Aliases for YAE1 Gene

Aliases for YAE1 Gene

  • YAE1 Maturation Factor Of ABCE1 2 3 5
  • Yae1 Domain-Containing Protein 1 3 4
  • YAE1, ABCE1 Maturation Factor 2 3
  • Yae1 Domain Containing 1 2 3
  • Protein YAE1 Homolog 3 4
  • C7orf36 3 4
  • YAE1D1 3 4
  • Chromosome 7 Open Reading Frame 36 2
  • CIAB2 3
  • GK003 3

External Ids for YAE1 Gene

Previous HGNC Symbols for YAE1 Gene

  • C7orf36
  • YAE1D1

Summaries for YAE1 Gene

GeneCards Summary for YAE1 Gene

YAE1 (YAE1 Maturation Factor Of ABCE1) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for YAE1 Gene

  • The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein assembly (CIA) complex machinery (PubMed:26182403). May be required for biogenesis of the large ribosomal subunit and initiation of translation (PubMed:26182403).

Additional gene information for YAE1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for YAE1 Gene

Genomics for YAE1 Gene

GeneHancer (GH) Regulatory Elements for YAE1 Gene

Promoters and enhancers for YAE1 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 YAE1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for YAE1

Genomic Locations for YAE1 Gene

Genomic Locations for YAE1 Gene
chr7:39,566,376-39,612,089
(GRCh38/hg38)
Size:
45,714 bases
Orientation:
Plus strand
chr7:39,605,975-39,649,919
(GRCh37/hg19)
Size:
43,945 bases
Orientation:
Plus strand

Genomic View for YAE1 Gene

Genes around YAE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
YAE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for YAE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for YAE1 Gene

Proteins for YAE1 Gene

  • Protein details for YAE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRH1-YAE1_HUMAN
    Recommended name:
    Protein YAE1 homolog
    Protein Accession:
    Q9NRH1
    Secondary Accessions:
    • A4D1W4
    • B4DE83
    • Q6IAF7
    • Q8WVZ5

    Protein attributes for YAE1 Gene

    Size:
    226 amino acids
    Molecular mass:
    25299 Da
    Quaternary structure:
    • Forms a complex with LTO1.

    Alternative splice isoforms for YAE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for YAE1 Gene

Post-translational modifications for YAE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for YAE1 Gene

No data available for DME Specific Peptides for YAE1 Gene

Domains & Families for YAE1 Gene

Gene Families for YAE1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for YAE1 Gene

Suggested Antigen Peptide Sequences for YAE1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57706 (B4DE83_HUMAN)
genes like me logo Genes that share domains with YAE1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for YAE1 Gene

Function for YAE1 Gene

Molecular function for YAE1 Gene

UniProtKB/Swiss-Prot Function:
The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein assembly (CIA) complex machinery (PubMed:26182403). May be required for biogenesis of the large ribosomal subunit and initiation of translation (PubMed:26182403).

Phenotypes From GWAS Catalog for YAE1 Gene

genes like me logo Genes that share phenotypes with YAE1: view

Animal Models for YAE1 Gene

MGI Knock Outs for YAE1:
  • Yae1d1 Yae1d1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for YAE1 Gene

miRTarBase miRNAs that target YAE1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for YAE1 Gene

Localization for YAE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for YAE1 Gene

Cytoplasm. Nucleus.

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 YAE1 gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for YAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with YAE1: view

Pathways & Interactions for YAE1 Gene

PathCards logo

SuperPathways for YAE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for YAE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0106035 protein maturation by [4Fe-4S] cluster transfer IDA 26182403
genes like me logo Genes that share ontologies with YAE1: view

No data available for Pathways by source and SIGNOR curated interactions for YAE1 Gene

Drugs & Compounds for YAE1 Gene

No Compound Related Data Available

Transcripts for YAE1 Gene

mRNA/cDNA for YAE1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for YAE1 Gene

No ASD Table

Relevant External Links for YAE1 Gene

GeneLoc Exon Structure for
YAE1

Expression for YAE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for YAE1

Evidence on tissue expression from TISSUES for YAE1 Gene

  • Nervous system(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with YAE1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for YAE1 Gene

Orthologs for YAE1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for YAE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia YAE1D1 30
  • 99.56 (n)
C7H7ORF36 31
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia YAE1D1 31 30
  • 89.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia YAE1D1 31 30
  • 89.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Yae1d1 17 31 30
  • 79.48 (n)
Gm6505 31
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia YAE1D1 31
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia YAE1D1 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2H7ORF36 30
  • 60.61 (n)
YAE1D1 31
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia YAE1D1 31
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia yae1d1 30
  • 53.27 (n)
zebrafish
(Danio rerio)
Actinopterygii fam105ba 31 30
  • 48.64 (n)
OneToOne
Species where no ortholog for YAE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for YAE1 Gene

ENSEMBL:
Gene Tree for YAE1 (if available)
TreeFam:
Gene Tree for YAE1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for YAE1: view image

Paralogs for YAE1 Gene

No data available for Paralogs for YAE1 Gene

Variants for YAE1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for YAE1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
778301 Benign: not provided 39,572,602(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
rs6947660 - p.Lys68Glu

Additional dbSNP identifiers (rs#s) for YAE1 Gene

Structural Variations from Database of Genomic Variants (DGV) for YAE1 Gene

Variant ID Type Subtype PubMed ID
dgv6337n100 CNV gain 25217958

Variation tolerance for YAE1 Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.11; 80.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for YAE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
YAE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for YAE1 Gene

Disorders for YAE1 Gene

Additional Disease Information for YAE1

No disorders were found for YAE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for YAE1 Gene

Publications for YAE1 Gene

  1. The deca-GX3 proteins Yae1-Lto1 function as adaptors recruiting the ABC protein Rli1 for iron-sulfur cluster insertion. (PMID: 26182403) Paul VD … Lill R (eLife 2015) 2 3 4 54
  2. The function of ORAOV1/LTO1, a gene that is overexpressed frequently in cancer: essential roles in the function and biogenesis of the ribosome. (PMID: 23318452) Zhai C … Panaretou B (Oncogene 2014) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 54

Products for YAE1 Gene

Sources for YAE1 Gene