ID SRCA_HUMAN Reviewed; 473 AA. AC Q86TD4; B4DYT9; DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot. DT 07-OCT-2020, sequence version 3. DT 24-JAN-2024, entry version 141. DE RecName: Full=Sarcalumenin; DE Flags: Precursor; GN Name=SRL; 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), AND NUCLEOTIDE SEQUENCE RP [LARGE SCALE MRNA] OF 6-473 (ISOFORM 1). RC TISSUE=Skeletal muscle; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., RA Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15616553; DOI=10.1038/nature03187; RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M., RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., RA Myers R.M., Rubin E.M., Pennacchio L.A.; RT "The sequence and analysis of duplication-rich human chromosome 16."; RL Nature 432:988-994(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 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). CC -!- INTERACTION: CC Q86TD4-2; Q9Y2W7: KCNIP3; NbExp=3; IntAct=EBI-12304565, EBI-751501; CC Q86TD4-2; O43765: SGTA; NbExp=3; IntAct=EBI-12304565, EBI-347996; CC Q86TD4-2; P62760: VSNL1; NbExp=3; IntAct=EBI-12304565, EBI-740943; CC -!- SUBCELLULAR LOCATION: Sarcoplasmic reticulum lumen CC {ECO:0000250|UniProtKB:P13666}. Sarcoplasmic reticulum membrane CC {ECO:0000250|UniProtKB:P13666}; Peripheral membrane protein CC {ECO:0000250|UniProtKB:P13666}. Note=May associate with the CC sarcoplasmic reticulum membrane, via a calcium-dependent mechanism. CC {ECO:0000250|UniProtKB:P13666}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q86TD4-2; Sequence=Displayed; CC Name=2; CC IsoId=Q86TD4-1; Sequence=VSP_060763; CC Name=3; CC IsoId=Q86TD4-3; Sequence=VSP_060762; CC -!- PTM: N-glycosylated. {ECO:0000250|UniProtKB:P13666}. CC -!- SIMILARITY: Belongs to the TRAFAC class dynamin-like GTPase CC superfamily. Dynamin/Fzo/YdjA family. {ECO:0000255|PROSITE- CC ProRule:PRU01055}. CC -!- SEQUENCE CAUTION: CC Sequence=CAD89901.1; Type=Frameshift; 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; AL831973; CAD89901.1; ALT_FRAME; mRNA. DR EMBL; AL832361; -; NOT_ANNOTATED_CDS; mRNA. DR EMBL; BX647476; -; NOT_ANNOTATED_CDS; mRNA. DR EMBL; AC009171; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AK302601; BAG63851.1; -; mRNA. DR CCDS; CCDS42113.1; -. [Q86TD4-2] DR CCDS; CCDS81943.1; -. [Q86TD4-3] DR RefSeq; NP_001092284.1; NM_001098814.1. [Q86TD4-2] DR RefSeq; NP_001310596.1; NM_001323667.1. [Q86TD4-3] DR RefSeq; NP_001310597.1; NM_001323668.1. [Q86TD4-3] DR RefSeq; XP_016879017.1; XM_017023528.1. [Q86TD4-3] DR RefSeq; XP_016879018.1; XM_017023529.1. [Q86TD4-3] DR AlphaFoldDB; Q86TD4; -. DR SMR; Q86TD4; -. DR BioGRID; 112249; 5. DR IntAct; Q86TD4; 5. DR STRING; 9606.ENSP00000382518; -. DR GlyCosmos; Q86TD4; 2 sites, No reported glycans. DR GlyGen; Q86TD4; 2 sites. DR iPTMnet; Q86TD4; -. DR PhosphoSitePlus; Q86TD4; -. DR BioMuta; SRL; -. DR DMDM; 85540609; -. DR MassIVE; Q86TD4; -. DR PaxDb; 9606-ENSP00000382518; -. DR PeptideAtlas; Q86TD4; -. DR ProteomicsDB; 5546; -. DR ProteomicsDB; 69686; -. [Q86TD4-1] DR ProteomicsDB; 69687; -. [Q86TD4-2] DR Antibodypedia; 55440; 50 antibodies from 13 providers. DR DNASU; 6345; -. DR Ensembl; ENST00000399609.7; ENSP00000382518.3; ENSG00000185739.13. [Q86TD4-2] DR Ensembl; ENST00000537996.1; ENSP00000440350.1; ENSG00000185739.13. [Q86TD4-3] DR GeneID; 6345; -. DR KEGG; hsa:6345; -. DR MANE-Select; ENST00000399609.7; ENSP00000382518.3; NM_001098814.2; NP_001092284.1. DR UCSC; uc002cvz.4; human. [Q86TD4-2] DR UCSC; uc059qck.1; human. DR AGR; HGNC:11295; -. DR CTD; 6345; -. DR DisGeNET; 6345; -. DR GeneCards; SRL; -. DR HGNC; HGNC:11295; SRL. DR HPA; ENSG00000185739; Group enriched (heart muscle, skeletal muscle, tongue). DR MIM; 604992; gene. DR neXtProt; NX_Q86TD4; -. DR