PTHD3_MOUSE
ID PTHD3_MOUSE Reviewed; 906 AA.
AC Q0EEE2; A2AC39; Q9CUM1; Q9D3R2;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 1.
DT 03-AUG-2022, entry version 98.
DE RecName: Full=Patched domain-containing protein 3;
DE AltName: Full=RND-type protein RNDEu-3;
GN Name=Ptchd3;
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 [MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RA Hashimoto S., Yamaguchi A.;
RT "Identification of the novel RND-type protein in mice.";
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1-729 (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL
RP STAGE.
RX PubMed=17904097; DOI=10.1016/j.bbrc.2007.09.047;
RA Fan J., Akabane H., Zheng X., Zhou X., Zhang L., Liu Q., Zhang Y.-L.,
RA Yang J., Zhu G.-Z.;
RT "Male germ cell-specific expression of a novel patched-domain containing
RT gene Ptchd3.";
RL Biochem. Biophys. Res. Commun. 363:757-761(2007).
RN [5]
RP FUNCTION.
RX PubMed=34493359;
RA Gonzalez Morales S.R., Liu C., Blankenship H., Zhu G.Z.;
RT "Mouse Ptchd3 is a non-essential gene.";
RL Gene 763S:100032-100032(2020).
CC -!- FUNCTION: May play a role in sperm development or sperm function
CC (PubMed:17904097). However, does not appear to have an essential role
CC in spermatogenesis or male fertility (PubMed:34493359).
CC {ECO:0000269|PubMed:17904097, ECO:0000269|PubMed:34493359}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
CC {ECO:0000269|PubMed:17904097}; Multi-pass membrane protein
CC {ECO:0000255}. Endoplasmic reticulum membrane
CC {ECO:0000250|UniProtKB:Q3KNS1}; Multi-pass membrane protein
CC {ECO:0000255}. Note=Localizes to the midpiece of the sperm tail.
CC {ECO:0000269|PubMed:17904097}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=Ptchd3b;
CC IsoId=Q0EEE2-1; Sequence=Displayed;
CC Name=2; Synonyms=Ptchd3a;
CC IsoId=Q0EEE2-2; Sequence=VSP_029100, VSP_029101;
CC -!- TISSUE SPECIFICITY: Expressed in germ cells of the testis (at protein
CC level). {ECO:0000269|PubMed:17904097}.
CC -!- DEVELOPMENTAL STAGE: Expression begins around the pachytene stage of
CC spermatogenesis. {ECO:0000269|PubMed:17904097}.
CC -!- SIMILARITY: Belongs to the patched family. {ECO:0000305}.
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DR EMBL; AB235902; BAF32146.1; -; mRNA.
DR EMBL; AK015440; BAB29848.1; -; mRNA.
DR EMBL; AK017136; BAB30614.1; -; mRNA.
DR EMBL; AL663041; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS49014.1; -. [Q0EEE2-1]
DR RefSeq; NP_083325.1; NM_029049.1. [Q0EEE2-1]
DR AlphaFoldDB; Q0EEE2; -.
DR SMR; Q0EEE2; -.
DR STRING; 10090.ENSMUSP00000035709; -.
DR GlyGen; Q0EEE2; 2 sites.
DR iPTMnet; Q0EEE2; -.
DR PhosphoSitePlus; Q0EEE2; -.
DR PaxDb; Q0EEE2; -.
DR PRIDE; Q0EEE2; -.
DR ProteomicsDB; 291625; -. [Q0EEE2-1]
DR ProteomicsDB; 291626; -. [Q0EEE2-2]
DR Ensembl; ENSMUST00000036690; ENSMUSP00000035709; ENSMUSG00000039198. [Q0EEE2-1]
DR GeneID; 74675; -.
DR KEGG; mmu:74675; -.
DR UCSC; uc007mwf.2; mouse. [Q0EEE2-1]
DR CTD; 374308; -.
DR MGI; MGI:1921925; Ptchd3.
DR VEuPathDB; HostDB:ENSMUSG00000039198; -.
