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Gene Gene information from NCBI Gene database.
Entrez ID 59349
Gene name Kelch like family member 12
Gene symbol KLHL12
Synonyms (NCBI Gene)
C3IP1DKIR
Chromosome 1
Chromosome location 1q32.1
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 su
miRNA miRNA information provided by mirtarbase database.
437 Show/Hide all (437)
miRTarBase ID miRNA Experiments Reference
MIRT002506 hsa-miR-373-3p Microarray 15685193
MIRT019284 hsa-miR-148b-3p Microarray 17612493
MIRT002506 hsa-miR-373-3p Microarray;Other 15685193
MIRT050001 hsa-miR-28-5p CLASH 23622248
MIRT044028 hsa-miR-365a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27 Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 16713569, 17543862, 21145461, 21516116, 25416956, 27107012, 27716508, 30190310, 32296183, 32814053, 33961781, 34591642, 38270169
GO:0005737 Component Cytoplasm IBA
GO:0005829 Component Cytosol TAS
GO:0006513 Process Protein monoubiquitination IDA 22358839, 27716508
GO:0006888 Process Endoplasmic reticulum to Golgi vesicle-mediated transport IDA 22358839
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614522 19360 ENSG00000117153
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53G59
Protein name Kelch-like protein 12 (CUL3-interacting protein 1) (DKIR homolog) (hDKIR)
Protein 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 (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is involved in ER-Golgi
PDB 2VPJ , 6TTK , 6V7O , 8OIO , 8RBH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 23 → 130 BTB/POZ domain Domain
PF01344 Kelch_1 462 → 507 Kelch motif Repeat
PF01344 Kelch_1 509 → 554 Kelch motif Repeat
PF01344 Kelch_1 415 → 460 Kelch motif Repeat
PF01344 Kelch_1 318 → 366 Kelch motif Repeat
PF01344 Kelch_1 368 → 413 Kelch motif Repeat
PF01344 Kelch_1 279 → 315 Kelch motif Repeat
PF07707 BACK 135 → 237 BTB And C-terminal Kelch Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in testis and at lower levels in the submandibular salivary gland. {ECO:0000269|PubMed:15383316, ECO:0000269|PubMed:16108817}.
Sequence
Sequence length 568
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Degradation of DVL