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Protein

Spermatogenesis-associated protein 7

Gene

SPATA7

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

Functioni

Involved in photoreceptor cells maintenance (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as protein trafficking across the CC to the outer segments (By similarity).By similarity

GO - Biological processi

Keywordsi

Biological processSensory transduction, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Spermatogenesis-associated protein 7
Alternative name(s):
HSD-3.1
Spermatogenesis-associated protein HSD3
Gene namesi
Name:SPATA7
Synonyms:HSD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000042317.16
HGNCiHGNC:20423 SPATA7
MIMi609868 gene
neXtProtiNX_Q9P0W8

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

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Leber congenital amaurosis 3 (LCA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
See also OMIM:604232
Retinitis pigmentosa autosomal recessive (ARRP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:268000

Keywords - Diseasei

Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNETi55812
GeneReviewsiSPATA7
MalaCardsiSPATA7
MIMi268000 phenotype
604232 phenotype
OpenTargetsiENSG00000042317
Orphaneti65 Leber congenital amaurosis
791 Retinitis pigmentosa
364055 Severe early-childhood-onset retinal dystrophy
PharmGKBiPA134907300

Polymorphism and mutation databases

BioMutaiSPATA7
DMDMi37089915

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000721041 – 599Spermatogenesis-associated protein 7Add BLAST599

Proteomic databases

EPDiQ9P0W8
PaxDbiQ9P0W8
PeptideAtlasiQ9P0W8
PRIDEiQ9P0W8
ProteomicsDBi83619
83620 [Q9P0W8-2]
83621 [Q9P0W8-3]

PTM databases

iPTMnetiQ9P0W8
PhosphoSitePlusiQ9P0W8

Expressioni

Gene expression databases

BgeeiENSG00000042317 Expressed in 203 organ(s), highest expression level in right testis
CleanExiHS_SPATA7
ExpressionAtlasiQ9P0W8 baseline and differential
GenevisibleiQ9P0W8 HS

Organism-specific databases

HPAiHPA038082
HPA038083

Interactioni

Subunit structurei

Interacts with RPGRIP1 (PubMed:25398945). Found in a complex with CFAP410, NEK1 and SPATA7 (PubMed:26167768). Interacts with NEK1 (PubMed:26167768).2 Publications

Protein-protein interaction databases

BioGridi120922, 7 interactors
IntActiQ9P0W8, 8 interactors
STRINGi9606.ENSP00000377176

Structurei

3D structure databases

ProteinModelPortaliQ9P0W8
SMRiQ9P0W8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IKU4 Eukaryota
ENOG4111WP7 LUCA
GeneTreeiENSGT00390000014113
HOGENOMiHOG000132972
HOVERGENiHBG055067
InParanoidiQ9P0W8
KOiK19655
OMAiNRHLPFT
OrthoDBiEOG091G06RB
PhylomeDBiQ9P0W8
TreeFamiTF330591

Family and domain databases

InterProiView protein in InterPro
IPR029357 SPATA7
PANTHERiPTHR14917 PTHR14917, 1 hit
PfamiView protein in Pfam
PF15244 HSD3, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P0W8-1) [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
MDGSRRVRAT SVLPRYGPPC LFKGHLSTKS NAFCTDSSSL RLSTLQLVKN
60 70 80 90 100
HMAVHYNKIL SAKAAVDCSV PVSVSTSIKY ADQQRREKLK KELAQCEKEF
110 120 130 140 150
KLTKTAMRAN YKNNSKSLFN TLQKPSGEPQ IEDDMLKEEM NGFSSFARSL
160 170 180 190 200
VPSSERLHLS LHKSSKVITN GPEKNSSSSP SSVDYAASGP RKLSSGALYG
210 220 230 240 250
RRPRSTFPNS HRFQLVISKA PSGDLLDKHS ELFSNKQLPF TPRTLKTEAK
260 270 280 290 300
SFLSQYRYYT PAKRKKDFTD QRIEAETQTE LSFKSELGTA ETKNMTDSEM
310 320 330 340 350
NIKQASNCVT YDAKEKIAPL PLEGHDSTWD EIKDDALQHS SPRAMCQYSL
360 370 380 390 400
KPPSTRKIYS DEEELLYLSF IEDVTDEILK LGLFSNRFLE RLFERHIKQN
410 420 430 440 450
KHLEEEKMRH LLHVLKVDLG CTSEENSVKQ NDVDMLNVFD FEKAGNSEPN
460 470 480 490 500
ELKNESEVTI QQERQQYQKA LDMLLSAPKD ENEIFPSPTE FFMPIYKSKH
510 520 530 540 550
SEGVIIQQVN DETNLETSTL DENHPSISDS LTDRETSVNV IEGDSDPEKV
560 570 580 590
EISNGLCGLN TSPSQSVQFS SVKGDNNHDM ELSTLKIMEM SIEDCPLDV
Length:599
Mass (Da):67,719
Last modified:September 26, 2003 - v3
Checksum:iDEED7B4D732CC74F
GO
Isoform 2 (identifier: Q9P0W8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     32-63: Missing.

