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UniProtKB - Q8NB90 (AFG2H_HUMAN)

Protein

ATPase family protein 2 homolog

Gene

SPATA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

ATP + H2O = ADP + phosphate.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi394 – 401ATP 1By similarity8
Nucleotide bindingi668 – 675ATP 2By similarity8

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • brain development Source: UniProtKB
  • cell differentiation Source: UniProtKB-KW
  • spermatogenesis Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

Keywordsi

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

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000145375.7
HGNCiHGNC:18119 SPATA5
MIMi613940 gene
neXtProtiNX_Q8NB90

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & 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.
See also OMIM:616577
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs567175477Ensembl.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 mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi166378
MalaCardsiSPATA5
MIMi616577 phenotype
OpenTargetsiENSG00000145375
PharmGKBiPA38294

Chemistry databases

ChEMBLiCHEMBL2311230

Polymorphism and mutation databases

BioMutaiSPATA5
DMDMi308153554

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003305831 – 893ATPase family protein 2 homologAdd BLAST893

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei272PhosphothreonineCombined sources1
Modified residuei274PhosphoserineCombined sources1
Modified residuei279PhosphoserineCombined sources1
Cross-linki859Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

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

PTM databases

iPTMnetiQ8NB90
PhosphoSitePlusiQ8NB90

Expressioni

Gene expression databases

BgeeiENSG00000145375 Expressed in 162 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_SPATA5
GenevisibleiQ8NB90 HS

Organism-specific databases

HPAiHPA036450
HPA036451

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 similarity

Protein-protein interaction databases

BioGridi127927, 32 interactors
IntActiQ8NB90, 13 interactors
MINTiQ8NB90
STRINGi9606.ENSP00000274008

Structurei

3D structure databases

ProteinModelPortaliQ8NB90
ModBaseiSearch...
MobiDBiSearch...

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

Belongs to the AAA ATPase family. AFG2 subfamily.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0730 Eukaryota
COG0464 LUCA
GeneTreeiENSGT00900000140994
HOGENOMiHOG000223225
HOVERGENiHBG108504
InParanoidiQ8NB90
KOiK14575
OMAiIRMGIQP
OrthoDBiEOG091G03VY
PhylomeDBiQ8NB90
TreeFamiTF314525

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
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
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF50692 SSF50692, 1 hit
SSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00674 AAA, 2 hits

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8NB90-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
Show »
Length:696
Mass (Da):75,727
Checksum:i5403422972A776F5
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs567175477Ensembl.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
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:
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]
UniGeneiHs.709648

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
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]
UniGeneiHs.709648

3D structure databases

ProteinModelPortaliQ8NB90
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127927, 32 interactors
IntActiQ8NB90, 13 interactors
MINTiQ8NB90
STRINGi9606.ENSP00000274008

Chemistry databases

ChEMBLiCHEMBL2311230

PTM databases

iPTMnetiQ8NB90
PhosphoSitePlusiQ8NB90

Polymorphism and mutation databases

BioMutaiSPATA5
DMDMi308153554

Proteomic databases

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

Protocols and materials databases

DNASUi166378
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi166378
DisGeNETi166378
EuPathDBiHostDB:ENSG00000145375.7
GeneCardsiSPATA5
H-InvDBiHIX0022056
HGNCiHGNC:18119 SPATA5
HPAiHPA036450
HPA036451
MalaCardsiSPATA5
MIMi613940 gene
616577 phenotype
neXtProtiNX_Q8NB90
OpenTargetsiENSG00000145375
PharmGKBiPA38294
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0730 Eukaryota
COG0464 LUCA
GeneTreeiENSGT00900000140994
HOGENOMiHOG000223225
HOVERGENiHBG108504
InParanoidiQ8NB90
KOiK14575
OMAiIRMGIQP
OrthoDBiEOG091G03VY
PhylomeDBiQ8NB90
TreeFamiTF314525

Miscellaneous databases

ChiTaRSiSPATA5 human
GeneWikiiSPATA5
GenomeRNAii166378
PROiPR:Q8NB90
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145375 Expressed in 162 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_SPATA5
GenevisibleiQ8NB90 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
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
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF50692 SSF50692, 1 hit
SSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00674 AAA, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiAFG2H_HUMAN
AccessioniPrimary (citable) accession number: Q8NB90
Secondary accession number(s): C9JT97
, Q86XW1, Q8NI20, Q8TDL7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: October 5, 2010
Last modified: October 10, 2018
This is version 148 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
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