Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9P0W8 (SPAT7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Spermatogenesis-associated protein 7
Alternative name(s):
HSD-3.1
Spermatogenesis-associated protein HSD3
Gene names
Name:SPATA7
Synonyms:HSD3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length599 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May be involved in retinal function. Ref.6

Involvement in disease

Leber congenital amaurosis 3 (LCA3) [MIM:604232]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Ontologies

Keywords
   Biological processSensory transduction
Vision
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseLeber congenital amaurosis
Retinitis pigmentosa
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processresponse to stimulus

Inferred from electronic annotation. Source: UniProtKB-KW

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P0W8-1)

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.
Isoform 2 (identifier: Q9P0W8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     32-63: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9P0W8-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 599599Spermatogenesis-associated protein 7
PRO_0000072104

Natural variations

Alternative sequence32 – 6332Missing in isoform 2.
VSP_008341
Alternative sequence428 – 568141Missing in isoform 3.
VSP_008342
Natural variant21D → N.
Corresponds to variant rs4904448 [ dbSNP | Ensembl ].
VAR_051370
Natural variant741V → M. Ref.1 Ref.2
Corresponds to variant rs3179969 [ dbSNP | Ensembl ].
VAR_016912
Natural variant1191F → L.
Corresponds to variant rs35137272 [ dbSNP | Ensembl ].
VAR_051371
Natural variant1651S → N.
Corresponds to variant rs17124662 [ dbSNP | Ensembl ].
VAR_051372
Natural variant3241G → E.
Corresponds to variant rs17124677 [ dbSNP | Ensembl ].
VAR_051373
Natural variant3321I → T Found in a patient with LCA3. Ref.7
VAR_067191
Natural variant5341R → Q.
Corresponds to variant rs10139784 [ dbSNP | Ensembl ].
VAR_051374

Experimental info

Sequence conflict1241K → E in CAB66539. Ref.2
Sequence conflict2171I → T in AAF66077. Ref.3
Sequence conflict3051A → AA in AAF66078. Ref.1
Sequence conflict4051E → G in CAB66539. Ref.2
Sequence conflict4511E → K in CAB66539. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 26, 2003. Version 3.
Checksum: DEED7B4D732CC74F

FASTA59967,719
        10         20         30         40         50         60 
MDGSRRVRAT SVLPRYGPPC LFKGHLSTKS NAFCTDSSSL RLSTLQLVKN HMAVHYNKIL 

        70         80         90        100        110        120 
SAKAAVDCSV PVSVSTSIKY ADQQRREKLK KELAQCEKEF KLTKTAMRAN YKNNSKSLFN 

       130        140        150        160        170        180 
TLQKPSGEPQ IEDDMLKEEM NGFSSFARSL VPSSERLHLS LHKSSKVITN GPEKNSSSSP 

       190        200        210        220        230        240 
SSVDYAASGP RKLSSGALYG RRPRSTFPNS HRFQLVISKA PSGDLLDKHS ELFSNKQLPF 

       250        260        270        280        290        300 
TPRTLKTEAK SFLSQYRYYT PAKRKKDFTD QRIEAETQTE LSFKSELGTA ETKNMTDSEM 

       310        320        330        340        350        360 
NIKQASNCVT YDAKEKIAPL PLEGHDSTWD EIKDDALQHS SPRAMCQYSL KPPSTRKIYS 

       370        380        390        400        410        420 
DEEELLYLSF IEDVTDEILK LGLFSNRFLE RLFERHIKQN KHLEEEKMRH LLHVLKVDLG 

       430        440        450        460        470        480 
CTSEENSVKQ NDVDMLNVFD FEKAGNSEPN ELKNESEVTI QQERQQYQKA LDMLLSAPKD 

       490        500        510        520        530        540 
ENEIFPSPTE FFMPIYKSKH SEGVIIQQVN DETNLETSTL DENHPSISDS LTDRETSVNV 

       550        560        570        580        590 
IEGDSDPEKV EISNGLCGLN TSPSQSVQFS SVKGDNNHDM ELSTLKIMEM SIEDCPLDV 

« Hide

Isoform 2 [UniParc].

Checksum: C5E1B8AD089ABEE4
Show »

FASTA56764,160
Isoform 3 [UniParc].

Checksum: D42B8D20120FC796
Show »

FASTA45851,931

References

« Hide 'large scale' references
[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]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa."
Wang H., den Hollander A.I., Moayedi Y., Abulimiti A., Li Y., Collin R.W.J., Hoyng C.B., Lopez I., Bray M., Lewis R.A., Lupski J.R., Mardon G., Koenekoop R.K., Chen R.
Am. J. Hum. Genet. 84:380-387(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN LCA3 AND ARRP, POSSIBLE FUNCTION.
[7]"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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32132.1. [Q9P0W8-2]
CCDS9883.1. [Q9P0W8-1]
RefSeqNP_001035518.1. NM_001040428.3. [Q9P0W8-2]
NP_060888.2. NM_018418.4. [Q9P0W8-1]
UniGeneHs.525518.

3D structure databases

ProteinModelPortalQ9P0W8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120922. 1 interaction.
IntActQ9P0W8. 1 interaction.
MINTMINT-4725495.
STRING9606.ENSP00000377176.

PTM databases

PhosphoSiteQ9P0W8.

Polymorphism databases

DMDM37089915.

Proteomic databases

PaxDbQ9P0W8.
PRIDEQ9P0W8.

Protocols and materials databases

DNASU55812.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000045347; ENSP00000045347; ENSG00000042317. [Q9P0W8-3]
ENST00000356583; ENSP00000348991; ENSG00000042317. [Q9P0W8-2]
ENST00000393545; ENSP00000377176; ENSG00000042317. [Q9P0W8-1]
ENST00000556553; ENSP00000451128; ENSG00000042317. [Q9P0W8-2]
GeneID55812.
KEGGhsa:55812.
UCSCuc001xwq.3. human. [Q9P0W8-1]
uc001xwr.3. human. [Q9P0W8-2]

Organism-specific databases

CTD55812.
GeneCardsGC14P088852.
GeneReviewsSPATA7.
HGNCHGNC:20423. SPATA7.
HPAHPA038082.
HPA038083.
MIM268000. phenotype.
604232. phenotype.
609868. gene.
neXtProtNX_Q9P0W8.
Orphanet65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBPA134907300.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG78294.
HOGENOMHOG000132972.
HOVERGENHBG055067.
InParanoidQ9P0W8.
OMAIKYADQQ.
OrthoDBEOG7NKKP7.
PhylomeDBQ9P0W8.
TreeFamTF330591.

Gene expression databases

ArrayExpressQ9P0W8.
BgeeQ9P0W8.
CleanExHS_SPATA7.
GenevestigatorQ9P0W8.

Family and domain databases

InterProIPR029357. SPATA7.
[Graphical view]
PfamPF15244. HSD3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSPATA7.
GenomeRNAi55812.
NextBio60980.
PROQ9P0W8.
SOURCESearch...

Entry information

Entry nameSPAT7_HUMAN
AccessionPrimary (citable) accession number: Q9P0W8
Secondary accession number(s): Q5BKY5 expand/collapse secondary AC list , Q8WX30, Q96HF3, Q9H0X0, Q9P0W7
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: September 26, 2003
Last modified: July 9, 2014
This is version 101 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM