Q9P0W8 (SPAT7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Spermatogenesis-associated protein 7

Alternative name(s):
HSD-3.1
Spermatogenesis-associated protein HSD3

Gene names

Name:	SPATA7
Synonyms:	HSD3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	599 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Sensory transduction Vision
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Leber congenital amaurosis Retinitis pigmentosa
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	response 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 599	599	Spermatogenesis-associated protein 7		PRO_0000072104
Natural variations
	Alternative sequence	32 – 63	32	Missing in isoform 2.		VSP_008341
	Alternative sequence	428 – 568	141	Missing in isoform 3.		VSP_008342
	Natural variant	2	1	D → N. Corresponds to variant rs4904448 [ dbSNP | Ensembl ].		VAR_051370
	Natural variant	74	1	V → M. Ref.1 Ref.2 Corresponds to variant rs3179969 [ dbSNP | Ensembl ].		VAR_016912
	Natural variant	119	1	F → L. Corresponds to variant rs35137272 [ dbSNP | Ensembl ].		VAR_051371
	Natural variant	165	1	S → N. Corresponds to variant rs17124662 [ dbSNP | Ensembl ].		VAR_051372
	Natural variant	324	1	G → E. Corresponds to variant rs17124677 [ dbSNP | Ensembl ].		VAR_051373
	Natural variant	332	1	I → T Found in a patient with LCA3. Ref.7		VAR_067191
	Natural variant	534	1	R → Q. Corresponds to variant rs10139784 [ dbSNP | Ensembl ].		VAR_051374
Experimental info
	Sequence conflict	124	1	K → E in CAB66539. Ref.2
	Sequence conflict	217	1	I → T in AAF66077. Ref.3
	Sequence conflict	305	1	A → AA in AAF66078. Ref.1
	Sequence conflict	405	1	E → G in CAB66539. Ref.2
	Sequence conflict	451	1	E → K in CAB66539. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 26, 2003. Version 3. Checksum: DEED7B4D732CC74F	FASTA	599	67,719
	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
	Isoform 2 [UniParc]. Checksum: C5E1B8AD089ABEE4	FASTA	567	64,160
	10 20 30 40 50 60 MDGSRRVRAT SVLPRYGPPC LFKGHLSTKS NAAVDCSVPV SVSTSIKYAD QQRREKLKKE 70 80 90 100 110 120 LAQCEKEFKL TKTAMRANYK NNSKSLFNTL QKPSGEPQIE DDMLKEEMNG FSSFARSLVP 130 140 150 160 170 180 SSERLHLSLH KSSKVITNGP EKNSSSSPSS VDYAASGPRK LSSGALYGRR PRSTFPNSHR 190 200 210 220 230 240 FQLVISKAPS GDLLDKHSEL FSNKQLPFTP RTLKTEAKSF LSQYRYYTPA KRKKDFTDQR 250 260 270 280 290 300 IEAETQTELS FKSELGTAET KNMTDSEMNI KQASNCVTYD AKEKIAPLPL EGHDSTWDEI 310 320 330 340 350 360 KDDALQHSSP RAMCQYSLKP PSTRKIYSDE EELLYLSFIE DVTDEILKLG LFSNRFLERL 370 380 390 400 410 420 FERHIKQNKH LEEEKMRHLL HVLKVDLGCT SEENSVKQND VDMLNVFDFE KAGNSEPNEL 430 440 450 460 470 480 KNESEVTIQQ ERQQYQKALD MLLSAPKDEN EIFPSPTEFF MPIYKSKHSE GVIIQQVNDE 490 500 510 520 530 540 TNLETSTLDE NHPSISDSLT DRETSVNVIE GDSDPEKVEI SNGLCGLNTS PSQSVQFSSV 550 560 KGDNNHDMEL STLKIMEMSI EDCPLDV
	Isoform 3 [UniParc]. Checksum: D42B8D20120FC796	FASTA	458	51,931
	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 CTSEENSFSS VKGDNNHDME LSTLKIMEMS IEDCPLDV

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00376956. IPI00376957. IPI00414240.
RefSeq	NP_001035518.1. NM_001040428.3. NP_060888.2. NM_018418.4.
UniGene	Hs.525518.
3D structure databases
ProteinModelPortal	Q9P0W8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9P0W8. 1 interaction.
MINT	MINT-4725495.
STRING	9606.ENSP00000377176.
PTM databases
PhosphoSite	Q9P0W8.
Polymorphism databases
DMDM	37089915.
Proteomic databases
PaxDb	Q9P0W8.
PRIDE	Q9P0W8.
Protocols and materials databases
DNASU	55812.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000045347; ENSP00000045347; ENSG00000042317. ENST00000356583; ENSP00000348991; ENSG00000042317. ENST00000393545; ENSP00000377176; ENSG00000042317. ENST00000556553; ENSP00000451128; ENSG00000042317.
GeneID	55812.
KEGG	hsa:55812.
UCSC	uc001xwq.3. human. uc001xwr.3. human.
Organism-specific databases
CTD	55812.
GeneCards	GC14P088852.
HGNC	HGNC:20423. SPATA7.
HPA	HPA038082. HPA038083.
MIM	268000. phenotype. 604232. phenotype. 609868. gene.
neXtProt	NX_Q9P0W8.
Orphanet	65. Leber congenital amaurosis. 791. Retinitis pigmentosa.
PharmGKB	PA134907300.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG78294.
HOGENOM	HOG000132972.
HOVERGEN	HBG055067.
InParanoid	Q9P0W8.
OMA	IKYADQQ.
PhylomeDB	Q9P0W8.
Gene expression databases
ArrayExpress	Q9P0W8.
Bgee	Q9P0W8.
CleanEx	HS_SPATA7.
Genevestigator	Q9P0W8.
GermOnline	ENSG00000042317. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	55812.
NextBio	60980.
SOURCE	Search...

Entry information

Entry name

SPAT7_HUMAN

Accession

Primary (citable) accession number: Q9P0W8
Secondary accession number(s): Q5BKY5 , Q8WX30, Q96HF3, Q9H0X0, Q9P0W7

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2003
Last sequence update:	September 26, 2003
Last modified:	May 29, 2013
This is version 92 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.