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UniProtKB - Q8NB90 (AFG2H_HUMAN)

Entry version 164 (10 Feb 2021)
Sequence version 3 (05 Oct 2010)
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Protein

ATPase family protein 2 homolog

Gene

SPATA5

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

ATP-dependent chaperone which uses the energy provided by ATP hydrolysis to generate mechanical force to disassemble protein complexes. May be involved in morphological and functional mitochondrial transformations during spermatogenesis.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi394 – 401ATP 1By similarity8
Nucleotide bindingi668 – 675ATP 2By similarity8

<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

  • ATPase activity Source: GO_Central
  • ATP binding Source: UniProtKB-KW
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionChaperone, Developmental protein, Hydrolase
Biological processDifferentiation, Spermatogenesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NB90

<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%5Fand%5Ftaxonomy%5Fsection">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:
ATPase family protein 2 homologCurated (EC:3.6.4.10By similarity)
Alternative name(s):
Spermatogenesis-associated factor protein
Spermatogenesis-associated protein 5
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SPATA5
Synonyms:AFG2, SPAF
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 4

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18119, SPATA5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613940, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NB90

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000145375.7

<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, Cytoskeleton, Mitochondrion

<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

Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss.
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_07577584R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs745858366EnsemblClinVar.1
Natural variantiVAR_07577690S → I in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051893EnsemblClinVar.1
Natural variantiVAR_075777100A → T in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051895EnsemblClinVar.1
Natural variantiVAR_075778330Missing in EHLMRS. 1 Publication1
Natural variantiVAR_075779448S → L in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs766034355EnsemblClinVar.1
Natural variantiVAR_075780488V → L in EHLMRS. 1 Publication1
Natural variantiVAR_075781529R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs567175477EnsemblClinVar.1
Natural variantiVAR_075782626W → C in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796052222Ensembl.1
Natural variantiVAR_075783628D → G in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs768528444EnsemblClinVar.1
Natural variantiVAR_075784784R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051894EnsemblClinVar.1
Natural variantiVAR_075785844A → V in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051892EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease variant, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		166378

MalaCards human disease database

More...MalaCardsi		SPATA5
MIMi616577, phenotype

Open Targets

More...OpenTargetsi		ENSG00000145375

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

More...Orphaneti		457351, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38294

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NB90, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2311230

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SPATA5

Domain mapping of disease mutations (DMDM)

More...DMDMi		308153554

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003305831 – 893ATPase family protein 2 homologAdd BLAST893

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 residuei272PhosphothreonineCombined sources1
Modified residuei274PhosphoserineCombined sources1
Modified residuei279PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki859Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NB90

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NB90

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NB90

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NB90

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

More...PaxDbi		Q8NB90

PeptideAtlas

More...PeptideAtlasi		Q8NB90

PRoteomics IDEntifications database

More...PRIDEi		Q8NB90

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		72749 [Q8NB90-1]
72750 [Q8NB90-2]
72751 [Q8NB90-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NB90

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q8NB90

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

More...PhosphoSitePlusi		Q8NB90

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000145375, Expressed in tendon of biceps brachii and 177 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NB90, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000145375, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homohexamer; ATP binding induces oligomerization.

Forms a ring-shaped particle of about 12 nm diameter, that displays 6-fold radial symmetry.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		127927, 50 interactors

Protein interaction database and analysis system

More...IntActi		Q8NB90, 17 interactors

Molecular INTeraction database

More...MINTi		Q8NB90

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000274008

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NB90, protein

<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

3D structure databases

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

More...SMRi		Q8NB90

Database of comparative protein structure models

More...ModBasei		Search...

<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 general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The first ATP-binding region binds ATP with low affinity whereas the second ATP-binding region binds ATP with high affinity.By similarity

<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 AAA ATPase family. AFG2 subfamily.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0730, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157323

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000688_10_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NB90

Identification of Orthologs from Complete Genome Data

More...OMAi		VMIAFND

Database of Orthologous Groups

More...OrthoDBi		194195at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NB90

TreeFam database of animal gene trees

More...TreeFami		TF314525

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003593, AAA+_ATPase
IPR041569, AAA_lid_3
IPR009010, Asp_de-COase-like_dom_sf
IPR003959, ATPase_AAA_core
IPR003960, ATPase_AAA_CS
IPR027417, P-loop_NTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00004, AAA, 2 hits
PF17862, AAA_lid_3, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00382, AAA, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50692, SSF50692, 1 hit
SSF52540, SSF52540, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00674, AAA, 2 hits

<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%5Flength">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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NB90-1) [UniParc]FASTAAdd to basket

