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

    Gene ID: 59349, updated on 8-Aug-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
    NEW
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    Try the new Transcript table

    Genomic context

    See KLHL12 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 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 109.20210514

    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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