UniProtKB - Q8NB90 (AFG2H_HUMAN)
Protein
ATPase family protein 2 homolog
Gene
SPATA5
Organism
Homo sapiens (Human)
Status
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
Catalytic activityi
- EC:3.6.4.10By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 394 – 401 | ATP 1By similarity | 8 | |
Nucleotide bindingi | 668 – 675 | ATP 2By similarity | 8 |
GO - Molecular functioni
- ATPase activity Source: GO_Central
- ATP binding Source: UniProtKB-KW
GO - Biological processi
- brain development Source: UniProtKB
- cell differentiation Source: UniProtKB-KW
- spermatogenesis Source: UniProtKB-KW
Keywordsi
Molecular function | Chaperone, Developmental protein, Hydrolase |
Biological process | Differentiation, Spermatogenesis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q8NB90 |
Names & Taxonomyi
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 |
Gene namesi | Name:SPATA5 Synonyms:AFG2, SPAF |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000145375.7 |
HGNCi | HGNC:18119, SPATA5 |
MIMi | 613940, gene |
neXtProti | NX_Q8NB90 |
Subcellular locationi
Mitochondrion
- Mitochondrion By similarity
Other locations
- Cytoplasm By similarity
Mitochondrion
- mitochondrion Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: LIFEdb
Keywords - Cellular componenti
Cytoplasm, MitochondrionPathology & Biotechi
Involvement in diseasei
Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS)1 Publication
The disease is caused by mutations 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075775 | 84 | R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs745858366EnsemblClinVar. | 1 | |
Natural variantiVAR_075776 | 90 | S → I in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051893EnsemblClinVar. | 1 | |
Natural variantiVAR_075777 | 100 | A → T in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051895EnsemblClinVar. | 1 | |
Natural variantiVAR_075778 | 330 | Missing in EHLMRS. 1 Publication | 1 | |
Natural variantiVAR_075779 | 448 | S → L in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs766034355EnsemblClinVar. | 1 | |
Natural variantiVAR_075780 | 488 | V → L in EHLMRS. 1 Publication | 1 | |
Natural variantiVAR_075781 | 529 | R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs567175477EnsemblClinVar. | 1 | |
Natural variantiVAR_075782 | 626 | W → C in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796052222Ensembl. | 1 | |
Natural variantiVAR_075783 | 628 | D → G in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs768528444EnsemblClinVar. | 1 | |
Natural variantiVAR_075784 | 784 | R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051894EnsemblClinVar. | 1 | |
Natural variantiVAR_075785 | 844 | A → V in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051892EnsemblClinVar. | 1 |
Keywords - Diseasei
Deafness, Disease mutation, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 166378 |
MalaCardsi | SPATA5 |
MIMi | 616577, phenotype |
OpenTargetsi | ENSG00000145375 |
Orphaneti | 457351, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
PharmGKBi | PA38294 |
Miscellaneous databases
Pharosi | Q8NB90, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2311230 |
Polymorphism and mutation databases
BioMutai | SPATA5 |
DMDMi | 308153554 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000330583 | 1 – 893 | ATPase family protein 2 homologAdd BLAST | 893 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 272 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 274 | PhosphoserineCombined sources | 1 | |
Modified residuei | 279 | PhosphoserineCombined sources | 1 | |
Cross-linki | 859 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q8NB90 |
jPOSTi | Q8NB90 |
MassIVEi | Q8NB90 |
MaxQBi | Q8NB90 |
PaxDbi | Q8NB90 |
PeptideAtlasi | Q8NB90 |
PRIDEi | Q8NB90 |
ProteomicsDBi | 72749 [Q8NB90-1] 72750 [Q8NB90-2] 72751 [Q8NB90-3] |
PTM databases
iPTMneti | Q8NB90 |
MetOSitei | Q8NB90 |
PhosphoSitePlusi | Q8NB90 |
Expressioni
Gene expression databases
Bgeei | ENSG00000145375, Expressed in tendon of biceps brachii and 177 other tissues |
Genevisiblei | Q8NB90, HS |
Organism-specific databases
HPAi | ENSG00000145375, Low tissue specificity |
Interactioni
Subunit structurei
Homohexamer; ATP binding induces oligomerization.
