2. Gene
  3. KLHL12 - kelch like family member 12 Gene

KLHL12 - kelch like family member 12 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

KLHL12 Protein Structure

BTB

BTB: BTB/POZ domain (23 - 129)

BACK

BACK: BTB And C-terminal Kelch (135 - 236)

Kelch_1

Kelch_1: Kelch motif (281 - 314)

Kelch_1

Kelch_1: Kelch motif (319 - 366)

Kelch_1

Kelch_1: Kelch motif (369 - 412)

Kelch_1

Kelch_1: Kelch motif (415 - 459)

Kelch_1

Kelch_1: Kelch motif (463 - 506)

Kelch_1

Kelch_1: Kelch motif (509 - 553)

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  • 568 a.a.
Protein Preferred Names Protein Names

kelch-like protein 12

CUL3-interacting protein 1

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