ENKUR_HUMAN
ID ENKUR_HUMAN Reviewed; 256 AA.
AC Q8TC29; A8K8Y0; D3DRV2;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Enkurin;
GN Name=ENKUR; Synonyms=C10orf63;
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 [MRNA].
RC TISSUE=Testis;
RX PubMed=15385169; DOI=10.1016/j.ydbio.2004.07.031;
RA Sutton K.A., Jungnickel M.K., Wang Y., Cullen K., Lambert S., Florman H.M.;
RT "Enkurin is a novel calmodulin and TRPC channel binding protein in sperm.";
RL Dev. Biol. 274:426-435(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Hippocampus, and 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [6]
RP INTERACTION WITH CFAP45.
RX PubMed=33139725; DOI=10.1038/s41467-020-19113-0;
RA Dougherty G.W., Mizuno K., Noethe-Menchen T., Ikawa Y., Boldt K.,
RA Ta-Shma A., Aprea I., Minegishi K., Pang Y.P., Pennekamp P., Loges N.T.,
RA Raidt J., Hjeij R., Wallmeier J., Mussaffi H., Perles Z., Elpeleg O.,
RA Rabert F., Shiratori H., Letteboer S.J., Horn N., Young S., Struenker T.,
RA Stumme F., Werner C., Olbrich H., Takaoka K., Ide T., Twan W.K.,
RA Biebach L., Grosse-Onnebrink J., Klinkenbusch J.A., Praveen K.,
RA Bracht D.C., Hoeben I.M., Junger K., Guetzlaff J., Cindric S., Aviram M.,
RA Kaiser T., Memari Y., Dzeja P.P., Dworniczak B., Ueffing M., Roepman R.,
RA Bartscherer K., Katsanis N., Davis E.E., Amirav I., Hamada H., Omran H.;
RT "CFAP45 deficiency causes situs abnormalities and asthenospermia by
RT disrupting an axonemal adenine nucleotide homeostasis module.";
RL Nat. Commun. 11:5520-5520(2020).
CC -!- FUNCTION: Adapter that functions to localize a calcium-sensitive signal
CC transduction machinery in sperm to a calcium-permeable ion channel (By
CC similarity). Microtubule inner protein (MIP) part of the dynein-
CC decorated doublet microtubules (DMTs) in cilia axoneme, which is
CC required for motile cilia beating (By similarity).
CC {ECO:0000250|UniProtKB:E1B836, ECO:0000250|UniProtKB:Q6SP97}.
CC -!- SUBUNIT: Binds calmodulin via its IQ domain. Interacts with TRPC1,
CC TRPC2, TRPC5, but not TRPC3 (By similarity). Interacts with CFAP45
CC (PubMed:33139725). {ECO:0000250|UniProtKB:Q6SP97,
CC ECO:0000269|PubMed:33139725}.
CC -!- INTERACTION:
CC Q8TC29; Q92870-2: APBB2; NbExp=3; IntAct=EBI-9246952, EBI-21535880;
CC Q8TC29; P54253: ATXN1; NbExp=6; IntAct=EBI-9246952, EBI-930964;
CC Q8TC29; Q9UL16: CFAP45; NbExp=3; IntAct=EBI-9246952, EBI-13039584;
CC Q8TC29; Q14203-5: DCTN1; NbExp=3; IntAct=EBI-9246952, EBI-25840379;
CC Q8TC29; O43464: HTRA2; NbExp=3; IntAct=EBI-9246952, EBI-517086;
CC Q8TC29; P42858: HTT; NbExp=6; IntAct=EBI-9246952, EBI-466029;
CC Q8TC29; D3DTS7: PMP22; NbExp=3; IntAct=EBI-9246952, EBI-25882629;
CC Q8TC29; O60260-5: PRKN; NbExp=6; IntAct=EBI-9246952, EBI-21251460;
CC Q8TC29; P41219: PRPH; NbExp=3; IntAct=EBI-9246952, EBI-752074;
CC Q8TC29; P37840: SNCA; NbExp=3; IntAct=EBI-9246952, EBI-985879;
CC Q8TC29; P00441: SOD1; NbExp=3; IntAct=EBI-9246952, EBI-990792;
CC Q8TC29; Q13148: TARDBP; NbExp=6; IntAct=EBI-9246952, EBI-372899;
CC Q8TC29; P09936: UCHL1; NbExp=3; IntAct=EBI-9246952, EBI-714860;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:E1B836}. Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q6SP97}. Note=Sperm acrosomal crescent and
CC flagellar principal piece. {ECO:0000250|UniProtKB:Q6SP97}.
CC -!- DOMAIN: The IQ motif is involved in calmodulin binding.
CC {ECO:0000250|UniProtKB:Q6SP97}.
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DR EMBL; AY454125; AAS45168.1; -; mRNA.
DR EMBL; AK095021; BAC04477.1; -; mRNA.
DR EMBL; AK292495; BAF85184.1; -; mRNA.
DR EMBL; AL512598; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471072; EAW86115.1; -; Genomic_DNA.
DR EMBL; CH471072; EAW86116.1; -; Genomic_DNA.
DR EMBL; BC026165; AAH26165.1; -; mRNA.
DR CCDS; CCDS7146.1; -.
DR RefSeq; NP_001257312.1; NM_001270383.1.
