Seroatlas · Human Serome Atlas

KDF1

Keratinocyte differentiation factor 1

Also known as: C1orf172, FLJ34633, KDF1_HUMAN, RP11-344H11.3

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

Protein identityUniProt · HPA

UniProt accession
Q8NAX2
Gene
KDF1
Ensembl
ENSG00000175707
Chromosome
1
Canonical length
398 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane,Cytosol

OverviewNCBI Gene

Predicted to be involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin epidermis development. Predicted to act upstream of or within several processes, including keratinocyte development; negative regulation of keratinocyte proliferation; and protein stabilization. Predicted to be located in cytoplasm. Predicted to be active in cell junction. Implicated in ectodermal dysplasia 12. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

398 residues, UniProt reviewed canonical sequence.

>Q8NAX2|KDF1
     1  MPRPGHPRPA SGPPRLGPWE RPTELCLETY DKPPQPPPSR RTRRPDPKDP GHHGPESITF
    61  ISGSAEPALE SPTCCLLWRP WVWEWCRAAF CFRRCRDCLQ RCGACVRGCS PCLSTEDSTE
   121  GTAEANWAKE HNGVPPSPDR APPSRRDGQR LKSTMGSSFS YPDVKLKGIP VYPYPRATSP
   181  APDADSCCKE PLADPPPMRH SLPSTFASSP RGSEEYYSFH ESDLDLPEMG SGSMSSREID
   241  VLIFKKLTEL FSVHQIDELA KCTSDTVFLE KTSKISDLIS SITQDYHLDE QDAEGRLVRG
   301  IIRISTRKSR ARPQTSEGRS TRAAAPTAAA PDSGHETMVG SGLSQDELTV QISQETTADA
   361  IARKLRPYGA PGYPASHDSS FQGTDTDSSG APLLQVYC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KDF1 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
0
Mean surface accessibility (rSASA)
0.64
Highest tissue expression
19 nTPM

Expression across tissuesHPA

Tissue

  • esophagus: 19 nTPM
  • epididymis: 17 nTPM
  • skin: 16 nTPM
  • pancreas: 15 nTPM
  • salivary gland: 12 nTPM
  • duodenum: 12 nTPM

Single-cell type

  • esophageal apical cells: 69 nCPM
  • epididymal principal cells: 66 nCPM
  • esophageal suprabasal cells: 45 nCPM
  • esophageal basal cells: 40 nCPM
  • cytotrophoblasts: 38 nCPM
  • syncytiotrophoblasts: 38 nCPM

Immune cell

  • naive CD4 T-cell: 6.2 nTPM
  • memory CD4 T-cell: 4.3 nTPM
  • naive CD8 T-cell: 3.8 nTPM
  • naive B-cell: 3.4 nTPM
  • MAIT T-cell: 3.2 nTPM
  • memory CD8 T-cell: 3 nTPM

Brain region

  • cerebellum: 3.4 nTPM
  • cerebral cortex: 2.6 nTPM
  • white matter: 1.4 nTPM
  • pons: 1.1 nTPM
  • amygdala: 1 nTPM
  • choroid plexus: 0.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KDF1.

Disease | AllUniProt

Conditions KDF1 is implicated in, by any mechanism.

  • Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12) MIM:617337

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 130 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
  • Hypodontia

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)
0.63
gnomAD pLI
0.15
DepMap mean gene effect
-0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Keratinocyte differentiation factor 1
  • Domain of unknown function (DUF4656)

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KDF1 as an antibody target. Whether an autoantibody or antibody against KDF1 could matter depends on whether native KDF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KDF1 is annotated at the cell surface, where native KDF1 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 KDF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KDF1. 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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