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KLHDC3 kelch domain containing 3 [ Homo sapiens (human) ]

Gene ID: 116138, updated on 29-Mar-2020

Summary

Official Symbol
KLHDC3provided by HGNC
Official Full Name
kelch domain containing 3provided by HGNC
Primary source
HGNC:HGNC:20704
See related
Ensembl:ENSG00000124702 MIM:611248
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
PEAS; dJ20C7.3
Summary
The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]
Expression
Broad expression in testis (RPKM 98.0), brain (RPKM 70.2) and 25 other tissues See more
Orthologs

Genomic context

See KLHDC3 in Genome Data Viewer
Location:
6p21.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (43014249..43021294)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42981841..42989036)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CNPY3-GNMT readthrough Neighboring gene glycine N-methyltransferase Neighboring gene peroxisomal biogenesis factor 6 Neighboring gene protein phosphatase 2 regulatory subunit B'delta Neighboring gene male-enhanced antigen 1 Neighboring gene ribosomal RNA processing 36 Neighboring gene RNA, 7SL, cytoplasmic 403, pseudogene

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
reciprocal meiotic recombination NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
kelch domain-containing protein 3
Names
testis intracellular mediator protein

NCBI Reference Sequences (RefSeq)

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_057161.4NP_476502.1  kelch domain-containing protein 3

    See identical proteins and their annotated locations for NP_476502.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    BC001789, DC395338
    Consensus CDS
    CCDS4880.1
    UniProtKB/Swiss-Prot
    Q9BQ90
    Related
    ENSP00000313995.4, ENST00000326974.9
    Conserved Domains (3) summary
    sd00038
    Location:128173
    Kelch; KELCH repeat [structural motif]
    pfam13964
    Location:1461
    Kelch_6; Kelch motif
    cl26061
    Location:74318
    PLN02193; nitrile-specifier protein

RNA

  1. NR_040101.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal exon compared to variant 1 that results in premature translation termination. This variant is represented as non-coding because the use of the 5'-most expected translational start codon used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB055925, BC041793, CN269587
    Related
    ENST00000244670.12

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    43014249..43021294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446320.1XP_024302088.1  kelch domain-containing protein 3 isoform X1

    Conserved Domains (2) summary
    sd00038
    Location:141186
    Kelch; KELCH repeat [structural motif]
    cl26061
    Location:63331
    PLN02193; nitrile-specifier protein

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001242872.1: Suppressed sequence

    Description
    NM_001242872.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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