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KLHL12 kelch like family member 12 [ Homo sapiens (human) ]

Gene ID: 59349, updated on 26-May-2016
Official Symbol
KLHL12provided by HGNC
Official Full Name
kelch like family member 12provided by HGNC
Primary source
HGNC:HGNC:19360
See related
Ensembl:ENSG00000117153 HPRD:13925; MIM:614522; Vega:OTTHUMG00000041385
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DKIR; C3IP1
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]
Orthologs
Location:
1q32.1
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (202891096..202928644, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202860230..202897766, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene actin pseudogene Neighboring gene RAB interacting factor Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 59 Neighboring gene adiponectin receptor 1 Neighboring gene cytochrome b5 reductase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Canonical Wnt signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Canonical Wnt signaling pathway, organism-specific biosystem
    Canonical Wnt signaling pathway
  • Degradation of DVL, organism-specific biosystem (from REACTOME)
    Degradation of DVL, organism-specific biosystemDVL protein levels are regulated by both proteasomal and lysosomal degradation (reviewed in Gao and Chen, 2010). The E3 ligases HECF1, ITCH and KLHL12:CUL3 have all been shown to contribute to the po...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ27152

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
COPII vesicle coating IMP
Inferred from Mutant Phenotype
more info
PubMed 
ER to Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
protein monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
ER to Golgi transport vesicle IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
microtubule organizing center IDA
Inferred from Direct Assay
more info
 
Preferred Names
kelch-like protein 12
Names
CUL3-interacting protein 1
DKIR homolog
kelch-like family member 12
kelch-like protein C3IP1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001303051.1NP_001289980.1  kelch-like protein 12 isoform 1

    See identical proteins and their annotated locations for NP_001289980.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK024412, AK027656, AK301791, DC399782, HY269282
    UniProtKB/Swiss-Prot
    Q53G59
    UniProtKB/TrEMBL
    Q9H7R2
    Conserved Domains (5) summary
    smart00612
    Location:512558
    Kelch; Kelch domain
    PHA03098
    Location:84539
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:61168
    BTB; BTB/POZ domain
    cd14735
    Location:168226
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:454497
    Kelch; KELCH repeat [structural motif]
  2. NM_001303109.1NP_001290038.1  kelch-like protein 12 isoform 3

    See identical proteins and their annotated locations for NP_001290038.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' terminal exon, resulting in a distinct 5' UTR and an in-frame downstream translational start site, and lacks two alternate internal exons in the 3' coding region, compared to variant 1. This results in isoform 3, which is shorter compared to isoform 1.
    Source sequence(s)
    AF306689, AK024412, AK027656, AK301791, DB461868, HY269282
    UniProtKB/Swiss-Prot
    Q53G59
    UniProtKB/TrEMBL
    Q9H7R2
    Conserved Domains (4) summary
    smart00612
    Location:373419
    Kelch; Kelch domain
    pfam00651
    Location:23130
    BTB; BTB/POZ domain
    cd14735
    Location:130188
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:315358
    Kelch; KELCH repeat [structural motif]
  3. NM_021633.3NP_067646.1  kelch-like protein 12 isoform 2

    See identical proteins and their annotated locations for NP_067646.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in a distinct 5' UTR and an in-frame downstream translational start site, compared to variant 1. This results in isoform 2, which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK024412, AK027656, AK301791, DB461868, HY269282
    Consensus CDS
    CCDS1429.1
    UniProtKB/Swiss-Prot
    Q53G59
    UniProtKB/TrEMBL
    Q9H7R2
    Related
    ENSP00000356230, OTTHUMP00000038799, ENST00000367261, OTTHUMT00000099151
    Conserved Domains (5) summary
    smart00612
    Location:474520
    Kelch; Kelch domain
    PHA03098
    Location:46501
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:23130
    BTB; BTB/POZ domain
    cd14735
    Location:130188
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:416459
    Kelch; KELCH repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    202891096..202928644 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509837.1XP_011508139.1  

    Conserved Domains (4) summary
    smart00612
    Location:428474
    Kelch; Kelch domain
    pfam00651
    Location:78185
    BTB; BTB/POZ domain
    cd14735
    Location:185243
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:370413
    Kelch; KELCH repeat [structural motif]
  2. XM_011509836.1XP_011508138.1  

    Conserved Domains (5) summary
    smart00612
    Location:436481
    Kelch; Kelch domain
    pfam00651
    Location:78185
    BTB; BTB/POZ domain
    pfam01344
    Location:470514
    Kelch_1; Kelch motif
    cd14735
    Location:185243
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:374420
    Kelch; KELCH repeat [structural motif]
  3. XM_011509835.1XP_011508137.1  

    See identical proteins and their annotated locations for XP_011508137.1

    Conserved Domains (5) summary
    smart00612
    Location:529575
    Kelch; Kelch domain
    PHA03098
    Location:101556
    PHA03098; kelch-like protein; Provisional
    pfam00651
    Location:78185
    BTB; BTB/POZ domain
    cd14735
    Location:185243
    BACK_Kelch; BTB-And-C-terminal-Kelch (BACK) domain of Kelch-like proteins
    sd00038
    Location:471514
    Kelch; KELCH repeat [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    204282473..204320006 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)