DR RefSeq; NP_659447.1; NM_145010.3.
DR RefSeq; XP_011517650.1; XM_011519348.1.
DR AlphaFoldDB; Q8TC29; -.
DR SMR; Q8TC29; -.
DR BioGRID; 128562; 8.
DR IntAct; Q8TC29; 16.
DR MINT; Q8TC29; -.
DR STRING; 9606.ENSP00000331044; -.
DR iPTMnet; Q8TC29; -.
DR PhosphoSitePlus; Q8TC29; -.
DR BioMuta; ENKUR; -.
DR DMDM; 71151870; -.
DR EPD; Q8TC29; -.
DR MassIVE; Q8TC29; -.
DR PaxDb; Q8TC29; -.
DR PeptideAtlas; Q8TC29; -.
DR PRIDE; Q8TC29; -.
DR ProteomicsDB; 74085; -.
DR Antibodypedia; 25866; 225 antibodies from 21 providers.
DR DNASU; 219670; -.
DR Ensembl; ENST00000331161.9; ENSP00000331044.4; ENSG00000151023.17.
DR Ensembl; ENST00000496261.6; ENSP00000432930.1; ENSG00000151023.17.
DR GeneID; 219670; -.
DR KEGG; hsa:219670; -.
DR MANE-Select; ENST00000331161.9; ENSP00000331044.4; NM_145010.4; NP_659447.1.
DR UCSC; uc001isg.2; human.
DR CTD; 219670; -.
DR DisGeNET; 219670; -.
DR GeneCards; ENKUR; -.
DR HGNC; HGNC:28388; ENKUR.
DR HPA; ENSG00000151023; Tissue enhanced (brain, choroid plexus, fallopian tube).
DR MIM; 611025; gene.
DR neXtProt; NX_Q8TC29; -.
DR OpenTargets; ENSG00000151023; -.
DR PharmGKB; PA165548526; -.
DR VEuPathDB; HostDB:ENSG00000151023; -.
DR eggNOG; ENOG502QT8E; Eukaryota.
DR GeneTree; ENSGT00940000153866; -.
DR InParanoid; Q8TC29; -.
DR OMA; YISTFRP; -.
DR PhylomeDB; Q8TC29; -.
DR TreeFam; TF323892; -.
DR PathwayCommons; Q8TC29; -.
DR SignaLink; Q8TC29; -.
DR BioGRID-ORCS; 219670; 10 hits in 1065 CRISPR screens.
DR ChiTaRS; ENKUR; human.
DR GeneWiki; Enkurin; -.
DR GenomeRNAi; 219670; -.
DR Pharos; Q8TC29; Tdark.
DR PRO; PR:Q8TC29; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8TC29; protein.
DR Bgee; ENSG00000151023; Expressed in bronchial epithelial cell and 109 other tissues.
DR ExpressionAtlas; Q8TC29; baseline and differential.
DR Genevisible; Q8TC29; HS.
DR GO; GO:0097728; C:9+0 motile cilium; IEA:Ensembl.
DR GO; GO:0097729; C:9+2 motile cilium; IDA:GO_Central.
DR GO; GO:0001669; C:acrosomal vesicle; IBA:GO_Central.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0097228; C:sperm principal piece; IEA:Ensembl.
DR GO; GO:0005516; F:calmodulin binding; IBA:GO_Central.
DR GO; GO:0017124; F:SH3 domain binding; IEA:UniProtKB-KW.
DR GO; GO:0061966; P:establishment of left/right asymmetry; IDA:GO_Central.
DR GO; GO:0030317; P:flagellated sperm motility; IEA:Ensembl.
DR InterPro; IPR026150; Enkur.
DR InterPro; IPR027012; Enkurin_dom.
DR PANTHER; PTHR21490:SF0; PTHR21490:SF0; 1.
DR Pfam; PF13864; Enkurin; 1.
DR PROSITE; PS51665; ENKURIN; 1.
PE 1: Evidence at protein level;
KW Calmodulin-binding; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Flagellum; Reference proteome; SH3-binding.
FT CHAIN 1..256
FT /note="Enkurin"
FT /id="PRO_0000086975"
FT DOMAIN 160..252
FT /note="Enkurin"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01000"
FT DOMAIN 176..187
FT /note="IQ"
FT REGION 160..255
FT /note="Interaction with TRPC proteins"
FT /evidence="ECO:0000250|UniProtKB:Q6SP97"
FT MOTIF 83..89
FT /note="SH3-binding"
FT /evidence="ECO:0000255"
SQ SEQUENCE 256 AA; 29454 MW; 88F5BA7DD3FA6FE8 CRC64;
MDPTCSSECI YNLIPSDLKE PPQPPRYISI FKATVKDDMQ KAKTAMKTMG PAKVEVPSPK
DFLKKHSKEK TLPPKKNFDR NVPKKPAVPL KTDHPVMGIQ SGKNFINTNA ADIIMGVAKK
PKPIYVDKRT GDKHDLEPSG LVPKYINKKD YGVTPEYICK RNEEIKKAQE DYDRYIQENL
KKAAMKRLSD EEREAVLQGL KKNWEEVHKE FQSLSVFIDS IPKKIRKQRL EEEMKQLEHD
IGIIEKHKII YIANNA
