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

Gene ID: 59349, updated on 23-Nov-2021

Summary

Official Symbol
KLHL12provided by HGNC
Official Full Name
kelch like family member 12provided by HGNC
Primary source
HGNC:HGNC:19360
See related
Ensembl:ENSG00000117153 MIM:614522
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]
Expression
Ubiquitous expression in testis (RPKM 23.4), brain (RPKM 11.5) and 25 other tissues See more
Orthologs
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Genomic context

See KLHL12 in Genome Data Viewer
Location:
1q32.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (202891116..202928628, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202860248..202897727, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene actin gamma 1 pseudogene 25 Neighboring gene RAB interacting factor Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 59 Neighboring gene Sharpr-MPRA regulatory region 11793 Neighboring gene adiponectin receptor 1 Neighboring gene cytochrome b5 reductase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ27152

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of COPII vesicle coat IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in COPII-coated ER to Golgi transport vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in COPII-coated ER to Golgi transport vesicle IDA
Inferred from Direct Assay
more info
PubMed 
part_of Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
kelch-like protein 12
Names
CUL3-interacting protein 1
DKIR homolog
kelch-like protein C3IP1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001303051.2NP_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
    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
    sd00038
    Location:454497
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:61164
    BTB; BTB/POZ domain
    pfam07707
    Location:173274
    BACK; BTB And C-terminal Kelch
  2. NM_001303109.2NP_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
    UniProtKB/Swiss-Prot
    Q53G59
    UniProtKB/TrEMBL
    Q9H7R2
    Conserved Domains (5) summary
    smart00612
    Location:373419
    Kelch; Kelch domain
    PLN02193
    Location:317461
    PLN02193; nitrile-specifier protein
    sd00038
    Location:315358
    Kelch; KELCH repeat [structural motif]
    cd18242
    Location:12135
    BTB_POZ_KLHL12_C3IP1_DKIR; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 12 (KLHL12)
    cd18452
    Location:130265
    BACK_KLHL12; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 12 (KLHL12)
  3. NM_021633.4NP_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
    Consensus CDS
    CCDS1429.1
    UniProtKB/Swiss-Prot
    Q53G59
    UniProtKB/TrEMBL
    Q9H7R2
    Related
    ENSP00000356230.3, ENST00000367261.8
    Conserved Domains (5) summary
    smart00612
    Location:521565
    Kelch; Kelch domain
    PHA03098
    Location:46501
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:416459
    Kelch; KELCH repeat [structural motif]
    cd18242
    Location:12135
    BTB_POZ_KLHL12_C3IP1_DKIR; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 12 (KLHL12)
    cd18452
    Location:130265
    BACK_KLHL12; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 12 (KLHL12)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    202891116..202928628 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509837.2XP_011508139.1  kelch-like protein 12 isoform X3

    Conserved Domains (5) summary
    smart00612
    Location:428474
    Kelch; Kelch domain
    smart00225
    Location:89185
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:370413
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:78181
    BTB; BTB/POZ domain
    pfam07707
    Location:190291
    BACK; BTB And C-terminal Kelch
  2. XM_011509836.2XP_011508138.1  kelch-like protein 12 isoform X2

    Conserved Domains (6) summary
    smart00612
    Location:436481
    Kelch; Kelch domain
    smart00225
    Location:89185
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:374420
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:78181
    BTB; BTB/POZ domain
    pfam01344
    Location:470514
    Kelch_1; Kelch motif
    pfam07707
    Location:190291
    BACK; BTB And C-terminal Kelch
  3. XM_011509835.2XP_011508137.1  kelch-like protein 12 isoform X1

    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
    sd00038
    Location:471514
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:78181
    BTB; BTB/POZ domain
    pfam07707
    Location:190291
    BACK; BTB And C-terminal Kelch
  4. XM_017001995.2XP_016857484.1  kelch-like protein 12 isoform X4

    Conserved Domains (6) summary
    smart00612
    Location:381426
    Kelch; Kelch domain
    smart00225
    Location:34130
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:319365
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:23126
    BTB; BTB/POZ domain
    pfam01344
    Location:415459
    Kelch_1; Kelch motif
    pfam07707
    Location:135236
    BACK; BTB And C-terminal Kelch
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