DR eggNOG; KOG1935; Eukaryota.
DR GeneTree; ENSGT00940000158727; -.
DR HOGENOM; CLU_002359_2_1_1; -.
DR InParanoid; Q0EEE2; -.
DR OMA; MWHITFF; -.
DR OrthoDB; 210960at2759; -.
DR PhylomeDB; Q0EEE2; -.
DR TreeFam; TF331806; -.
DR BioGRID-ORCS; 74675; 3 hits in 73 CRISPR screens.
DR PRO; PR:Q0EEE2; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q0EEE2; protein.
DR Bgee; ENSMUSG00000039198; Expressed in spermatocyte and 6 other tissues.
DR Genevisible; Q0EEE2; MM.
DR GO; GO:0005783; C:endoplasmic reticulum; ISS:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-KW.
DR GO; GO:0097225; C:sperm midpiece; IDA:MGI.
DR InterPro; IPR003392; Ptc/Disp.
DR InterPro; IPR000731; SSD.
DR Pfam; PF02460; Patched; 1.
DR PROSITE; PS50156; SSD; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Cilium;
KW Endoplasmic reticulum; Flagellum; Glycoprotein; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..906
FT /note="Patched domain-containing protein 3"
FT /id="PRO_0000309263"
FT TRANSMEM 338..358
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 370..390
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 392..412
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 442..462
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 476..496
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 559..579
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 760..780
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 782..802
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 814..834
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 848..868
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 883..903
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 339..496
FT /note="SSD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00199"
FT REGION 1..70
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 12..33
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 148
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 235
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 410
FT /note="V -> E (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_029100"
FT VAR_SEQ 411..906
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_029101"
SQ SEQUENCE 906 AA; 101813 MW; DFCB9B3497766E5B CRC64;
MISSKVAPGE EEQGESPSKV ELGEAEEQRE APLEGQLEAV PLDEAGPSWT TGPPLERLPP
LGQEAPPPRR CHTNCLEAPL SRGFQRFGAT VGANPWLFLL GPALLTASLG TGLIFLPKEK
ENLEEQYTPI GSPAKAERRF VQGHFSTNDT YRFSASRTSS ETNFASILVV SLANSLLEPE
IFKEVSKLDQ AVQALKVVQE NGTQILYQEV CAKYKTLCVP PNPLLFSWQH NSSLNLSDLT
FPIHNTPTQL IYLAGFFGGN VLGQMTGKSQ RLVESRAMRL LYYLKTEDPE DSERSQAWLT
HFLDHFNDMK SSLTLEEIEV VYFSSLSRQL EFEATSKTVI PLFHLAYILI ILFAVVSCSR
LDCIRNKMCV AVFGVFSVAM SVVSGFGLML HLGVPFVIIV ANSPFLILGV GVDDMFIMIS
AWQKTSLSES IRERLSNSYS KVAVSITITT ITNVLAFYTG ITSSFRSVQY FCIYTGTTLL
FCYFYSITCF GAVMALDGKR EVAWSRWLEK PDQKYSSLKK SCCVPFGSLI DKHGEDNHPM
NLFFRDYFGP FLTTSKAKFI VVLLYIFYII SSIYGCFQVQ EGLDLRNLAS DDSYITPYFN
VEEDYFSDYG PRVMVIVTES VNYWDNDVRQ KLDKCMTQFE ENEYVDKNLT EFWLEAYMQY
MNSSGNNPND KNTFMNNIAG FLQFFPIFTY DINISSSNEI TSSRGFIQIV DVSSSSNKKR
MLLKLRSIAE NCEVPLMVYN QAFIYFDQYA AIIENTVRNV MIASTAMFIV SLLLIPHPVC
SLWVTFAIAS VIVGVTGFMA FWNVNLDSIS MINLVICIGF SFDFSAHISY AFVSSTEPSV
NKKSIEALYL LGYPVLQSAI STIIGVCVLS AAKAYIFRTF FKIMFLVMFF GAAHGLIFIP
VFLTFF
