TMCC3_HUMAN
ID TMCC3_HUMAN Reviewed; 477 AA.
AC Q9ULS5; Q8IWB2;
DT 11-JUL-2001, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Transmembrane and coiled-coil domain protein 3 {ECO:0000303|PubMed:24454821};
GN Name=TMCC3 {ECO:0000303|PubMed:24454821};
GN Synonyms=KIAA1145 {ECO:0000303|PubMed:10574461};
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 GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ASP-16 AND GLN-232.
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 11-477.
RC TISSUE=Brain;
RX PubMed=10574461; DOI=10.1093/dnares/6.5.329;
RA Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.;
RT "Characterization of cDNA clones selected by the GeneMark analysis from
RT size-fractionated cDNA libraries from human brain.";
RL DNA Res. 6:329-336(1999).
RN [4]
RP SUBCELLULAR LOCATION, AND SUBUNIT.
RX PubMed=24454821; DOI=10.1371/journal.pone.0085206;
RA Zhang C., Kho Y.S., Wang Z., Chiang Y.T., Ng G.K., Shaw P.C., Wang Y.,
RA Qi R.Z.;
RT "Transmembrane and coiled-coil domain family 1 is a novel protein of the
RT endoplasmic reticulum.";
RL PLoS ONE 9:E85206-E85206(2014).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=27697108; DOI=10.5483/bmbrep.2016.49.11.151;
RA Sohn W.J., Kim J.Y., Kim D., Park J.A., Lee Y., Kwon H.J.;
RT "Expression and characterization of transmembrane and coiled-coil domain
RT family 3.";
RL BMB Rep. 49:629-634(2016).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=30220460; DOI=10.1016/j.cell.2018.08.030;
RA Hoyer M.J., Chitwood P.J., Ebmeier C.C., Striepen J.F., Qi R.Z., Old W.M.,
RA Voeltz G.K.;
RT "A novel class of ER membrane proteins regulates ER-associated endosome
RT fission.";
RL Cell 175:254-265(2018).
CC -!- SUBUNIT: May form homodimers and heterodimers with TMCC2 or TMCC3 via
CC the coiled-coil domains (PubMed:24454821). Interacts with ribosomal
CC proteins RPL4 and RPS6 (PubMed:24454821).
CC {ECO:0000269|PubMed:24454821}.
CC -!- INTERACTION:
CC Q9ULS5; O15482: TEX28P2; NbExp=4; IntAct=EBI-2800326, EBI-751954;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:24454821, ECO:0000269|PubMed:30220460}; Multi-pass
CC membrane protein {ECO:0000255}. Note=Concentrates in discrete patches
CC along peripheral endoplasmic reticulum tubules.
CC {ECO:0000269|PubMed:30220460}.
CC -!- TISSUE SPECIFICITY: Widely expressed, with highest levels in brain,
CC spinal cord and testis. {ECO:0000269|PubMed:27697108}.
CC -!- SIMILARITY: Belongs to the TEX28 family. {ECO:0000305}.
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DR EMBL; AC026672; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC040535; AAH40535.1; -; mRNA.
DR EMBL; AB032971; BAA86459.1; -; mRNA.
DR CCDS; CCDS31877.1; -.
DR RefSeq; NP_001287965.1; NM_001301036.1.
DR RefSeq; NP_065749.2; NM_020698.3.
DR AlphaFoldDB; Q9ULS5; -.
DR SMR; Q9ULS5; -.
DR BioGRID; 121528; 36.
DR IntAct; Q9ULS5; 6.
DR MINT; Q9ULS5; -.
DR STRING; 9606.ENSP00000261226; -.
DR TCDB; 9.B.390.1.1; the tmcc/tex28 (tm-tex) family.
DR iPTMnet; Q9ULS5; -.
DR PhosphoSitePlus; Q9ULS5; -.
DR BioMuta; TMCC3; -.
DR DMDM; 296452938; -.
DR EPD; Q9ULS5; -.
DR jPOST; Q9ULS5; -.
DR MassIVE; Q9ULS5; -.
DR MaxQB; Q9ULS5; -.
DR PaxDb; Q9ULS5; -.
DR PeptideAtlas; Q9ULS5; -.
DR PRIDE; Q9ULS5; -.
DR ProteomicsDB; 85102; -.
DR Antibodypedia; 2821; 78 antibodies from 19 providers.
