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Entry version 173 (16 Oct 2019)
Sequence version 1 (01 Mar 2001)
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Protein

Ubiquitin-like modifier-activating enzyme 5

Gene

UBA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

E1-like enzyme which activates UFM1 and SUMO2.5 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei83ATP; via amide nitrogen1 Publication1
Binding sitei104ATP1 Publication1
Binding sitei127ATP1 Publication1
Binding sitei150ATP1 Publication1
Binding sitei184ATP1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi226Zinc1 Publication1
Metal bindingi229Zinc1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei250Glycyl thioester intermediate2 Publications1
Metal bindingi303Zinc1 Publication1
Metal bindingi308Zinc1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processUbl conjugation pathway
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
6.2.1.B9 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ubiquitin-like modifier-activating enzyme 5
Short name:
Ubiquitin-activating enzyme 5
Alternative name(s):
ThiFP1
UFM1-activating enzyme
Ubiquitin-activating enzyme E1 domain-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:UBA5
Synonyms:UBE1DC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23230 UBA5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610552 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9GZZ9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epileptic encephalopathy, early infantile, 44 (EIEE44)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE44 transmission pattern is consistent with autosomal recessive inheritance.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07715355R → H in EIEE44; reduces UFM1 activating enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs774318611EnsemblClinVar.1
Natural variantiVAR_07715457M → V in EIEE44; reduces UFM1 activating enzyme activity; reduces UFM1-DDRGK1 formation. 1 PublicationCorresponds to variant dbSNP:rs532178791EnsemblClinVar.1
Natural variantiVAR_077155168G → E in EIEE44; abolishes UFM1 activating enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs886039761EnsemblClinVar.1
Natural variantiVAR_077156260V → M in EIEE44; reduces UFM1 activating enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs886039759EnsemblClinVar.1
Natural variantiVAR_077158371A → T in EIEE44; reduces UFM1 activating enzyme activity; reduces UFM1 activating enzyme activity; reduces UFM1-DDRGK1 formation. 2 PublicationsCorresponds to variant dbSNP:rs114925667EnsemblClinVar.1
Natural variantiVAR_077159389D → Y in EIEE44; no effect on UFM1 activating enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs886039760EnsemblClinVar.1
Spinocerebellar ataxia, autosomal recessive, 24 (SCAR24)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR24 patients manifest gait instability and speech difficulties with onset in childhood. Clinical features include gait and limb ataxia, dysarthria, nystagmus, cataracts, and cerebellar atrophy on brain imaging.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080409246 – 404Missing in SCAR24; delocalizes protein to the nucleus; activates degradation through the ubiquitin proteasome pathway; decreases protein stability; disrupts interaction with UFM1. Add BLAST159
Natural variantiVAR_077157310K → E in SCAR24; does not affect cytoplasm localization; decreases protein stability; does not affect interaction with UFM1. 1 PublicationCorresponds to variant dbSNP:rs886039762EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi250C → S: Forms a stable intermediate complex. 3 Publications1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
79876

MalaCards human disease database

More...
MalaCardsi
UBA5
MIMi617132 phenotype
617133 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000081307

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
442835 Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162407661

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9GZZ9

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2016429

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
UBA5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74733510

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001949701 – 404Ubiquitin-like modifier-activating enzyme 5Add BLAST404

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei45PhosphoserineCombined sources1
Modified residuei358PhosphoserineCombined sources1
Modified residuei393PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9GZZ9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9GZZ9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9GZZ9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9GZZ9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9GZZ9

PeptideAtlas

More...
PeptideAtlasi
Q9GZZ9

PRoteomics IDEntifications database

More...
PRIDEi
Q9GZZ9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80189 [Q9GZZ9-1]
80190 [Q9GZZ9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9GZZ9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9GZZ9

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9GZZ9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000081307 Expressed in 220 organ(s), highest expression level in body of pancreas

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9GZZ9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9GZZ9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA017235

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts (via C-terminus) with UFC1 (PubMed:17825256, PubMed:29868776).

Interacts with UFM1.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122964, 88 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q9GZZ9

Protein interaction database and analysis system

More...
IntActi
Q9GZZ9, 68 interactors

Molecular INTeraction database

More...
MINTi
Q9GZZ9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000348565

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1404
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9GZZ9

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9GZZ9

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ubiquitin-activating E1 family. UBA5 subfamily.Sequence analysis

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2336 Eukaryota
COG0476 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156177

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000256352

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9GZZ9

KEGG Orthology (KO)

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KOi
K12164

Identification of Orthologs from Complete Genome Data

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OMAi
FTPDQAG

Database of Orthologous Groups

More...
OrthoDBi
1092362at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9GZZ9

TreeFam database of animal gene trees

More...
TreeFami
TF314168

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029752 D-isomer_DH_CS1
IPR000594 ThiF_NAD_FAD-bd
IPR035985 Ubiquitin-activating_enz

