TLC3A_HUMAN
ID TLC3A_HUMAN Reviewed; 257 AA.
AC Q8TBR7; A8K7Q0; Q7Z464; Q96D97; Q9H6H3;
DT 29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 12-APR-2005, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=TLC domain-containing protein 3A {ECO:0000305};
DE AltName: Full=Protein CT120 {ECO:0000303|PubMed:12270127};
DE AltName: Full=Protein FAM57A;
GN Name=TLCD3A {ECO:0000312|HGNC:HGNC:29646}; Synonyms=FAM57A;
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 2), INTERACTION WITH GGT7 AND SLC3A2,
RP AND TISSUE SPECIFICITY.
RX PubMed=12270127; DOI=10.1016/s0006-291x(02)02227-1;
RA He X.H., Di Y., Li J., Xie Y., Tang Y., Zhang F., Wei L., Zhang Y.,
RA Qin W.X., Huo K., Li Y., Wan D.F., Gu J.R.;
RT "Molecular cloning and characterization of CT120, a novel membrane-
RT associated gene involved in amino acid transport and glutathione
RT metabolism.";
RL Biochem. Biophys. Res. Commun. 297:528-536(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Stomach;
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].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung;
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).
CC -!- SUBUNIT: Interacts with GGT7 isoform 3 and SLC3A2.
CC {ECO:0000269|PubMed:12270127}.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=2; Synonyms=CT120A;
CC IsoId=Q8TBR7-2; Sequence=Displayed;
CC Name=1; Synonyms=CT120B;
CC IsoId=Q8TBR7-1; Sequence=VSP_008149;
CC -!- TISSUE SPECIFICITY: Highly expressed in pancreas. Detected at
CC intermediate levels in heart, placenta and kidney, and at low levels in
CC brain, liver and skeletal muscle. Not detected in normal lung.
CC {ECO:0000269|PubMed:12270127}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/FAM57AID40183ch17p13.html";
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DR EMBL; AF477201; AAM90843.1; -; mRNA.
DR EMBL; AK025935; BAB15286.1; -; mRNA.
DR EMBL; AK292065; BAF84754.1; -; mRNA.
DR EMBL; CH471108; EAW90655.1; -; Genomic_DNA.
DR EMBL; BC009729; AAH09729.1; -; mRNA.
DR EMBL; BC026023; AAH26023.1; -; mRNA.
DR CCDS; CCDS10996.1; -. [Q8TBR7-2]
DR CCDS; CCDS82031.1; -. [Q8TBR7-1]
DR RefSeq; NP_001304935.1; NM_001318006.1. [Q8TBR7-1]
DR RefSeq; NP_001304936.1; NM_001318007.1.
DR RefSeq; NP_001304937.1; NM_001318008.1.
DR RefSeq; NP_079068.1; NM_024792.2. [Q8TBR7-2]
DR AlphaFoldDB; Q8TBR7; -.
DR BioGRID; 122941; 42.
DR IntAct; Q8TBR7; 1.
DR STRING; 9606.ENSP00000312017; -.
DR iPTMnet; Q8TBR7; -.
DR MetOSite; Q8TBR7; -.
DR PhosphoSitePlus; Q8TBR7; -.
DR SwissPalm; Q8TBR7; -.
DR BioMuta; FAM57A; -.
DR DMDM; 62512180; -.
DR jPOST; Q8TBR7; -.
DR MassIVE; Q8TBR7; -.
DR MaxQB; Q8TBR7; -.
DR PaxDb; Q8TBR7; -.
DR PeptideAtlas; Q8TBR7; -.
DR PRIDE; Q8TBR7; -.
DR ProteomicsDB; 74042; -. [Q8TBR7-2]
DR ProteomicsDB; 74043; -. [Q8TBR7-1]
DR Antibodypedia; 77439; 4 antibodies from 3 providers.
DR DNASU; 79850; -.
DR Ensembl; ENST00000301324.8; ENSP00000301324.8; ENSG00000167695.15. [Q8TBR7-1]
DR Ensembl; ENST00000308278.13; ENSP00000312017.7; ENSG00000167695.15. [Q8TBR7-2]
DR GeneID; 79850; -.
DR KEGG; hsa:79850; -.
DR MANE-Select; ENST00000308278.13; ENSP00000312017.7; NM_024792.3; NP_079068.1.
DR UCSC; uc002frp.4; human. [Q8TBR7-2]
DR CTD; 79850; -.
DR DisGeNET; 79850; -.
DR GeneCards; TLCD3A; -.
DR HGNC; HGNC:29646; TLCD3A.
DR HPA; ENSG00000167695; Tissue enhanced (skin).
DR MIM; 611627; gene.
DR neXtProt; NX_Q8TBR7; -.
DR OpenTargets; ENSG00000167695; -.
DR PharmGKB; PA142671861; -.
DR VEuPathDB; HostDB:ENSG00000167695; -.
DR eggNOG; KOG4561; Eukaryota.
DR GeneTree; ENSGT01010000222313; -.
DR HOGENOM; CLU_049796_0_0_1; -.
DR InParanoid; Q8TBR7; -.
DR OMA; IYDRHWL; -.
DR OrthoDB; 1354968at2759; -.
DR PhylomeDB; Q8TBR7; -.
DR TreeFam; TF324847; -.
DR PathwayCommons; Q8TBR7; -.
DR SignaLink; Q8TBR7; -.
DR BioGRID-ORCS; 79850; 14 hits in 1084 CRISPR screens.
DR ChiTaRS; FAM57A; human.
DR GenomeRNAi; 79850; -.
DR Pharos; Q8TBR7; Tdark.
DR PRO; PR:Q8TBR7; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8TBR7; protein.
DR Bgee; ENSG00000167695; Expressed in skin of abdomen and 141 other tissues.
DR ExpressionAtlas; Q8TBR7; baseline and differential.
DR Genevisible; Q8TBR7; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0055088; P:lipid homeostasis; IBA:GO_Central.
DR InterPro; IPR006634; TLC-dom.
DR Pfam; PF03798; TRAM_LAG1_CLN8; 1.
DR SMART; SM00724; TLC; 1.
DR PROSITE; PS50922; TLC; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..257
FT /note="TLC domain-containing protein 3A"
FT /id="PRO_0000185540"
FT TRANSMEM 1..21
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 42..62
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 77..97
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 113..135
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 142..162
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 181..201
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 220..240
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 33..249
FT /note="TLC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00205"
FT VAR_SEQ 137..168
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_008149"
FT CONFLICT 25
FT /note="R -> H (in Ref. 1; AAM90843)"
FT /evidence="ECO:0000305"
FT CONFLICT 129
FT /note="F -> L (in Ref. 1; AAM90843)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 257 AA; 29383 MW; C799BF7143A6DA01 CRC64;
MLLTLAGGAL FFPGLFALCT WALRRSQPGW SRTDCVMIST RLVSSVHAVL ATGSGIVIIR
SCDDVITGRH WLAREYVWFL IPYMIYDSYA MYLCEWCRTR DQNRAPSLTL RNFLSRNRLM
ITHHAVILFV LVPVAQRLRG DLGDFFVGCI FTAELSTPFV SLGRVLIQLK QQHTLLYKVN
GILTLATFLS CRILLFPFMY WSYGRQQGLS LLQVPFSIPF YCNVANAFLV APQIYWFCLL
CRKAVRLFDT PQAKKDG
