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Identification
HMDB Protein ID HMDBP01619
Secondary Accession Numbers
  • 6942
Name Microsomal triglyceride transfer protein large subunit
Synonyms Not Available
Gene Name MTTP
Protein Type Transporter
Biological Properties
General Function Involved in lipid transporter activity
Specific Function Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B
Pathways Not Available
Reactions Not Available
GO Classification
Function
transporter activity
substrate-specific transporter activity
lipid transporter activity
Process
establishment of localization
transport
lipid transport
Cellular Location
  1. Endoplasmic reticulum
Gene Properties
Chromosome Location Chromosome:4
Locus 4q24
SNPs MTTP
Gene Sequence
>2685 bp
ATGATTCTTCTTGCTGTGCTTTTTCTCTGCTTCATTTCCTCATATTCAGCTTCTGTTAAA
GGTCACACAACTGGTCTCTCATTAAATAATGACCGGCTGTACAAGCTCACGTACTCCACT
GAAGTTCTTCTTGATCGGGGCAAAGGAAAACTGCAAGACAGCGTGGGCTACCGCATTTCC
TCCAACGTGGATGTGGCCTTACTATGGAGGAATCCTGATGGTGATGATGACCAGTTGATC
CAAATAACGATGAAGGATGTAAATGTTGAAAATGTGAATCAGCAGAGAGGAGAGAAGAGC
ATCTTCAAAGGAAAAAGCCCATCTAAAATAATGGGAAAGGAAAACTTGGAAGCTCTGCAA
AGACCTACGCTCCTTCATCTAATCCATGGAAAGGTCAAAGAGTTCTACTCATATCAAAAT
GAGGCAGTGGCCATAGAAAATATCAAGAGAGGTCTGGCTAGCCTATTTCAGACACAGTTA
AGCTCTGGAACCACCAATGAGGTAGATATCTCTGGAAATTGTAAAGTGACCTACCAGGCT
CATCAAGACAAAGTGATCAAAATTAAGGCCTTGGATTCATGCAAAATAGCGAGGTCTGGA
TTTACGACCCCAAATCAGGTCTTGGGTGTCAGTTCAAAAGCTACATCTGTCACCACCTAT
AAGATAGAAGACAGCTTTGTTATAGCTGTGCTTGCTGAAGAAACACACAATTTTGGACTG
AATTTCCTACAAACCATTAAGGGGAAAATAGTATCGAAGCAGAAATTAGAGCTGAAGACA
ACCGAAGCAGGCCCAAGATTGATGTCTGGAAAGCAGGCTGCAGCCATAATCAAAGCAGTT
GATTCAAAGTACACGGCCATTCCCATTGTGGGGCAGGTCTTCCAGAGCCACTGTAAAGGA
TGTCCTTCTCTCTCGGAGCTCTGGCGGTCCACCAGGAAATACCTGCAGCCTGACAACCTT
TCCAAGGCTGAGGCTGTCAGAAACTTCCTGGCCTTCATTCAGCACCTCAGGACTGCGAAG
AAAGAAGAGATCCTTCAAATACTAAAGATGGAAAATAAGGAAGTATTACCTCAGCTGGTG
GATGCTGTCACCTCTGCTCAGACCTCAGACTCATTAGAAGCCATTTTGGACTTTTTGGAT
TTCAAAAGTGACAGCAGCATTATCCTCCAGGAGAGGTTTCTCTATGCCTGTGGATTTGCT
TCTCATCCCAATGAAGAACTCCTGAGAGCCCTCATTAGTAAGTTCAAAGGTTCTATTGGT
AGCAGTGACATCAGAGAAACTGTTATGATCATCACTGGGACACTTGTCAGAAAGTTGTGT
CAGAATGAAGGCTGCAAACTCAAAGCAGTAGTGGAAGCTAAGAAGTTAATCCTGGGAGGA
CTTGAAAAAGCAGAGAAAAAAGAGGACACCAGGATGTATCTGCTGGCTTTGAAGAATGCC
CTGCTTCCAGAAGGCATCCCAAGTCTTCTGAAGTATGCAGAAGCAGGAGAAGGGCCCATC
AGCCACCTGGCTACCACTGCTCTCCAGAGATATGATCTCCCTTTCATAACTGATGAGGTG
AAGAAGACCTTAAACAGAATATACCACCAAAACCGTAAAGTTCATGAAAAGACTGTGCGC
ACTGCTGCAGCTGCTATCATTTTAAATAACAATCCATCCTACATGGACGTCAAGAACATC
