KLHL12 - kelch like family member 12 Gene

Homo sapiens

Also known as DKIR; C3IP1

Gene ID: 59349 | Gene type: protein coding

About KLHL12

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:202,891,120-202,928,599 (from NCBI)

This gene has 3 transcripts (splice variants), 200 orthologues and 54 paralogues. Ubiquitous expression in testis (RPKM 23.4), brain (RPKM 11.5) and 25 other tissues.

Summary

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]

KLHL12 Products(3)

mRNA	Protein	Name
NM_001303051.2	NP_001289980.1	kelch-like protein 12 isoform 1
NM_001303109.2	NP_001290038.1	kelch-like protein 12 isoform 3
NM_021633.4	NP_067646.1	kelch-like protein 12 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in COPII vesicle coating	IMP IMP: Inferred from mutant phenotype	22358839	GOA
involved in Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	20970343	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IDA IDA: Inferred from direct assay	22358839	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	27716508	GOA
involved in neural crest cell development	IMP IMP: Inferred from mutant phenotype	27716508	GOA
involved in neural crest formation	IMP IMP: Inferred from mutant phenotype	27716508	GOA
involved in protein monoubiquitination	IDA IDA: Inferred from direct assay	22358839	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of COPII vesicle coat	IDA IDA: Inferred from direct assay	27716508	GOA
located in COPII-coated ER to Golgi transport vesicle	IDA IDA: Inferred from direct assay	22358839	GOA
part of Cul3-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	22358839	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KLHL12 Protein Structure

BTB

BACK

Kelch_1

0
100
200
300
400
500
568 a.a.

