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Q9P0W8

- SPAT7_HUMAN

UniProt

Q9P0W8 - SPAT7_HUMAN

Protein

Spermatogenesis-associated protein 7

Gene

SPATA7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 3 (26 Sep 2003)
      Previous versions | rss
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    Functioni

    May be involved in retinal function.

    GO - Biological processi

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

    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

    PaxDbiQ9P0W8.
    PRIDEiQ9P0W8.

    PTM databases

    PhosphoSiteiQ9P0W8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9P0W8.
    BgeeiQ9P0W8.
    CleanExiHS_SPATA7.
    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.
    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

    MDGSRRVRAT SVLPRYGPPC LFKGHLSTKS NAFCTDSSSL RLSTLQLVKN    50
    HMAVHYNKIL SAKAAVDCSV PVSVSTSIKY ADQQRREKLK KELAQCEKEF 100
    KLTKTAMRAN YKNNSKSLFN TLQKPSGEPQ IEDDMLKEEM NGFSSFARSL 150
    VPSSERLHLS LHKSSKVITN GPEKNSSSSP SSVDYAASGP RKLSSGALYG 200
    RRPRSTFPNS HRFQLVISKA PSGDLLDKHS ELFSNKQLPF TPRTLKTEAK 250
    SFLSQYRYYT PAKRKKDFTD QRIEAETQTE LSFKSELGTA ETKNMTDSEM 300
    NIKQASNCVT YDAKEKIAPL PLEGHDSTWD EIKDDALQHS SPRAMCQYSL 350
    KPPSTRKIYS DEEELLYLSF IEDVTDEILK LGLFSNRFLE RLFERHIKQN 400
    KHLEEEKMRH LLHVLKVDLG CTSEENSVKQ NDVDMLNVFD FEKAGNSEPN 450
    ELKNESEVTI QQERQQYQKA LDMLLSAPKD ENEIFPSPTE FFMPIYKSKH 500
    SEGVIIQQVN DETNLETSTL DENHPSISDS LTDRETSVNV IEGDSDPEKV 550
    EISNGLCGLN TSPSQSVQFS SVKGDNNHDM ELSTLKIMEM SIEDCPLDV 599
    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

    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 GC14P088852.
    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.
    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

    ArrayExpressi Q9P0W8.
    Bgeei Q9P0W8.
    CleanExi HS_SPATA7.
    Genevestigatori Q9P0W8.

    Family and domain databases

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

    Publicationsi

    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 1, 2014
    This is version 102 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