Seroatlas · Human Serome Atlas

KLB

Beta-klotho

Also known as: KLOTB_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q86Z14
Gene: KLB
Ensembl: ENSG00000134962
Chromosome: 4
Canonical length: 1044 aa
Protein class: Predicted membrane proteins, Transporters
Subcellular location: Mid piece,Principal piece

OverviewNCBI Gene

Enables fibroblast growth factor binding activity and fibroblast growth factor receptor binding activity. Predicted to be involved in carbohydrate metabolic process. Predicted to act upstream of or within positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway and positive regulation of cell population proliferation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1044 residues, UniProt reviewed canonical sequence.

>Q86Z14|KLB
     1  MKPGCAAGSP GNEWIFFSTD EITTRYRNTM SNGGLQRSVI LSALILLRAV TGFSGDGRAI
    61  WSKNPNFTPV NESQLFLYDT FPKNFFWGIG TGALQVEGSW KKDGKGPSIW DHFIHTHLKN
   121  VSSTNGSSDS YIFLEKDLSA LDFIGVSFYQ FSISWPRLFP DGIVTVANAK GLQYYSTLLD
   181  ALVLRNIEPI VTLYHWDLPL ALQEKYGGWK NDTIIDIFND YATYCFQMFG DRVKYWITIH
   241  NPYLVAWHGY GTGMHAPGEK GNLAAVYTVG HNLIKAHSKV WHNYNTHFRP HQKGWLSITL
   301  GSHWIEPNRS ENTMDIFKCQ QSMVSVLGWF ANPIHGDGDY PEGMRKKLFS VLPIFSEAEK
   361  HEMRGTADFF AFSFGPNNFK PLNTMAKMGQ NVSLNLREAL NWIKLEYNNP RILIAENGWF
   421  TDSRVKTEDT TAIYMMKNFL SQVLQAIRLD EIRVFGYTAW SLLDGFEWQD AYTIRRGLFY
   481  VDFNSKQKER KPKSSAHYYK QIIRENGFSL KESTPDVQGQ FPCDFSWGVT ESVLKPESVA
   541  SSPQFSDPHL YVWNATGNRL LHRVEGVRLK TRPAQCTDFV NIKKQLEMLA RMKVTHYRFA
   601  LDWASVLPTG NLSAVNRQAL RYYRCVVSEG LKLGISAMVT LYYPTHAHLG LPEPLLHADG
   661  WLNPSTAEAF QAYAGLCFQE LGDLVKLWIT INEPNRLSDI YNRSGNDTYG AAHNLLVAHA
   721  LAWRLYDRQF RPSQRGAVSL SLHADWAEPA NPYADSHWRA AERFLQFEIA WFAEPLFKTG
   781  DYPAAMREYI ASKHRRGLSS SALPRLTEAE RRLLKGTVDF CALNHFTTRF VMHEQLAGSR
   841  YDSDRDIQFL QDITRLSSPT RLAVIPWGVR KLLRWVRRNY GDMDIYITAS GIDDQALEDD
   901  RLRKYYLGKY LQEVLKAYLI DKVRIKGYYA FKLAEEKSKP RFGFFTSDFK AKSSIQFYNK
   961  VISSRGFPFE NSSSRCSQTQ ENTECTVCLF LVQKKPLIFL GCCFFSTLVL LLSIAIFQRQ
  1021  KRRKFWKAKN LQHIPLKKGK RVVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KLB 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: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 18 nTPM

Expression across tissuesHPA

Tissue

adipose tissue: 18 nTPM
liver: 17 nTPM
pancreas: 5.6 nTPM
breast: 3.5 nTPM
testis: 2.6 nTPM
lung: 1.5 nTPM

Single-cell type

adipocytes: 193 nCPM
late primary spermatocytes: 74 nCPM
hepatocytes: 54 nCPM
pancreatic acinar cells: 33 nCPM
neuroendocrine cells: 25 nCPM
goblet cells: 22 nCPM

Immune cell

basophil: 0.5 nTPM
plasmacytoid DC: 0.5 nTPM
neutrophil: 0.2 nTPM
classical monocyte: 0.1 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

cerebellum: 3.1 nTPM
cerebral cortex: 2.5 nTPM
medulla oblongata: 2 nTPM
basal ganglia: 1.9 nTPM
pons: 1.9 nTPM
hippocampal formation: 1.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KLB.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 240 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Male infertility with azoospermia or oligozoospermia due to single gene mutation

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): 0.43
gnomAD pLI: 0.04
gnomAD missense Z: 1.88
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

plasma membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

KLB is annotated at the cell surface, where native KLB is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

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

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