Note: No experimental confirmation available.
Show »
Length:567
Mass (Da):64,160
Checksum:iC5E1B8AD089ABEE4
GO
Isoform 3 (identifier: Q9P0W8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     428-568: Missing.

Show »
Length:458
Mass (Da):51,931
Checksum:iD42B8D20120FC796
GO

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5N2G3V5N2_HUMAN
Spermatogenesis-associated protein ...
SPATA7
138Annotation score:
G3V2E1G3V2E1_HUMAN
Spermatogenesis-associated protein ...
SPATA7
228Annotation score:
H0YJ48H0YJ48_HUMAN
Spermatogenesis-associated protein ...
SPATA7
91Annotation score:
H0YJ93H0YJ93_HUMAN
Spermatogenesis-associated protein ...
SPATA7
76Annotation score:
G3V2V4G3V2V4_HUMAN
Spermatogenesis-associated protein ...
SPATA7
81Annotation score:
G3V287G3V287_HUMAN
Spermatogenesis-associated protein ...
SPATA7
85Annotation score:
G3V4A9G3V4A9_HUMAN
Spermatogenesis-associated protein ...
SPATA7
86Annotation score:
G3V5H6G3V5H6_HUMAN
Spermatogenesis-associated protein ...
SPATA7
53Annotation score:
G3V3D2G3V3D2_HUMAN
Spermatogenesis-associated protein ...
SPATA7
42Annotation score:
G3V5V8G3V5V8_HUMAN
Spermatogenesis-associated protein ...
SPATA7
49Annotation score:
There is more potential isoformShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti124K → E in CAB66539 (PubMed:11230166).Curated1
Sequence conflicti217I → T in AAF66077 (PubMed:12508121).Curated1
Sequence conflicti305A → AA in AAF66078 (PubMed:12736779).Curated1
Sequence conflicti405E → G in CAB66539 (PubMed:11230166).Curated1
Sequence conflicti451E → K in CAB66539 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0513702D → N. Corresponds to variant dbSNP:rs4904448EnsemblClinVar.1
Natural variantiVAR_01691274V → M2 PublicationsCorresponds to variant dbSNP:rs3179969EnsemblClinVar.1
Natural variantiVAR_051371119F → L. Corresponds to variant dbSNP:rs35137272EnsemblClinVar.1
Natural variantiVAR_051372165S → N. Corresponds to variant dbSNP:rs17124662EnsemblClinVar.1
Natural variantiVAR_051373324G → E. Corresponds to variant dbSNP:rs17124677EnsemblClinVar.1
Natural variantiVAR_067191332I → T Found in a patient with LCA3. 1 PublicationCorresponds to variant dbSNP:rs534658921Ensembl.1
Natural variantiVAR_051374534R → Q. Corresponds to variant dbSNP:rs10139784EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00834132 – 63Missing in isoform 2. 2 PublicationsAdd BLAST32
Alternative sequenceiVSP_008342428 – 568Missing in isoform 3. 1 PublicationAdd BLAST141

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF144487 mRNA Translation: AAF66077.2
AF144488 mRNA Translation: AAF66078.1
AL136604 mRNA Translation: CAB66539.1
AL049834 Genomic DNA No translation available.
AL353786 Genomic DNA Translation: CAD18999.1
CH471061 Genomic DNA Translation: EAW81380.1
BC008656 mRNA Translation: AAH08656.2
BC090875 mRNA Translation: AAH90875.1
CCDSiCCDS32132.1 [Q9P0W8-2]
CCDS9883.1 [Q9P0W8-1]
RefSeqiNP_001035518.1, NM_001040428.3 [Q9P0W8-2]
NP_060888.2, NM_018418.4 [Q9P0W8-1]
UniGeneiHs.525518

