Format

Send to:

Choose Destination

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

Gene ID: 79876, updated on 6-Jan-2019

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
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
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

Genomic context

See UBA5 in Genome Data Viewer
Location:
3q22.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (132654446..132679786)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (132373290..132397467)

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 atypical chemokine receptor 4 Neighboring gene heat shock protein family A (Hsp70) member pseudogene 19 Neighboring gene nephrocystin 3 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17281, FLJ23251, FLJ23251UBA5

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
UFM1 activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UFM1 activating enzyme activity IDA
Inferred from Direct Assay
more info
PubMed 
UFM1 activating enzyme activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
neuromuscular process IGI
Inferred from Genetic Interaction
more info
PubMed 
protein K69-linked ufmylation IDA
Inferred from Direct Assay
more info
PubMed 
protein modification by small protein conjugation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ufmylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ufmylation IDA
Inferred from Direct Assay
more info
PubMed 
protein ufmylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of intracellular estrogen receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to endoplasmic reticulum stress IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
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)

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
    10052..28662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320210.1NP_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)
    AI681654, AK026904, BC048015, BI562266, BX537742
    Consensus CDS
    CCDS3077.1
    UniProtKB/Swiss-Prot
    Q9GZZ9
    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_001321238.1NP_001308167.1  ubiquitin-like modifier-activating enzyme 5 isoform 3

    Status: REVIEWED

    Source sequence(s)
    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_024818.4NP_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, AI681654, AK056238, AY253672
    Consensus CDS
    CCDS3076.1
    UniProtKB/Swiss-Prot
    Q9GZZ9
    Related
    ENSP00000348565.4, ENST00000356232.8
    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_198329.3NP_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)
    AI681654, AY253672, BQ581736, DB457433
    Consensus CDS
    CCDS3077.1
    UniProtKB/Swiss-Prot
    Q9GZZ9
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    132654446..132679786
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001740272.1 RNA Sequence

Support Center