Forms a ring-shaped particle of about 12 nm diameter, that displays 6-fold radial symmetry.
By similarityProtein-protein interaction databases
BioGRIDi | 127927, 49 interactors |
IntActi | Q8NB90, 17 interactors |
MINTi | Q8NB90 |
STRINGi | 9606.ENSP00000274008 |
Miscellaneous databases
RNActi | Q8NB90, protein |
Family & Domainsi
Domaini
The first ATP-binding region binds ATP with low affinity whereas the second ATP-binding region binds ATP with high affinity.By similarity
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0730, Eukaryota |
GeneTreei | ENSGT00940000157323 |
HOGENOMi | CLU_000688_10_0_1 |
InParanoidi | Q8NB90 |
OMAi | VMIAFND |
OrthoDBi | 194195at2759 |
PhylomeDBi | Q8NB90 |
TreeFami | TF314525 |
Family and domain databases
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 |
Pfami | View protein in Pfam PF00004, AAA, 2 hits PF17862, AAA_lid_3, 2 hits |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF50692, SSF50692, 1 hit SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS00674, AAA, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A6Q8PGU6 | A0A6Q8PGU6_HUMAN | ATPase family protein 2 homolog | SPATA5 | 916 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 55 | Missing in AAH48217 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 66 | S → P in AAM00262 (Ref. 1) Curated | 1 | |
Sequence conflicti | 210 | S → P in AAM00262 (Ref. 1) Curated | 1 | |
Sequence conflicti | 568 | C → Y in BAC03651 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 603 | L → F in AAM00262 (Ref. 1) Curated | 1 | |
Sequence conflicti | 614 | M → T in BAC03651 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 695 | P → S in AAM43608 (Ref. 2) Curated | 1 | |
Sequence conflicti | 851 | D → G in AAM00262 (Ref. 1) Curated | 1 | |
Sequence conflicti | 891 | H → R in AAM00262 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_042703 | 27 | C → S. Corresponds to variant dbSNP:rs35430470EnsemblClinVar. | 1 | |
Natural variantiVAR_075775 | 84 | R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs745858366EnsemblClinVar. | 1 | |
Natural variantiVAR_075776 | 90 | S → I in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051893EnsemblClinVar. | 1 | |
Natural variantiVAR_075777 | 100 | A → T in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051895EnsemblClinVar. | 1 | |
Natural variantiVAR_075778 | 330 | Missing in EHLMRS. 1 Publication | 1 | |
Natural variantiVAR_075779 | 448 | S → L in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs766034355EnsemblClinVar. | 1 | |
Natural variantiVAR_075780 | 488 | V → L in EHLMRS. 1 Publication | 1 | |
Natural variantiVAR_075781 | 529 | R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs567175477EnsemblClinVar. | 1 | |
Natural variantiVAR_075782 | 626 | W → C in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796052222Ensembl. | 1 | |
Natural variantiVAR_075783 | 628 | D → G in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs768528444EnsemblClinVar. | 1 | |
Natural variantiVAR_042704 | 673 | S → Y. Corresponds to variant dbSNP:rs35133326Ensembl. | 1 | |
Natural variantiVAR_075784 | 784 | R → Q in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051894EnsemblClinVar. | 1 | |
Natural variantiVAR_075785 | 844 | A → V in EHLMRS. 1 PublicationCorresponds to variant dbSNP:rs796051892EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_033046 | 694 – 696 | GPE → VGC in isoform 3. 1 Publication | 3 | |