Genome annotation databases

EnsembliENST00000045347; ENSP00000045347; ENSG00000042317 [Q9P0W8-3]
ENST00000356583; ENSP00000348991; ENSG00000042317 [Q9P0W8-2]
ENST00000393545; ENSP00000377176; ENSG00000042317 [Q9P0W8-1]
ENST00000556553; ENSP00000451128; ENSG00000042317 [Q9P0W8-2]
GeneIDi55812
KEGGihsa:55812
UCSCiuc001xwr.5 human [Q9P0W8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF144487 mRNA Translation: AAF66077.2
AF144488 mRNA Translation: AAF66078.1
AL136604 mRNA Translation: CAB66539.1
AL049834 Genomic DNA No translation available.
AL353786 Genomic DNA Translation: CAD18999.1
CH471061 Genomic DNA Translation: EAW81380.1
BC008656 mRNA Translation: AAH08656.2
BC090875 mRNA Translation: AAH90875.1
CCDSiCCDS32132.1 [Q9P0W8-2]
CCDS9883.1 [Q9P0W8-1]
RefSeqiNP_001035518.1, NM_001040428.3 [Q9P0W8-2]
NP_060888.2, NM_018418.4 [Q9P0W8-1]
UniGeneiHs.525518

3D structure databases

ProteinModelPortaliQ9P0W8
SMRiQ9P0W8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120922, 7 interactors
IntActiQ9P0W8, 8 interactors
STRINGi9606.ENSP00000377176

PTM databases

iPTMnetiQ9P0W8
PhosphoSitePlusiQ9P0W8

Polymorphism and mutation databases

BioMutaiSPATA7
DMDMi37089915

Proteomic databases

EPDiQ9P0W8
PaxDbiQ9P0W8
PeptideAtlasiQ9P0W8
PRIDEiQ9P0W8
ProteomicsDBi83619
83620 [Q9P0W8-2]
83621 [Q9P0W8-3]

Protocols and materials databases

DNASUi55812
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000045347; ENSP00000045347; ENSG00000042317 [Q9P0W8-3]
ENST00000356583; ENSP00000348991; ENSG00000042317 [Q9P0W8-2]
ENST00000393545; ENSP00000377176; ENSG00000042317 [Q9P0W8-1]
ENST00000556553; ENSP00000451128; ENSG00000042317 [Q9P0W8-2]
GeneIDi55812
KEGGihsa:55812
UCSCiuc001xwr.5 human [Q9P0W8-1]

Organism-specific databases

CTDi55812
DisGeNETi55812
EuPathDBiHostDB:ENSG00000042317.16
GeneCardsiSPATA7
GeneReviewsiSPATA7
HGNCiHGNC:20423 SPATA7
HPAiHPA038082
HPA038083
MalaCardsiSPATA7
MIMi268000 phenotype
604232 phenotype
609868 gene
neXtProtiNX_Q9P0W8
OpenTargetsiENSG00000042317
Orphaneti65 Leber congenital amaurosis
791 Retinitis pigmentosa
364055 Severe early-childhood-onset retinal dystrophy
PharmGKBiPA134907300
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKU4 Eukaryota
ENOG4111WP7 LUCA
GeneTreeiENSGT00390000014113
HOGENOMiHOG000132972
HOVERGENiHBG055067
InParanoidiQ9P0W8
KOiK19655
OMAiNRHLPFT
OrthoDBiEOG091G06RB
PhylomeDBiQ9P0W8
TreeFamiTF330591

Miscellaneous databases

GeneWikiiSPATA7
GenomeRNAii55812
PROiPR:Q9P0W8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000042317 Expressed in 203 organ(s), highest expression level in right testis
CleanExiHS_SPATA7
ExpressionAtlasiQ9P0W8 baseline and differential
GenevisibleiQ9P0W8 HS

Family and domain databases

InterProiView protein in InterPro
IPR029357 SPATA7
PANTHERiPTHR14917 PTHR14917, 1 hit
PfamiView protein in Pfam
PF15244 HSD3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSPAT7_HUMAN
AccessioniPrimary (citable) accession number: Q9P0W8
Secondary accession number(s): Q5BKY5
, Q8WX30, Q96HF3, Q9H0X0, Q9P0W7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: September 26, 2003
Last modified: November 7, 2018
This is version 132 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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