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KLHL40 kelch like family member 40 [ Homo sapiens (human) ]

Gene ID: 131377, updated on 5-Aug-2018

Summary

Official Symbol
KLHL40provided by HGNC
Official Full Name
kelch like family member 40provided by HGNC
Primary source
HGNC:HGNC:30372
See related
Ensembl:ENSG00000157119 MIM:615340; Vega:OTTHUMG00000133045
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NEM8; SRYP; SYRP; KBTBD5
Summary
This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
Expression
Biased expression in prostate (RPKM 4.0), esophagus (RPKM 2.3) and 2 other tissues See more
Orthologs

Genomic context

See KLHL40 in Genome Data Viewer
Location:
3p22.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (42685519..42692446)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42727011..42733938)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928323 Neighboring gene zinc finger and BTB domain containing 47 Neighboring gene RNA, 7SL, cytoplasmic 567, pseudogene Neighboring gene hedgehog acyltransferase like Neighboring gene HHATL antisense RNA 1 Neighboring gene coiled-coil domain containing 13 Neighboring gene CCDC13 antisense RNA 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32015, MGC125350

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle fiber development ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle fiber differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
A band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Cul3-RING ubiquitin ligase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
I band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
kelch-like protein 40
Names
kelch repeat and BTB (POZ) domain containing 5
kelch repeat and BTB domain-containing protein 5
nemaline myopathy type 8
sarcosynapsin

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.

Genomic

  1. NG_033035.1 RefSeqGene

    Range
    5001..11928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152393.3NP_689606.2  kelch-like protein 40

    See identical proteins and their annotated locations for NP_689606.2

    Status: VALIDATED

    Source sequence(s)
    AI274020, AK291294, AW445105, AY177390
    Consensus CDS
    CCDS2703.1
    UniProtKB/Swiss-Prot
    Q2TBA0
    UniProtKB/TrEMBL
    A8K5H9
    Related
    ENSP00000287777.4, OTTHUMP00000164040, ENST00000287777.4, OTTHUMT00000256651
    Conserved Domains (6) summary
    smart00612
    Location:463510
    Kelch; Kelch domain
    PHA03098
    Location:47551
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:402448
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:23125
    BTB; BTB/POZ domain
    pfam01344
    Location:499537
    Kelch_1; Kelch motif
    pfam07707
    Location:133239
    BACK; BTB And C-terminal Kelch

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    42685519..42692446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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