Protein Preferred Names

Protein Names

kelch-like protein 12

CUL3-interacting protein 1

KLHL12 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KLHL12	Q53G59	ZBP1	Homo sapiens	A2RRL9	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	32296183
Intra	KLHL12	Q53G59	UBE2I	Homo sapiens	Q7KZS0	Validated Y2H	32296183
Intra	KLHL12	Q53G59	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	32296183
Intra	KLHL12	Q53G59	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	DVL1	Homo sapiens	Q86TH3	Validated Y2H	32296183
Intra	KLHL12	Q53G59	DVL1	Homo sapiens	Q86TH3	Y2H Array	32296183
Intra	KLHL12	Q53G59	DVL1	Homo sapiens	Q86TH3	Y2H Prey Pooling	32296183
Intra	KLHL12	Q53G59	RPP25L	Homo sapiens	Q8N5L8	Validated Y2H	25416956
Intra	KLHL12	Q53G59	RPP25L	Homo sapiens	Q8N5L8	Validated Y2H	32296183
Intra	KLHL12	Q53G59	RPP25L	Homo sapiens	Q8N5L8	Y2H Array	25416956
Intra	KLHL12	Q53G59	INMT	Homo sapiens	O95050	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	KLHL3	Homo sapiens	Q8N4I8	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	KLHL3	Homo sapiens	Q8N4I8	Y2H Array	25416956
Intra	KLHL12	Q53G59	CARD10	Homo sapiens	Q17RA1	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	CARD10	Homo sapiens	Q17RA1	Validated Y2H	25416956
Intra	KLHL12	Q53G59	VEGFB	Homo sapiens	Q7LAP4	Y2H Array	25416956
Intra	KLHL12	Q53G59	TBC1D10C	Homo sapiens	Q8IV04	Validated Y2H	32296183
Intra	KLHL12	Q53G59	TBC1D10C	Homo sapiens	Q8IV04	Y2H Array	25416956
Intra	KLHL12	Q53G59	TBC1D10C	Homo sapiens	Q8IV04	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	PNKP	Homo sapiens	Q96T60	Validated Y2H	32296183
Intra	KLHL12	Q53G59	TTBK2	Homo sapiens	Q6IQ55	Validated Y2H	32296183
Intra	KLHL12	Q53G59	TTBK2	Homo sapiens	Q6IQ55	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	TTBK2	Homo sapiens	Q6IQ55	Validated Y2H	25416956
Intra	KLHL12	Q53G59	LNPK	Homo sapiens	Q9C0E8-2	Validated Y2H	32296183
Intra	KLHL12	Q53G59	LNPK	Homo sapiens	Q9C0E8-2	Y2H Array	32296183
Intra	KLHL12	Q53G59	LNPK	Homo sapiens	Q9C0E8-2	Y2H Prey Pooling	32296183
Intra	KLHL12	Q53G59	TCEANC	Homo sapiens	Q8N8B7-2	Validated Y2H	32296183
Intra	KLHL12	Q53G59	CCBE1	Homo sapiens	Q6UXH8-3	Validated Y2H	32296183
Intra	KLHL12	Q53G59	SNX20	Homo sapiens	Q7Z614-3	Validated Y2H	32296183
Intra	KLHL12	Q53G59	PLEKHA4	Homo sapiens	Q9H4M7-2	Validated Y2H	32296183
Intra	KLHL12	Q53G59	ARRDC1	Homo sapiens	Q8N5I2	Validated Y2H	32296183
Intra	KLHL12	Q53G59	RNF4	Homo sapiens	P78317	Y2H Prey Pooling	32296183
Intra	KLHL12	Q53G59	RNF4	Homo sapiens	P78317	Y2H Array	32296183
Intra	KLHL12	Q53G59	KLHL24	Homo sapiens	Q6TFL4	Anti Tag CoIP	30190310
Intra	KLHL12	Q53G59	KLHL24	Homo sapiens	Q6TFL4	Y2H Prey Pooling	32296183
Intra	KLHL12	Q53G59	KLHL24	Homo sapiens	Q6TFL4	Y2H Array	32296183
Intra	KLHL12	Q53G59	KLHL24	Homo sapiens	Q6TFL4	Validated Y2H	32296183
Intra	KLHL12	Q53G59	ZBTB4	Homo sapiens	Q9P1Z0	Validated Y2H	32296183
Intra	KLHL12	Q53G59	C1QTNF2	Homo sapiens	Q9BXJ5	Validated Y2H	32296183
Intra	KLHL12	Q53G59	C1QTNF2	Homo sapiens	Q9BXJ5	Validated Y2H	25416956
Intra	KLHL12	Q53G59	BAG6	Homo sapiens	P46379	Y2H Array	25416956
Intra	KLHL12	Q53G59	CCBE1	Homo sapiens	Q6UXH8	Validated Y2H	25416956
Intra	KLHL12	Q53G59	CCBE1	Homo sapiens	Q6UXH8	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	CCBE1	Homo sapiens	Q6UXH8	Y2H Array	25416956
Intra	KLHL12	Q53G59	MED25	Homo sapiens	Q71SY5	Validated Y2H	32296183
Intra	KLHL12	Q53G59	CUL3	Homo sapiens	Q13618	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	CUL3	Homo sapiens	Q13618	Anti Tag CoIP	30190310
Intra	KLHL12	Q53G59	PDGFRB	Homo sapiens	P09619	Validated Y2H	25416956
Intra	KLHL12	Q53G59	PDGFRB	Homo sapiens	P09619	Y2H Array	25416956
Intra	KLHL12	Q53G59	FAM90A1	Homo sapiens	Q86YD7	Validated Y2H	32296183
Intra	KLHL12	Q53G59	MPP1	Homo sapiens	Q00013	Validated Y2H	25416956
Intra	KLHL12	Q53G59	MPP1	Homo sapiens	Q00013	Y2H Array	25416956
Intra	KLHL12	Q53G59	MPP1	Homo sapiens	Q00013	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	SYNE4	Homo sapiens	Q8N205	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	MRPL10	Homo sapiens	Q7Z7H8	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	MRPL10	Homo sapiens	Q7Z7H8	Y2H Array	25416956
Intra	KLHL12	Q53G59	PEF1	Homo sapiens	Q9UBV8	Anti Tag CoIP	30190310
Intra	KLHL12	Q53G59	PEF1	Homo sapiens	Q9UBV8	Validated Y2H	25416956
Intra	KLHL12	Q53G59	PEF1	Homo sapiens	Q9UBV8	Validated Y2H	32296183
Intra	KLHL12	Q53G59	PEF1	Homo sapiens	Q9UBV8	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	SDCBP	Homo sapiens	O00560	Y2H Array	25416956
Intra	KLHL12	Q53G59	SDCBP	Homo sapiens	O00560	Validated Y2H	27107012
Intra	KLHL12	Q53G59	DVL3	Homo sapiens	Q92997	Validated Y2H	32296183
Intra	KLHL12	Q53G59	LNX1	Homo sapiens	Q8TBB1	Y2H Pooling	16189514
Intra	KLHL12	Q53G59	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	KLHL12	Q53G59	PRR13	Homo sapiens	Q9NZ81	Validated Y2H	25416956
Intra	KLHL12	Q53G59	PRR13	Homo sapiens	Q9NZ81	Validated Y2H	32296183
Intra	KLHL12	Q53G59	PRR13	Homo sapiens	Q9NZ81	Y2H Array	25416956
Intra	KLHL12	Q53G59	KLHL12	Homo sapiens	Q53G59	Y2H Pooling	16189514
Intra	KLHL12	Q53G59	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	KLHL12	Q53G59	SNX20	Homo sapiens	Q7Z614	Y2H Pooling	16189514
Intra	KLHL12	Q53G59	SNX20	Homo sapiens	Q7Z614	Y2H Array	25416956
Intra	KLHL12	Q53G59	KLHL2	Homo sapiens	O95198	Y2H	21516116
Intra	KLHL12	Q53G59	KLHL2	Homo sapiens	O95198	Anti Tag CoIP	30190310
Intra	KLHL12	Q53G59	GLYCTK	Homo sapiens	Q8IVS8	Y2H Array	25416956
Intra	KLHL12	Q53G59	GLYCTK	Homo sapiens	Q8IVS8	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	GLYCTK	Homo sapiens	Q8IVS8	Validated Y2H	25416956
Intra	KLHL12	Q53G59	KLHL3	Homo sapiens	Q9UH77	Validated Y2H	32296183
Intra	KLHL12	Q53G59	FBXL17	Homo sapiens	Q9UF56	Anti Tag CoIP	30190310
Intra	KLHL12	Q53G59	FBXL17	Homo sapiens	Q9UF56	Pull Down	30190310
Intra	KLHL12	Q53G59	ATXN1	Homo sapiens	P54253	Y2H Array	16713569
Intra	KLHL12	Q53G59	FLNA	Homo sapiens	P21333-2	Y2H Prey Pooling	25416956
Intra	KLHL12	Q53G59	FLNA	Homo sapiens	P21333-2	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Craniolenticulosutural Dysplasia

Boyadjiev-Jabs Syndrome	CLSD
Cranio-Lenticulo-Sutural Dysplasia	Cranio-Lenticulo-Sutural Dysplasia, Clsd

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07356	KLHL12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	KLHL12	VGNC	VGNC:63142
Bos taurus	KLHL12	VGNC	VGNC:54442
Macaca mulatta	KLHL12	VGNC	VGNC:97782
Rattus norvegicus	KLHL12	RGD	RGD:628717
Mus musculus	KLHL12	MGD	MGI:2385619
Canis familiaris	KLHL12	VGNC	VGNC:42448

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