.15 (n)
  • 97.91 (a)
KLHL12 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLHL12 35
  • 93.43 (n)
  • 99.82 (a)
KLHL12 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl12 35
  • 91 (n)
  • 99.26 (a)
Klhl12 16
Klhl12 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL12 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL12 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl12 35
  • 91.43 (n)
  • 99.47 (a)
chicken
(Gallus gallus)
Aves KLHL12 36
  • 84 (a)
OneToOne
LOC101748977 35
  • 77.76 (n)
  • 92.63 (a)
lizard
(Anolis carolinensis)
Reptilia KLHL12 36
  • 96 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32296 35
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl12 35
  • 77.45 (n)
  • 92.23 (a)
zebrafish
(Danio rerio)
Actinopterygii klhl12 35
  • 75.77 (n)
  • 90.43 (a)
klhl12 36
  • 91 (a)
OneToOne
wufi60g03 35
Species with no ortholog for KLHL12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL12 Gene

ENSEMBL:
Gene Tree for KLHL12 (if available)
TreeFam:
Gene Tree for KLHL12 (if available)

Paralogs for KLHL12 Gene

Pseudogenes.org Pseudogenes for KLHL12 Gene

genes like me logo Genes that share paralogs with KLHL12: view

Variants for KLHL12 Gene

Sequence variations from dbSNP and Humsavar for KLHL12 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs960707 -- 202,919,095(+) AAAAA(A/T)TTTTG intron-variant
rs1042990 -- 202,892,438(-) CACTA(C/T)GTGCA utr-variant-3-prime
rs1418443 -- 202,923,847(-) CTATC(A/G)TCTTA intron-variant
rs1539357 -- 202,909,326(-) CTAGT(A/T)TGTTA intron-variant
rs1977837 -- 202,928,268(-) AGACG(A/G)AGTCT upstream-variant-2KB, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLHL12 Gene

Variant ID Type Subtype PubMed ID
nsv832359 CNV Loss 17160897
nsv873108 CNV Gain 21882294

Relevant External Links for KLHL12 Gene

HapMap Linkage Disequilibrium report
KLHL12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLHL12 Gene

Disorders for KLHL12 Gene

Relevant External Links for KLHL12

Genetic Association Database (GAD)
KLHL12
Human Genome Epidemiology (HuGE) Navigator
KLHL12
genes like me logo Genes that share disorders with KLHL12: view

No data available for UniProtKB/Swiss-Prot for KLHL12 Gene

Publications for KLHL12 Gene

  1. The KLHL12-cullin-3 ubiquitin ligase negatively regulates the Wnt- beta-catenin pathway by targeting Dishevelled for degradation. (PMID: 16547521) Angers S. … Moon R.T. (Nat. Cell Biol. 2006) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. hDKIR, a human homologue of the Drosophila kelch protein, involved in a ring-like structure. (PMID: 15383316) Mai A. … Yonehara S. (Exp. Cell Res. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Identification of specific autoantigens in Sjoegren's syndrome by SEREX. (PMID: 16108817) Uchida K. … Kozaki K. (Immunology 2005) 3 4

Products for KLHL12 Gene

Sources for KLHL12 Gene

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