TV23C_HUMAN
ID TV23C_HUMAN Reviewed; 276 AA.
AC Q96ET8; Q3LIC7;
DT 24-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Golgi apparatus membrane protein TVP23 homolog C;
GN Name=TVP23C; Synonyms=FAM18B2; ORFNames=Nbla10383;
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).
RC TISSUE=Neuroblastoma;
RX PubMed=12880961; DOI=10.1016/s0304-3835(03)00085-5;
RA Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S.,
RA Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S.,
RA Hirato J., Nakagawara A.;
RT "Neuroblastoma oligo-capping cDNA project: toward the understanding of the
RT genesis and biology of neuroblastoma.";
RL Cancer Lett. 197:63-68(2003).
RN [2]
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).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ALA-12.
RC TISSUE=Ovary;
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 [5]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96ET8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96ET8-2; Sequence=VSP_017019, VSP_017020;
CC Name=3;
CC IsoId=Q96ET8-3; Sequence=VSP_040556, VSP_040557;
CC -!- SIMILARITY: Belongs to the TVP23 family. {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; AB074181; BAE45741.1; -; mRNA.
DR EMBL; AK310363; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC005517; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005838; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC011952; AAH11952.1; -; mRNA.
DR CCDS; CCDS11170.1; -. [Q96ET8-1]
DR CCDS; CCDS45617.1; -. [Q96ET8-3]
DR RefSeq; NP_001128508.1; NM_001135036.1. [Q96ET8-3]
DR RefSeq; NP_001191407.1; NM_001204478.1. [Q96ET8-2]
DR RefSeq; NP_660344.2; NM_145301.2. [Q96ET8-1]
DR AlphaFoldDB; Q96ET8; -.
DR BioGRID; 128364; 62.
DR BioGRID; 1529434; 1.
DR IntAct; Q96ET8; 14.
DR STRING; 9606.ENSP00000225576; -.
DR iPTMnet; Q96ET8; -.
DR PhosphoSitePlus; Q96ET8; -.
DR BioMuta; TVP23C; -.
DR DMDM; 296439352; -.
DR EPD; Q96ET8; -.
DR jPOST; Q96ET8; -.
DR MassIVE; Q96ET8; -.
DR MaxQB; Q96ET8; -.
DR PaxDb; Q96ET8; -.
DR PeptideAtlas; Q96ET8; -.
DR PRIDE; Q96ET8; -.
DR ProteomicsDB; 76447; -. [Q96ET8-1]
DR ProteomicsDB; 76448; -. [Q96ET8-2]
DR ProteomicsDB; 76449; -. [Q96ET8-3]
DR Antibodypedia; 13138; 36 antibodies from 14 providers.
DR DNASU; 100533496; -.
DR Ensembl; ENST00000225576.7; ENSP00000225576.3; ENSG00000175106.17. [Q96ET8-1]
DR Ensembl; ENST00000518321.6; ENSP00000464052.1; ENSG00000175106.17. [Q96ET8-3]
DR GeneID; 100533496; -.
DR GeneID; 201158; -.
DR KEGG; hsa:100533496; -.
DR KEGG; hsa:201158; -.
DR MANE-Select; ENST00000518321.6; ENSP00000464052.1; NM_001135036.2; NP_001128508.1. [Q96ET8-3]
DR UCSC; uc002goq.3; human. [Q96ET8-1]
DR CTD; 100533496; -.
DR CTD; 201158; -.
DR GeneCards; TVP23C; -.
DR HGNC; HGNC:30453; TVP23C.
DR HPA; ENSG00000175106; Low tissue specificity.
DR neXtProt; NX_Q96ET8; -.
DR OpenTargets; ENSG00000175106; -.
DR OpenTargets; ENSG00000259024; -.
DR PharmGKB; PA142671894; -.
DR VEuPathDB; HostDB:ENSG00000175106; -.
DR eggNOG; KOG3195; Eukaryota.
DR GeneTree; ENSGT00390000004428; -.
DR HOGENOM; CLU_074845_4_0_1; -.
DR InParanoid; Q96ET8; -.
DR OMA; QXHPVAS; -.
DR OrthoDB; 1356321at2759; -.
DR PhylomeDB; Q96ET8; -.
DR TreeFam; TF312906; -.
DR PathwayCommons; Q96ET8; -.
DR SignaLink; Q96ET8; -.
DR BioGRID-ORCS; 100533496; 55 hits in 553 CRISPR screens.
DR BioGRID-ORCS; 201158; 116 hits in 997 CRISPR screens.
DR Pharos; Q96ET8; Tdark.
DR PRO; PR:Q96ET8; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q96ET8; protein.
DR Bgee; ENSG00000175106; Expressed in sural nerve and 104 other tissues.
DR ExpressionAtlas; Q96ET8; baseline and differential.
DR Genevisible; Q96ET8; HS.
DR GO; GO:0030173; C:integral component of Golgi membrane; IBA:GO_Central.
DR GO; GO:0009306; P:protein secretion; IBA:GO_Central.
DR GO; GO:0016192; P:vesicle-mediated transport; IBA:GO_Central.
DR InterPro; IPR008564; TVP23-like.
DR PANTHER; PTHR13019; PTHR13019; 1.
DR Pfam; PF05832; DUF846; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..276
FT /note="Golgi apparatus membrane protein TVP23 homolog C"
FT /id="PRO_0000212831"
FT TRANSMEM 52..72
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 126..146
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 254..276
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:19413330"
FT VAR_SEQ 155..203
FT /note="RRSRHIAQTGLKVLGSRDPPASAFQSAGITGVSRCPGHPSRKFHQVDIN ->
FT AVVIMGVVLQGANLYGYIRCKVRSRKHLTSMATSYFGKQFLRQVSVFWM (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040556"
FT VAR_SEQ 155..164
FT /note="RRSRHIAQTG -> ESEPVMLRNQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12880961"
FT /id="VSP_017019"
FT VAR_SEQ 165..276
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12880961"
FT /id="VSP_017020"
FT VAR_SEQ 204..276
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040557"
FT VARIANT 12
FT /note="D -> A (in dbSNP:rs17850828)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_024929"
FT VARIANT 271
FT /note="L -> Q (in dbSNP:rs12150518)"
FT /id="VAR_055797"
FT CONFLICT 102
FT /note="S -> G (in Ref. 1; BAE45741)"
FT /evidence="ECO:0000305"
FT CONFLICT 195
FT /note="R -> S (in Ref. 4; AAH11952)"
FT /evidence="ECO:0000305"
FT CONFLICT Q96ET8-3:199
FT /note="S -> T (in Ref. 2; AK310363)"
FT /evidence="ECO:0000305"
FT CONFLICT Q96ET8-3:202
FT /note="W -> R (in Ref. 2; AK310363)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 276 AA; 31105 MW; B4FD480CA3234AE2 CRC64;
MLQQDSNDDT EDVSLFDAEE ETTNRPRKAK IRHPVASFFH LFFRVSAIIV CLLCELLSSS
FITCMVTIIL LLSCDFWAVK NVTGRLMVGL RWWNHIDEDG KSHWVFESRK ESSQENKTVS
EAESRIFWLG LIACSVLWVI FAFSALFSFT VKWLRRSRHI AQTGLKVLGS RDPPASAFQS
AGITGVSRCP GHPSRKFHQV DINSFTRITD RALYWKPAPR LSSPPLRAAP GNCQQMAPAR
LFLSLRLWAW RGGGESPNSR GTGEPGPKFH LASGMH
