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Protein

Spermatogenesis-associated protein 7

Gene

SPATA7

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

Functioni

Involved in photoreceptor cells maintenance (By similarity). It is required for recruitement 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

Complete GO annotation...

Keywords - Biological processi

Sensory 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
ProteomesiUP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:20423. SPATA7.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • microtubule cytoskeleton Source: UniProtKB
  • photoreceptor connecting cilium Source: UniProtKB
Complete GO annotation...

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
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti332 – 3321I → T Found in a patient with LCA3. 1 Publication
VAR_067191
Retinitis pigmentosa autosomal recessive (ARRP)

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

MIMi268000. phenotype.
604232. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 599599Spermatogenesis-associated protein 7PRO_0000072104Add
BLAST

Proteomic databases

MaxQBiQ9P0W8.
PaxDbiQ9P0W8.
PRIDEiQ9P0W8.

PTM databases

PhosphoSiteiQ9P0W8.

Expressioni

Gene expression databases

BgeeiQ9P0W8.
CleanExiHS_SPATA7.
ExpressionAtlasiQ9P0W8. baseline and differential.
GenevisibleiQ9P0W8. HS.

Organism-specific databases

HPAiHPA038082.
HPA038083.

Interactioni

Subunit structurei

Interacts with RPGRIP1 (PubMed:25398945).1 Publication

Protein-protein interaction databases

BioGridi120922. 2 interactions.
IntActiQ9P0W8. 2 interactions.
MINTiMINT-4725495.
STRINGi9606.ENSP00000377176.

Structurei

3D structure databases

ProteinModelPortaliQ9P0W8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG78294.
GeneTreeiENSGT00390000014113.
HOGENOMiHOG000132972.
HOVERGENiHBG055067.
InParanoidiQ9P0W8.
OMAiETSVNVI.
OrthoDBiEOG7NKKP7.
PhylomeDBiQ9P0W8.
TreeFamiTF330591.

Family and domain databases

InterProiIPR029357. SPATA7.
[Graphical view]
PfamiPF15244. HSD3. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti124 – 1241K → E in CAB66539 (PubMed:11230166).Curated
Sequence conflicti217 – 2171I → T in AAF66077 (PubMed:12508121).Curated
Sequence conflicti305 – 3051A → AA in AAF66078 (PubMed:12736779).Curated
Sequence conflicti405 – 4051E → G in CAB66539 (PubMed:11230166).Curated
Sequence conflicti451 – 4511E → K in CAB66539 (PubMed:11230166).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21D → N.
Corresponds to variant rs4904448 [ dbSNP | Ensembl ].
VAR_051370
Natural varianti74 – 741V → M.2 Publications
Corresponds to variant rs3179969 [ dbSNP | Ensembl ].
VAR_016912
Natural varianti119 – 1191F → L.
Corresponds to variant rs35137272 [ dbSNP | Ensembl ].
VAR_051371
Natural varianti165 – 1651S → N.
Corresponds to variant rs17124662 [ dbSNP | Ensembl ].
VAR_051372
Natural varianti324 – 3241G → E.
Corresponds to variant rs17124677 [ dbSNP | Ensembl ].
VAR_051373
Natural varianti332 – 3321I → T Found in a patient with LCA3. 1 Publication
VAR_067191
Natural varianti534 – 5341R → Q.
Corresponds to variant rs10139784 [ dbSNP | Ensembl ].
VAR_051374

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei32 – 6332Missing in isoform 2. 2 PublicationsVSP_008341Add
BLAST
Alternative sequencei428 – 568141Missing in isoform 3. 1 PublicationVSP_008342Add
BLAST

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.
ENST00000556553; ENSP00000451128; ENSG00000042317. [Q9P0W8-2]
GeneIDi55812.
KEGGihsa:55812.
UCSCiuc001xwq.3. human. [Q9P0W8-1]
uc001xwr.3. human. [Q9P0W8-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120922. 2 interactions.
IntActiQ9P0W8. 2 interactions.
MINTiMINT-4725495.
STRINGi9606.ENSP00000377176.

PTM databases

PhosphoSiteiQ9P0W8.

Polymorphism and mutation databases

BioMutaiSPATA7.
DMDMi37089915.

Proteomic databases

MaxQBiQ9P0W8.
PaxDbiQ9P0W8.
PRIDEiQ9P0W8.

Protocols and materials databases

DNASUi55812.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000045347; ENSP00000045347; ENSG00000042317. [Q9P0W8-3]
ENST00000356583; ENSP00000348991; ENSG00000042317. [Q9P0W8-2]
ENST00000393545; ENSP00000377176; ENSG00000042317.
ENST00000556553; ENSP00000451128; ENSG00000042317. [Q9P0W8-2]
GeneIDi55812.
KEGGihsa:55812.
UCSCiuc001xwq.3. human. [Q9P0W8-1]
uc001xwr.3. human. [Q9P0W8-2]

Organism-specific databases

CTDi55812.
GeneCardsiGC14P088897.
GeneReviewsiSPATA7.
HGNCiHGNC:20423. SPATA7.
HPAiHPA038082.
HPA038083.
MIMi268000. phenotype.
604232. phenotype.
609868. gene.
neXtProtiNX_Q9P0W8.
Orphaneti65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBiPA134907300.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG78294.
GeneTreeiENSGT00390000014113.
HOGENOMiHOG000132972.
HOVERGENiHBG055067.
InParanoidiQ9P0W8.
OMAiETSVNVI.
OrthoDBiEOG7NKKP7.
PhylomeDBiQ9P0W8.
TreeFamiTF330591.

Miscellaneous databases

GeneWikiiSPATA7.
GenomeRNAii55812.
NextBioi60980.
PROiQ9P0W8.
SOURCEiSearch...

Gene expression databases

BgeeiQ9P0W8.
CleanExiHS_SPATA7.
ExpressionAtlasiQ9P0W8. baseline and differential.
GenevisibleiQ9P0W8. HS.

Family and domain databases

InterProiIPR029357. SPATA7.
[Graphical view]
PfamiPF15244. HSD3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis."
    Zhang X., Liu H., Zhang Y., Qiao Y., Miao S.Y., Wang L., Zhang J., Zong S., Koide S.S.
    J. Mol. Med. 81:380-387(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 41-599 (ISOFORM 3), GENE ORGANIZATION, VARIANT MET-74.
    Tissue: Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT MET-74.
    Tissue: Fetal brain.
  3. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 132-599 (ISOFORMS 1/2).
    Tissue: Colon and Testis.
  6. Cited for: INVOLVEMENT IN LCA3 AND ARRP.
  7. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH RPGRIP1.
  8. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
    Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F.
    PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THR-332.

Entry informationi

Entry nameiSPAT7_HUMAN
AccessioniPrimary (citable) accession number: Q9P0W8
Secondary accession number(s): Q5BKY5
, Q8WX30, Q96HF3, Q9H0X0, Q9P0W7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: September 26, 2003
Last modified: July 22, 2015
This is version 110 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 14
    Human chromosome 14: 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

External Data

Dasty 3

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 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.