TM135_HUMAN
ID TM135_HUMAN Reviewed; 458 AA.
AC Q86UB9; Q6AW91; Q8ND01; Q9H6M3;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Transmembrane protein 135;
DE AltName: Full=Peroxisomal membrane protein 52 {ECO:0000250|UniProtKB:Q9CYV5};
DE Short=PMP52 {ECO:0000250|UniProtKB:Q9CYV5};
GN Name=TMEM135 {ECO:0000312|HGNC:HGNC:26167};
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), AND VARIANT ARG-218.
RC TISSUE=Endometrial adenocarcinoma, and Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
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 1), AND VARIANTS HIS-193
RP AND ARG-218.
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 63-458 (ISOFORM 2), AND VARIANT
RP ARG-218.
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 [5]
RP DEVELOPMENTAL STAGE.
RX PubMed=18637193; DOI=10.1186/1471-2164-9-340;
RA Scheideler M., Elabd C., Zaragosi L.E., Chiellini C., Hackl H.,
RA Sanchez-Cabo F., Yadav S., Duszka K., Friedl G., Papak C., Prokesch A.,
RA Windhager R., Ailhaud G., Dani C., Amri E.Z., Trajanoski Z.;
RT "Comparative transcriptomics of human multipotent stem cells during
RT adipogenesis and osteoblastogenesis.";
RL BMC Genomics 9:340-340(2008).
CC -!- FUNCTION: Involved in mitochondrial metabolism by regulating the
CC balance between mitochondrial fusion and fission. May act as a
CC regulator of mitochondrial fission that promotes DNM1L-dependent
CC fission through activation of DNM1L. May be involved in peroxisome
CC organization. {ECO:0000250|UniProtKB:Q5U4F4,
CC ECO:0000250|UniProtKB:Q9CYV5}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion membrane
CC {ECO:0000250|UniProtKB:Q9CYV5}; Multi-pass membrane protein
CC {ECO:0000250|UniProtKB:Q9CYV5}. Peroxisome membrane
CC {ECO:0000250|UniProtKB:Q9CYV5}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86UB9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86UB9-2; Sequence=VSP_024579;
CC -!- DEVELOPMENTAL STAGE: Up-regulated in bone marrow-derived mesenchymal
CC stem cells during differentiation into adipocytes compared to
CC osteoblasts. {ECO:0000269|PubMed:18637193}.
CC -!- SIMILARITY: Belongs to the TMEM135 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15233.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL834493; CAD39151.1; -; mRNA.
DR EMBL; BX648678; CAH10546.1; -; mRNA.
DR EMBL; AP000811; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001102; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP002967; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC051462; AAH51462.2; -; mRNA.
DR EMBL; AK025757; BAB15233.1; ALT_INIT; mRNA.
DR CCDS; CCDS53692.1; -. [Q86UB9-2]
DR CCDS; CCDS8280.1; -. [Q86UB9-1]
DR RefSeq; NP_001162195.1; NM_001168724.1. [Q86UB9-2]
DR RefSeq; NP_075069.3; NM_022918.3. [Q86UB9-1]
DR AlphaFoldDB; Q86UB9; -.
DR BioGRID; 122392; 9.
DR IntAct; Q86UB9; 4.
DR STRING; 9606.ENSP00000306344; -.
DR iPTMnet; Q86UB9; -.
DR PhosphoSitePlus; Q86UB9; -.
DR BioMuta; TMEM135; -.
DR DMDM; 215273901; -.
DR EPD; Q86UB9; -.
DR jPOST; Q86UB9; -.
DR MassIVE; Q86UB9; -.
DR MaxQB; Q86UB9; -.
DR PaxDb; Q86UB9; -.
DR PeptideAtlas; Q86UB9; -.
DR PRIDE; Q86UB9; -.
DR ProteomicsDB; 69795; -. [Q86UB9-1]
DR ProteomicsDB; 69796; -. [Q86UB9-2]
DR Antibodypedia; 31460; 51 antibodies from 19 providers.
DR DNASU; 65084; -.
DR Ensembl; ENST00000305494.6; ENSP00000306344.5; ENSG00000166575.17. [Q86UB9-1]
DR Ensembl; ENST00000340353.11; ENSP00000345513.6; ENSG00000166575.17. [Q86UB9-2]
DR GeneID; 65084; -.
