CTSRE_HUMAN
ID CTSRE_HUMAN Reviewed; 951 AA.
AC Q5SY80; B4DZR4; B7Z7X5; E9PEA3; Q8IYZ6;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Cation channel sperm-associated auxiliary subunit epsilon {ECO:0000312|HGNC:HGNC:28491};
DE Short=CatSper-epsilon {ECO:0000250|UniProtKB:P0DP43};
DE Short=CatSperepsilon {ECO:0000250|UniProtKB:P0DP43};
DE Flags: Precursor;
GN Name=CATSPERE {ECO:0000312|HGNC:HGNC:28491};
GN Synonyms=C1orf101 {ECO:0000312|HGNC:HGNC:28491};
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] (ISOFORMS 1 AND 3).
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=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
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).
RN [5]
RP VARIANT [LARGE SCALE ANALYSIS] ILE-653.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=28226241; DOI=10.7554/elife.23082;
RA Chung J.J., Miki K., Kim D., Shim S.H., Shi H.F., Hwang J.Y., Cai X.,
RA Iseri Y., Zhuang X., Clapham D.E.;
RT "CatSperzeta regulates the structural continuity of sperm Ca(2+) signaling
RT domains and is required for normal fertility.";
RL Elife 6:0-0(2017).
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. {ECO:0000250|UniProtKB:P0DP43}.
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:P0DP43,
CC ECO:0000250|UniProtKB:Q91ZR5}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
CC {ECO:0000269|PubMed:28226241}; Single-pass type I membrane protein
CC {ECO:0000255}. Note=Specifically located in the principal piece of
CC sperm tail. {ECO:0000269|PubMed:28226241}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5SY80-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5SY80-2; Sequence=VSP_020748, VSP_020749;
CC Name=3;
CC IsoId=Q5SY80-3; Sequence=VSP_044251;
CC -!- SIMILARITY: Belongs to the CATSPERD family. {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=BC028392; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK302609; BAH13761.1; -; mRNA.
DR EMBL; AK303059; BAG64176.1; -; mRNA.
DR EMBL; AC099757; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL591594; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471148; EAW77109.1; -; Genomic_DNA.
DR EMBL; BC032859; AAH32859.1; -; mRNA.
DR EMBL; BC028392; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS1625.1; -. [Q5SY80-2]
DR CCDS; CCDS44340.1; -. [Q5SY80-1]
DR CCDS; CCDS55693.1; -. [Q5SY80-3]
DR RefSeq; NP_001124429.1; NM_001130957.1. [Q5SY80-1]
DR RefSeq; NP_001229269.1; NM_001242340.1. [Q5SY80-3]
DR RefSeq; NP_776168.1; NM_173807.4. [Q5SY80-2]
DR RefSeq; XP_011542441.1; XM_011544139.2. [Q5SY80-3]
DR RefSeq; XP_011542444.1; XM_011544142.2. [Q5SY80-3]
DR RefSeq; XP_011542451.1; XM_011544149.2. [Q5SY80-3]
DR RefSeq; XP_016856435.1; XM_017000946.1. [Q5SY80-3]
DR RefSeq; XP_016856438.1; XM_017000949.1. [Q5SY80-3]
DR RefSeq; XP_016856439.1; XM_017000950.1. [Q5SY80-3]
DR AlphaFoldDB; Q5SY80; -.
DR SMR; Q5SY80; -.
DR BioGRID; 129192; 7.
DR IntAct; Q5SY80; 1.
DR STRING; 9606.ENSP00000355492; -.
DR GlyGen; Q5SY80; 4 sites.
DR iPTMnet; Q5SY80; -.
DR PhosphoSitePlus; Q5SY80; -.
DR BioMuta; CATSPERE; -.
DR DMDM; 74744048; -.
DR jPOST; Q5SY80; -.
DR MassIVE; Q5SY80; -.
DR PaxDb; Q5SY80; -.
DR PeptideAtlas; Q5SY80; -.
DR PRIDE; Q5SY80; -.
DR ProteomicsDB; 5618; -.
DR ProteomicsDB; 64019; -. [Q5SY80-1]
DR ProteomicsDB; 64020; -. [Q5SY80-2]
DR Antibodypedia; 68517; 43 antibodies from 9 providers.
DR DNASU; 257044; -.
DR Ensembl; ENST00000366531.7; ENSP00000355489.3; ENSG00000179397.18. [Q5SY80-3]
DR Ensembl; ENST00000366533.8; ENSP00000355491.4; ENSG00000179397.18. [Q5SY80-2]
DR Ensembl; ENST00000366534.9; ENSP00000355492.4; ENSG00000179397.18. [Q5SY80-1]
DR GeneID; 257044; -.
DR KEGG; hsa:257044; -.
DR MANE-Select; ENST00000366534.9; ENSP00000355492.4; NM_001130957.2; NP_001124429.1.
DR UCSC; uc001ial.4; human. [Q5SY80-1]
DR CTD; 257044; -.
DR DisGeNET; 257044; -.
DR GeneCards; CATSPERE; -.
DR HGNC; HGNC:28491; CATSPERE.
DR HPA; ENSG00000179397; Tissue enriched (testis).
DR MIM; 617510; gene.
DR neXtProt; NX_Q5SY80; -.
DR OpenTargets; ENSG00000179397; -.
