MTTP
entrez
4547
canonical
uniprot
P55157
canonical
ensembl
ENSG00000138823
resolver
ensp
ENSP00000265517
resolver
ensp
ENSP00000400821
resolver
ensp
ENSP00000427679
resolver
enst
ENST00000511045
resolver
genesymbol
MTTP
resolver
genesymbol_syn
MTP
resolver
hgnc
HGNC:7467
resolver
uniprot
A8K428
resolver
uniprot
B7Z7X3
resolver
uniprot
E9PBP6
resolver
uniprot
Q08AM4
resolver
uniprot
Q6P5T3
resolver
uniprot_entry
B7Z7X3_HUMAN
resolver
uniprot_entry
E9PBP6_HUMAN
resolver
uniprot_entry
MTP_HUMAN
resolver
uniprot_sec
A8K428
resolver
uniprot_sec
Q08AM4
resolver
uniprot_sec
Q6P5T3
resolver
amino_acid_sequence
MILLAVLFLCFISSYSASVKGHTTGLSLNNDRLYKLTYSTEVLLDRGKGKLQDSVGYRISSNVDVALLWRNPDGDDDQLIQITMKDVNVENVNQQRGEKSIFKGKSPSKIMGKENLEALQRPTLLHLIHGKVKEFYSYQNEAVAIENIKRGLASLFQTQLSSGTTNEVDISGNCKVTYQAHQDKVIKIKALDSCKIARSGFTTPNQVLGVSSKATSVTTYKIEDSFVIAVLAEETHNFGLNFLQTIKGKIVSKQKLELKTTEAGPRLMSGKQAAAIIKAVDSKYTAIPIVGQVFQSHCKGCPSLSELWRSTRKYLQPDNLSKAEAVRNFLAFIQHLRTAKKEEILQILKMENKEVLPQLVDAVTSAQTSDSLEAILDFLDFKSDSSIILQERFLYACGFASHPNEELLRALISKFKGSIGSSDIRETVMIITGTLVRKLCQNEGCKLKAVVEAKKLILGGLEKAEKKEDTRMYLLALKNALLPEGIPSLLKYAEAGEGPISHLATTALQRYDLPFITDEVKKTLNRIYHQNRKVHEKTVRTAAAAIILNNNPSYMDVKNILLSIGELPQEMNKYMLAIVQDILRFEMPASKIVRRVLKEMVAHNYDRFSRSGSSSAYTGYIERSPRSASTYSLDILYSGSGILRRSNLNIFQYIGKAGLHGSQVVIEAQGLEALIAATPDEGEENLDSYAGMSAILFDVQLRPVTFFNGYSDLMSKMLSASGDPISVVKGLILLIDHSQELQLQSGLKANIEVQGGLAIDISGAMEFSLWYRESKTRVKNRVTVVITTDITVDSSFVKAGLETSTETEAGLEFISTVQFSQYPFLVCMQMDKDEAPFRQFEKKYERLSTGRGYVSQKRKESVLAGCEFPLHQENSEMCKVVFAPQPDSTSSGWF
uniprot
proteins
disease_involvement
DISEASE: Abetalipoproteinemia (ABL) [MIM:200100]: An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration. {ECO:0000269|PubMed:10679949, ECO:0000269|PubMed:10946006, ECO:0000269|PubMed:22236406, ECO:0000269|PubMed:23475612, ECO:0000269|PubMed:25108285, ECO:0000269|PubMed:26224785, ECO:0000269|PubMed:8939939}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces (PubMed:15897609, PubMed:16478722, PubMed:22236406, PubMed:23475612, PubMed:25108285, PubMed:26224785, PubMed:8876250, PubMed:8939939). Required for the assembly and secretion of plasma lipoproteins that contain apolipoprotein B (PubMed:16478722, PubMed:23475612, PubMed:26224785, PubMed:8876250, PubMed:8939939). May be involved in regulating cholesteryl ester biosynthesis in cells that produce lipoproteins (By similarity). {ECO:0000250|UniProtKB:O08601, ECO:0000269|PubMed:15897609, ECO:0000269|PubMed:16478722, ECO:0000269|PubMed:22236406, ECO:0000269|PubMed:23475612, ECO:0000269|PubMed:25108285, ECO:0000269|PubMed:26224785, ECO:0000269|PubMed:8876250, ECO:0000269|PubMed:8939939}.
