Seroatlas · Human Serome Atlas

KHDC3L

KH domain-containing protein 3

Also known as: C6orf221, ECAT1, KHDC3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q587J8
Gene
KHDC3L
Ensembl
ENSG00000203908
Chromosome
6
Canonical length
217 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

217 residues, UniProt reviewed canonical sequence.

>Q587J8|KHDC3L
     1  MDAPRRFPTL VQLMQPKAMP VEVLGHLPKR FSWFHSEFLK NPKVVRLEVW LVEKIFGRGG
    61  ERIPHVQGMS QILIHVNRLD PNGEAEILVF GRPSYQEDTI KMIMNLADYH RQLQAKGSGK
   121  ALAQDVATQK AETQRSSIEV REAGTQRSVE VREAGTQRSV EVQEVGTQGS PVEVQEAGTQ
   181  QSLQAANKSG TQRSPEAASK AVTQRFREDA RDPVTRL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KHDC3L 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)
0.51
Highest tissue expression
1.3 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 1.3 nTPM
  • testis: 1 nTPM
  • hippocampal formation: 0.8 nTPM
  • basal ganglia: 0.7 nTPM
  • lung: 0.5 nTPM
  • amygdala: 0.4 nTPM

Single-cell type

  • oocytes: 65 nCPM
  • retinal amacrine cells: 0.7 nCPM
  • peritubular myoid cells: 0.5 nCPM
  • brain excitatory neurons: 0.3 nCPM
  • late primary spermatocytes: 0.3 nCPM
  • astrocytes: 0.2 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

  • hippocampal formation: 0.6 nTPM
  • cerebral cortex: 0.5 nTPM
  • cerebellum: 0.4 nTPM
  • white matter: 0.3 nTPM
  • amygdala: 0.2 nTPM
  • basal ganglia: 0.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KHDC3L.

Disease | AllUniProt

Conditions KHDC3L is implicated in, by any mechanism.

  • Hydatidiform mole, recurrent, 2 (HYDM2) MIM:614293

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 47 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hydatidiform mole, recurrent, 2
  • KHDC3L-related condition

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)
1.16
gnomAD pLI
0.12
gnomAD missense Z
0.2
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

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KHDC3L 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 KHDC3L as an antibody target. Whether an autoantibody or antibody against KHDC3L could matter depends on whether native KHDC3L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KHDC3L 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 KHDC3L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KHDC3L. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...