CTSRD_HUMAN
ID CTSRD_HUMAN Reviewed; 798 AA.
AC Q86XM0; Q6ZRP1;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-MAY-2007, sequence version 3.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Cation channel sperm-associated auxiliary subunit delta {ECO:0000312|HGNC:HGNC:28598};
DE Short=CatSper-delta;
DE Short=CatSperdelta;
DE AltName: Full=Transmembrane protein 146;
DE Flags: Precursor;
GN Name=CATSPERD {ECO:0000312|HGNC:HGNC:28598}; Synonyms=TMEM146;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ALA-504.
RC TISSUE=Testis;
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).
CC -!- FUNCTION: Auxiliary component of the CatSper complex, a complex
CC involved in sperm cell hyperactivation. Sperm cell hyperactivation is
CC needed for sperm motility which is essential late in the preparation of
CC sperm for fertilization. Required for CATSPER1 stability before
CC intraflagellar transport and/or incorporation of the CatSper complex
CC channel into the flagellar membrane. {ECO:0000250|UniProtKB:E9Q9F6}.
CC -!- SUBUNIT: Component of the CatSper complex or CatSpermasome composed of
CC the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4
CC as well as auxiliary members CATSPERB, CATSPERG, CATSPERD, CATSPERE,
CC CATSPERZ, C2CD6/CATSPERT, TMEM249, TMEM262 and EFCAB9 (By similarity).
CC HSPA1 may be an additional auxiliary complex member (By similarity).
CC The core complex members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 form
CC a heterotetrameric channel. The auxiliary CATSPERB, CATSPERG, CATSPERD
CC and CATSPERE subunits form a pavilion-like structure over the pore
CC which stabilizes the complex through interactions with CATSPER4,
CC CATSPER3, CATSPER1 and CATSPER2 respectively. TMEM262/CATSPERH
CC interacts with CATSPERB, further stabilizing the complex.
CC C2CD6/CATSPERT interacts at least with CATSPERD and is required for
CC targeting the CatSper complex in the flagellar membrane (By
CC similarity). {ECO:0000250|UniProtKB:E9Q9F6,
CC ECO:0000250|UniProtKB:Q91ZR5}.
CC -!- INTERACTION:
CC Q86XM0; Q9Y5Z0: BACE2; NbExp=3; IntAct=EBI-10260328, EBI-11282723;
CC Q86XM0; Q92876: KLK6; NbExp=3; IntAct=EBI-10260328, EBI-2432309;
CC Q86XM0; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-10260328, EBI-739832;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
CC {ECO:0000250|UniProtKB:E9Q9F6}; Single-pass type I membrane protein
CC {ECO:0000255}. Note=Specifically located in the principal piece of
CC sperm tail. {ECO:0000250|UniProtKB:E9Q9F6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86XM0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86XM0-2; Sequence=VSP_025344, VSP_025345, VSP_025346;
CC -!- SIMILARITY: Belongs to the CATSPERD family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-5 is the initiator.
CC {ECO:0000305}.
CC -!- CAUTION: In mouse, Slco6c1 is an additional auxiliary subunit of the
CC CatSper complex. It is unclear if the related SLCO6A1 protein performs
CC the same role in non-rodent species. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH43005.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK128088; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC011499; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC043005; AAH43005.2; ALT_INIT; mRNA.
DR CCDS; CCDS12149.2; -. [Q86XM0-1]
DR RefSeq; NP_689997.3; NM_152784.3. [Q86XM0-1]
DR AlphaFoldDB; Q86XM0; -.
DR SMR; Q86XM0; -.
DR BioGRID; 129194; 15.
DR IntAct; Q86XM0; 4.
DR STRING; 9606.ENSP00000371037; -.
DR TCDB; 1.A.1.19.1; the voltage-gated ion channel (vic) superfamily.
DR GlyGen; Q86XM0; 3 sites.
DR iPTMnet; Q86XM0; -.
DR PhosphoSitePlus; Q86XM0; -.
DR BioMuta; CATSPERD; -.
DR DMDM; 147734568; -.
DR MassIVE; Q86XM0; -.
DR PaxDb; Q86XM0; -.
DR PeptideAtlas; Q86XM0; -.
DR PRIDE; Q86XM0; -.
DR ProteomicsDB; 70298; -. [Q86XM0-1]
DR ProteomicsDB; 70299; -. [Q86XM0-2]
DR Antibodypedia; 11727; 51 antibodies from 16 providers.
DR DNASU; 257062; -.
DR Ensembl; ENST00000381624.4; ENSP00000371037.3; ENSG00000174898.16. [Q86XM0-1]
DR GeneID; 257062; -.
DR KEGG; hsa:257062; -.
DR MANE-Select; ENST00000381624.4; ENSP00000371037.3; NM_152784.4; NP_689997.3.
DR UCSC; uc002mda.4; human. [Q86XM0-1]
DR CTD; 257062; -.
DR GeneCards; CATSPERD; -.
DR HGNC; HGNC:28598; CATSPERD.
DR HPA; ENSG00000174898; Tissue enriched (testis).
DR MIM; 617490; gene.
DR neXtProt; NX_Q86XM0; -.
DR OpenTargets; ENSG00000174898; -.
DR PharmGKB; PA144596254; -.
DR VEuPathDB; HostDB:ENSG00000174898; -.
DR eggNOG; ENOG502QSPE; Eukaryota.
DR GeneTree; ENSGT00940000162714; -.
DR HOGENOM; CLU_019182_0_0_1; -.
DR InParanoid; Q86XM0; -.
