SPAT7_MOUSE
ID SPAT7_MOUSE Reviewed; 582 AA.
AC Q80VP2; Q8BK23;
DT 26-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Spermatogenesis-associated protein 7 homolog;
GN Name=Spata7;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Embryo;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Olfactory epithelium;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP TISSUE SPECIFICITY.
RX PubMed=19268277; DOI=10.1016/j.ajhg.2009.02.005;
RA Wang H., den Hollander A.I., Moayedi Y., Abulimiti A., Li Y.,
RA Collin R.W.J., Hoyng C.B., Lopez I., Bray M., Lewis R.A., Lupski J.R.,
RA Mardon G., Koenekoop R.K., Chen R.;
RT "Mutations in SPATA7 cause Leber congenital amaurosis and juvenile
RT retinitis pigmentosa.";
RL Am. J. Hum. Genet. 84:380-387(2009).
RN [4]
RP FUNCTION, INTERACTION WITH RPGRIP1, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND DISRUPTION PHENOTYPE.
RX PubMed=25398945; DOI=10.1093/hmg/ddu573;
RA Eblimit A., Nguyen T.M., Chen Y., Esteve-Rudd J., Zhong H., Letteboer S.,
RA van Reeuwijk J., Simons D.L., Ding Q., Wu K.M., Li Y., van Beersum S.,
RA Moayedi Y., Xu H., Pickard P., Wang K., Gan L., Wu S.M., Williams D.S.,
RA Mardon G., Roepman R., Chen R.;
RT "Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1
RT localization and protein trafficking in the retina.";
RL Hum. Mol. Genet. 24:1584-1601(2015).
RN [5]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=29100828; DOI=10.1016/j.exer.2017.10.015;
RA Eblimit A., Agrawal S.A., Thomas K., Anastassov I.A., Abulikemu T.,
RA Mardon G., Chen R.;
RT "Conditional loss of Spata7 in photoreceptors causes progressive retinal
RT degeneration in mice.";
RL Exp. Eye Res. 166:120-130(2018).
RN [6]
RP FUNCTION, INTERACTION WITH RPGR; RPGRIP1; NPHP4; NPHP1 AND AHI1,
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DISRUPTION PHENOTYPE.
RX PubMed=29899041; DOI=10.1083/jcb.201712117;
RA Dharmat R., Eblimit A., Robichaux M.A., Zhang Z., Nguyen T.T., Jung S.Y.,
RA He F., Jain A., Li Y., Qin J., Overbeek P., Roepman R., Mardon G.,
RA Wensel T.G., Chen R.;
RT "SPATA7 maintains a novel photoreceptor-specific zone in the distal
RT connecting cilium.";
RL J. Cell Biol. 217:2851-2865(2018).
CC -!- FUNCTION: Involved in the maintenance of both rod and cone
CC photoreceptor cells (PubMed:25398945, PubMed:29100828,
CC PubMed:29899041). Required for photoreceptor-specific localization of
CC proximal connecting cilium (CC) proteins RPGR, AHI1, NPHP1, NPHP4, and
CC RPGRIP1 at the distal CC, a photoreceptor-specific extension of the
CC primary cilium transition zone (PubMed:25398945, PubMed:29100828,
CC PubMed:29899041). Maintenance of protein localization at the
CC photoreceptor-specific distal CC is essential for normal microtubule
CC stability and to prevent photoreceptor degeneration (PubMed:25398945,
CC PubMed:29899041). {ECO:0000269|PubMed:25398945,
CC ECO:0000269|PubMed:29100828, ECO:0000269|PubMed:29899041}.
CC -!- SUBUNIT: Found in a complex with CFAP410, NEK1 and SPATA7 (By
CC similarity). Interacts with NEK1 (By similarity). Interacts with
CC RPGRIP1 (PubMed:25398945, PubMed:29899041). Interacts with RPGR
CC (PubMed:29899041). Interacts with NPHP4 (PubMed:29899041). Interacts
CC with NPHP1 (PubMed:29899041). Interacts with AHI1 (PubMed:29899041).
CC {ECO:0000250|UniProtKB:Q9P0W8, ECO:0000269|PubMed:25398945,
CC ECO:0000269|PubMed:29899041}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:29899041}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000269|PubMed:29100828, ECO:0000269|PubMed:29899041}.
CC Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9P0W8}. Cell
CC projection, cilium, photoreceptor outer segment
CC {ECO:0000269|PubMed:25398945, ECO:0000269|PubMed:29100828,
CC ECO:0000269|PubMed:29899041}. Note=Localizes to the microtubule
CC network. {ECO:0000250|UniProtKB:Q9P0W8}.
CC -!- TISSUE SPECIFICITY: Expressed in the retina (at protein level)
CC (PubMed:19268277, PubMed:29100828, PubMed:29899041). Expressed in the
CC choroid region and retinal pigment endothelium, within the
CC photoreceptor layer (at protein level) (PubMed:25398945,
CC PubMed:29100828, PubMed:29899041). {ECO:0000269|PubMed:19268277,
CC ECO:0000269|PubMed:25398945, ECO:0000269|PubMed:29100828,
CC ECO:0000269|PubMed:29899041}.
