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