TPC2L_HUMAN
ID TPC2L_HUMAN Reviewed; 140 AA.
AC Q9UL33; B2R4M9; Q6ZTA7; Q9NZZ4;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Trafficking protein particle complex subunit 2-like protein;
GN Name=TRAPPC2L; ORFNames=HSPC126;
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] (ISOFORM 1).
RA Zhu X., Qu Z.;
RT "Human cDNA complete cds with product weakly homologous to yeast P38334
RT hypothetical 19.7 KD protein.";
RL Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Umbilical cord blood;
RX PubMed=11042152; DOI=10.1101/gr.140200;
RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
RT "Cloning and functional analysis of cDNAs with open reading frames for 300
RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor
RT cells.";
RL Genome Res. 10:1546-1560(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Cerebellum, and Pericardium;
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Eye;
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 FUNCTION, IDENTIFICATION IN TRAPP COMPLEX, INTERACTION WITH TRAPPC2;
RP TRAPPC3; TRAPPC4 AND TRAPPC6A, SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=19416478; DOI=10.1111/j.1600-0854.2009.00906.x;
RA Scrivens P.J., Shahrzad N., Moores A., Morin A., Brunet S., Sacher M.;
RT "TRAPPC2L is a novel, highly conserved TRAPP-interacting protein.";
RL Traffic 10:724-736(2009).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP IDENTIFICATION IN TRAPP COMPLEX.
RX PubMed=21525244; DOI=10.1091/mbc.e10-11-0873;
RA Scrivens P.J., Noueihed B., Shahrzad N., Hul S., Brunet S., Sacher M.;
RT "C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early
RT stage in ER-to-Golgi trafficking.";
RL Mol. Biol. Cell 22:2083-2093(2011).
RN [9]
RP FUNCTION, INVOLVEMENT IN PEERB, VARIANT PEERB TYR-37, AND CHARACTERIZATION
RP OF VARIANT PEERB TYR-37.
RX PubMed=30120216; DOI=10.1136/jmedgenet-2018-105441;
RA Milev M.P., Graziano C., Karall D., Kuper W.F.E., Al-Deri N.,
RA Cordelli D.M., Haack T.B., Danhauser K., Iuso A., Palombo F., Pippucci T.,
RA Prokisch H., Saint-Dic D., Seri M., Stanga D., Cenacchi G.,
RA van Gassen K.L.I., Zschocke J., Fauth C., Mayr J.A., Sacher M.,
RA van Hasselt P.M.;
RT "Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder
RT and have an impact on RAB11 in fibroblasts.";
RL J. Med. Genet. 55:753-764(2018).
CC -!- FUNCTION: Plays a role in vesicular transport from endoplasmic
CC reticulum to Golgi. {ECO:0000269|PubMed:19416478,
CC ECO:0000269|PubMed:30120216}.
CC -!- SUBUNIT: Component of the multisubunit TRAPP (transport protein
CC particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3,
CC TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and
CC TRAPPC12. Interacts with the heterodimer TRAPPC3-TRAPPC6A. Interacts
CC with TRAPPC6A. {ECO:0000269|PubMed:19416478,
CC ECO:0000269|PubMed:21525244}.
CC -!- INTERACTION:
CC Q9UL33; Q9H2G9: BLZF1; NbExp=3; IntAct=EBI-747601, EBI-2548012;
CC Q9UL33; Q8IYX8-2: CEP57L1; NbExp=3; IntAct=EBI-747601, EBI-10181988;
CC Q9UL33; Q04864: REL; NbExp=3; IntAct=EBI-747601, EBI-307352;
CC Q9UL33; Q96D71-2: REPS1; NbExp=3; IntAct=EBI-747601, EBI-10284498;
CC Q9UL33; Q96D71-3: REPS1; NbExp=3; IntAct=EBI-747601, EBI-10284512;
CC Q9UL33; P15884: TCF4; NbExp=3; IntAct=EBI-747601, EBI-533224;
CC Q9UL33; O43617: TRAPPC3; NbExp=6; IntAct=EBI-747601, EBI-743566;
CC Q9UL33; Q15654: TRIP6; NbExp=3; IntAct=EBI-747601, EBI-742327;
CC Q9UL33-2; Q9H2G9: BLZF1; NbExp=3; IntAct=EBI-11119202, EBI-2548012;
CC Q9UL33-2; Q9NW68: BSDC1; NbExp=3; IntAct=EBI-11119202, EBI-721848;
CC Q9UL33-2; Q9H3H3-3: C11orf68; NbExp=8; IntAct=EBI-11119202, EBI-12002214;