DR DNASU; 57458; -.
DR Ensembl; ENST00000261226.9; ENSP00000261226.4; ENSG00000057704.13.
DR GeneID; 57458; -.
DR KEGG; hsa:57458; -.
DR MANE-Select; ENST00000261226.9; ENSP00000261226.4; NM_020698.4; NP_065749.3.
DR UCSC; uc001tdj.3; human.
DR CTD; 57458; -.
DR DisGeNET; 57458; -.
DR GeneCards; TMCC3; -.
DR HGNC; HGNC:29199; TMCC3.
DR HPA; ENSG00000057704; Tissue enhanced (brain).
DR MIM; 617459; gene.
DR neXtProt; NX_Q9ULS5; -.
DR OpenTargets; ENSG00000057704; -.
DR PharmGKB; PA134874359; -.
DR VEuPathDB; HostDB:ENSG00000057704; -.
DR eggNOG; KOG3850; Eukaryota.
DR GeneTree; ENSGT00940000157275; -.
DR InParanoid; Q9ULS5; -.
DR OMA; TECSKSG; -.
DR OrthoDB; 1175041at2759; -.
DR PhylomeDB; Q9ULS5; -.
DR TreeFam; TF316292; -.
DR PathwayCommons; Q9ULS5; -.
DR SignaLink; Q9ULS5; -.
DR BioGRID-ORCS; 57458; 12 hits in 1068 CRISPR screens.
DR ChiTaRS; TMCC3; human.
DR GenomeRNAi; 57458; -.
DR Pharos; Q9ULS5; Tdark.
DR PRO; PR:Q9ULS5; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9ULS5; protein.
DR Bgee; ENSG00000057704; Expressed in substantia nigra pars reticulata and 193 other tissues.
DR ExpressionAtlas; Q9ULS5; baseline and differential.
DR Genevisible; Q9ULS5; HS.
DR GO; GO:0012505; C:endomembrane system; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:MGI.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0071889; F:14-3-3 protein binding; IDA:MGI.
DR GO; GO:0042802; F:identical protein binding; IPI:MGI.
DR InterPro; IPR019394; TEX28/TMCC.
DR PANTHER; PTHR17613; PTHR17613; 1.
DR Pfam; PF10267; Tmemb_cc2; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Endoplasmic reticulum; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..477
FT /note="Transmembrane and coiled-coil domain protein 3"
FT /id="PRO_0000184599"
FT TRANSMEM 417..437
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 450..470
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 168..188
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 249..277
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 112..153
FT /evidence="ECO:0000255"
FT COILED 282..398
FT /evidence="ECO:0000255"
FT COMPBIAS 254..277
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 46
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8R310"
FT MOD_RES 253
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8R310"
FT VARIANT 16
FT /note="Y -> D (in dbSNP:rs1274523)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_063144"
FT VARIANT 232
FT /note="P -> Q (in dbSNP:rs17854038)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_063145"
FT CONFLICT 11..26
FT /note="DRTYSYPGRHHRCKSR -> ASCRSCSAPGFAVWPL (in Ref. 3;
FT BAA86459)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 477 AA; 53785 MW; F2326C074C8A558A CRC64;
MPGSDTALTV DRTYSYPGRH HRCKSRVERH DMNTLSLPLN IRRGGSDTNL NFDVPDGILD
FHKVKLTADS LKQKILKVTE QIKIEQTSRD GNVAEYLKLV NNADKQQAGR IKQVFEKKNQ
KSAHSIAQLQ KKLEQYHRKL REIEQNGASR SSKDISKDHL KDIHRSLKDA HVKSRTAPHC
MESSKSGMPG VSLTPPVFVF NKSREFANLI RNKFGSADNI AHLKNSLEEF RPEASARAYG
GSATIVNKPK YGSDDECSSG TSGSADSNGN QSFGAGGAST LDSQGKLAVI LEELREIKDT
QAQLAEDIEA LKVQFKREYG FISQTLQEER YRYERLEDQL HDLTDLHQHE TANLKQELAS
IEEKVAYQAY ERSRDIQEAL ESCQTRISKL ELHQQEQQAL QTDTVNAKVL LGRCINVILA
FMTVILVCVS TIAKFVSPMM KSRCHILGTF FAVTLLAIFC KNWDHILCAI ERMIIPR
