EIF4H
Eukaryotic translation initiation factor 4H
Also known as: IF4H_HUMAN, KIAA0038, WBSCR1, WSCR1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15056
- Gene
- EIF4H
- Ensembl
- ENSG00000106682
- Chromosome
- 7
- Canonical length
- 248 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear bodies,Cytosol
OverviewNCBI Gene
This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
248 residues, UniProt reviewed canonical sequence.
>Q15056|EIF4H
1 MADFDTYDDR AYSSFGGGRG SRGSAGGHGS RSQKELPTEP PYTAYVGNLP FNTVQGDIDA
61 IFKDLSIRSV RLVRDKDTDK FKGFCYVEFD EVDSLKEALT YDGALLGDRS LRVDIAEGRK
121 QDKGGFGFRK GGPDDRGMGS SRESRGGWDS RDDFNSGFRD DFLGGRGGSR PGDRRTGPPM
181 GSRFRDGPPL RGSNMDFREP TEEERAQRPR LQLKPRTVAT PLNQVANPNS AIFGGARPRE
241 EVVQKEQELocalizationUniProt · AlphaFold · HPA
Whether an antibody against EIF4H 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)
- 0.58
- Highest tissue expression
- 375 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 375 nTPM
- bone marrow: 267 nTPM
- spinal cord: 238 nTPM
- esophagus: 237 nTPM
- pancreas: 215 nTPM
- skin: 213 nTPM
Single-cell type
- late spermatids: 4,262 nCPM
- early spermatids: 1,195 nCPM
- syncytiotrophoblasts: 379 nCPM
- extravillous trophoblasts: 373 nCPM
- esophageal apical cells: 301 nCPM
- migrating cytotrophoblasts: 236 nCPM
Immune cell
- total PBMC: 388 nTPM
- non-classical monocyte: 271 nTPM
- intermediate monocyte: 256 nTPM
- eosinophil: 246 nTPM
- classical monocyte: 230 nTPM
- myeloid DC: 224 nTPM
Brain region
- white matter: 244 nTPM
- spinal cord: 207 nTPM
- thalamus: 204 nTPM
- cerebellum: 200 nTPM
- medulla oblongata: 196 nTPM
- pons: 195 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)
- 0.55
- gnomAD pLI
- 0.44
- gnomAD missense Z
- 2.51
- DepMap mean gene effect
- -0.29
- 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
- developmental growth
- eukaryotic translation initiation factor 4F complex assembly
- formation of translation preinitiation complex
- regulation of translational initiation
Molecular functions
- cadherin binding
- ribosomal small subunit binding
- RNA binding
- RNA strand annealing activity
- RNA strand-exchange activity
- translation factor activity, RNA binding
- translation initiation factor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EIF4H 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 EIF4H as an antibody target. Whether an autoantibody or antibody against EIF4H could matter depends on whether native EIF4H is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EIF4H 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 EIF4H as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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