EIF3H

eukaryotic translation initiation factor 3 subunit H, the group of Eukaryotic translation initiation factor 3|JAMM/MPN+ metallopeptidase family

Basic information

Region (hg38): 8:116642129-116766925

Previous symbols: [ "EIF3S3" ]

Links

ENSG00000147677 ∙ NCBI:8667 ∙ OMIM:603912 ∙ HGNC:3273 ∙ Uniprot:O15372 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EIF3H gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF3H gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in EIF3H

This is a list of pathogenic ClinVar variants found in the EIF3H region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-116646498-C-T		not specified	Uncertain significance (Feb 22, 2023)
8-116646500-G-A		not specified	Uncertain significance (Nov 17, 2022)
8-116646509-G-A		not specified	Uncertain significance (May 23, 2023)
8-116657222-G-A		not specified	Uncertain significance (Jan 29, 2024)
8-116658899-T-C		not specified	Uncertain significance (Jul 25, 2023)
8-116755710-C-T		not specified	Uncertain significance (Aug 12, 2021)
8-116755748-G-C		Autism	Uncertain significance (-)
8-116755748-G-T		not specified	Uncertain significance (May 24, 2023)
8-116755769-G-T		not specified	Uncertain significance (Jul 12, 2022)
8-116755772-C-A		not specified	Uncertain significance (Nov 29, 2021)
8-116755778-C-T		not specified	Uncertain significance (Mar 11, 2022)
8-116766611-T-A		not specified	Uncertain significance (May 28, 2023)
8-116766764-T-G		not specified	Uncertain significance (Jun 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EIF3H	protein_coding	protein_coding	ENST00000521861	8	124796

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0475	0.952	125737	0	10	125747	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.638	174	199	0.873	0.0000104	2331
Missense in Polyphen		27	58.843	0.45885		731
Synonymous	-0.496	77	71.7	1.07	0.00000365	644
Loss of Function	2.90	6	20.0	0.300	0.00000103	228

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF- 3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). {ECO:0000255|HAMAP-Rule:MF_03007, ECO:0000269|PubMed:17581632, ECO:0000269|PubMed:25849773, ECO:0000269|PubMed:27462815}.
• Pathway: RNA transport - Homo sapiens (human);Measles - Homo sapiens (human);Translation Factors;Formation of the ternary complex, and subsequently, the 43S complex;Translation initiation complex formation;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S;Eukaryotic Translation Initiation;Translation;Metabolism of proteins;Formation of a pool of free 40S subunits;Ribosomal scanning and start codon recognition;L13a-mediated translational silencing of Ceruloplasmin expression;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

• pRec: 0.234

Intolerance Scores

• loftool: 0.497
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.42

Haploinsufficiency Scores

• pHI: 0.968
• hipred: Y
• hipred_score: 0.816
• ghis: 0.671

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.881

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Eif3h
• Phenotype: cellular phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; skeleton phenotype; immune system phenotype

Zebrafish Information Network

• Gene name: eif3hb
• Affected structure: trunk
• Phenotype tag: abnormal
• Phenotype quality: bent

Gene ontology

• Biological process: formation of cytoplasmic translation initiation complex;translational initiation;regulation of translational initiation;proteolysis
• Cellular component: cytosol;eukaryotic translation initiation factor 3 complex;membrane;eukaryotic 43S preinitiation complex;eukaryotic 48S preinitiation complex;polysomal ribosome;extracellular exosome;eukaryotic translation initiation factor 3 complex, eIF3m
• Molecular function: RNA binding;translation initiation factor activity;protein binding;metallopeptidase activity