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Protein

Spermatogenesis-associated protein 5

Gene

SPATA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in morphological and functional mitochondrial transformations during spermatogenesis.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi394 – 4018ATP 1Sequence analysis
Nucleotide bindingi668 – 6758ATP 2Sequence analysis

GO - Molecular functioni

GO - Biological processi

  • brain development Source: UniProtKB
  • cell differentiation Source: UniProtKB-KW
  • spermatogenesis Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Spermatogenesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Spermatogenesis-associated protein 5
Alternative name(s):
ATPase family protein 2 homolog
Spermatogenesis-associated factor protein
Gene namesi
Name:SPATA5
Synonyms:AFG2, SPAF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:18119. SPATA5.

Subcellular locationi

  • Cytoplasm By similarity
  • Mitochondrion By similarity

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti84 – 841R → Q in EHLMRS. 1 Publication
Corresponds to variant rs745858366 [ dbSNP | Ensembl ].
VAR_075775
Natural varianti90 – 901S → I in EHLMRS. 1 Publication
Corresponds to variant rs796051893 [ dbSNP | Ensembl ].
VAR_075776
Natural varianti100 – 1001A → T in EHLMRS. 1 Publication
Corresponds to variant rs796051895 [ dbSNP | Ensembl ].
VAR_075777
Natural varianti330 – 3301Missing in EHLMRS. 1 Publication
VAR_075778
Natural varianti448 – 4481S → L in EHLMRS. 1 Publication
Corresponds to variant rs766034355 [ dbSNP | Ensembl ].
VAR_075779
Natural varianti488 – 4881V → L in EHLMRS. 1 Publication
VAR_075780
Natural varianti529 – 5291R → Q in EHLMRS. 1 Publication
Corresponds to variant rs567175477 [ dbSNP | Ensembl ].
VAR_075781
Natural varianti626 – 6261W → C in EHLMRS. 1 Publication
Corresponds to variant rs796052222 [ dbSNP | Ensembl ].
VAR_075782
Natural varianti628 – 6281D → G in EHLMRS. 1 Publication
Corresponds to variant rs768528444 [ dbSNP | Ensembl ].
VAR_075783
Natural varianti784 – 7841R → Q in EHLMRS. 1 Publication
Corresponds to variant rs796051894 [ dbSNP | Ensembl ].
VAR_075784
Natural varianti844 – 8441A → V in EHLMRS. 1 Publication
Corresponds to variant rs796051892 [ dbSNP | Ensembl ].
VAR_075785

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

MIMi616577. phenotype.
PharmGKBiPA38294.

Chemistry

ChEMBLiCHEMBL2311230.

Polymorphism and mutation databases

BioMutaiSPATA5.
DMDMi308153554.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 893893Spermatogenesis-associated protein 5PRO_0000330583Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei272 – 2721PhosphothreonineCombined sources
Modified residuei274 – 2741PhosphoserineCombined sources
Modified residuei279 – 2791PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NB90.
MaxQBiQ8NB90.
PaxDbiQ8NB90.
PeptideAtlasiQ8NB90.
PRIDEiQ8NB90.

PTM databases

iPTMnetiQ8NB90.
PhosphoSiteiQ8NB90.

Expressioni

Gene expression databases

BgeeiENSG00000145375.
CleanExiHS_SPATA5.
GenevisibleiQ8NB90. HS.

Organism-specific databases

HPAiHPA036450.
HPA036451.

Interactioni

Protein-protein interaction databases

BioGridi127927. 15 interactions.
IntActiQ8NB90. 9 interactions.
MINTiMINT-3041496.
STRINGi9606.ENSP00000274008.