CTGCTGTCTATTGGGGAGCTTCCCCAAGAAATGAATAAATACATGCTCGCCATTGTTCAA
GACATCCTACGTTTTGAAATGCCTGCAAGCAAAATTGTCCGTCGAGTTCTGAAGGAAATG
GTCGCTCACAATTATGACCGTTTCTCCAGGAGTGGATCTTCTTCTGCCTACACTGGCTAC
ATAGAACGTAGTCCCCGTTCGGCATCTACTTACAGCCTAGACATTCTCTACTCGGGTTCT
GGCATTCTAAGGAGAAGTAACCTGAACATCTTTCAGTACATTGGGAAGGCTGGTCTTCAC
GGTAGCCAGGTGGTTATTGAAGCCCAAGGACTGGAAGCCTTAATCGCAGCCACCCCTGAC
GAGGGGGAGGAGAACCTTGACTCCTATGCTGGTATGTCAGCCATCCTCTTTGATGTTCAG
CTCAGACCTGTCACCTTTTTCAACGGATACAGTGATTTGATGTCCAAAATGCTGTCAGCA
TCTGGCGACCCTATCAGTGTGGTGAAAGGACTTATTCTGCTAATAGATCATTCTCAGGAA
CTTCAGTTACAATCTGGACTAAAAGCCAATATAGAGGTCCAGGGTGGTCTAGCTATTGAT
ATTTCAGGTGCAATGGAGTTTAGCTTGTGGTATCGTGAGTCTAAAACCCGAGTGAAAAAT
AGGGTGACTGTGGTAATAACCACTGACATCACAGTGGACTCCTCTTTTGTGAAAGCTGGC
CTGGAAACCAGTACAGAAACAGAAGCAGGCTTGGAGTTTATCTCCACAGTGCAGTTTTCT
CAGTACCCATTCTTAGTTTGCATGCAGATGGACAAGGATGAAGCTCCATTCAGGCAATTT
GAGAAAAAGTACGAAAGGCTGTCCACAGGCAGAGGTTATGTCTCTCAGAAAAGAAAAGAA
AGCGTATTAGCAGGATGTGAATTCCCGCTCCATCAAGAGAACTCAGAGATGTGCAAAGTG
GTGTTTGCCCCTCAGCCGGATAGTACTTCCAGCGGATGGTTTTGA
Protein Properties
Number of Residues 894
Molecular Weight 99350.3
Theoretical pI 8.62
Pfam Domain Function
Signals
  • 1-18
Transmembrane Regions
  • None
Protein Sequence
>Microsomal triglyceride transfer protein large subunit
MILLAVLFLCFISSYSASVKGHTTGLSLNNDRLYKLTYSTEVLLDRGKGKLQDSVGYRIS
SNVDVALLWRNPDGDDDQLIQITMKDVNVENVNQQRGEKSIFKGKSPSKIMGKENLEALQ
RPTLLHLIHGKVKEFYSYQNEAVAIENIKRGLASLFQTQLSSGTTNEVDISGNCKVTYQA
HQDKVIKIKALDSCKIARSGFTTPNQVLGVSSKATSVTTYKIEDSFVIAVLAEETHNFGL
NFLQTIKGKIVSKQKLELKTTEAGPRLMSGKQAAAIIKAVDSKYTAIPIVGQVFQSHCKG
CPSLSELWRSTRKYLQPDNLSKAEAVRNFLAFIQHLRTAKKEEILQILKMENKEVLPQLV
DAVTSAQTSDSLEAILDFLDFKSDSSIILQERFLYACGFASHPNEELLRALISKFKGSIG
SSDIRETVMIITGTLVRKLCQNEGCKLKAVVEAKKLILGGLEKAEKKEDTRMYLLALKNA
LLPEGIPSLLKYAEAGEGPISHLATTALQRYDLPFITDEVKKTLNRIYHQNRKVHEKTVR
TAAAAIILNNNPSYMDVKNILLSIGELPQEMNKYMLAIVQDILRFEMPASKIVRRVLKEM
VAHNYDRFSRSGSSSAYTGYIERSPRSASTYSLDILYSGSGILRRSNLNIFQYIGKAGLH
GSQVVIEAQGLEALIAATPDEGEENLDSYAGMSAILFDVQLRPVTFFNGYSDLMSKMLSA
SGDPISVVKGLILLIDHSQELQLQSGLKANIEVQGGLAIDISGAMEFSLWYRESKTRVKN
RVTVVITTDITVDSSFVKAGLETSTETEAGLEFISTVQFSQYPFLVCMQMDKDEAPFRQF
EKKYERLSTGRGYVSQKRKESVLAGCEFPLHQENSEMCKVVFAPQPDSTSSGWF
GenBank ID Protein 414669
UniProtKB/Swiss-Prot ID P55157
UniProtKB/Swiss-Prot Entry Name MTP_HUMAN
PDB IDs Not Available
GenBank Gene ID X75500
GeneCard ID MTTP
GenAtlas ID MTTP
HGNC ID HGNC:7467
References
General References
