Seroatlas · Human Serome Atlas

KLHL17

Kelch-like protein 17

Also known as: KLH17_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6TDP4
Gene: KLHL17
Ensembl: ENSG00000187961
Chromosome: 1
Canonical length: 642 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]

Canonical amino-acid sequenceUniProt

642 residues, UniProt reviewed canonical sequence.

>Q6TDP4|KLHL17
     1  MQPRSERPAG RTQSPEHGSP GPGPEAPPPP PPQPPAPEAE RTRPRQARPA APMEGAVQLL
    61  SREGHSVAHN SKRHYHDAFV AMSRMRQRGL LCDIVLHVAA KEIRAHKVVL ASCSPYFHAM
   121  FTNEMSESRQ THVTLHDIDP QALDQLVQFA YTAEIVVGEG NVQTLLPAAS LLQLNGVRDA
   181  CCKFLLSQLD PSNCLGIRGF ADAHSCSDLL KAAHRYVLQH FVDVAKTEEF MLLPLKQVLE
   241  LVSSDSLNVP SEEEVYRAVL SWVKHDVDAR RQHVPRLMKC VRLPLLSRDF LLGHVDAESL
   301  VRHHPDCKDL LIEALKFHLL PEQRGVLGTS RTRPRRCEGA GPVLFAVGGG SLFAIHGDCE
   361  AYDTRTDRWH VVASMSTRRA RVGVAAVGNR LYAVGGYDGT SDLATVESYD PVTNTWQPEV
   421  SMGTRRSCLG VAALHGLLYS AGGYDGASCL NSAERYDPLT GTWTSVAAMS TRRRYVRVAT
   481  LDGNLYAVGG YDSSSHLATV EKYEPQVNVW SPVASMLSRR SSAGVAVLEG ALYVAGGNDG
   541  TSCLNSVERY SPKAGAWESV APMNIRRSTH DLVAMDGWLY AVGGNDGSSS LNSIEKYNPR
   601  TNKWVAASCM FTRRSSVGVA VLELLNFPPP SSPTLSVSST SL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KLHL17 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: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 12 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 12 nTPM
testis: 10 nTPM
esophagus: 9.3 nTPM
spleen: 8.9 nTPM
pituitary gland: 8 nTPM
kidney: 7.5 nTPM

Single-cell type

oocytes: 9.2 nCPM
undifferentiated spermatogonia: 8.1 nCPM
esophageal apical cells: 6.7 nCPM
retinal amacrine cells: 6.3 nCPM
astrocytes: 5.6 nCPM
differentiating spermatogonia: 5.5 nCPM

Immune cell

classical monocyte: 0.1 nTPM
gdT-cell: 0.1 nTPM
plasmacytoid DC: 0.1 nTPM
basophil: 0 nTPM
eosinophil: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

cerebral cortex: 9.6 nTPM
cerebellum: 6.8 nTPM
medulla oblongata: 6.1 nTPM
thalamus: 6.1 nTPM
pons: 6 nTPM
hippocampal formation: 5.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KLHL17.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 221 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Esophageal atresia/tracheoesophageal fistula

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): 1.26
gnomAD pLI: 0
gnomAD missense Z: -0.57
DepMap mean gene effect: 0.08
DepMap dependency class: none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KLHL17 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 KLHL17 as an antibody target. Whether an autoantibody or antibody against KLHL17 could matter depends on whether native KLHL17 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KLHL17 is annotated as secreted, so native KLHL17 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label KLHL17 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...