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
MSSKKNRKRL NQSAENGSSL PSAASSCAEA RAPSAGSDFA ATSGTLTVTN 
        60         70         80         90        100
LLEKVDDKIP KTFQNSLIHL GLNTMKSANI CIGRPVLLTS LNGKQEVYTA 
       110        120        130        140        150
WPMAGFPGGK VGLSEMAQKN VGVRPGDAIQ VQPLVGAVLQ AEEMDVALSD 
       160        170        180        190        200
KDMEINEEEL TGCILRKLDG KIVLPGNFLY CTFYGRPYKL QVLRVKGADG 
       210        220        230        240        250
MILGGPQSDS DTDAQRMAFE QSSMETSSLE LSLQLSQLDL EDTQIPTSRS 
       260        270        280        290        300
TPYKPIDDRI TNKASDVLLD VTQSPGDGSG LMLEEVTGLK CNFESAREGN 
       310        320        330        340        350
EQLTEEERLL KFSIGAKCNT DTFYFISSTT RVNFTEIDKN SKEQDNQFKV 
       360        370        380        390        400
TYDMIGGLSS QLKAIREIIE LPLKQPELFK SYGIPAPRGV LLYGPPGTGK 
       410        420        430        440        450
TMIARAVANE VGAYVSVING PEIISKFYGE TEAKLRQIFA EATLRHPSII 
       460        470        480        490        500
FIDELDALCP KREGAQNEVE KRVVASLLTL MDGIGSEVSE GQVLVLGATN 
       510        520        530        540        550
RPHALDAALR RPGRFDKEIE IGVPNAQDRL DILQKLLRRV PHLLTEAELL 
       560        570        580        590        600
QLANSAHGYV GADLKVLCNE AGLCALRRIL KKQPNLPDVK VAGLVKITLK 
       610        620        630        640        650
DFLQAMNDIR PSAMREIAID VPNVSWSDIG GLESIKLKLE QAVEWPLKHP 
       660        670        680        690        700
ESFIRMGIQP PKGVLLYGPP GCSKTMIAKA LANESGLNFL AIKGPELMNK 
       710        720        730        740        750
YVGESERAVR ETFRKARAVA PSIIFFDELD ALAVERGSSL GAGNVADRVL 
       760        770        780        790        800
AQLLTEMDGI EQLKDVTILA ATNRPDRIDK ALMRPGRIDR IIYVPLPDAA 
       810        820        830        840        850
TRREIFKLQF HSMPVSNEVD LDELILQTDA YSGAEIVAVC REAALLALEE 
       860        870        880        890 
DIQANLIMKR HFTQALSTVT PRIPESLRRF YEDYQEKSGL HTL
Length:893
Mass (Da):97,904
Last modified:October 5, 2010 - v3
<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:i60214147CBB31F4A
GO
Isoform 2 (identifier: Q8NB90-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     781-790: ALMRPGRIDR → VPPSQTFLLL
     791-893: Missing.

Show »
Length:790
Mass (Da):86,077
Checksum:iFFFEED99D59D405F
GO
Isoform 3 (identifier: Q8NB90-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     694-696: GPE → VGC
     697-893: Missing.

Show »
Length:696
Mass (Da):75,727
Checksum:i5403422972A776F5
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A6Q8PGU6A0A6Q8PGU6_HUMAN
Vesicle-fusing ATPase
SPATA5
916Annotation 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 conflicti55Missing in AAH48217 (PubMed:15489334).Curated1
Sequence conflicti66S → P in AAM00262 (Ref. 1) Curated1
Sequence conflicti210S → P in AAM00262 (Ref. 1) Curated1
Sequence conflicti568C → Y in BAC03651 (PubMed:14702039).Curated1
Sequence conflicti603L → F in AAM00262 (Ref. 1) Curated1
Sequence conflicti614M → T in BAC03651 (PubMed:14702039).Curated1
Sequence conflicti695P → S in AAM43608 (Ref. 2) Curated1
Sequence conflicti851D → G in AAM00262 (Ref. 1) Curated1
Sequence conflicti891H → R in AAM00262 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04270327C → S. Corresponds to variant dbSNP:rs35430470EnsemblClinVar.1
Natural variantiVAR_07577584R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs745858366EnsemblClinVar.1
Natural variantiVAR_07577690S → I in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051893EnsemblClinVar.1
Natural variantiVAR_075777100A → T in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051895EnsemblClinVar.1
Natural variantiVAR_075778330Missing in EHLMRS. 1 Publication1
Natural variantiVAR_075779448S → L in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs766034355EnsemblClinVar.1
Natural variantiVAR_075780488V → L in EHLMRS. 1 Publication1
Natural variantiVAR_075781529R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs567175477EnsemblClinVar.1
Natural variantiVAR_075782626W → C in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796052222Ensembl.1
Natural variantiVAR_075783628D → G in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs768528444EnsemblClinVar.1
Natural variantiVAR_042704673S → Y. Corresponds to variant dbSNP:rs35133326Ensembl.1
Natural variantiVAR_075784784R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051894EnsemblClinVar.1
Natural variantiVAR_075785844A → V in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051892EnsemblClinVar.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_033046694 – 696GPE → VGC in isoform 3. 1 Publication3
Alternative sequenceiVSP_033047697 – 893Missing in isoform 3. 1 PublicationAdd BLAST197
Alternative sequenceiVSP_033048781 – 790ALMRPGRIDR → VPPSQTFLLL in isoform 2. 1 Publication10
Alternative sequenceiVSP_033049791 – 893Missing in isoform 2. 1 PublicationAdd BLAST103