CC Q9UL33-2; O95872: GPANK1; NbExp=3; IntAct=EBI-11119202, EBI-751540;
CC Q9UL33-2; P80188: LCN2; NbExp=3; IntAct=EBI-11119202, EBI-11911016;
CC Q9UL33-2; P50458: LHX2; NbExp=3; IntAct=EBI-11119202, EBI-12179869;
CC Q9UL33-2; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-11119202, EBI-11742507;
CC Q9UL33-2; A8MW99: MEI4; NbExp=3; IntAct=EBI-11119202, EBI-19944212;
CC Q9UL33-2; P50221: MEOX1; NbExp=3; IntAct=EBI-11119202, EBI-2864512;
CC Q9UL33-2; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11119202, EBI-16439278;
CC Q9UL33-2; P62487: POLR2G; NbExp=3; IntAct=EBI-11119202, EBI-347928;
CC Q9UL33-2; Q15276: RABEP1; NbExp=3; IntAct=EBI-11119202, EBI-447043;
CC Q9UL33-2; Q04864-2: REL; NbExp=3; IntAct=EBI-11119202, EBI-10829018;
CC Q9UL33-2; Q16385-2: SSX2B; NbExp=3; IntAct=EBI-11119202, EBI-17564583;
CC Q9UL33-2; P15884-3: TCF4; NbExp=3; IntAct=EBI-11119202, EBI-13636688;
CC Q9UL33-2; O43617: TRAPPC3; NbExp=7; IntAct=EBI-11119202, EBI-743566;
CC Q9UL33-2; O75865-2: TRAPPC6A; NbExp=5; IntAct=EBI-11119202, EBI-8451480;
CC Q9UL33-2; B2RXF5: ZBTB42; NbExp=3; IntAct=EBI-11119202, EBI-12287587;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, perinuclear region
CC {ECO:0000269|PubMed:19416478}. Endoplasmic reticulum
CC {ECO:0000269|PubMed:19416478}. Golgi apparatus
CC {ECO:0000269|PubMed:19416478}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UL33-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UL33-2; Sequence=VSP_026641;
CC -!- TISSUE SPECIFICITY: Expressed in testis, liver, bladder, lung, spleen
CC and brain, several cell lines and primary chondrocytes cell line.
CC {ECO:0000269|PubMed:19416478}.
CC -!- DISEASE: Encephalopathy, progressive, early-onset, with episodic
CC rhabdomyolysis (PEERB) [MIM:618331]: An autosomal recessive disease
CC characterized by progressive encephalopathy exacerbated by febrile
CC illness and associated with severe neurodevelopmental delay, episodes
CC of rhabdomyolysis, developmental regression, epilepsy and tetraplegia.
CC {ECO:0000269|PubMed:30120216}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TRAPP small subunits family. Sedlin
CC subfamily. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC86686.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
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DR EMBL; AF089106; AAF00568.1; -; mRNA.
DR EMBL; AF161524; AAF29139.1; -; mRNA.
DR EMBL; AK126779; BAC86686.1; ALT_SEQ; mRNA.
DR EMBL; AK311885; BAG34826.1; -; mRNA.
DR EMBL; AC092384; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC011369; AAH11369.1; -; mRNA.
DR EMBL; BC018024; AAH18024.1; -; mRNA.
DR EMBL; BC105809; AAI05810.1; -; mRNA.
DR CCDS; CCDS10971.1; -. [Q9UL33-1]
DR RefSeq; NP_001305453.1; NM_001318524.1.
DR RefSeq; NP_001305454.1; NM_001318525.1. [Q9UL33-2]
DR RefSeq; NP_001305455.1; NM_001318526.1.
DR RefSeq; NP_001305456.1; NM_001318527.1.
DR RefSeq; NP_001305457.1; NM_001318528.1.
DR RefSeq; NP_001305458.1; NM_001318529.1.
DR RefSeq; NP_001305459.1; NM_001318530.1.
DR RefSeq; NP_001305461.1; NM_001318532.1.
DR RefSeq; NP_057293.1; NM_016209.4. [Q9UL33-1]
DR AlphaFoldDB; Q9UL33; -.
DR SMR; Q9UL33; -.
DR BioGRID; 119681; 124.
DR ComplexPortal; CPX-4749; TRAPP II complex, TRAPPC2 variant.
DR ComplexPortal; CPX-4750; TRAPP III complex, TRAPPC2 variant.
DR ComplexPortal; CPX-6902; TRAPP II complex, TRAPPC2B variant.
DR ComplexPortal; CPX-6903; TRAPP III complex, TRAPPC2B variant.
DR CORUM; Q9UL33; -.
DR IntAct; Q9UL33; 40.
DR MINT; Q9UL33; -.
DR STRING; 9606.ENSP00000301021; -.
DR iPTMnet; Q9UL33; -.
DR PhosphoSitePlus; Q9UL33; -.
