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    ATE1 arginyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 11101, updated on 17-Jun-2019

    Summary

    Official Symbol
    ATE1provided by HGNC
    Official Full Name
    arginyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:782
    See related
    Ensembl:ENSG00000107669 MIM:607103
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.9), testis (RPKM 7.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See ATE1 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (121740421..121928801, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (123499939..123688149, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984183 Neighboring gene ribosomal protein S15a pseudogene 5 Neighboring gene ATE1 antisense RNA 1 Neighboring gene NSE4 homolog A, SMC5-SMC6 complex component Neighboring gene transforming acidic coiled-coil containing protein 2 Neighboring gene Sharpr-MPRA regulatory regions 8460 and 2354

    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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC26724

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    arginyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    arginyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein arginylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein arginylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    arginyl-tRNA--protein transferase 1
    Names
    R-transferase 1
    arginine-tRNA--protein transferase 1
    arginyl-tRNA-protein transferase
    NP_001001976.1
    NP_001275663.1
    NP_001275664.1
    NP_001275665.1
    NP_008972.2
    XP_005269515.1
    XP_005269516.1
    XP_016871086.1
    XP_016871087.1
    XP_016871088.1
    XP_016871089.1
    XP_016871090.1
    XP_016871091.1
    XP_016871092.1
    XP_016871093.1

    NCBI Reference Sequences (RefSeq)

    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_001001976.2NP_001001976.1  arginyl-tRNA--protein transferase 1 isoform 1

      See identical proteins and their annotated locations for NP_001001976.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC025947, AF079098, AK124669, AL731566, HY046979
      Consensus CDS
      CCDS31300.1
      UniProtKB/Swiss-Prot
      O95260
      UniProtKB/TrEMBL
      B3KWA3
      Related
      ENSP00000224652.6, ENST00000224652.10
      Conserved Domains (2) summary
      pfam04376
      Location:2192
      ATE_N; Arginine-tRNA-protein transferase, N terminus
      pfam04377
      Location:290431
      ATE_C; Arginine-tRNA-protein transferase, C terminus
    2. NM_001288734.1NP_001275663.1  arginyl-tRNA--protein transferase 1 isoform 3

      See identical proteins and their annotated locations for NP_001275663.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC025947, AF079098, AK124669, AK296356, AK303604, HY046979
      Consensus CDS
      CCDS73211.1
      UniProtKB/Swiss-Prot
      O95260
      UniProtKB/TrEMBL
      B3KWA3, B4DK25, B4E107
      Related
      ENSP00000444852.1, ENST00000543447.5
      Conserved Domains (1) summary
      pfam04377
      Location:175316
      ATE_C; Arginine-tRNA-protein transferase, C terminus
    3. NM_001288735.1NP_001275664.1  arginyl-tRNA--protein transferase 1 isoform 4

      See identical proteins and their annotated locations for NP_001275664.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR, initiates translation at a downstream start codon, and uses an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (4) has a shorter N-terminus and a unique internal segment, compared to isoform 1.
      Source sequence(s)
      AC025947, AF079099, AK124669, AK303604, AL731566, HY046979
      Consensus CDS
      CCDS73212.1
      UniProtKB/Swiss-Prot
      O95260
      UniProtKB/TrEMBL
      B3KWA3, B4E107
      Related
      ENSP00000358036.3, ENST00000369040.7
      Conserved Domains (1) summary
      pfam04377
      Location:198335
      ATE_C; Arginine-tRNA-protein transferase, C terminus
    4. NM_001288736.1NP_001275665.1  arginyl-tRNA--protein transferase 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding region, and uses an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (5) has a shorter and distinct N-terminus and a unique internal segment, compared to isoform 1.
      Source sequence(s)
      AC025947, AF079098, AF079099, AK124669, AL731566
      Consensus CDS
      CCDS73213.1
      UniProtKB/Swiss-Prot
      O95260
      UniProtKB/TrEMBL
      B3KWA3, F5GXE4
      Related
      ENSP00000440881.1, ENST00000540606.5
      Conserved Domains (2) summary
      pfam04376
      Location:1485
      ATE_N; Arginine-tRNA-protein transferase, N terminus
      pfam04377
      Location:287424
      ATE_C; Arginine-tRNA-protein transferase, C terminus
    5. NM_007041.4NP_008972.2  arginyl-tRNA--protein transferase 1 isoform 2

      See identical proteins and their annotated locations for NP_008972.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is the same length as isoform 1 but has a unique internal segment.
      Source sequence(s)
      AC025947, AL731542, AL731566
      Consensus CDS
      CCDS31299.1
      UniProtKB/Swiss-Prot
      O95260
      UniProtKB/TrEMBL
      B3KWA3
      Related
      ENSP00000358039.3, ENST00000369043.7
      Conserved Domains (2) summary
      pfam04376
      Location:2192
      ATE_N; Arginine-tRNA-protein transferase, N terminus
      pfam04377
      Location:294431
      ATE_C; Arginine-tRNA-protein transferase, C terminus

    RNA

    1. NR_110006.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 5'-terminal exon and lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC025947, AL731542, AL731566

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      121740421..121928801 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269459.3XP_005269516.1  arginyl-tRNA--protein transferase 1 isoform X3

      Conserved Domains (2) summary
      pfam04376
      Location:1485
      ATE_N; Arginine-tRNA-protein transferase, N terminus
      pfam04377
      Location:330467
      ATE_C; Arginine-tRNA-protein transferase, C terminus
    2. XM_017015598.2XP_016871087.1  arginyl-tRNA--protein transferase 1 isoform X4

    3. XM_017015599.2XP_016871088.1  arginyl-tRNA--protein transferase 1 isoform X5

    4. XM_005269458.3XP_005269515.1  arginyl-tRNA--protein transferase 1 isoform X2

      Conserved Domains (2) summary
      pfam04376
      Location:2192
      ATE_N; Arginine-tRNA-protein transferase, N terminus
      pfam04377
      Location:337474
      ATE_C; Arginine-tRNA-protein transferase, C terminus
    5. XM_017015604.1XP_016871093.1  arginyl-tRNA--protein transferase 1 isoform X10

    6. XM_017015602.1XP_016871091.1  arginyl-tRNA--protein transferase 1 isoform X8

    7. XM_017015600.1XP_016871089.1  arginyl-tRNA--protein transferase 1 isoform X6

    8. XM_017015597.1XP_016871086.1  arginyl-tRNA--protein transferase 1 isoform X1

    9. XM_017015603.1XP_016871092.1  arginyl-tRNA--protein transferase 1 isoform X9

    10. XM_017015601.2XP_016871090.1  arginyl-tRNA--protein transferase 1 isoform X7

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