  1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Shoulders CC, Brett DJ, Bayliss JD, Narcisi TM, Jarmuz A, Grantham TT, Leoni PR, Bhattacharya S, Pease RJ, Cullen PM, et al.: Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum Mol Genet. 1993 Dec;2(12):2109-16. [PubMed:8111381 ]
  4. Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wager-Smith K, Gil CM, Turck CW, Bouma ME, Rader DJ, et al.: Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature. 1993 Sep 2;365(6441):65-9. [PubMed:8361539 ]
  5. Sharp D, Ricci B, Kienzle B, Lin MC, Wetterau JR: Human microsomal triglyceride transfer protein large subunit gene structure. Biochemistry. 1994 Aug 9;33(31):9057-61. [PubMed:7545943 ]
  6. Hagan DL, Kienzle B, Jamil H, Hariharan N: Transcriptional regulation of human and hamster microsomal triglyceride transfer protein genes. Cell type-specific expression and response to metabolic regulators. J Biol Chem. 1994 Nov 18;269(46):28737-44. [PubMed:7961826 ]
  7. Shoulders CC, Narcisi TM, Read J, Chester A, Brett DJ, Scott J, Anderson TA, Levitt DG, Banaszak LJ: The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain. Nat Struct Biol. 1994 May;1(5):285-6. [PubMed:7664034 ]
  8. Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF, Povey S, de Bruin TW, et al.: Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet. 1995 Dec;57(6):1298-310. [PubMed:8533758 ]
  9. Rehberg EF, Samson-Bouma ME, Kienzle B, Blinderman L, Jamil H, Wetterau JR, Aggerbeck LP, Gordon DA: A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. J Biol Chem. 1996 Nov 22;271(47):29945-52. [PubMed:8939939 ]
  10. Wang J, Hegele RA: Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. Hum Mutat. 2000 Mar;15(3):294-5. [PubMed:10679949 ]
  11. Ohashi K, Ishibashi S, Osuga J, Tozawa R, Harada K, Yahagi N, Shionoiri F, Iizuka Y, Tamura Y, Nagai R, Illingworth DR, Gotoda T, Yamada N: Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. J Lipid Res. 2000 Aug;41(8):1199-204. [PubMed:10946006 ]
  12. Ledmyr H, Karpe F, Lundahl B, McKinnon M, Skoglund-Andersson C, Ehrenborg E: Variants of the microsomal triglyceride transfer protein gene are associated with plasma cholesterol levels and body mass index. J Lipid Res. 2002 Jan;43(1):51-8. [PubMed:11792722 ]
  13. Lancellotti S, Di Leo E, Penacchioni JY, Balli F, Viola L, Bertolini S, Calandra S, Tarugi P: Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B. Biochim Biophys Acta. 2004 Jan 20;1688(1):61-7. [PubMed:14732481 ]