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Q9P0W8

- SPAT7_HUMAN

UniProt

Q9P0W8 - SPAT7_HUMAN

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Protein

Spermatogenesis-associated protein 7

Gene

SPATA7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

Functioni

May be involved in retinal function.

GO - Biological processi

  1. response to stimulus Source: UniProtKB-KW
  2. visual perception Source: UniProtKB-KW
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: Chromosome 14

Organism-specific databases

HGNCiHGNC:20423. SPATA7.

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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) [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.

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.

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.
GenevestigatoriQ9P0W8.

Organism-specific databases

HPAiHPA038082.
HPA038083.

Interactioni

Protein-protein interaction databases

BioGridi120922. 1 interaction.
IntActiQ9P0W8. 1 interaction.
MINTiMINT-4725495.
STRINGi9606.ENSP00000377176.

Structurei

3D structure databases

ProteinModelPortaliQ9P0W8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG78294.
GeneTreeiENSGT00390000014113.
HOGENOMiHOG000132972.
HOVERGENiHBG055067.
InParanoidiQ9P0W8.
OMAiIKYADQQ.
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. Align

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:
EMBL
GenBank
DDBJ
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.
UCSCiuc001xwq.3. human. [Q9P0W8-1]
uc001xwr.3. human. [Q9P0W8-2]

Polymorphism databases

DMDMi37089915.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS32132.1. [Q9P0W8-2 ]
CCDS9883.1. [Q9P0W8-1 ]
RefSeqi NP_001035518.1. NM_001040428.3. [Q9P0W8-2 ]
NP_060888.2. NM_018418.4. [Q9P0W8-1 ]
UniGenei Hs.525518.

3D structure databases

ProteinModelPortali Q9P0W8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120922. 1 interaction.
IntActi Q9P0W8. 1 interaction.
MINTi MINT-4725495.
STRINGi 9606.ENSP00000377176.

PTM databases

PhosphoSitei Q9P0W8.

Polymorphism databases

DMDMi 37089915.

Proteomic databases

MaxQBi Q9P0W8.
PaxDbi Q9P0W8.
PRIDEi Q9P0W8.

Protocols and materials databases

DNASUi 55812.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000045347 ; ENSP00000045347 ; ENSG00000042317 . [Q9P0W8-3 ]
ENST00000356583 ; ENSP00000348991 ; ENSG00000042317 . [Q9P0W8-2 ]
ENST00000393545 ; ENSP00000377176 ; ENSG00000042317 . [Q9P0W8-1 ]
ENST00000556553 ; ENSP00000451128 ; ENSG00000042317 . [Q9P0W8-2 ]
GeneIDi 55812.
KEGGi hsa:55812.
UCSCi uc001xwq.3. human. [Q9P0W8-1 ]
uc001xwr.3. human. [Q9P0W8-2 ]

Organism-specific databases

CTDi 55812.
GeneCardsi GC14P088897.
GeneReviewsi SPATA7.
HGNCi HGNC:20423. SPATA7.
HPAi HPA038082.
HPA038083.
MIMi 268000. phenotype.
604232. phenotype.
609868. gene.
neXtProti NX_Q9P0W8.
Orphaneti 65. Leber congenital amaurosis.
791. Retinitis pigmentosa.
364055. Severe early-childhood-onset retinal dystrophy.
PharmGKBi PA134907300.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG78294.
GeneTreei ENSGT00390000014113.
HOGENOMi HOG000132972.
HOVERGENi HBG055067.
InParanoidi Q9P0W8.
OMAi IKYADQQ.
OrthoDBi EOG7NKKP7.
PhylomeDBi Q9P0W8.
TreeFami TF330591.

Miscellaneous databases

GeneWikii SPATA7.
GenomeRNAii 55812.
NextBioi 60980.
PROi Q9P0W8.
SOURCEi Search...

Gene expression databases

Bgeei Q9P0W8.
CleanExi HS_SPATA7.
ExpressionAtlasi Q9P0W8. baseline and differential.
Genevestigatori Q9P0W8.

Family and domain databases

InterProi IPR029357. SPATA7.
[Graphical view ]
Pfami PF15244. HSD3. 1 hit.
[Graphical view ]
ProtoNeti Search...

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, 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.

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: October 29, 2014
This is version 103 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