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00899 ThiF, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF69572 SSF69572, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9GZZ9-1) [UniParc]FASTAAdd to basket
Also known as: UBE1DC1A

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAESVERLQQ RVQELERELA QERSLQVPRS GDGGGGRVRI EKMSSEVVDS
60 70 80 90 100
NPYSRLMALK RMGIVSDYEK IRTFAVAIVG VGGVGSVTAE MLTRCGIGKL
110 120 130 140 150
LLFDYDKVEL ANMNRLFFQP HQAGLSKVQA AEHTLRNINP DVLFEVHNYN
160 170 180 190 200
ITTVENFQHF MDRISNGGLE EGKPVDLVLS CVDNFEARMT INTACNELGQ
210 220 230 240 250
TWMESGVSEN AVSGHIQLII PGESACFACA PPLVVAANID EKTLKREGVC
260 270 280 290 300
AASLPTTMGV VAGILVQNVL KFLLNFGTVS FYLGYNAMQD FFPTMSMKPN
310 320 330 340 350
PQCDDRNCRK QQEEYKKKVA ALPKQEVIQE EEEIIHEDNE WGIELVSEVS
360 370 380 390 400
EEELKNFSGP VPDLPEGITV AYTIPKKQED SVTELTVEDS GESLEDLMAK

MKNM
Length:404
Mass (Da):44,863
Last modified:March 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i02F0F64FEAA1E880
GO
Isoform 2 (identifier: Q9GZZ9-2) [UniParc]FASTAAdd to basket
Also known as: UBE1DC1B

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.

Show »
Length:348
Mass (Da):38,537
Checksum:i127B3CB48EB035B1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EWE1E7EWE1_HUMAN
Ubiquitin-like modifier-activating ...
UBA5
347Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EQ61E7EQ61_HUMAN
Ubiquitin-like modifier-activating ...
UBA5
377Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J5W5C9J5W5_HUMAN
Ubiquitin-like modifier-activating ...
UBA5
108Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J0F6C9J0F6_HUMAN
Ubiquitin-like modifier-activating ...
UBA5
79Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JRV9C9JRV9_HUMAN
Ubiquitin-like modifier-activating ...
UBA5
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RJC9D6RJC9_HUMAN
Ubiquitin-like modifier-activating ...
UBA5
64Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti403N → S in BAB55199 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07715355R → H in EIEE44; reduces UFM1 activating enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs774318611EnsemblClinVar.1
Natural variantiVAR_07715457M → V in EIEE44; reduces UFM1 activating enzyme activity; reduces UFM1-DDRGK1 formation. 1 PublicationCorresponds to variant dbSNP:rs532178791EnsemblClinVar.1
Natural variantiVAR_077155168G → E in EIEE44; abolishes UFM1 activating enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs886039761EnsemblClinVar.1
Natural variantiVAR_080409246 – 404Missing in SCAR24; delocalizes protein to the nucleus; activates degradation through the ubiquitin proteasome pathway; decreases protein stability; disrupts interaction with UFM1. Add BLAST159
Natural variantiVAR_077156260V → M in EIEE44; reduces UFM1 activating enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs886039759EnsemblClinVar.1
Natural variantiVAR_077157310K → E in SCAR24; does not affect cytoplasm localization; decreases protein stability; does not affect interaction with UFM1. 1 PublicationCorresponds to variant dbSNP:rs886039762EnsemblClinVar.1
Natural variantiVAR_077158371A → T in EIEE44; reduces UFM1 activating enzyme activity; reduces UFM1 activating enzyme activity; reduces UFM1-DDRGK1 formation. 2 PublicationsCorresponds to variant dbSNP:rs114925667EnsemblClinVar.1
Natural variantiVAR_077159389D → Y in EIEE44; no effect on UFM1 activating enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs886039760EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0385281 – 56Missing in isoform 2. CuratedAdd BLAST56

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB154406 mRNA Translation: BAD15375.1
AY253672 mRNA Translation: AAP79600.1
AL136757 mRNA Translation: CAB66691.1
AK026904 mRNA Translation: BAB15587.1
AK027563 mRNA Translation: BAB55199.1
AC020632 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79192.1
CH471052 Genomic DNA Translation: EAW79189.1
CH471052 Genomic DNA Translation: EAW79191.1
BC009737 mRNA Translation: AAH09737.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3076.1 [Q9GZZ9-1]
CCDS3077.1 [Q9GZZ9-2]

NCBI Reference Sequences

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RefSeqi
NP_001307139.1, NM_001320210.1 [Q9GZZ9-2]
NP_001308167.1, NM_001321238.1
NP_001308168.1, NM_001321239.1
NP_079094.1, NM_024818.4 [Q9GZZ9-1]
NP_938143.1, NM_198329.3 [Q9GZZ9-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264991; ENSP00000264991; ENSG00000081307 [Q9GZZ9-2]
ENST00000356232; ENSP00000348565; ENSG00000081307 [Q9GZZ9-1]
ENST00000494238; ENSP00000418807; ENSG00000081307 [Q9GZZ9-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79876

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79876

UCSC genome browser

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UCSCi
uc003epa.5 human [Q9GZZ9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB154406 mRNA Translation: BAD15375.1
AY253672 mRNA Translation: AAP79600.1
AL136757 mRNA Translation: CAB66691.1
AK026904 mRNA Translation: BAB15587.1
AK027563 mRNA Translation: BAB55199.1
AC020632 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79192.1
CH471052 Genomic DNA Translation: EAW79189.1
CH471052 Genomic DNA Translation: EAW79191.1
BC009737 mRNA Translation: AAH09737.1
CCDSiCCDS3076.1 [Q9GZZ9-1]
CCDS3077.1 [Q9GZZ9-2]
RefSeqiNP_001307139.1, NM_001320210.1 [Q9GZZ9-2]
NP_001308167.1, NM_001321238.1
NP_001308168.1, NM_001321239.1
NP_079094.1, NM_024818.4 [Q9GZZ9-1]
NP_938143.1, NM_198329.3 [Q9GZZ9-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3GUCX-ray2.25A/B57-329[»]
3H8VX-ray2.00A/B57-329[»]
5HKHX-ray2.55B338-346[»]
5IA8X-ray2.00A/B334-346[»]
A/B349-374[»]
5IAAX-ray1.85A/B57-346[»]
5L95X-ray2.10A/B68-346[»]
6H77X-ray2.10A/B/C/D36-346[»]
6H78X-ray2.70A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P36-335[»]
6H8CNMR-B333-348[»]
SMRiQ9GZZ9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi122964, 88 interactors
ELMiQ9GZZ9
IntActiQ9GZZ9, 68 interactors
MINTiQ9GZZ9
STRINGi9606.ENSP00000348565

Chemistry databases

ChEMBLiCHEMBL2016429

PTM databases

iPTMnetiQ9GZZ9
PhosphoSitePlusiQ9GZZ9
SwissPalmiQ9GZZ9

Polymorphism and mutation databases

BioMutaiUBA5
DMDMi74733510

Proteomic databases

EPDiQ9GZZ9
jPOSTiQ9GZZ9
MassIVEiQ9GZZ9
MaxQBiQ9GZZ9
PaxDbiQ9GZZ9
PeptideAtlasiQ9GZZ9
PRIDEiQ9GZZ9
ProteomicsDBi80189 [Q9GZZ9-1]
80190 [Q9GZZ9-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
79876

Genome annotation databases

EnsembliENST00000264991; ENSP00000264991; ENSG00000081307 [Q9GZZ9-2]
ENST00000356232; ENSP00000348565; ENSG00000081307 [Q9GZZ9-1]
ENST00000494238; ENSP00000418807; ENSG00000081307 [Q9GZZ9-2]
GeneIDi79876
KEGGihsa:79876
UCSCiuc003epa.5 human [Q9GZZ9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
79876
DisGeNETi79876

GeneCards: human genes, protein and diseases

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GeneCardsi
UBA5
HGNCiHGNC:23230 UBA5
HPAiHPA017235
MalaCardsiUBA5
MIMi610552 gene
617132 phenotype
617133 phenotype
neXtProtiNX_Q9GZZ9
OpenTargetsiENSG00000081307
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA162407661

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2336 Eukaryota
COG0476 LUCA
GeneTreeiENSGT00940000156177
HOGENOMiHOG000256352
InParanoidiQ9GZZ9
KOiK12164
OMAiFTPDQAG
OrthoDBi1092362at2759
PhylomeDBiQ9GZZ9
TreeFamiTF314168

Enzyme and pathway databases

BRENDAi6.2.1.B9 2681
ReactomeiR-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
UBA5 human
EvolutionaryTraceiQ9GZZ9

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
UBE1DC1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
79876
PharosiQ9GZZ9

Protein Ontology

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PROi
PR:Q9GZZ9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000081307 Expressed in 220 organ(s), highest expression level in body of pancreas
ExpressionAtlasiQ9GZZ9 baseline and differential
GenevisibleiQ9GZZ9 HS

Family and domain databases

InterProiView protein in InterPro
IPR029752 D-isomer_DH_CS1
IPR000594 ThiF_NAD_FAD-bd
IPR035985 Ubiquitin-activating_enz
PfamiView protein in Pfam
PF00899 ThiF, 1 hit
SUPFAMiSSF69572 SSF69572, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiUBA5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9GZZ9
Secondary accession number(s): A6NJL3, D3DNC8, Q96ST1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: March 1, 2001
Last modified: October 16, 2019
This is version 173 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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