TM40L_HUMAN
ID TM40L_HUMAN Reviewed; 308 AA.
AC Q969M1; B7Z4U0; D3DVG9;
DT 07-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Mitochondrial import receptor subunit TOM40B;
DE AltName: Full=Protein TOMM40-like;
GN Name=TOMM40L; Synonyms=TOMM40B;
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 AND 2).
RC TISSUE=Heart;
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 MRNA] (ISOFORM 1).
RC TISSUE=Retina;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skin;
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 [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] ASN-100.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Potential channel-forming protein implicated in import of
CC protein precursors into mitochondria. {ECO:0000250}.
CC -!- SUBUNIT: Forms part of the preprotein translocase of the outer
CC mitochondrial membrane (TOM complex) containing TOMM22, TOMM40, TOMM40L
CC and TOMM70. Interacts with mitochondrial targeting sequences (By
CC similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250};
CC Multi-pass membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q969M1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q969M1-2; Sequence=VSP_054885;
CC -!- SIMILARITY: Belongs to the Tom40 family. {ECO:0000305}.
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DR EMBL; AK027704; BAB55309.1; -; mRNA.
DR EMBL; AK297848; BAH12676.1; -; mRNA.
DR EMBL; BX537951; CAD97918.1; -; mRNA.
DR EMBL; AL590714; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW52611.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW52615.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW52616.1; -; Genomic_DNA.
DR EMBL; BC014946; AAH14946.1; -; mRNA.
DR CCDS; CCDS1227.1; -. [Q969M1-1]
DR CCDS; CCDS65700.1; -. [Q969M1-2]
DR RefSeq; NP_001273302.1; NM_001286373.1. [Q969M1-2]
DR RefSeq; NP_115550.2; NM_032174.5. [Q969M1-1]
DR RefSeq; XP_006711635.1; XM_006711572.2. [Q969M1-1]
DR RefSeq; XP_016857970.1; XM_017002481.1. [Q969M1-1]
DR RefSeq; XP_016857971.1; XM_017002482.1. [Q969M1-2]
DR AlphaFoldDB; Q969M1; -.
DR SMR; Q969M1; -.
DR BioGRID; 123906; 8.
DR IntAct; Q969M1; 2.
DR STRING; 9606.ENSP00000356967; -.
DR iPTMnet; Q969M1; -.
DR PhosphoSitePlus; Q969M1; -.
DR BioMuta; TOMM40L; -.
DR DMDM; 74751722; -.
DR EPD; Q969M1; -.
DR jPOST; Q969M1; -.
DR MassIVE; Q969M1; -.
DR MaxQB; Q969M1; -.
DR PaxDb; Q969M1; -.
DR PeptideAtlas; Q969M1; -.
DR PRIDE; Q969M1; -.
DR ProteomicsDB; 6633; -.
DR ProteomicsDB; 75790; -. [Q969M1-1]
DR Antibodypedia; 34305; 100 antibodies from 18 providers.
DR DNASU; 84134; -.
DR Ensembl; ENST00000367987.1; ENSP00000356966.1; ENSG00000158882.15. [Q969M1-1]
DR Ensembl; ENST00000367988.8; ENSP00000356967.3; ENSG00000158882.15. [Q969M1-1]
DR Ensembl; ENST00000545897.5; ENSP00000443233.1; ENSG00000158882.15. [Q969M1-2]
DR GeneID; 84134; -.
DR KEGG; hsa:84134; -.
DR MANE-Select; ENST00000367988.8; ENSP00000356967.3; NM_032174.6; NP_115550.2.
DR UCSC; uc001fzd.5; human. [Q969M1-1]
DR CTD; 84134; -.
DR DisGeNET; 84134; -.
DR GeneCards; TOMM40L; -.
DR HGNC; HGNC:25756; TOMM40L.
DR HPA; ENSG00000158882; Tissue enhanced (tongue).
DR neXtProt; NX_Q969M1; -.
DR OpenTargets; ENSG00000158882; -.
DR PharmGKB; PA142670714; -.
DR VEuPathDB; HostDB:ENSG00000158882; -.
DR eggNOG; KOG3296; Eukaryota.
DR GeneTree; ENSGT00390000003308; -.
DR HOGENOM; CLU_054399_0_0_1; -.
DR InParanoid; Q969M1; -.
DR OMA; MNLPCPV; -.
DR OrthoDB; 1346842at2759; -.
DR PhylomeDB; Q969M1; -.
DR TreeFam; TF106204; -.
DR PathwayCommons; Q969M1; -.
DR SignaLink; Q969M1; -.
DR BioGRID-ORCS; 84134; 11 hits in 1079 CRISPR screens.
DR ChiTaRS; TOMM40L; human.
DR GeneWiki; TOMM40L; -.
DR GenomeRNAi; 84134; -.
DR Pharos; Q969M1; Tdark.
DR PRO; PR:Q969M1; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q969M1; protein.
DR Bgee; ENSG00000158882; Expressed in left ventricle myocardium and 155 other tissues.
DR Genevisible; Q969M1; HS.
DR GO; GO:0005742; C:mitochondrial outer membrane translocase complex; IBA:GO_Central.
DR GO; GO:0046930; C:pore complex; IEA:UniProtKB-KW.
DR GO; GO:0032991; C:protein-containing complex; IDA:LIFEdb.
DR GO; GO:0030943; F:mitochondrion targeting sequence binding; IEA:Ensembl.
DR GO; GO:0015288; F:porin activity; IEA:UniProtKB-KW.
DR GO; GO:0070678; F:preprotein binding; IEA:Ensembl.
DR GO; GO:0008320; F:protein transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0006811; P:ion transport; IEA:UniProtKB-KW.
DR GO; GO:0030150; P:protein import into mitochondrial matrix; IBA:GO_Central.
DR CDD; cd07305; Porin3_Tom40; 1.
DR Gene3D; 2.40.160.10; -; 1.
DR InterPro; IPR023614; Porin_dom_sf.
DR InterPro; IPR027246; Porin_Euk/Tom40.
DR InterPro; IPR037930; Tom40.
DR PANTHER; PTHR10802; PTHR10802; 1.
DR Pfam; PF01459; Porin_3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Ion transport; Membrane; Mitochondrion;
KW Mitochondrion outer membrane; Porin; Protein transport; Reference proteome;
KW Transmembrane; Transmembrane beta strand; Transport.
FT CHAIN 1..308
FT /note="Mitochondrial import receptor subunit TOM40B"
FT /id="PRO_0000051536"
FT REGION 1..29
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 281..308
FT /note="Required for mitochondrial targeting"
FT /evidence="ECO:0000250"
FT COMPBIAS 15..29
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 93..126
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054885"
FT VARIANT 100
FT /note="D -> N (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035815"
SQ SEQUENCE 308 AA; 33917 MW; B4347CD0610434D3 CRC64;
MGNTLGLAPM GTLPRRSPRR EEPLPNPGSF DELHRLCKDV FPAQMEGVKL VVNKVLSSHF
QVAHTIHMSA LGLPGYHLHA AYAGDWQLSP TEVFPTVVGD MDSSGSLNAQ VLLLLAERLR
AKAVFQTQQA KFLTWQFDGE YRGDDYTATL TLGNPDLIGE SVIMVAHFLQ SLTHRLVLGG
ELVYHRRPGE EGAILTLAGK YSAVHWVATL NVGSGGAHAS YYHRANEQVQ VGVEFEANTR
LQDTTFSFGY HLTLPQANMV FRGLVDSNWC VGAVLEKKMP PLPVTLALGA FLNHWRNRFH
CGFSITVG
