Aliases for EIF1AD Gene

Aliases for EIF1AD Gene

  • Eukaryotic Translation Initiation Factor 1A Domain Containing 2 3 5
  • Haponin 2 3 4
  • Eukaryotic Translation Initiation Factor 1A Domain-Containing Protein 3 4
  • Probable RNA-Binding Protein EIF1AD 3 4
  • MGC11102 2
  • OBELIX 3
  • EIF1AD 5

External Ids for EIF1AD Gene

Previous GeneCards Identifiers for EIF1AD Gene

  • GC11M065522
  • GC11M065764
  • GC11M062090

Summaries for EIF1AD Gene

GeneCards Summary for EIF1AD Gene

EIF1AD (Eukaryotic Translation Initiation Factor 1A Domain Containing) is a Protein Coding gene. Diseases associated with EIF1AD include Nestor-Guillermo Progeria Syndrome. Gene Ontology (GO) annotations related to this gene include RNA binding and translation initiation factor activity.

UniProtKB/Swiss-Prot Summary for EIF1AD Gene

  • Plays a role into cellular response to oxidative stress. Decreases cell proliferation.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EIF1AD Gene

Genomics for EIF1AD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EIF1AD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EIF1AD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EIF1AD

Top Transcription factor binding sites by QIAGEN in the EIF1AD gene promoter:
  • c-Myb
  • E47
  • FOXO1a
  • Hand1
  • NF-1
  • NF-1/L
  • RORalpha1
  • STAT3

Genomic Locations for EIF1AD Gene

Latest Assembly
chr11:65,996,545-66,002,217
(GRCh38/hg38)
Size:
5,673 bases
Orientation:
Minus strand

Previous Assembly
chr11:65,764,016-65,769,628
(GRCh37/hg19 by Entrez Gene)
Size:
5,613 bases
Orientation:
Minus strand

chr11:65,764,016-65,769,647
(GRCh37/hg19 by Ensembl)
Size:
5,632 bases
Orientation:
Minus strand

Genomic View for EIF1AD Gene

Genes around EIF1AD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIF1AD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIF1AD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIF1AD Gene

Proteins for EIF1AD Gene

  • Protein details for EIF1AD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9N8-EIF1A_HUMAN
    Recommended name:
    Probable RNA-binding protein EIF1AD
    Protein Accession:
    Q8N9N8
    Secondary Accessions:
    • B2R4N5
    • Q9BSC1

    Protein attributes for EIF1AD Gene

    Size:
    165 amino acids
    Molecular mass:
    19053 Da
    Quaternary structure:
    • Interacts with GAPDH and STAT1.

    Three dimensional structures from OCA and Proteopedia for EIF1AD Gene

neXtProt entry for EIF1AD Gene

Post-translational modifications for EIF1AD Gene

  • Ubiquitination at Lys56, Lys98, and Lys112
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EIF1AD Gene

Domains & Families for EIF1AD Gene

Gene Families for EIF1AD Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EIF1AD Gene

InterPro:
Blocks:
  • Eukaryotic initiation factor 1A (eIF-1A)

Suggested Antigen Peptide Sequences for EIF1AD Gene

GenScript: Design optimal peptide antigens:
  • Haponin (EIF1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N9N8

UniProtKB/Swiss-Prot:

EIF1A_HUMAN :
  • Belongs to the EIF1AD family.
Family:
  • Belongs to the EIF1AD family.
genes like me logo Genes that share domains with EIF1AD: view

Function for EIF1AD Gene

Molecular function for EIF1AD Gene

UniProtKB/Swiss-Prot Function:
Plays a role into cellular response to oxidative stress. Decreases cell proliferation.

Phenotypes From GWAS Catalog for EIF1AD Gene

Gene Ontology (GO) - Molecular Function for EIF1AD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003743 translation initiation factor activity IEA --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with EIF1AD: view
genes like me logo Genes that share phenotypes with EIF1AD: view

Animal Models for EIF1AD Gene

MGI Knock Outs for EIF1AD:
  • Eif1ad Eif1ad<tm1b(EUCOMM)Hmgu>

miRNA for EIF1AD Gene

miRTarBase miRNAs that target EIF1AD

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF1AD

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EIF1AD Gene

Localization for EIF1AD Gene

Subcellular locations from UniProtKB/Swiss-Prot for EIF1AD Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EIF1AD gene
Compartment Confidence
nucleus 4
cytoskeleton 1
cytosol 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Intermediate filaments (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EIF1AD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with EIF1AD: view

Pathways & Interactions for EIF1AD Gene

PathCards logo

SuperPathways for EIF1AD Gene

No Data Available

Gene Ontology (GO) - Biological Process for EIF1AD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006413 translational initiation IEA --
genes like me logo Genes that share ontologies with EIF1AD: view

No data available for Pathways by source and SIGNOR curated interactions for EIF1AD Gene

