KHDC1L
KHDC1-like protein
Also known as: KHDCL_HUMAN, RP11-257K9.7
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5JSQ8
- Gene
- KHDC1L
- Ensembl
- ENSG00000256980
- Chromosome
- 6
- Canonical length
- 128 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Vesicles,Cytosol
OverviewNCBI Gene
Predicted to enable RNA binding activity and identical protein binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
128 residues, UniProt reviewed canonical sequence.
>Q5JSQ8|KHDC1L
1 MAVGTSALSK EPWWTLPENF HSPMVFHMEE DQEELIFGLD DTYLRCIELH SHTLIQLERC
61 FTATGQTRVT VVGPPMAKQW LLLMFHCVGS QDSKCHARGL KMLERVRSQP LTNDDLVTSV
121 SLPPYTGDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KHDC1L 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)
- 0.35
- Highest tissue expression
- 7.2 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 7.2 nTPM
- testis: 5 nTPM
- cerebellum: 1.8 nTPM
- pituitary gland: 1.3 nTPM
- amygdala: 1.2 nTPM
- cerebral cortex: 1 nTPM
Single-cell type
- bergmann glia: 0.6 nCPM
- brain inhibitory neurons: 0.5 nCPM
- oligodendrocyte progenitor cells: 0.5 nCPM
- astrocytes: 0.4 nCPM
- ependymal cells: 0.4 nCPM
- brain excitatory neurons: 0.3 nCPM
Immune cell
- memory B-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- basal ganglia: 2.5 nTPM
- cerebellum: 1.3 nTPM
- amygdala: 1.1 nTPM
- cerebral cortex: 0.9 nTPM
- midbrain: 0.6 nTPM
- white matter: 0.6 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)
- 1.36
- gnomAD pLI
- 0.09
- gnomAD missense Z
- 0.33
- DepMap mean gene effect
- -0.06
- 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
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KHDC1L as an antibody target. Whether an autoantibody or antibody against KHDC1L could matter depends on whether native KHDC1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KHDC1L 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 KHDC1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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