OpenTargets; ENSG00000185739; -. DR PharmGKB; PA36119; -. DR VEuPathDB; HostDB:ENSG00000185739; -. DR eggNOG; KOG1954; Eukaryota. DR GeneTree; ENSGT00940000157834; -. DR InParanoid; Q86TD4; -. DR OrthoDB; 12127at2759; -. DR PhylomeDB; Q86TD4; -. DR TreeFam; TF324008; -. DR PathwayCommons; Q86TD4; -. DR SignaLink; Q86TD4; -. DR BioGRID-ORCS; 6345; 11 hits in 1140 CRISPR screens. DR ChiTaRS; SRL; human. DR GeneWiki; Sarcalumenin; -. DR GenomeRNAi; 6345; -. DR Pharos; Q86TD4; Tdark. DR PRO; PR:Q86TD4; -. DR Proteomes; UP000005640; Chromosome 16. DR RNAct; Q86TD4; Protein. DR Bgee; ENSG00000185739; Expressed in hindlimb stylopod muscle and 148 other cell types or tissues. DR ExpressionAtlas; Q86TD4; baseline and differential. DR GO; GO:0033018; C:sarcoplasmic reticulum lumen; IEA:UniProtKB-SubCell. DR GO; GO:0033017; C:sarcoplasmic reticulum membrane; IEA:UniProtKB-SubCell. DR GO; GO:0005525; F:GTP binding; IEA:InterPro. DR CDD; cd09913; EHD; 1. DR Gene3D; 1.10.268.20; -; 1. DR Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 1. DR InterPro; IPR045063; Dynamin_N. DR InterPro; IPR031692; EHD_N. DR InterPro; IPR030381; G_DYNAMIN_dom. DR InterPro; IPR027417; P-loop_NTPase. DR PANTHER; PTHR43681:SF1; SARCALUMENIN; 1. DR PANTHER; PTHR43681; TRANSMEMBRANE GTPASE FZO; 1. DR Pfam; PF00350; Dynamin_N; 1. DR Pfam; PF16880; EHD_N; 1. DR SUPFAM; SSF52540; P-loop containing nucleoside triphosphate hydrolases; 1. DR PROSITE; PS51718; G_DYNAMIN_2; 1. DR Genevisible; Q86TD4; HS. PE 1: Evidence at protein level; KW Alternative splicing; Glycoprotein; Membrane; Reference proteome; KW Sarcoplasmic reticulum; Signal. FT SIGNAL 1..20 FT /evidence="ECO:0000255" FT CHAIN 21..473 FT /note="Sarcalumenin" FT /id="PRO_0000045426" FT DOMAIN 90..331 FT /note="Dynamin-type G" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01055" FT REGION 100..107 FT /note="G1 motif" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01055" FT REGION 128..129 FT /note="G2 motif" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01055" FT REGION 190..193 FT /note="G3 motif" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01055" FT REGION 255..258 FT /note="G4 motif" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01055" FT REGION 278 FT /note="G5 motif" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01055" FT CARBOHYD 281 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 389 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VAR_SEQ 1..42 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_060762" FT VAR_SEQ 20 FT /note="A -> AELQVSASGGTEDVGNLLENHFSAGDASLEEKERALYADTAPQDKKL FT LLHYPDGREAESPKKTPASAASAGPDPEASLSNASATESPPPGERDDRDAAGPGEEKNG FT PPVASALPPGGAKGPVEEEWPEPSSGEGQGEEETGFGLPTEGTASGEAGGQAGGHELPE FT EVQEVQGDSLVQGAVAGTAEPKAEGASPHSEGDGVGPLNAEAEGSPGPGEEPAVPEGAP FT DVAAVGGESEPDIDTQASEGTEDQGEPGPAAEASAEPGGAQSVKAGDTEESQAPEMTEE FT DADEASSEEESGDGSGSEEEGGVPSEEESEEDSGDGASSEEAEGASEEATEPQEAGEPQ FT EAREPQEGGDLQEAEESQEGGDPQEAEEPQEGGAPQEGGEPQEGGDPQEAREPQEAREP FT QEGAELPEATGTTSHRDRGAQPGPEELNTESMGSETLDMKAEEPEEGHQGRESPIIVAQ FT (in isoform 2)" FT /evidence="ECO:0000305" FT /id="VSP_060763" FT CONFLICT 416 FT /note="L -> P (in Ref. 1; CAD89901)" FT /evidence="ECO:0000305" SQ SEQUENCE 473 AA; 54431 MW; 976721235C129CB7 CRC64; MRALVLLGCL LASLLFSGQA EETEDANEEA PLRDRSHIEK TLMLNEDKPS DDYSAVLQRL RKIYHSSIKP LEQSYKYNEL RQHEITDGEI TSKPMVLFLG PWSVGKSTMI NYLLGLENTR YQLYTGAEPT TSEFTVLMHG PKLKTIEGIV MAADSARSFS PLEKFGQNFL EKLIGIEVPH KLLERVTFVD TPGIIENRKQ QERGYPFNDV CQWFIDRADL IFVVFDPTKL DVGLELEMLF RQLKGRESQI RIILNKADNL ATQMLMRVYG ALFWSLAPLI NVTEPPRVYV SSFWPQEYKP DTHQELFLQE EISLLEDLNQ VIENRLENKI AFIRQHAIRV RIHALLVDRY LQTYKDKMTF FSDGELVFKD IVEDPDKFYI FKTILAKTNV SKFDLPNREA YKDFFGINPI SSFKLLSQQC SYMGGCFLEK IERAITQELP GLLGSLGLGK NPGALNCDKT GCSETPKNRY RKH //