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 24-JAN-2024, entry version 120. 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}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 SMR; Q80VP2; -. DR BioGRID; 222721; 6. DR IntAct; Q80VP2; 33. DR STRING; 10090.ENSMUSP00000045827; -. DR iPTMnet; Q80VP2; -. DR PhosphoSitePlus; Q80VP2; -. DR PaxDb; 10090-ENSMUSP00000045827; -. DR ProteomicsDB; 257550; -. DR Antibodypedia; 26287; 174 antibodies from 26 providers. DR DNASU; 104871; -. DR Ensembl; ENSMUST00000048402.12; ENSMUSP00000045827.6; ENSMUSG00000021007.15. DR GeneID; 104871; -. DR KEGG; mmu:104871; -. DR UCSC; uc007ora.2; mouse. DR AGR; MGI:2144877; -. DR CTD; 55812; -. DR MGI; MGI:2144877; Spata7. DR VEuPathDB; HostDB:ENSMUSG00000021007; -. DR eggNOG; ENOG502QSVU; Eukaryota. DR GeneTree; ENSGT00390000014113; -. DR InParanoid; Q80VP2; -. DR OMA; FITEHEW; -. DR OrthoDB; 5356642at2759; -. DR PhylomeDB; Q80VP2; -. DR TreeFam; TF330591; -. DR BioGRID-ORCS; 104871; 1 hit in 76 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 181 other cell types or tissues. DR ExpressionAtlas; Q80VP2; baseline and differential. 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: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; SPERMATOGENESIS-ASSOCIATED PROTEIN 7; 1. DR PANTHER; PTHR14917:SF2; SPERMATOGENESIS-ASSOCIATED PROTEIN 7; 1. DR Pfam; PF15244; HSD3; 1. DR Genevisible; Q80VP2; MM. 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 //