SRCA_HUMAN
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 03-AUG-2022, entry version 134.
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};
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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 GlyGen; Q86TD4; 2 sites.
DR iPTMnet; Q86TD4; -.
DR PhosphoSitePlus; Q86TD4; -.
DR BioMuta; SRL; -.
DR DMDM; 85540609; -.
DR MassIVE; Q86TD4; -.
DR PaxDb; Q86TD4; -.
DR PeptideAtlas; Q86TD4; -.
DR PRIDE; Q86TD4; -.
DR ProteomicsDB; 5546; -.
DR ProteomicsDB; 69686; -. [Q86TD4-1]
DR ProteomicsDB; 69687; -. [Q86TD4-2]
DR Antibodypedia; 55440; 44 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 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; 377342at2759; -.
DR PhylomeDB; Q86TD4; -.
DR TreeFam; TF324008; -.
DR PathwayCommons; Q86TD4; -.
DR SignaLink; Q86TD4; -.
DR BioGRID-ORCS; 6345; 9 hits in 1062 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 tissues.
DR ExpressionAtlas; Q86TD4; baseline and differential.
DR Genevisible; Q86TD4; HS.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IBA:GO_Central.
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 GO; GO:0006897; P:endocytosis; IBA:GO_Central.
DR GO; GO:0016197; P:endosomal transport; IBA:GO_Central.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR045063; Dynamin_N.
DR InterPro; IPR031692; EHD_N.
DR InterPro; IPR030381; G_DYNAMIN_dom.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF00350; Dynamin_N; 1.
DR Pfam; PF16880; EHD_N; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS51718; G_DYNAMIN_2; 1.
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