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF361489 mRNA Translation: AAM00262.1
AF479656 mRNA Translation: AAM43608.1
AK091384 mRNA Translation: BAC03651.1
AC021205 Genomic DNA No translation available.
AC026402 Genomic DNA No translation available.
AC097492 Genomic DNA No translation available.
AC109357 Genomic DNA No translation available.
BC048217 mRNA Translation: AAH48217.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3730.1 [Q8NB90-1]

NCBI Reference Sequences

More...RefSeqi		NP_001304728.1, NM_001317799.1
NP_660208.2, NM_145207.2 [Q8NB90-1]
XP_011529981.1, XM_011531679.2 [Q8NB90-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000274008; ENSP00000274008; ENSG00000145375 [Q8NB90-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		166378

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:166378

UCSC genome browser

More...UCSCi		uc003iez.5, human [Q8NB90-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF361489 mRNA Translation: AAM00262.1
AF479656 mRNA Translation: AAM43608.1
AK091384 mRNA Translation: BAC03651.1
AC021205 Genomic DNA No translation available.
AC026402 Genomic DNA No translation available.
AC097492 Genomic DNA No translation available.
AC109357 Genomic DNA No translation available.
BC048217 mRNA Translation: AAH48217.1
CCDSiCCDS3730.1 [Q8NB90-1]
RefSeqiNP_001304728.1, NM_001317799.1
NP_660208.2, NM_145207.2 [Q8NB90-1]
XP_011529981.1, XM_011531679.2 [Q8NB90-2]

3D structure databases

SMRiQ8NB90
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi127927, 50 interactors
IntActiQ8NB90, 17 interactors
MINTiQ8NB90
STRINGi9606.ENSP00000274008

Chemistry databases

ChEMBLiCHEMBL2311230

PTM databases

iPTMnetiQ8NB90
MetOSiteiQ8NB90
PhosphoSitePlusiQ8NB90

Genetic variation databases

BioMutaiSPATA5
DMDMi308153554

Proteomic databases

EPDiQ8NB90
jPOSTiQ8NB90
MassIVEiQ8NB90
MaxQBiQ8NB90
PaxDbiQ8NB90
PeptideAtlasiQ8NB90
PRIDEiQ8NB90
ProteomicsDBi72749 [Q8NB90-1]
72750 [Q8NB90-2]
72751 [Q8NB90-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26869, 48 antibodies

The DNASU plasmid repository

More...DNASUi		166378

Genome annotation databases

EnsembliENST00000274008; ENSP00000274008; ENSG00000145375 [Q8NB90-1]
GeneIDi166378
KEGGihsa:166378
UCSCiuc003iez.5, human [Q8NB90-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		166378
DisGeNETi166378

GeneCards: human genes, protein and diseases

More...GeneCardsi		SPATA5
HGNCiHGNC:18119, SPATA5
HPAiENSG00000145375, Low tissue specificity
MalaCardsiSPATA5
MIMi613940, gene
616577, phenotype
neXtProtiNX_Q8NB90
OpenTargetsiENSG00000145375
Orphaneti457351, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
PharmGKBiPA38294
VEuPathDBiHostDB:ENSG00000145375.7

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0730, Eukaryota
GeneTreeiENSGT00940000157323
HOGENOMiCLU_000688_10_0_1
InParanoidiQ8NB90
OMAiVMIAFND
OrthoDBi194195at2759
PhylomeDBiQ8NB90
TreeFamiTF314525

Enzyme and pathway databases

PathwayCommonsiQ8NB90

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		166378, 630 hits in 878 CRISPR screens

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

More...ChiTaRSi		SPATA5, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SPATA5

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

More...GenomeRNAii		166378
PharosiQ8NB90, Tbio

Protein Ontology

More...PROi		PR:Q8NB90
RNActiQ8NB90, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000145375, Expressed in tendon of biceps brachii and 177 other tissues
GenevisibleiQ8NB90, HS

Family and domain databases

InterProiView protein in InterPro
IPR003593, AAA+_ATPase
IPR041569, AAA_lid_3
IPR009010, Asp_de-COase-like_dom_sf
IPR003959, ATPase_AAA_core
IPR003960, ATPase_AAA_CS
IPR027417, P-loop_NTPase
PfamiView protein in Pfam
PF00004, AAA, 2 hits
PF17862, AAA_lid_3, 2 hits
SMARTiView protein in SMART
SM00382, AAA, 2 hits
SUPFAMiSSF50692, SSF50692, 1 hit
SSF52540, SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00674, AAA, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiAFG2H_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: Q8NB90
Secondary accession number(s): C9JT97
, Q86XW1, Q8NI20, Q8TDL7
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: October 5, 2010
Last modified: February 10, 2021
This is version 164 of the entry and version 3 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

Reference proteome

Documents

  1. Human entries with genetic variants
    List of human entries with genetic variants
  2. Human variants curated from literature reports
    Index of human variants curated from literature reports
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
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