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KLHL3 kelch like family member 3 [ Homo sapiens (human) ]

Gene ID: 26249, updated on 23-Nov-2021

Summary

Official Symbol
KLHL3provided by HGNC
Official Full Name
kelch like family member 3provided by HGNC
Primary source
HGNC:HGNC:6354
See related
Ensembl:ENSG00000146021 MIM:605775
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
PHA2D
Summary
This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
Expression
Broad expression in thyroid (RPKM 5.9), heart (RPKM 4.0) and 23 other tissues See more
Orthologs
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Genomic context

See KLHL3 in Genome Data Viewer
Location:
5q31.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (137617500..137736089, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (136953189..137071778, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 193 Neighboring gene SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 Neighboring gene uncharacterized LOC105379192 Neighboring gene VISTA enhancer hs2181 Neighboring gene microRNA 874 Neighboring gene uncharacterized LOC107986369 Neighboring gene heterogeneous nuclear ribonucleoprotein A0

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40871, KIAA1129, MGC44594

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables cullin family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables structural molecule activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in distal tubule morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein K48-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination TAS
Traceable Author Statement
more info
PubMed 
involved_in renal sodium ion absorption IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in renal sodium ion absorption IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in selective autophagy TAS
Traceable Author Statement
more info
PubMed 
involved_in ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of Cul3-RING ubiquitin ligase complex TAS
Traceable Author Statement
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_032569.1 RefSeqGene

    Range
    5002..123591
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257194.1NP_001244123.1  kelch-like protein 3 isoform 2

    See identical proteins and their annotated locations for NP_001244123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a 5' coding exon and has an alternate 5' exon which results in the use of a downstream in-frame start codon, compared to variant 1. These differences result in a protein (isoform 2; also known as KLHL3b) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AB032955, AC106775, AF208070
    Consensus CDS
    CCDS58970.1
    UniProtKB/Swiss-Prot
    Q9UH77
    Related
    ENSP00000422099.1, ENST00000508657.5
    Conserved Domains (4) summary
    PHA03098
    Location:15534
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:399444
    Kelch; KELCH repeat [structural motif]
    cd18339
    Location:1117
    BTB_POZ_KLHL3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 3 (KLHL3)
    cd18513
    Location:115244
    BACK_KLHL3; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 3 (KLHL3)
  2. NM_001257195.2NP_001244124.1  kelch-like protein 3 isoform 3

    See identical proteins and their annotated locations for NP_001244124.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 5' coding exons and has an alternate 5' exon which results in the use of a downstream in-frame start codon, compared to variant 1. These differences result in a protein (isoform 3; also known as KLHL3c) with a shorter N-terminus, compared to isoform 1. This isoform is predicted to lack the protein binding BTB domain that is present in isoform 1.
    Source sequence(s)
    AB032955, AC092318, AC106775, AF208069
    Consensus CDS
    CCDS58969.1
    UniProtKB/Swiss-Prot
    Q9UH77
    Related
    ENSP00000424828.1, ENST00000506491.5
    Conserved Domains (3) summary
    PHA03098
    Location:15484
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:349394
    Kelch; KELCH repeat [structural motif]
    cd18513
    Location:65194
    BACK_KLHL3; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 3 (KLHL3)
  3. NM_017415.3NP_059111.2  kelch-like protein 3 isoform 1

    See identical proteins and their annotated locations for NP_059111.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1; also known as KLHL3a).
    Source sequence(s)
    AB032955, AC106775, DA083147
    Consensus CDS
    CCDS4192.1
    UniProtKB/Swiss-Prot
    Q9UH77
    Related
    ENSP00000312397.4, ENST00000309755.9
    Conserved Domains (4) summary
    PHA03098
    Location:47566
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:431476
    Kelch; KELCH repeat [structural motif]
    cd18339
    Location:29149
    BTB_POZ_KLHL3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 3 (KLHL3)
    cd18513
    Location:147276
    BACK_KLHL3; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 3 (KLHL3)

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    137617500..137736089 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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