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    UBA5 ubiquitin like modifier activating enzyme 5 [ Homo sapiens (human) ]

    Gene ID: 79876, updated on 9-Jun-2024

    Summary

    Official Symbol
    UBA5provided by HGNC
    Official Full Name
    ubiquitin like modifier activating enzyme 5provided by HGNC
    Primary source
    HGNC:HGNC:23230
    See related
    Ensembl:ENSG00000081307 MIM:610552; AllianceGenome:HGNC:23230
    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
    Also known as
    DEE44; EIEE44; SCAR24; THIFP1; UBE1DC1
    Summary
    This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 9.2), thyroid (RPKM 8.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UBA5 in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (132654430..132679794)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (135398923..135424284)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (132373274..132398638)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NPHP3-ACAD11 readthrough (NMD candidate) Neighboring gene acyl-CoA dehydrogenase family member 11 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:132337002-132338201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:132345519-132346020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:132346021-132346520 Neighboring gene atypical chemokine receptor 4 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:132348758-132349957 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:132360104-132360294 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132378955-132379493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20539 Neighboring gene heat shock protein family A (Hsp70) member pseudogene 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132411873-132412374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132412375-132412874 Neighboring gene nephrocystin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20540 Neighboring gene NPHP3 antisense RNA 1 Neighboring gene uncharacterized LOC105374115

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ17281, FLJ23251, FLJ23251UBA5

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables UFM1 activating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables UFM1 activating enzyme activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables UFM1 activating enzyme activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in megakaryocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuromuscular process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein K69-linked ufmylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ufmylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein ufmylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein ufmylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ufmylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of intracellular estrogen receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to endoplasmic reticulum stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to endoplasmic reticulum stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in reticulophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ubiquitin-like modifier-activating enzyme 5
    Names
    UBA5, ubiquitin-activating enzyme E1 homolog
    UFM1-activating enzyme
    ubiquitin-activating enzyme 5
    ubiquitin-activating enzyme E1 domain-containing protein 1
    ubiquitin-activating enzyme E1-domain containing 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_052968.1 RefSeqGene

      Range
      10884..30349
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001320210.2NP_001307139.1  ubiquitin-like modifier-activating enzyme 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' terminal exon, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC020632, AC055732, AI681654, AK026904, BC048015, BI562266, BX537742
      Consensus CDS
      CCDS3077.1
      UniProtKB/TrEMBL
      E7EQ61
      Related
      ENSP00000418807.2, ENST00000494238.6
      Conserved Domains (2) summary
      cd00757
      Location:1241
      ThiF_MoeB_HesA_family; ThiF_MoeB_HesA. Family of E1-like enzymes involved in molybdopterin and thiamine biosynthesis family. The common reaction mechanism catalyzed by MoeB and ThiF, like other E1 enzymes, begins with a nucleophilic attack of the C-terminal carboxylate of MoaD ...
      pfam00899
      Location:12253
      ThiF; ThiF family
    2. NM_001321238.2NP_001308167.1  ubiquitin-like modifier-activating enzyme 5 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC020632, AC055732, AI681654, AY253672, BI562266
      UniProtKB/Swiss-Prot
      Q9GZZ9
      Conserved Domains (2) summary
      cd00757
      Location:9207
      ThiF_MoeB_HesA_family; ThiF_MoeB_HesA. Family of E1-like enzymes involved in molybdopterin and thiamine biosynthesis family. The common reaction mechanism catalyzed by MoeB and ThiF, like other E1 enzymes, begins with a nucleophilic attack of the C-terminal carboxylate of MoaD ...
      pfam00899
      Location:9219
      ThiF; ThiF family
    3. NM_001321239.1NP_001308168.1  ubiquitin-like modifier-activating enzyme 5 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AI681654, AK056238, AY253672, DA042045, DA477833, DA785394
      UniProtKB/Swiss-Prot
      Q9GZZ9
      Conserved Domains (2) summary
      pfam00899
      Location:1197
      ThiF; ThiF family
      cl22428
      Location:1185
      E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common ...
    4. NM_024818.6NP_079094.1  ubiquitin-like modifier-activating enzyme 5 isoform 1

      See identical proteins and their annotated locations for NP_079094.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC020632, AC055732, AI681654, AK056238, AY253672
      Consensus CDS
      CCDS3076.1
      UniProtKB/Swiss-Prot
      A6NJL3, D3DNC8, Q96ST1, Q9GZZ9
      UniProtKB/TrEMBL
      E7EQ61
      Related
      ENSP00000348565.4, ENST00000356232.10
      Conserved Domains (1) summary
      cd00757
      Location:52297
      ThiF_MoeB_HesA_family; ThiF_MoeB_HesA. Family of E1-like enzymes involved in molybdopterin and thiamine biosynthesis family. The common reaction mechanism catalyzed by MoeB and ThiF, like other E1 enzymes, begins with a nucleophilic attack of the C-terminal carboxylate of MoaD ...
    5. NM_198329.4NP_938143.1  ubiquitin-like modifier-activating enzyme 5 isoform 2

      See identical proteins and their annotated locations for NP_938143.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon, resulting in a distinct 5' UTR and the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC020632, AC055732, AI681654, AY253672, BQ581736, DB457433
      Consensus CDS
      CCDS3077.1
      UniProtKB/TrEMBL
      E7EQ61
      Related
      ENSP00000264991.4, ENST00000264991.8
      Conserved Domains (2) summary
      cd00757
      Location:1241
      ThiF_MoeB_HesA_family; ThiF_MoeB_HesA. Family of E1-like enzymes involved in molybdopterin and thiamine biosynthesis family. The common reaction mechanism catalyzed by MoeB and ThiF, like other E1 enzymes, begins with a nucleophilic attack of the C-terminal carboxylate of MoaD ...
      pfam00899
      Location:12253
      ThiF; ThiF family

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      132654430..132679794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007095728.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      135398923..135424284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486800.1 RNA Sequence