Seroatlas · Human Serome Atlas

KHDC1

KH homology domain-containing protein 1

Also known as: bA257K9.4, C6orf147, C6orf148, Em:AC019205.8, KHDC1_HUMAN, MGC10818, NDG1

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

Protein identityUniProt · HPA

UniProt accession: Q4VXA5
Gene: KHDC1
Ensembl: ENSG00000135314
Chromosome: 6
Canonical length: 237 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Vesicles,Cytosol

OverviewNCBI Gene

Predicted to enable identical protein binding activity and poly(U) RNA binding activity. Predicted to be located in membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

237 residues, UniProt reviewed canonical sequence.

>Q4VXA5|KHDC1
     1  MLSAFQRLFR VLFVIETVSE YGVLIFIYGW PFLQTLAMLL IGTVSFHLWI RRNRERNSRS
    61  GKTRCRSKRS EQSMDMGTSA LSKKPWWTLP QNFHAPMVFH MEEDQEELIF GHGDTYLRCI
   121  EVHSHTLIQL ESWFTATGQT RVTVVGPHRA RQWLLHMFCC VGSQDSYHHA RGLEMLERVR
   181  SQPLTNDDLV TSISVPPYTG DLSLAPRISG TVCLSVPQPS PYQVIGCSGF HLSSLYP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KHDC1 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: 2
Mean surface accessibility (rSASA): 0.43
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

basal ganglia: 14 nTPM
cerebral cortex: 14 nTPM
amygdala: 11 nTPM
midbrain: 9.9 nTPM
hypothalamus: 9.4 nTPM
cerebellum: 9.3 nTPM

Single-cell type

retinal ganglion cells: 89 nCPM
epicardial cells: 73 nCPM
medullary thymic epithelial cells: 65 nCPM
brain excitatory neurons: 50 nCPM
oligodendrocyte progenitor cells: 48 nCPM
brain inhibitory neurons: 48 nCPM

Immune cell

T-reg: 2.8 nTPM
memory CD8 T-cell: 2.5 nTPM
gdT-cell: 2.1 nTPM
basophil: 2 nTPM
naive CD8 T-cell: 1.6 nTPM
memory CD4 T-cell: 1.4 nTPM

Brain region

cerebral cortex: 9.8 nTPM
basal ganglia: 9.4 nTPM
thalamus: 8.8 nTPM
cerebellum: 8.3 nTPM
pons: 8.2 nTPM
white matter: 8.1 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): 1.79
gnomAD pLI: 0
gnomAD missense Z: 0.14
DepMap mean gene effect: -0.02
DepMap dependency class: selective

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

Molecular functions

RNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KHDC1 as an antibody target. Whether an autoantibody or antibody against KHDC1 could matter depends on whether native KHDC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KHDC1 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 KHDC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...