• Gene id: 4547

Gene Summary

• Gene Symbol: MTTP   Gene   UCSC   Ensembl
• Aliases: ABL, MTP
• Gene name: microsomal triglyceride transfer protein
• Alternate names: microsomal triglyceride transfer protein large subunit, microsomal triglyceride transfer protein (large polypeptide, 88kDa),
• Gene location: 4q23 (99564077: 99623996)     Exons: 19     NC_000004.12
• Gene summary(Entrez): MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein
• OMIM: 613142

Protein Summary

• Protein general information: P55157  
  • Name: Microsomal triglyceride transfer protein large subunit
  • Length: 894  
  • Mass: 99351
  • Tissue specificity: Liver and small intestine. Also found in ovary, testis and kidney. {ECO
• Sequence:

  MILLAVLFLCFISSYSASVKGHTTGLSLNNDRLYKLTYSTEVLLDRGKGKLQDSVGYRISSNVDVALLWRNPDGD
  DDQLIQITMKDVNVENVNQQRGEKSIFKGKSPSKIMGKENLEALQRPTLLHLIHGKVKEFYSYQNEAVAIENIKR
  GLASLFQTQLSSGTTNEVDISGNCKVTYQAHQDKVIKIKALDSCKIARSGFTTPNQVLGVSSKATSVTTYKIEDS
  FVIAVLAEETHNFGLNFLQTIKGKIVSKQKLELKTTEAGPRLMSGKQAAAIIKAVDSKYTAIPIVGQVFQSHCKG
  CPSLSELWRSTRKYLQPDNLSKAEAVRNFLAFIQHLRTAKKEEILQILKMENKEVLPQLVDAVTSAQTSDSLEAI
  LDFLDFKSDSSIILQERFLYACGFASHPNEELLRALISKFKGSIGSSDIRETVMIITGTLVRKLCQNEGCKLKAV
  VEAKKLILGGLEKAEKKEDTRMYLLALKNALLPEGIPSLLKYAEAGEGPISHLATTALQRYDLPFITDEVKKTLN
  RIYHQNRKVHEKTVRTAAAAIILNNNPSYMDVKNILLSIGELPQEMNKYMLAIVQDILRFEMPASKIVRRVLKEM
  VAHNYDRFSRSGSSSAYTGYIERSPRSASTYSLDILYSGSGILRRSNLNIFQYIGKAGLHGSQVVIEAQGLEALI
  AATPDEGEENLDSYAGMSAILFDVQLRPVTFFNGYSDLMSKMLSASGDPISVVKGLILLIDHSQELQLQSGLKAN
  IEVQGGLAIDISGAMEFSLWYRESKTRVKNRVTVVITTDITVDSSFVKAGLETSTETEAGLEFISTVQFSQYPFL
  VCMQMDKDEAPFRQFEKKYERLSTGRGYVSQKRKESVLAGCEFPLHQENSEMCKVVFAPQPDSTSSGWF

• Structural information:
  • Protein Domains: (28..65-)
    (/note="Vitellogenin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00557"-)
  • Interpro: IPR015819  IPR001747  IPR011030  IPR039988  IPR015816  
  • Prosite: PS51211
  • STRING: ENSP00000427679
• Other Databases: GeneCards:  MTTP  Malacards:  MTTP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005548	phospholipid transporter activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0016323	basolateral plasma membrane	IBA	cellular component
GO:0042157	lipoprotein metabolic process	IBA	biological process
GO:0042632	cholesterol homeostasis	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0034377	plasma lipoprotein particle assembly	IDA	biological process
GO:0034197	triglyceride transport	IDA	biological process
GO:0034377	plasma lipoprotein particle assembly	IDA	biological process
GO:0034197	triglyceride transport	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0034197	triglyceride transport	IDA	biological process
GO:0015914	phospholipid transport	IDA	biological process
GO:0015914	phospholipid transport	IDA	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0034197	triglyceride transport	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005319	lipid transporter activity	IEA	molecular function
GO:0005548	phospholipid transporter activity	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0006629	lipid metabolic process	TAS	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0034378	chylomicron assembly	TAS	biological process
GO:0034379	very-low-density lipoprotein particle assembly	TAS	biological process
GO:0005319	lipid transporter activity	TAS	molecular function
GO:0005319	lipid transporter activity	TAS	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034197	triglyceride transport	IMP	biological process
GO:0009306	protein secretion	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0120014	phospholipid transfer activity	IDA	molecular function
GO:0120014	phospholipid transfer activity	IDA	molecular function
GO:1902388	ceramide 1-phosphate transfer activity	IDA	molecular function
GO:0140344	triglyceride transfer activity	IDA	molecular function
GO:0140344	triglyceride transfer activity	IDA	molecular function
GO:1902389	ceramide 1-phosphate transport	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04975	Fat digestion and absorption

Diseases

Associated diseases	References
Abetalipoproteinemia	KEGG:H00160
Abetalipoproteinemia	KEGG:H00160
Non-alcoholic fatty liver disease	PMID:15094225
Hypertension	PMID:16328015
Abetalipoproteinemia	PMID:8533758
Abetalipoproteinemia	PMID:10946006
Abetalipoproteinemia	PMID:14741197
Hyperinsulinism	PMID:11849654
Fatty liver disease	PMID:16697730
obesity	PMID:15635487
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R