Seroatlas · Human Serome Atlas

KLHL7

Kelch-like protein 7

Also known as: KLHL6, KLHL7_HUMAN, RP42, SBBI26

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8IXQ5
Gene
KLHL7
Ensembl
ENSG00000122550
Chromosome
7
Canonical length
586 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

586 residues, UniProt reviewed canonical sequence.

>Q8IXQ5|KLHL7
     1  MAASGVEKSS KKKTEKKLAA REEAKLLAGF MGVMNNMRKQ KTLCDVILMV QERKIPAHRV
    61  VLAAASHFFN LMFTTNMLES KSFEVELKDA EPDIIEQLVE FAYTARISVN SNNVQSLLDA
   121  ANQYQIEPVK KMCVDFLKEQ VDASNCLGIS VLAECLDCPE LKATADDFIH QHFTEVYKTD
   181  EFLQLDVKRV THLLNQDTLT VRAEDQVYDA AVRWLKYDEP NRQPFMVDIL AKVRFPLISK
   241  NFLSKTVQAE PLIQDNPECL KMVISGMRYH LLSPEDREEL VDGTRPRRKK HDYRIALFGG
   301  SQPQSCRYFN PKDYSWTDIR CPFEKRRDAA CVFWDNVVYI LGGSQLFPIK RMDCYNVVKD
   361  SWYSKLGPPT PRDSLAACAA EGKIYTSGGS EVGNSALYLF ECYDTRTESW HTKPSMLTQR
   421  CSHGMVEANG LIYVCGGSLG NNVSGRVLNS CEVYDPATET WTELCPMIEA RKNHGLVFVK
   481  DKIFAVGGQN GLGGLDNVEY YDIKLNEWKM VSPMPWKGVT VKCAAVGSIV YVLAGFQGVG
   541  RLGHILEYNT ETDKWVANSK VRAFPVTSCL ICVVDTCGAN EETLET

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KLHL7 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)
0.27
Highest tissue expression
48 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 48 nTPM
  • testis: 39 nTPM
  • adrenal gland: 18 nTPM
  • hypothalamus: 15 nTPM
  • retina: 14 nTPM
  • cerebral cortex: 14 nTPM

Single-cell type

  • early spermatids: 758 nCPM
  • late spermatids: 382 nCPM
  • sertoli cells: 323 nCPM
  • cardiomyocytes: 303 nCPM
  • late primary spermatocytes: 296 nCPM
  • oocytes: 249 nCPM

Immune cell

  • eosinophil: 67 nTPM
  • basophil: 45 nTPM
  • intermediate monocyte: 18 nTPM
  • T-reg: 17 nTPM
  • non-classical monocyte: 16 nTPM
  • classical monocyte: 15 nTPM

Brain region

  • cerebellum: 35 nTPM
  • white matter: 31 nTPM
  • thalamus: 28 nTPM
  • cerebral cortex: 28 nTPM
  • hypothalamus: 28 nTPM
  • midbrain: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KLHL7.

Disease | AllUniProt

Conditions KLHL7 is implicated in, by any mechanism.

Disease | GeneticClinVar

46 pathogenic / likely-pathogenic of 443 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on KLHL7 was assayed in.

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)
0.64
gnomAD pLI
0
gnomAD missense Z
3.91
DepMap mean gene effect
0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KLHL7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KLHL7 as an antibody target. Whether an autoantibody or antibody against KLHL7 could matter depends on whether native KLHL7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KLHL7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label KLHL7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KLHL7. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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