KLHL15

Protein identityUniProt · HPA

UniProt accession

Q96M94

Gene

KLHL15

Ensembl

ENSG00000174010

Chromosome

X

Canonical length

604 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Aggresome,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]

Canonical amino-acid sequenceUniProt

604 residues, UniProt reviewed canonical sequence.

>Q96M94|KLHL15
     1  MAGDVEGFCS SIHDTSVSAG FRALYEEGLL LDVTLVIEDH QFQAHKALLA TQSDYFRIMF
    61  TADMRERDQD KIHLKGLTAT GFSHVLQFMY YGTIELSMNT VHEILQAAMY VQLIEVVKFC
   121  CSFLLAKICL ENCAEIMRLL DDFGVNIEGV REKLDTFLLD NFVPLMSRPD FLSYLSFEKL
   181  MSYLDNDHLS RFPEIELYEA VQSWLRHDRR RWRHTDTIIQ NIRFCLMTPT SVFEKVKTSE
   241  FYRYSRQLRY EVDQALNYFQ NVHQQPLLDM KSSRIRSAKP QTTVFRGMIG HSMVNSKILL
   301  LKKPRVWWEL EGPQVPLRPD CLAIVNNFVF LLGGEELGPD GEFHASSKVF RYDPRQNSWL
   361  QMADMSVPRS EFAVGVIGKF IYAVAGRTRD ETFYSTERYD ITNDKWEFVD PYPVNKYGHE
   421  GTVLNNKLFI TGGITSSSTS KQVCVFDPSK EGTIEQRTRR TQVVTNCWEN KSKMNYARCF
   481  HKMISYNGKL YVFGGVCVIL RASFESQGCP STEVYNPETD QWTILASMPI GRSGHGVTVL
   541  DKQIMVLGGL CYNGHYSDSI LTFDPDENKW KEDEYPRMPC KLDGLQVCNL HFPDYVLDEV
   601  RRCN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KLHL15 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

54 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KLHL15.

Disease | AllUniProt

Conditions KLHL15 is implicated in, by any mechanism.

• Intellectual developmental disorder, X-linked 103 (XLID103) MIM:300982

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 145 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, X-linked 103
• Abnormal brain morphology

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.2

gnomAD pLI

0.99

gnomAD missense Z

3.69

DepMap mean gene effect

0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of double-strand break repair via homologous recombination
• nuclear protein quality control by the ubiquitin-proteasome system
• protein ubiquitination
• ubiquitin-dependent protein catabolic process

Molecular functions

• ubiquitin-like ligase-substrate adaptor activity

Cellular components

• Cul3-RING ubiquitin ligase complex
• nucleus

Protein domainsUniProt · Pfam · InterPro

• BTB/POZ domain
• Kelch repeat type 1
• SKP1/BTB/POZ domain superfamily
• BTB/Kelch-associated
• Kelch-type beta-propeller
• BTB-kelch protein
• BTB/POZ domain
• Kelch motif
• BTB And C-terminal Kelch
• Kelch-like protein 15, BTB/POZ domain
• Kelch-like protein 15, BACK domain

KeywordsUniProt

• Intellectual disability
• Kelch repeat
• Nucleus
• Repeat
• Ubl conjugation pathway

InteractionsUniProt · HPA

Protein binding partners of KLHL15 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CUL3
• PPP2R5B
• MARCHF6-DT
• RBBP8
• COPS6