DR OMA; QDNYSFI; -.
DR OrthoDB; 213907at2759; -.
DR PhylomeDB; Q86XM0; -.
DR TreeFam; TF337973; -.
DR PathwayCommons; Q86XM0; -.
DR Reactome; R-HSA-1300642; Sperm Motility And Taxes.
DR SignaLink; Q86XM0; -.
DR BioGRID-ORCS; 257062; 19 hits in 1067 CRISPR screens.
DR ChiTaRS; CATSPERD; human.
DR GenomeRNAi; 257062; -.
DR Pharos; Q86XM0; Tdark.
DR PRO; PR:Q86XM0; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q86XM0; protein.
DR Bgee; ENSG00000174898; Expressed in bronchial epithelial cell and 95 other tissues.
DR Genevisible; Q86XM0; HS.
DR GO; GO:0036128; C:CatSper complex; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0097228; C:sperm principal piece; ISS:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0048240; P:sperm capacitation; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR InterPro; IPR028751; CATSPERD/E.
DR PANTHER; PTHR33722; PTHR33722; 1.
DR Pfam; PF15020; CATSPERD; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Cilium;
KW Developmental protein; Differentiation; Disulfide bond; Flagellum;
KW Glycoprotein; Membrane; Reference proteome; Signal; Spermatogenesis;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..798
FT /note="Cation channel sperm-associated auxiliary subunit
FT delta"
FT /id="PRO_0000287150"
FT TOPO_DOM 21..723
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:E9Q9F6"
FT TRANSMEM 724..745
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:E9Q9F6"
FT TOPO_DOM 746..798
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:E9Q9F6"
FT CARBOHYD 123
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 230
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 240
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 472
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 538
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 630
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 23..369
FT /evidence="ECO:0000250|UniProtKB:E9Q9F6"
FT DISULFID 59..145
FT /evidence="ECO:0000250|UniProtKB:E9Q9F6"
FT DISULFID 144..152
FT /evidence="ECO:0000250|UniProtKB:E9Q9F6"
FT DISULFID 387..496
FT /evidence="ECO:0000250|UniProtKB:E9Q9F6"
FT DISULFID 510..701
FT /evidence="ECO:0000250|UniProtKB:E9Q9F6"
FT DISULFID 525..572
FT /evidence="ECO:0000250|UniProtKB:E9Q9F6"
FT DISULFID 624..652
FT /evidence="ECO:0000250|UniProtKB:E9Q9F6"
FT VAR_SEQ 1..342
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025344"
FT VAR_SEQ 589..700
FT /note="WRKDSFQEVIDAEYVLLEVNGQFSYSYSLTAQSAMCTSQPQNWTTMIKEFGG
FT PFFWNRENYVSCHDPNNNAPLRWPDVQYQILGGRTANQIIFGHNGFYVFYISIVDPYYS
FT Y -> LECSGMNTVHCSLNLPGSSGPPASASQVAGTAVAYHNARLIFFFFFFFFLRQSL
FT ALSPRLECSGVILAHRKLRLPGSRHSPASASRVAGITGARHCARLIFFIFSRDRVSPC
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025345"
FT VAR_SEQ 701..798
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025346"
FT VARIANT 212
FT /note="M -> T (in dbSNP:rs57680462)"
FT /id="VAR_061714"
FT VARIANT 504
FT /note="T -> A (in dbSNP:rs17854252)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_032270"
FT VARIANT 743
FT /note="T -> S (in dbSNP:rs2305925)"
FT /id="VAR_032271"
SQ SEQUENCE 798 AA; 90468 MW; 2BB506703AA9A417 CRC64;
MLMLMLVAAV TMWLRPLVTA QLCRSRTVRT GKVFNLIQDV QGDRLYFHPT TTRLIKHPCE
KNIALYLGKQ VFFTMDNFET SLLPFTIPTS MQVGVPEVTS AHFAGSLLLL VVDQKVYIYD
YENNSWSMSL GIKHPVTHVS GDNCCYTGSL FCVHVSNLVF AYFRGDQISQ TYIYYSNTGG
FSFWKYHYDR QAEIIGSLGG IFHFFSLSQV AMLVVNQGKG MFKYSDHPLN RSFGLSFDYN
GTLDILIAPG QRGILLLWFE NSLLFSHNAG QLVDTVRVKK GDQTLFSSIF EAKITIHNIA
VTENELAVIT REDNLYYGNL GIVPSSIIKF ADQYIWSEDV ALMFRSPGTL EILTPLRDTA
FPAFDFQKCL VNIQALLMDP ELHVGKCKIE FLTGEFIYRM YTIDMHSQLE LTASLIPQPG
TSLIPLVMVS NPHSLGFQAT FYENGYTSDG NTKYKLDIFL KQQQHWGRTD SNFTSSLKKA
TMSTLTVDIA NKEISCVDIK PLSTLISVGC DLDKKIVIQN KVSACSMGIL DPLTLQDNYS
FIIEKEFYDP GFQGQQSSED LHVFYSYQQL GCPLLVYYDT LWKPVVELWR KDSFQEVIDA
EYVLLEVNGQ FSYSYSLTAQ SAMCTSQPQN WTTMIKEFGG PFFWNRENYV SCHDPNNNAP
LRWPDVQYQI LGGRTANQII FGHNGFYVFY ISIVDPYYSY CQLETIFSIY VYGAFPVQLV
SAGVVILLII SSILGSVWLA YKTPKLLRTA RGRRIKKCAT QLCRRCKTVC QFRASATARA
GTEPPGRHRT PHGGRSDH