DR BioMuta; TRAPPC2L; -.
DR DMDM; 74721024; -.
DR EPD; Q9UL33; -.
DR jPOST; Q9UL33; -.
DR MassIVE; Q9UL33; -.
DR MaxQB; Q9UL33; -.
DR PaxDb; Q9UL33; -.
DR PeptideAtlas; Q9UL33; -.
DR PRIDE; Q9UL33; -.
DR ProteomicsDB; 84936; -. [Q9UL33-1]
DR ProteomicsDB; 84937; -. [Q9UL33-2]
DR Antibodypedia; 44977; 70 antibodies from 18 providers.
DR DNASU; 51693; -.
DR Ensembl; ENST00000301021.7; ENSP00000301021.3; ENSG00000167515.10. [Q9UL33-1]
DR GeneID; 51693; -.
DR KEGG; hsa:51693; -.
DR UCSC; uc002fmg.4; human. [Q9UL33-1]
DR CTD; 51693; -.
DR DisGeNET; 51693; -.
DR GeneCards; TRAPPC2L; -.
DR HGNC; HGNC:30887; TRAPPC2L.
DR HPA; ENSG00000167515; Low tissue specificity.
DR MalaCards; TRAPPC2L; -.
DR MIM; 610970; gene.
DR MIM; 618331; phenotype.
DR neXtProt; NX_Q9UL33; -.
DR OpenTargets; ENSG00000167515; -.
DR PharmGKB; PA145147879; -.
DR VEuPathDB; HostDB:ENSG00000167515; -.
DR eggNOG; KOG3444; Eukaryota.
DR GeneTree; ENSGT00510000047505; -.
DR OMA; IAHTSID; -.
DR OrthoDB; 1549524at2759; -.
DR PhylomeDB; Q9UL33; -.
DR TreeFam; TF323920; -.
DR PathwayCommons; Q9UL33; -.
DR Reactome; R-HSA-204005; COPII-mediated vesicle transport.
DR Reactome; R-HSA-8876198; RAB GEFs exchange GTP for GDP on RABs.
DR SignaLink; Q9UL33; -.
DR BioGRID-ORCS; 51693; 83 hits in 1081 CRISPR screens.
DR ChiTaRS; TRAPPC2L; human.
DR GenomeRNAi; 51693; -.
DR Pharos; Q9UL33; Tdark.
DR PRO; PR:Q9UL33; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9UL33; protein.
DR Bgee; ENSG00000167515; Expressed in right adrenal gland cortex and 195 other tissues.
DR ExpressionAtlas; Q9UL33; baseline and differential.
DR Genevisible; Q9UL33; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0030008; C:TRAPP complex; IDA:UniProtKB.
DR GO; GO:1990071; C:TRAPPII protein complex; IC:ComplexPortal.
DR GO; GO:1990072; C:TRAPPIII protein complex; IC:ComplexPortal.
DR GO; GO:0048208; P:COPII vesicle coating; IC:ComplexPortal.
DR GO; GO:0006888; P:endoplasmic reticulum to Golgi vesicle-mediated transport; IBA:GO_Central.
DR GO; GO:0006901; P:vesicle coating; IC:ComplexPortal.
DR GO; GO:0099022; P:vesicle tethering; IC:ComplexPortal.
DR CDD; cd14854; TRAPPC2L; 1.
DR InterPro; IPR011012; Longin-like_dom_sf.
DR InterPro; IPR006722; Sedlin.
DR InterPro; IPR044760; TRAPPC2L.
DR PANTHER; PTHR12403; PTHR12403; 1.
DR Pfam; PF04628; Sedlin_N; 1.
DR SUPFAM; SSF64356; SSF64356; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Disease variant; Endoplasmic reticulum;
KW Epilepsy; ER-Golgi transport; Golgi apparatus; Reference proteome;
KW Transport.
FT CHAIN 1..140
FT /note="Trafficking protein particle complex subunit 2-like
FT protein"
FT /id="PRO_0000294451"
FT VAR_SEQ 125
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11042152,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_026641"
FT VARIANT 37
FT /note="D -> Y (in PEERB; altered intracellular trafficking
FT from the ER to the Golgi to the plasma membrane;
FT dbSNP:rs766510287)"
FT /evidence="ECO:0000269|PubMed:30120216"
FT /id="VAR_081978"
SQ SEQUENCE 140 AA; 16146 MW; 4549BCA7CE9566DC CRC64;
MAVCIAVIAK ENYPLYIRST PTENELKFHY MVHTSLDVVD EKISAMGKAL VDQRELYLGL
LYPTEDYKVY GYVTNSKVKF VMVVDSSNTA LRDNEIRSMF RKLHNSYTDV MCNPFYNPGD
RIQSSRAFDN MVTSMMIQVC