DR PharmGKB; PA142672485; -.
DR VEuPathDB; HostDB:ENSG00000179397; -.
DR eggNOG; ENOG502R8SD; Eukaryota.
DR GeneTree; ENSGT00940000162691; -.
DR HOGENOM; CLU_014273_0_0_1; -.
DR InParanoid; Q5SY80; -.
DR OMA; YRHCFSY; -.
DR OrthoDB; 213907at2759; -.
DR PhylomeDB; Q5SY80; -.
DR TreeFam; TF336183; -.
DR PathwayCommons; Q5SY80; -.
DR SignaLink; Q5SY80; -.
DR BioGRID-ORCS; 257044; 6 hits in 1055 CRISPR screens.
DR ChiTaRS; C1orf101; human.
DR GenomeRNAi; 257044; -.
DR Pharos; Q5SY80; Tdark.
DR PRO; PR:Q5SY80; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5SY80; protein.
DR Bgee; ENSG00000179397; Expressed in left testis and 102 other tissues.
DR ExpressionAtlas; Q5SY80; baseline and differential.
DR Genevisible; Q5SY80; HS.
DR GO; GO:0036128; C:CatSper complex; ISS:UniProtKB.
DR GO; GO:0097228; C:sperm principal piece; IDA:UniProtKB.
DR GO; GO:0030317; P:flagellated sperm motility; IBA:GO_Central.
DR GO; GO:0048240; P:sperm capacitation; IBA:GO_Central.
DR InterPro; IPR028751; CATSPERD/E.
DR PANTHER; PTHR33722; PTHR33722; 1.
DR Pfam; PF15020; CATSPERD; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Cell projection; Cilium;
KW Disulfide bond; Flagellum; Glycoprotein; Membrane; Reference proteome;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..951
FT /note="Cation channel sperm-associated auxiliary subunit
FT epsilon"
FT /id="PRO_0000251216"
FT TOPO_DOM 20..903
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT TRANSMEM 904..924
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT TOPO_DOM 925..951
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT CARBOHYD 61
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 114
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 414
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 487
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 493
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 535
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 796
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 854
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 881
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 886
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 57..71
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT DISULFID 101..206
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT DISULFID 246..336
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT DISULFID 410..413
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT DISULFID 583..690
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT DISULFID 703..885
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT DISULFID 719..752
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT DISULFID 804..835
FT /evidence="ECO:0000250|UniProtKB:P0DP43"
FT VAR_SEQ 1..151
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044251"
FT VAR_SEQ 831..832
FT /note="NY -> FL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020748"
FT VAR_SEQ 833..951
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020749"
FT VARIANT 56
FT /note="T -> S (in dbSNP:rs58602830)"
FT /id="VAR_061566"
FT VARIANT 66
FT /note="T -> K (in dbSNP:rs11586356)"
FT /id="VAR_027661"
FT VARIANT 653
FT /note="T -> I (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035494"
SQ SEQUENCE 951 AA; 109662 MW; D00AA5E03F6DBF47 CRC64;
MSAREVAVLL LWLSCYGSAL WRYSTNSPNY RIFSTRSTIK LEYEGTLFTE WSVPETCFVL
NKSSPTTELR CSSPGVHAIK PIVTGPDEEE RYLFVESSHT CFLWYYRVRH FFNNFTQLIT
VWAYDPESAD PDELLGNAEE PSINSIVLST QMATLGQKPV IHTVLKRKVY SSNEKMRRGT
WRIVVPMTKD DALKEIRGNQ VTFQDCFIAD FLILLTFPLL TIPEIPGYLP ISSPRGSQLM
ASWDACVVAS AVLVTDMETF HTTDSFKSWT RIRVPPDILS DDERRSVAHV ILSRDGIVFL
INGVLYIKSF RGFIRLGGIV NLPDGGITGI SSRKWCWVNY LLKAKGRRST FAVWTENEIY
LGSILLKFAR LVTTTELKNI LSLSVTATLT IDRVEYTGHP LEIAVFLNYC TVCNVTKKIF
LVIYNEDTKQ WVSQDFTLDA PIDSVTMPHF TFSALPGLLL WNKHSIYYCY HNFTFTGILQ
TPAGHGNLSM LSNDSIIHEV FIDYYGDILV KMENNVIFYS KINTRDAVKL HLWTNYTTRA
FIFLSTSGQT YFLYALDDGT IQIQDYPLHL EAQSIAFTTK DKCPYMAFHN NVAHVFYFLD
KGEALTVWTQ IVYPENTGLY VIVESYGPKI LQESHEISFE AAFGYCTKTL TLTFYQNVDY
ERISDYFETQ DKHTGLVLVQ FRPSEYSKAC PIAQKVFQIA VGCDDKKFIA IKGFSKKGCH
HHDFSYVIEK SYLRHQPSKN LRVRYIWGEY GCPLRLDFTE KFQPVVQLFD DNGYVKDVEA
NFIVWEIHGR DDYSFNNTMA QSGCLHEAQT WKSMIELNKH LPLEEVWGPE NYKHCFSYAI
GKPGDLNQPY EIINSSNGNH IFWPMGHSGM YVFRVKILDP NYSFCNLTAM FAIETFGLIP
SPSVYLVASF LFVLMLLFFT ILVLSYFRYM RIYRRYIYEP LHKPQRKRKK N