Alternative sequenceiVSP_033047 | 697 – 893 | Missing in isoform 3. 1 PublicationAdd BLAST | 197 | |
Alternative sequenceiVSP_033048 | 781 – 790 | ALMRPGRIDR → VPPSQTFLLL in isoform 2. 1 Publication | 10 | |
Alternative sequenceiVSP_033049 | 791 – 893 | Missing in isoform 2. 1 PublicationAdd BLAST | 103 |
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 |
CCDSi | CCDS3730.1 [Q8NB90-1] |
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
Ensembli | ENST00000274008; ENSP00000274008; ENSG00000145375 [Q8NB90-1] |
GeneIDi | 166378 |
KEGGi | hsa:166378 |
UCSCi | uc003iez.5, human [Q8NB90-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS3730.1 [Q8NB90-1] |
RefSeqi | NP_001304728.1, NM_001317799.1 NP_660208.2, NM_145207.2 [Q8NB90-1] XP_011529981.1, XM_011531679.2 [Q8NB90-2] |
3D structure databases
SMRi | Q8NB90 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127927, 49 interactors |
IntActi | Q8NB90, 17 interactors |
MINTi | Q8NB90 |
STRINGi | 9606.ENSP00000274008 |
Chemistry databases
ChEMBLi | CHEMBL2311230 |
PTM databases
iPTMneti | Q8NB90 |
MetOSitei | Q8NB90 |
PhosphoSitePlusi | Q8NB90 |
Polymorphism and mutation databases
BioMutai | SPATA5 |
DMDMi | 308153554 |
Proteomic databases
EPDi | Q8NB90 |
jPOSTi | Q8NB90 |
MassIVEi | Q8NB90 |
MaxQBi | Q8NB90 |
PaxDbi | Q8NB90 |
PeptideAtlasi | Q8NB90 |
PRIDEi | Q8NB90 |
ProteomicsDBi | 72749 [Q8NB90-1] 72750 [Q8NB90-2] 72751 [Q8NB90-3] |
Protocols and materials databases
Antibodypediai | 26869, 47 antibodies |
DNASUi | 166378 |
Genome annotation databases
Ensembli | ENST00000274008; ENSP00000274008; ENSG00000145375 [Q8NB90-1] |
GeneIDi | 166378 |
KEGGi | hsa:166378 |
UCSCi | uc003iez.5, human [Q8NB90-1] |
Organism-specific databases
CTDi | 166378 |
DisGeNETi | 166378 |
EuPathDBi | HostDB:ENSG00000145375.7 |
GeneCardsi | SPATA5 |
HGNCi | HGNC:18119, SPATA5 |
HPAi | ENSG00000145375, Low tissue specificity |
MalaCardsi | SPATA5 |
MIMi | 613940, gene 616577, phenotype |
neXtProti | NX_Q8NB90 |
OpenTargetsi | ENSG00000145375 |
Orphaneti | 457351, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome |
PharmGKBi | PA38294 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0730, Eukaryota |
GeneTreei | ENSGT00940000157323 |
HOGENOMi | CLU_000688_10_0_1 |
InParanoidi | Q8NB90 |
OMAi | VMIAFND |
OrthoDBi | 194195at2759 |
PhylomeDBi | Q8NB90 |
TreeFami | TF314525 |
Enzyme and pathway databases
PathwayCommonsi | Q8NB90 |
Miscellaneous databases
BioGRID-ORCSi | 166378, 628 hits in 847 CRISPR screens |
ChiTaRSi | SPATA5, human |
GeneWikii | SPATA5 |
GenomeRNAii | 166378 |
Pharosi | Q8NB90, Tbio |
PROi | PR:Q8NB90 |
RNActi | Q8NB90, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000145375, Expressed in tendon of biceps brachii and 177 other tissues |
Genevisiblei | Q8NB90, HS |
Family and domain databases
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 |
Pfami | View protein in Pfam PF00004, AAA, 2 hits PF17862, AAA_lid_3, 2 hits |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF50692, SSF50692, 1 hit SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS00674, AAA, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AFG2H_HUMAN | |
Accessioni | Q8NB90Primary (citable) accession number: Q8NB90 Secondary accession number(s): C9JT97 Q8TDL7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 29, 2008 |
Last sequence update: | October 5, 2010 | |
Last modified: | December 2, 2020 | |
This is version 163 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations