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TLCD5_HUMAN
ID   TLCD5_HUMAN             Reviewed;         245 AA.
AC   Q6ZRR5; B4DGQ4; B4E230; Q8IZ79;
DT   01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT   05-OCT-2010, sequence version 2.
DT   03-AUG-2022, entry version 119.
DE   RecName: Full=TLC domain-containing protein 5 {ECO:0000305};
DE   AltName: Full=Transmembrane protein 136;
GN   Name=TLCD5 {ECO:0000312|HGNC:HGNC:28280}; Synonyms=TMEM136;
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] (ISOFORMS 1; 2 AND 3).
RC   TISSUE=Brain, Testis, and Trachea;
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16554811; DOI=10.1038/nature04632;
RA   Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA   Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA   Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA   Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA   Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA   Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT   "Human chromosome 11 DNA sequence and analysis including novel gene
RT   identification.";
RL   Nature 440:497-500(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC   TISSUE=Pancreas;
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   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC       protein {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1;
CC         IsoId=Q6ZRR5-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q6ZRR5-2; Sequence=VSP_024871;
CC       Name=3;
CC         IsoId=Q6ZRR5-3; Sequence=VSP_039853;
CC       Name=4;
CC         IsoId=Q6ZRR5-4; Sequence=VSP_039853, VSP_024871;
CC   -!- SIMILARITY: Belongs to the TLCD5 family. {ECO:0000305}.
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DR   EMBL; AK128040; BAC87244.1; -; mRNA.
DR   EMBL; AK294713; BAG57865.1; -; mRNA.
DR   EMBL; AK304086; BAG64992.1; -; mRNA.
DR   EMBL; AP001150; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC015232; AAH15232.2; -; mRNA.
DR   CCDS; CCDS55792.1; -. [Q6ZRR5-3]
DR   CCDS; CCDS55793.1; -. [Q6ZRR5-1]
DR   CCDS; CCDS8432.1; -. [Q6ZRR5-4]
DR   RefSeq; NP_001185599.1; NM_001198670.1. [Q6ZRR5-3]
DR   RefSeq; NP_001185600.1; NM_001198671.1. [Q6ZRR5-1]
DR   RefSeq; NP_001185601.1; NM_001198672.1.
DR   RefSeq; NP_001185602.1; NM_001198673.1.
DR   RefSeq; NP_001185603.1; NM_001198674.1. [Q6ZRR5-2]
DR   RefSeq; NP_001185604.1; NM_001198675.1.
DR   RefSeq; NP_777586.1; NM_174926.2. [Q6ZRR5-4]
DR   RefSeq; XP_016872816.1; XM_017017327.1.
DR   AlphaFoldDB; Q6ZRR5; -.
DR   BioGRID; 128593; 29.
DR   STRING; 9606.ENSP00000312672; -.
DR   BioMuta; TMEM136; -.
DR   DMDM; 308153509; -.
DR   PaxDb; Q6ZRR5; -.
DR   PeptideAtlas; Q6ZRR5; -.
DR   PRIDE; Q6ZRR5; -.
DR   Antibodypedia; 71703; 17 antibodies from 9 providers.
DR   DNASU; 219902; -.
DR   Ensembl; ENST00000314475.6; ENSP00000312672.2; ENSG00000181264.9. [Q6ZRR5-3]
DR   Ensembl; ENST00000375095.3; ENSP00000364236.3; ENSG00000181264.9. [Q6ZRR5-1]
DR   Ensembl; ENST00000529187.1; ENSP00000434862.1; ENSG00000181264.9. [Q6ZRR5-4]
DR   GeneID; 219902; -.
DR   KEGG; hsa:219902; -.
DR   MANE-Select; ENST00000375095.3; ENSP00000364236.3; NM_001198671.2; NP_001185600.1.
DR   UCSC; uc001pxg.4; human. [Q6ZRR5-1]
DR   CTD; 219902; -.
DR   DisGeNET; 219902; -.
DR   GeneCards; TLCD5; -.
DR   HGNC; HGNC:28280; TLCD5.
DR   HPA; ENSG00000181264; Tissue enhanced (retina).
DR   neXtProt; NX_Q6ZRR5; -.
DR   OpenTargets; ENSG00000181264; -.
DR   PharmGKB; PA144596257; -.
DR   VEuPathDB; HostDB:ENSG00000181264; -.
DR   eggNOG; KOG4474; Eukaryota.
DR   GeneTree; ENSGT00390000008162; -.
DR   HOGENOM; CLU_083447_0_0_1; -.
DR   InParanoid; Q6ZRR5; -.
DR   OrthoDB; 1353190at2759; -.
DR   PhylomeDB; Q6ZRR5; -.
DR   TreeFam; TF329126; -.
DR   PathwayCommons; Q6ZRR5; -.
DR   BioGRID-ORCS; 219902; 10 hits in 1081 CRISPR screens.
DR   ChiTaRS; TMEM136; human.
DR   GenomeRNAi; 219902; -.
DR   Pharos; Q6ZRR5; Tdark.
DR   PRO; PR:Q6ZRR5; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   RNAct; Q6ZRR5; protein.
DR   Bgee; ENSG00000181264; Expressed in oviduct epithelium and 145 other tissues.
DR   Genevisible; Q6ZRR5; HS.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   InterPro; IPR006634; TLC-dom.
DR   InterPro; IPR042512; TLCD5.
DR   PANTHER; PTHR31898; PTHR31898; 1.
DR   Pfam; PF03798; TRAM_LAG1_CLN8; 1.
DR   SMART; SM00724; TLC; 1.
DR   PROSITE; PS50922; TLC; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW   Transmembrane helix.
FT   CHAIN           1..245
FT                   /note="TLC domain-containing protein 5"
FT                   /id="PRO_0000285583"
FT   TRANSMEM        1..21
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        38..58
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        75..95
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        99..119
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        162..182
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        191..211
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   DOMAIN          29..204
FT                   /note="TLC"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00205"
FT   VAR_SEQ         1
FT                   /note="M -> MTQCCFLRVHPLFFWFWSFHHRM (in isoform 3 and
FT                   isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_039853"
FT   VAR_SEQ         91..210
FT                   /note="WCVYFQSEGALMLAHHTLSILGIIMALVLGESGTEVNAVLFGSELTNPLLQM
FT                   RWFLRETGHYHSFTGDVVDFLFVALFTGVRIGVGACLLFCEMVSPTPKWFVKAGGVAMY
FT                   AVSWCFMFS -> C (in isoform 2 and isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_024871"
FT   CONFLICT        102
FT                   /note="M -> I (in Ref. 1; BAC87244)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        130
FT                   /note="L -> P (in Ref. 1; BAG64992)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   245 AA;  27859 MW;  18BC58C2528DDB61 CRC64;
     MALALCLQVL CSLCGWLSLY ISFCHLNKHR SYEWSCRLVT FTHGVLSIGL SAYIGFIDGP
     WPFTHPGSPN TPLQVHVLCL TLGYFIFDLG WCVYFQSEGA LMLAHHTLSI LGIIMALVLG
     ESGTEVNAVL FGSELTNPLL QMRWFLRETG HYHSFTGDVV DFLFVALFTG VRIGVGACLL
     FCEMVSPTPK WFVKAGGVAM YAVSWCFMFS IWRFAWRKSI KKYHAWRSRR SEERQLKHNG
     HLKIH
 
 
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