KHDC4
KH homology domain-containing protein 4
Also known as: BLOM7, KHDC4_HUMAN, KIAA0907, SNORA80EHG
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q7Z7F0
- Gene
- KHDC4
- Ensembl
- ENSG00000132680
- Chromosome
- 1
- Canonical length
- 614 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
Enables RNA binding activity. Involved in mRNA splice site recognition. Located in cytoplasm; nucleoplasm; and spliceosomal complex. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
614 residues, UniProt reviewed canonical sequence.
>Q7Z7F0|KHDC4
1 MSAGSATHPG AGGRRSKWDQ PAPAPLLFLP PAAPGGEVTS SGGSPGGTTA APSGALDAAA
61 AVAAKINAML MAKGKLKPTQ NASEKLQAPG KGLTSNKSKD DLVVAEVEIN DVPLTCRNLL
121 TRGQTQDEIS RLSGAAVSTR GRFMTTEEKA KVGPGDRPLY LHVQGQTREL VDRAVNRIKE
181 IITNGVVKAA TGTSPTFNGA TVTVYHQPAP IAQLSPAVSQ KPPFQSGMHY VQDKLFVGLE
241 HAVPTFNVKE KVEGPGCSYL QHIQIETGAK VFLRGKGSGC IEPASGREAF EPMYIYISHP
301 KPEGLAAAKK LCENLLQTVH AEYSRFVNQI NTAVPLPGYT QPSAISSVPP QPPYYPSNGY
361 QSGYPVVPPP QQPVQPPYGV PSIVPPAVSL APGVLPALPT GVPPVPTQYP ITQVQPPAST
421 GQSPMGGPFI PAAPVKTALP AGPQPQPQPQ PPLPSQPQAQ KRRFTEELPD ERESGLLGYQ
481 HGPIHMTNLG TGFSSQNEIE GAGSKPASSS GKERERDRQL MPPPAFPVTG IKTESDERNG
541 SGTLTGSHDY PAKKMKTTEK GFGLVAYAAD SSDEEEEHGG HKNASSFPQG WSLGYQYPSS
601 QPRAKQQMPF WMAPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KHDC4 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)
- 0.6
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- retina: 51 nTPM
- ovary: 45 nTPM
- cerebellum: 45 nTPM
- epididymis: 43 nTPM
- pituitary gland: 42 nTPM
- kidney: 39 nTPM
Single-cell type
- endometrial glandular cells: 177 nCPM
- sertoli cells: 146 nCPM
- endometrial luminal cells: 137 nCPM
- epididymal principal cells: 118 nCPM
- myonuclei: 112 nCPM
- epididymal basal cells: 110 nCPM
Immune cell
- basophil: 4.1 nTPM
- eosinophil: 3 nTPM
- non-classical monocyte: 3 nTPM
- naive CD4 T-cell: 2.9 nTPM
- MAIT T-cell: 2.8 nTPM
- memory CD8 T-cell: 2.8 nTPM
Brain region
- cerebellum: 31 nTPM
- white matter: 26 nTPM
- cerebral cortex: 20 nTPM
- basal ganglia: 20 nTPM
- medulla oblongata: 19 nTPM
- choroid plexus: 19 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)
- 0.32
- gnomAD pLI
- 0.97
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% 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
- K Homology domain, type 1 superfamily
- KHDC4/BBP-like, KH-domain type I
- ATP-dependent RNA helicase PRP5/DDX46/KHDC4, KH domain
- KHDC4/BBP-like, KH-domain type I
- KH-domain
- KH domain containing protein RIK/BLOM7
- KHDC4, second type I KH domain
- KHDC4, first type I KH domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KHDC4 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 KHDC4 as an antibody target. Whether an autoantibody or antibody against KHDC4 could matter depends on whether native KHDC4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KHDC4 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 KHDC4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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