KLHL1
Kelch-like protein 1
Also known as: FLJ30047, KIAA1490, KLHL1_HUMAN, MRP2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NR64
- Gene
- KLHL1
- Ensembl
- ENSG00000150361
- Chromosome
- 13
- Canonical length
- 748 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]
Canonical amino-acid sequenceUniProt
748 residues, UniProt reviewed canonical sequence.
>Q9NR64|KLHL1
1 MSGSGRKDFD VKHILRLRWK LFSHPSPSTG GPAGGGCLQQ DGSGSFEHWG PSQSRLLKSQ
61 ERSGVSTFWK KPSSSSSSSS SPSSSSSSFN PLNGTLLPVA TRLQQGAPGQ GTQQPARTLF
121 YVESLEEEVV PGMDFPGPHE KGLVLQELKV EPDNSSQATG EGCGHRLSST GHSMTPQSDL
181 DSSSSEEFYQ AVHHAEQTFR KMESYLKQQQ LCDVILIVGN RKIPAHRLVL SSVSDYFAAM
241 FTSDVCEAKQ EEIKMEGIDP NALWDLVQFA YTGCLELKED TIENLLAAAC LLQLPQVVEV
301 CCHFLMKLLH PSNCLGIRAF ADAQGCIELM KVAHSYTMEN IMEVIRNQEF LLLPAEELHK
361 LLASDDVNVP DEETIFHALM MWVKYDMQSR CNDLSMLLAF IRLPLLPPQI LADLENHALF
421 KNDLECQKLI LEAMKYHLLP ERRTLMQSPR TKPRKSTVGT LYAVGGMDNN KGATTIEKYD
481 LRTNLWIQAG MMNGRRLQFG VAVIDDKLFV IGGRDGLKTL NTVECYNPKT KTWTVLPPMS
541 THRHGLGVTV LEGPIYAVGG HDGWSYLNTV ERWDPQSQQW TFVASMSIAR STVGVAALNG
601 KLYSVGGRDG SSCLSSMEYY DPHTNKWNMC APMCKRRGGV GVATCDGFLY AVGGHDAPAS
661 NHCSRLLDYV ERYDPKTDTW TMVAPLSMPR DAVGVCLLGD RLYAVGGYDG QTYLNTMESY
721 DPQTNEWTQM ASLNIGRAGA CVVVIKQPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KLHL1 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)
- 0.36
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- midbrain: 12 nTPM
- hypothalamus: 5.4 nTPM
- cerebellum: 1.6 nTPM
- retina: 1.3 nTPM
- basal ganglia: 1.2 nTPM
- cerebral cortex: 1.1 nTPM
Single-cell type
- corticotrophs: 511 nCPM
- oligodendrocyte progenitor cells: 360 nCPM
- other brain neurons: 263 nCPM
- retinal amacrine cells: 191 nCPM
- retinal ganglion cells: 158 nCPM
- brain excitatory neurons: 106 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- midbrain: 70 nTPM
- hypothalamus: 46 nTPM
- pons: 23 nTPM
- thalamus: 19 nTPM
- medulla oblongata: 15 nTPM
- spinal cord: 9.8 nTPM
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)
- 0.71
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.08
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- adult walking behavior
- cerebellar Purkinje cell layer development
- dendrite development
- proteasome-mediated ubiquitin-dependent protein catabolic process
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KLHL1 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 KLHL1 as an antibody target. Whether an autoantibody or antibody against KLHL1 could matter depends on whether native KLHL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KLHL1 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 KLHL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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