DR KEGG; hsa:65084; -.
DR MANE-Select; ENST00000305494.6; ENSP00000306344.5; NM_022918.4; NP_075069.3.
DR UCSC; uc001pch.4; human. [Q86UB9-1]
DR CTD; 65084; -.
DR DisGeNET; 65084; -.
DR GeneCards; TMEM135; -.
DR HGNC; HGNC:26167; TMEM135.
DR HPA; ENSG00000166575; Low tissue specificity.
DR MIM; 616360; gene.
DR neXtProt; NX_Q86UB9; -.
DR OpenTargets; ENSG00000166575; -.
DR PharmGKB; PA143485658; -.
DR VEuPathDB; HostDB:ENSG00000166575; -.
DR eggNOG; KOG1398; Eukaryota.
DR GeneTree; ENSGT00390000000303; -.
DR HOGENOM; CLU_046474_0_0_1; -.
DR InParanoid; Q86UB9; -.
DR OMA; TDKCVNA; -.
DR OrthoDB; 706534at2759; -.
DR PhylomeDB; Q86UB9; -.
DR TreeFam; TF314580; -.
DR PathwayCommons; Q86UB9; -.
DR SignaLink; Q86UB9; -.
DR BioGRID-ORCS; 65084; 9 hits in 1079 CRISPR screens.
DR ChiTaRS; TMEM135; human.
DR GenomeRNAi; 65084; -.
DR Pharos; Q86UB9; Tdark.
DR PRO; PR:Q86UB9; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q86UB9; protein.
DR Bgee; ENSG00000166575; Expressed in jejunal mucosa and 197 other tissues.
DR ExpressionAtlas; Q86UB9; baseline and differential.
DR Genevisible; Q86UB9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005811; C:lipid droplet; IEA:Ensembl.
DR GO; GO:0031966; C:mitochondrial membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005778; C:peroxisomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005777; C:peroxisome; ISS:UniProtKB.
DR GO; GO:0007031; P:peroxisome organization; ISS:UniProtKB.
DR GO; GO:0090140; P:regulation of mitochondrial fission; IEA:Ensembl.
DR GO; GO:0009409; P:response to cold; IEA:Ensembl.
DR GO; GO:0032094; P:response to food; IEA:Ensembl.
DR InterPro; IPR026749; Tmem135.
DR InterPro; IPR031926; TMEM135_N.
DR PANTHER; PTHR12459; PTHR12459; 1.
DR Pfam; PF15982; TMEM135_C_rich; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Mitochondrion; Peroxisome;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..458
FT /note="Transmembrane protein 135"
FT /id="PRO_0000284622"
FT TRANSMEM 68..88
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 96..116
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 149..169
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 298..318
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 331..351
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 380..400
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 133..154
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_024579"
FT VARIANT 193
FT /note="P -> H (in dbSNP:rs17854687)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031787"
FT VARIANT 218
FT /note="G -> R (in dbSNP:rs2276102)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_031788"
FT VARIANT 430
FT /note="G -> A (in dbSNP:rs11235097)"
FT /id="VAR_031789"
FT CONFLICT 339
FT /note="I -> T (in Ref. 4; BAB15233)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 458 AA; 52291 MW; B6BDEC84237D5FE2 CRC64;
MAALSKSIPH NCYEIGHTWH PSCRVSFLQI TGGALEESLK IYAPLYLIAA ILRKRKLDYY
LHKLLPEILQ SASFLTANGA LYMAFFCILR KILGKFYSWT PGFGAALPAS YVAILIERKS
RRGLLTIYMA NLATETLFRM GVARGTITTL RNGEVLLFCI TAAMYMFFFR CKDGLKGFTF
SALRFIVGKE EIPTHSFSPE AAYAKVEQKR EQHEEKPGRM NMIGLVRKFV DSICKHGPRH
RCCKHYEDNC ISYCIKGFIR MFSVGYLIQC CLRIPSAFRH LFTQPSRLLS LFYNKENFQL
GAFLGSFVSI YKGTSCFLRW IRNLDDELHA IIAGFLAGIS MMFYKSTTIS MYLASKLVET
MYFKGIEAGK VPYFPHADTI IYSISTAICF QAAVMEVQTL RPSYWKFLLR LTKGKFAVMN
RKVLDVFGTG ASKHFQDFIP RLDPRYTTVT PELPTEFS
