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YAE1 YAE1 maturation factor of ABCE1 [ Homo sapiens (human) ]

Gene ID: 57002, updated on 2-Nov-2024

Summary

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Official Symbol
YAE1provided by HGNC
Official Full Name
YAE1 maturation factor of ABCE1provided by HGNC
Primary source
HGNC:HGNC:24857
See related
Ensembl:ENSG00000241127 AllianceGenome:HGNC:24857
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CIAB2; GK003; YAE1D1; C7orf36
Summary
Involved in protein maturation by [4Fe-4S] cluster transfer. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 3.0), endometrium (RPKM 2.4) and 25 other tissues See more
Orthologs
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Genomic context

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See YAE1 in Genome Data Viewer
Location:
7p14.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (39566404..39612089)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (39723945..39769644)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (39606003..39651688)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:39547614-39548813 Neighboring gene uncharacterized LOC105375237 Neighboring gene YAE1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25876 Neighboring gene MPRA-validated peak6497 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25878 Neighboring gene TMX1 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:39629115-39629662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18111 Neighboring gene akirin 1 pseudogene Neighboring gene uncharacterized LOC107986785 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39663047-39663894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25879 Neighboring gene RAS like proto-oncogene A Neighboring gene Sharpr-MPRA regulatory region 6412

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The function of ORAOV1/LTO1, a gene that is overexpressed frequently in cancer: essential roles in the function and biogenesis of the ribosome. Zhai C, et al. Oncogene, 2014 Jan 23. PMID 23318452
  2. The deca-GX3 proteins Yae1-Lto1 function as adaptors recruiting the ABC protein Rli1 for iron-sulfur cluster insertion. Paul VD, et al. Elife, 2015 Jul 16. PMID 26182403, Free PMC Article
  3. Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins. Stehling O, et al. Cell Metab, 2013 Aug 6. PMID 23891004, Free PMC Article
  4. ABCE1 is a highly conserved RNA silencing suppressor. Kärblane K, et al. PLoS One, 2015. PMID 25659154, Free PMC Article
  5. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ39538

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein maturation by [4Fe-4S] cluster transfer IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein YAE1 homolog
Names
YAE1, ABCE1 maturation factor
Yae1 domain containing 1
yae1 domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282446.2 → NP_001269375.1  protein YAE1 homolog isoform 2

    See identical proteins and their annotated locations for NP_001269375.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AA157293, AC004837, AK293511, BM767075
    Consensus CDS
    CCDS64630.1
    UniProtKB/Swiss-Prot
    Q9NRH1
    Related
    ENSP00000395777.2, ENST00000432096.2
    Conserved Domains (1) summary
    pfam09811
    Location:45 → 83
    Yae1_N; Essential protein Yae1, N terminal

  2. NM_020192.5 → NP_064577.1  protein YAE1 homolog isoform 1

    See identical proteins and their annotated locations for NP_064577.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF226046, BM767075
    Consensus CDS
    CCDS5459.1
    UniProtKB/Swiss-Prot
    A4D1W4, B4DE83, Q6IAF7, Q8WVZ5, Q9NRH1
    UniProtKB/TrEMBL
    B2RC46
    Related
    ENSP00000223273.2, ENST00000223273.7
    Conserved Domains (1) summary
    pfam09811
    Location:45 → 83
    Yae1_N; Essential protein Yae1, N terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    39566404..39612089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    39723945..39769644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NRH1.1 GenPept UniProtKB/Swiss-Prot:Q9NRH1

Gene LinkOut

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