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

    Gene ID: 57002, updated on 17-Jun-2024

    Summary

    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, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 3.0), endometrium (RPKM 2.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See YAE1 in Genome Data Viewer
    Location:
    7p14.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (39566404..39612089)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (39723945..39769644)
    105.20220307 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

    Expression

    • Project title: 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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_001282446.2NP_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:4583
      Yae1_N; Essential protein Yae1, N terminal
    2. NM_020192.5NP_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:4583
      Yae1_N; Essential protein Yae1, N terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)