Structurei

3D structure databases

ProteinModelPortaliQ8NB90.
SMRiQ8NB90. Positions 339-886.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the AAA ATPase family. AFG2 subfamily.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0730. Eukaryota.
COG0464. LUCA.
GeneTreeiENSGT00810000125522.
HOGENOMiHOG000223225.
HOVERGENiHBG108504.
InParanoidiQ8NB90.
KOiK14575.
OMAiDFLQAMN.
OrthoDBiEOG091G03VY.
PhylomeDBiQ8NB90.
TreeFamiTF314525.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR009010. Asp_de-COase-like_dom.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00004. AAA. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF50692. SSF50692. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS00674. AAA. 2 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti55 – 551Missing in AAH48217 (PubMed:15489334).Curated
Sequence conflicti66 – 661S → P in AAM00262 (Ref. 1) Curated
Sequence conflicti210 – 2101S → P in AAM00262 (Ref. 1) Curated
Sequence conflicti568 – 5681C → Y in BAC03651 (PubMed:14702039).Curated
Sequence conflicti603 – 6031L → F in AAM00262 (Ref. 1) Curated
Sequence conflicti614 – 6141M → T in BAC03651 (PubMed:14702039).Curated
Sequence conflicti695 – 6951P → S in AAM43608 (Ref. 2) Curated
Sequence conflicti851 – 8511D → G in AAM00262 (Ref. 1) Curated
Sequence conflicti891 – 8911H → R in AAM00262 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271C → S.
Corresponds to variant rs35430470 [ dbSNP | Ensembl ].
VAR_042703
Natural varianti84 – 841R → Q in EHLMRS. 1 Publication
Corresponds to variant rs745858366 [ dbSNP | Ensembl ].
VAR_075775
Natural varianti90 – 901S → I in EHLMRS. 1 Publication
Corresponds to variant rs796051893 [ dbSNP | Ensembl ].
VAR_075776
Natural varianti100 – 1001A → T in EHLMRS. 1 Publication
Corresponds to variant rs796051895 [ dbSNP | Ensembl ].
VAR_075777
Natural varianti330 – 3301Missing in EHLMRS. 1 Publication
VAR_075778
Natural varianti448 – 4481S → L in EHLMRS. 1 Publication
Corresponds to variant rs766034355 [ dbSNP | Ensembl ].
VAR_075779
Natural varianti488 – 4881V → L in EHLMRS. 1 Publication
VAR_075780
Natural varianti529 – 5291R → Q in EHLMRS. 1 Publication
Corresponds to variant rs567175477 [ dbSNP | Ensembl ].
VAR_075781
Natural varianti626 – 6261W → C in EHLMRS. 1 Publication
Corresponds to variant rs796052222 [ dbSNP | Ensembl ].
VAR_075782
Natural varianti628 – 6281D → G in EHLMRS. 1 Publication
Corresponds to variant rs768528444 [ dbSNP | Ensembl ].
VAR_075783
Natural varianti673 – 6731S → Y.
Corresponds to variant rs35133326 [ dbSNP | Ensembl ].
VAR_042704
Natural varianti784 – 7841R → Q in EHLMRS. 1 Publication
Corresponds to variant rs796051894 [ dbSNP | Ensembl ].
VAR_075784
Natural varianti844 – 8441A → V in EHLMRS. 1 Publication
Corresponds to variant rs796051892 [ dbSNP | Ensembl ].
VAR_075785

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei694 – 6963GPE → VGC in isoform 3. 1 PublicationVSP_033046
Alternative sequencei697 – 893197Missing in isoform 3. 1 PublicationVSP_033047Add
BLAST
Alternative sequencei781 – 79010ALMRPGRIDR → VPPSQTFLLL in isoform 2. 1 PublicationVSP_033048
Alternative sequencei791 – 893103Missing in isoform 2. 1 PublicationVSP_033049Add
BLAST

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

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.
SMRiQ8NB90. Positions 339-886.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127927. 15 interactions.
IntActiQ8NB90. 9 interactions.
MINTiMINT-3041496.
STRINGi9606.ENSP00000274008.

Chemistry

ChEMBLiCHEMBL2311230.

PTM databases

iPTMnetiQ8NB90.
PhosphoSiteiQ8NB90.

Polymorphism and mutation databases

BioMutaiSPATA5.
DMDMi308153554.

Proteomic databases

EPDiQ8NB90.
MaxQBiQ8NB90.
PaxDbiQ8NB90.
PeptideAtlasiQ8NB90.
PRIDEiQ8NB90.

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.
GeneCardsiSPATA5.
H-InvDBHIX0022056.
HGNCiHGNC:18119. SPATA5.
HPAiHPA036450.
HPA036451.
MIMi613940. gene.
616577. phenotype.
neXtProtiNX_Q8NB90.
PharmGKBiPA38294.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0730. Eukaryota.
COG0464. LUCA.
GeneTreeiENSGT00810000125522.
HOGENOMiHOG000223225.
HOVERGENiHBG108504.
InParanoidiQ8NB90.
KOiK14575.
OMAiDFLQAMN.
OrthoDBiEOG091G03VY.
PhylomeDBiQ8NB90.
TreeFamiTF314525.

Miscellaneous databases

ChiTaRSiSPATA5. human.
GeneWikiiSPATA5.
GenomeRNAii166378.
PROiQ8NB90.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145375.
CleanExiHS_SPATA5.
GenevisibleiQ8NB90. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR009010. Asp_de-COase-like_dom.
IPR003959. ATPase_AAA_core.
IPR003960. ATPase_AAA_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00004. AAA. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF50692. SSF50692. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS00674. AAA. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSPAT5_HUMAN
AccessioniPrimary (citable) accession number: Q8NB90
Secondary accession number(s): C9JT97
, Q86XW1, Q8NI20, Q8TDL7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: October 5, 2010
Last modified: September 7, 2016
This is version 127 of the entry and version 3 of the sequence. [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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.