uniprot
proteins
mass_dalton
99351
uniprot
proteins
mutagenesis
MUTAGEN 169; /note="D->E: No loss on localization to the endoplasmic reticulum and does not reduce interaction with APOB or P4HB/PDI, does partially reduce phospholipid or triglyceride transfer activity and apolipoprotein B secretion."; /evidence="ECO:0000269|PubMed:26224785"; MUTAGEN 187; /note="K->L: No loss on localization to the endoplasmic reticulum and does not reduce interaction with APOB, but inhibits interaction with P4HB/PDI, phospholipid or triglyceride transfer activity and apolipoprotein B secretion."; /evidence="ECO:0000269|PubMed:26224785"; MUTAGEN 187; /note="K->R: No loss on localization to the endoplasmic reticulum, does not reduce interaction with APOB or P4HB/PDI, partially inhibits triglyceride transfer activity, does not inhibit phospholipid transfer activity and apolipoprotein B secretion."; /evidence="ECO:0000269|PubMed:26224785"; MUTAGEN 189; /note="K->L: No loss on localization to the endoplasmic reticulum and does not reduce interaction with APOB, but inhibits interaction with P4HB/PDI, phospholipid or triglyceride transfer activity and apolipoprotein B secretion."; /evidence="ECO:0000269|PubMed:26224785"; MUTAGEN 189; /note="K->R: No loss on localization to the endoplasmic reticulum, does not reduce interaction with APOB or P4HB/PDI, partially inhibits triglyceride transfer activity, does not inhibit phospholipid transfer activity and apolipoprotein B secretion."; /evidence="ECO:0000269|PubMed:26224785"; MUTAGEN 435; /note="L->E: No loss on localization to the endoplasmic reticulum. Inhibits triglyceride transfer activity."; /evidence="ECO:0000269|PubMed:22236406"; MUTAGEN 435; /note="L->V: No loss on localization to the endoplasmic reticulum. Does not inhibit triglyceride transfer activity."; /evidence="ECO:0000269|PubMed:22236406"; MUTAGEN 528; /note="Y->F: Does not inhibit triglyceride transfer activity."; /evidence="ECO:0000269|PubMed:25108285"; MUTAGEN 528; /note="Y->K: Inhibits triglyceride transfer activity."; /evidence="ECO:0000269|PubMed:25108285"; MUTAGEN 540; /note="R->A: Strongly reduces triglyceride transfer activity."; /evidence="ECO:0000269|PubMed:25108285"; MUTAGEN 540; /note="R->K: Does not inhibit triglyceride transfer activity and apolipoprotein B secretion."; /evidence="ECO:0000269|PubMed:25108285, ECO:0000269|PubMed:8939939"; MUTAGEN 878; /note="C->S: Inhibits triglyceride transfer activity."; /evidence="ECO:0000269|PubMed:8533758
uniprot
proteins
pubmed
10679949
uniprot
proteins
pubmed
10946006
uniprot
proteins
pubmed
11792722
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14732481
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15897609
uniprot
proteins
pubmed
16478722
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22236406
uniprot
proteins
pubmed
23475612
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25108285
uniprot
proteins
pubmed
26224785
uniprot
proteins
pubmed
27206948
uniprot
proteins
pubmed
7545943
uniprot
proteins
pubmed
7664034
uniprot
proteins
pubmed
7961826
uniprot
proteins
pubmed
8111381
uniprot
proteins
pubmed
8361539
uniprot
proteins
pubmed
8533758
uniprot
proteins
pubmed
8876250
uniprot
proteins
pubmed
8939939
uniprot
proteins
sequence_length
894
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:16478722, ECO:0000269|PubMed:22236406, ECO:0000269|PubMed:23475612, ECO:0000269|PubMed:26224785}. Golgi apparatus {ECO:0000269|PubMed:16478722}. Note=Colocalizes with P4HB/PDI in the endoplasmic reticulum (PubMed:23475612, PubMed:26224785). {ECO:0000269|PubMed:23475612, ECO:0000269|PubMed:26224785}.
uniprot
proteins