Drugs & Compounds for EIF1AD Gene

No Compound Related Data Available

Transcripts for EIF1AD Gene

mRNA/cDNA for EIF1AD Gene

7 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIF1AD

Alternative Splicing Database (ASD) splice patterns (SP) for EIF1AD Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: -
SP2: - -
SP3: - -
SP4: - - - -
SP5:

Relevant External Links for EIF1AD Gene

GeneLoc Exon Structure for
EIF1AD

Expression for EIF1AD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EIF1AD Gene

Protein differential expression in normal tissues from HIPED for EIF1AD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.5), Breast (11.1), Lung (9.7), CD8 Tcells (6.9), and Pancreas (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EIF1AD Gene



Protein tissue co-expression partners for EIF1AD Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EIF1AD

SOURCE GeneReport for Unigene cluster for EIF1AD Gene:

Hs.425178

mRNA Expression by UniProt/SwissProt for EIF1AD Gene:

Q8N9N8-EIF1A_HUMAN
Tissue specificity: Expressed in the glioblastoma cell line U-87MG, the embryonic kidney cell line HEK293, the pancreatic carcinoma cell line PANC-1, the breast carcinoma cell line MCF-7, the lung cancer cell line NCI-H460, and the chronic myelogenous leukemia cell line K-562.

Evidence on tissue expression from TISSUES for EIF1AD Gene

  • Skin(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with EIF1AD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF1AD Gene

Orthologs for EIF1AD Gene

This gene was present in the common ancestor of animals.

Orthologs for EIF1AD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EIF1AD 29 30
  • 99.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EIF1AD 29 30
  • 92.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EIF1AD 29 30
  • 91.92 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 90 (a)
OneToMany
-- 30
  • 88 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Eif1ad 29 16 30
  • 88.24 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Eif1ad 29
  • 87.36 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EIF1AD 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia eif1ad 29
  • 66.45 (n)
Zebrafish
(Danio rerio)
Actinopterygii eif1ad 29 30
  • 59.91 (n)
OneToOne
-- 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG31957 29 30
  • 59.06 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010181 29
  • 58.85 (n)
Worm
(Caenorhabditis elegans)
Secernentea ZK856.11 29 30
  • 47.38 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 41 (a)
OneToOne
Species where no ortholog for EIF1AD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EIF1AD Gene

ENSEMBL:
Gene Tree for EIF1AD (if available)
TreeFam:
Gene Tree for EIF1AD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EIF1AD: view image
Alliance of Genome Resources:
Additional Orthologs for EIF1AD

Paralogs for EIF1AD Gene

No data available for Paralogs for EIF1AD Gene

Variants for EIF1AD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EIF1AD Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs117774800 Likely Benign: Nestor-Guillermo progeria syndrome 66,002,122(-) C/T
NM_001242481.2(EIF1AD):c.-329G>A
FIVE_PRIME_UTR
rs373907315 Uncertain Significance: Nestor-Guillermo progeria syndrome 66,002,113(-) G/GGA
NM_001242481.2(EIF1AD):c.-322_-321dup
FIVE_PRIME_UTR
rs886048511 Uncertain Significance: Nestor-Guillermo progeria syndrome 66,002,090(-) A/G
NM_001242481.2(EIF1AD):c.-297T>C
FIVE_PRIME_UTR
rs886048512 Uncertain Significance: Nestor-Guillermo progeria syndrome 66,002,101(-) G/C
NM_001242481.2(EIF1AD):c.-308C>G
FIVE_PRIME_UTR
rs886048513 Uncertain Significance: Nestor-Guillermo progeria syndrome 66,002,109(-) G/A
NM_001242481.2(EIF1AD):c.-316C>T
FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EIF1AD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EIF1AD Gene

Variant ID Type Subtype PubMed ID
nsv819658 CNV loss 19587683
nsv832191 CNV loss 17160897

Variation tolerance for EIF1AD Gene

Residual Variation Intolerance Score: 54.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIF1AD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIF1AD
Leiden Open Variation Database (LOVD)
EIF1AD

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF1AD Gene

Disorders for EIF1AD Gene

MalaCards: The human disease database

(1) MalaCards diseases for EIF1AD Gene - From: GCD

Disorder Aliases PubMed IDs
nestor-guillermo progeria syndrome
  • ngps
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EIF1AD

genes like me logo Genes that share disorders with EIF1AD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EIF1AD Gene

Publications for EIF1AD Gene

  1. Comparative sequence and structure analysis of eIF1A and eIF1AD. (PMID: 30180896) Yu J … Marintchev A (BMC structural biology 2018) 2 3
  2. Novel protein haponin regulates cellular response to oxidative stress. (PMID: 22095125) Smirnova EV … Lipkin VM (Doklady. Biochemistry and biophysics 2011) 3 4
  3. Towards a proteome-scale map of the human protein-protein interaction network. (PMID: 16189514) Rual JF … Vidal M (Nature 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for EIF1AD Gene