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KLHL4 kelch like family member 4 [ Homo sapiens (human) ]

Gene ID: 56062, updated on 23-Nov-2021

Summary

Official Symbol
KLHL4provided by HGNC
Official Full Name
kelch like family member 4provided by HGNC
Primary source
HGNC:HGNC:6355
See related
Ensembl:ENSG00000102271 MIM:300348
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
KHL4; DKELCHL
Summary
This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Biased expression in adrenal (RPKM 14.7), testis (RPKM 4.7) and 4 other tissues See more
Orthologs
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Genomic context

See KLHL4 in Genome Data Viewer
Location:
Xq21.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (87517730..87670050)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (86772805..86925050)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene dachshund family transcription factor 2 Neighboring gene FCF1 pseudogene 9 Neighboring gene COP9 signalosome subunit 8 pseudogene 1 Neighboring gene ribosomal protein SA pseudogene 15 Neighboring gene RPL34 pseudogene 36

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1687

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
 
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
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_012815.1 RefSeqGene

    Range
    5091..157336
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_019117.5NP_061990.2  kelch-like protein 4 isoform 1

    See identical proteins and their annotated locations for NP_061990.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate last exon as compared to variant 2, resulting in a frameshift and use of a different stop codon. The encoded isoform (1) is 2 aa shorter than isoform 2 and has a distinct C-terminus.
    Source sequence(s)
    AF284765, AL121884, BC161675, Z95400
    Consensus CDS
    CCDS14457.1
    UniProtKB/Swiss-Prot
    Q9C0H6
    UniProtKB/TrEMBL
    A5PKX1
    Related
    ENSP00000362211.4, ENST00000373119.9
    Conserved Domains (6) summary
    smart00612
    Location:571617
    Kelch; Kelch domain
    PHA03098
    Location:176698
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:466509
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:172276
    BTB; BTB/POZ domain
    pfam01344
    Location:465510
    Kelch_1; Kelch motif
    pfam07707
    Location:284373
    BACK; BTB And C-terminal Kelch
  2. NM_057162.3NP_476503.1  kelch-like protein 4 isoform 2

    See identical proteins and their annotated locations for NP_476503.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform 2 which is 2 aa longer than isoform 1, and has a distinct C-terminus.
    Source sequence(s)
    AF284766, AL035424, AL121884, DB083610
    Consensus CDS
    CCDS14456.1
    UniProtKB/Swiss-Prot
    Q9C0H6
    Related
    ENSP00000362206.4, ENST00000373114.4
    Conserved Domains (6) summary
    smart00612
    Location:571617
    Kelch; Kelch domain
    PHA03098
    Location:176698
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:466509
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:172276
    BTB; BTB/POZ domain
    pfam01344
    Location:465510
    Kelch_1; Kelch motif
    pfam07707
    Location:284373
    BACK; BTB And C-terminal Kelch

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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    87517730..87670050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_938403.2 RNA Sequence

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