CC -!- DISRUPTION PHENOTYPE: Viable and fertile with no gross morphological
CC abnormalities (PubMed:25398945). Knockout mice show severe early-onset
CC retinal defects and progressive photoreceptor cell degeneration
CC (PubMed:25398945). Significant and progressive reduction in response to
CC light, accompanied by progressive thinning of the outer nuclear layer
CC from P15 to 7 months, loss of Spata7-interacting proteins at the distal
CC CC, and destabilization of the photoreceptor distal connecting cilium
CC (CC) microtubule core (PubMed:25398945, PubMed:29899041). Impaired
CC trafficking of photoreceptor proteins between the inner and outer
CC nuclear segments resulting in loss of photoreceptor-specific protein
CC localization at the distal CC (PubMed:25398945). Conditional knockdown
CC of Spata7 in the retina shows an indistinguishable phenotype from
CC knockout mice (PubMed:29100828). Electroretinogram (ERG) recordings
CC show a significant and progressive reduction in response to light under
CC scotopic (dark-adapted) and photopic (light-adapted) conditions
CC (PubMed:29100828). Amplitude of both a-wave and b-wave responses is
CC reduced indicating defects in both rod and cone type photoreceptors
CC (PubMed:29100828). {ECO:0000269|PubMed:25398945,
CC ECO:0000269|PubMed:29100828, ECO:0000269|PubMed:29899041}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC36832.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK077500; BAC36832.1; ALT_INIT; mRNA.
DR EMBL; BC046960; AAH46960.1; -; mRNA.
DR CCDS; CCDS26097.1; -.
DR RefSeq; NP_849245.2; NM_178914.4.
DR RefSeq; XP_011242281.1; XM_011243979.2.
DR AlphaFoldDB; Q80VP2; -.
DR BioGRID; 222721; 6.
DR IntAct; Q80VP2; 33.
DR STRING; 10090.ENSMUSP00000045827; -.
DR iPTMnet; Q80VP2; -.
DR PhosphoSitePlus; Q80VP2; -.
DR PaxDb; Q80VP2; -.
DR PRIDE; Q80VP2; -.
DR ProteomicsDB; 257550; -.
DR Antibodypedia; 26287; 151 antibodies from 26 providers.
DR DNASU; 104871; -.
DR Ensembl; ENSMUST00000048402; ENSMUSP00000045827; ENSMUSG00000021007.
DR GeneID; 104871; -.
DR KEGG; mmu:104871; -.
DR UCSC; uc007ora.2; mouse.
DR CTD; 55812; -.
DR MGI; MGI:2144877; Spata7.
DR VEuPathDB; HostDB:ENSMUSG00000021007; -.
DR eggNOG; ENOG502QSVU; Eukaryota.
DR GeneTree; ENSGT00390000014113; -.
DR InParanoid; Q80VP2; -.
DR OMA; NTKQASN; -.
DR OrthoDB; 1379215at2759; -.
DR PhylomeDB; Q80VP2; -.
DR TreeFam; TF330591; -.
DR BioGRID-ORCS; 104871; 1 hit in 71 CRISPR screens.
DR ChiTaRS; Spata7; mouse.
DR PRO; PR:Q80VP2; -.
DR Proteomes; UP000000589; Chromosome 12.
DR RNAct; Q80VP2; protein.
DR Bgee; ENSMUSG00000021007; Expressed in spermatid and 179 other tissues.
DR ExpressionAtlas; Q80VP2; baseline and differential.
DR Genevisible; Q80VP2; MM.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0015630; C:microtubule cytoskeleton; ISS:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IDA:UniProtKB.
DR GO; GO:0120206; C:photoreceptor distal connecting cilium; IDA:MGI.
DR GO; GO:0120200; C:rod photoreceptor outer segment; IMP:MGI.
DR GO; GO:0000226; P:microtubule cytoskeleton organization; IMP:MGI.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IMP:UniProtKB.
DR GO; GO:1903621; P:protein localization to photoreceptor connecting cilium; IMP:UniProtKB.
DR GO; GO:1903546; P:protein localization to photoreceptor outer segment; IMP:UniProtKB.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR InterPro; IPR029357; SPATA7.
DR PANTHER; PTHR14917; PTHR14917; 1.
DR Pfam; PF15244; HSD3; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cytoplasm; Cytoskeleton; Reference proteome;
KW Sensory transduction; Vision.
FT CHAIN 1..582
FT /note="Spermatogenesis-associated protein 7 homolog"
FT /id="PRO_0000072105"
FT REGION 167..192
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 251..289
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 167..183
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 261..289
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 582 AA; 65655 MW; 414A6A684A421DF5 CRC64;
MDGSRRVRAT SVLPRYSPPC LFTGHLSTKS NAFCTDSSSL RLSTLQLVKN HMAIHYNKIL
SAKAAVDCSI PVSVNTSIKY ADQQRREKLR KELARCEKEF KLSKSAMQTN SKMNSKFFVN
SLQKPSGEPQ DQDVFIEEMT RYPSFSKSLI PSSEGLHLSL PESSKMLMSG TQKHASTSPS
RHSGCGHGCD RRPRSAHQFQ VALAKTPSGD LLEKHSDLFS NKQSPFTPRT LKTEAKSFLS
QYRYYTPAKR RKDFSDQRME AETQTELSSF NSELGTAEKT SSKDSEVNIN QVPNYTRNGA
EDKIAPLPSQ GQNLAWDSIQ DGILQQSSER ASCKLSTEFS PDSKIYSDEE ELLYLSFMEN
VTDEILKLGL FSNRFLERLF ERHIKKNKHH LEEGKMRYLL HGLKVDLGCI SEEDPAKQKH
FRMLNQLHFQ KALISRENEF VSDEETVSHH ERQQYQEALD MLSAVPKDEN KMFSLPGEFL
IPAHKVKHSE GVIIQQVNDE TDNEASPWNE NNPSVSDSVI DQETSVDVIE GDSDFERAET
SRELCCLSTS LSPSGPFPSI NGGSNHGKEL STLRIMGMSI ED
