Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MTTP Gene

protein-coding GIFtS: 60
GCID: GC04P100485

microsomal triglyceride transfer protein

(Previous names: microsomal triglyceride transfer protein (large polypeptide,...)
(Previous symbol: MTP)

Explore 45 diseases affiliated with
MTTP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Microsomal Triglyceride Transfer Protein¹ ²
MTP¹ ² ³ ⁵
ABL¹ ²
Microsomal Triglyceride Transfer Protein (Large Polypeptide, 88kDa)¹ ²
Microsomal Triglyceride Transfer Protein (Large Polypeptide, 88kD)¹
Microsomal Triglyceride Transfer Protein Large Subunit²

External Ids:	HGNC: 7467¹	Entrez Gene: 4547²	Ensembl: ENSG00000138823⁷	OMIM: 157147⁵	UniProtKB: P55157³

Export aliases for MTTP gene to outside databases

Previous GC identifers: GCMTU990051 GC04P100854 GC04P100715 GC04P096223

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MTTP:

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 assembly. Mutations in MTP can cause abetalipoproteinemia. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MTP_HUMAN, P55157

Function: Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces.

Required for the secretion of plasma lipoproteins that contain apolipoprotein B

Gene Wiki entry for MTTP (Microsomal triglyceride transfer protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MTTP gene promoter:
C/EBPbeta AML1a MyoD POU6F1 (c2) GATA-1 AREB6 RORalpha1 FOXC1 c-Myb LyF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MTTP promoter sequence

Search SABiosciences Chromatin IP Primers for MTTP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTTP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q24 Ensembl cytogenetic band: 4q23 HGNC cytogenetic band: 4q24

MTTP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTTP gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P100485: view genomic region (about GC identifiers)

Start:	100,484,918 bp from pter	End:	100,545,156 bp from pter
Size:	60,239 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MTP_HUMAN, P55157 (See protein sequence)

Recommended Name: Microsomal triglyceride transfer protein large subunit precursor

Size: 894 amino acids; 99351 Da

Subunit: Heterodimer composed of MTTP and of protein disulfide isomerase (P4HB/PDI) (By similarity)

Subcellular location: Endoplasmic reticulum

Secondary accessions: A8K428 Q08AM4

Explore the universe of human proteins at neXtProt for MTTP: NX_P55157

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P55157

MTTP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000244.2

ENSEMBL proteins:

ENSP00000424972 ENSP00000425987 ENSP00000426755 ENSP00000425642 ENSP00000422667

ENSP00000422178 ENSP00000422782 ENSP00000427679 ENSP00000265517 ENSP00000407350

ENSP00000400821

Reactome Protein details: P55157
Human Recombinant Protein Products for MTTP:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: MTTP OriGene Custom Protein Services for MTTP
	GenScript Custom Purified and Recombinant Proteins Services for MTTP
	Novus Biologicals MTTP Proteins Novus Biologicals MTTP Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MTTP

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	--	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005791	rough endoplasmic reticulum	IEA	--
GO:0005794	Golgi apparatus	IEA	--
GO:0016323	basolateral plasma membrane	IEA	--

MTTP for ontologies About GeneDecksing

MTTP Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for MTTP
	GenScript Custom Superior Antibodies Services for MTTP
	Novus Biologicals MTTP Antibodies
	Abcam antibodies for MTTP
	Uscn Antibodies for MTTP
	ThermoFisher Antibodies for MTTP

Assay Products for MTTP:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MTTP
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MTTP

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MTTP for domains About GeneDecksing

4 InterPro domains/families:

IPR011030 Vitellinogen_superhlx

IPR001747 Lipid_transpt_N

IPR015819 Lipid_transp_b-sht_shell

IPR015816 Vitellinogen_b-sht_N

Graphical View of Domain Structure for InterPro Entry P55157

ProtoNet protein and cluster: P55157

1 Blocks protein family: IPB001747 Lipid transport protein

UniProtKB/Swiss-Prot: MTP_HUMAN, P55157

Similarity: Contains 1 vitellogenin domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MTP_HUMAN, P55157

Function: Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces.

Required for the secretion of plasma lipoproteins that contain apolipoprotein B

Induction: Positively regulated by cholesterol and negatively regulated by insulin

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005319	lipid transporter activity	TAS	--
GO:0005488	binding	--	--
GO:0005515	protein binding	--	--
GO:0008289	lipid binding	IEA	--
GO:0034185	apolipoprotein binding	IEA	--

MTTP for ontologies About GeneDecksing

Phenotypes:
9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Mttp):

cardiovascular system	cellular	embryogenesis	growth/size	hematopoietic system
homeostasis/metabolism	liver/biliary system	mortality/aging	nervous system

MTTP for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MTTP

miRNA Products:		OriGene 3'-UTR Clone: MTTP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTTP
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate MTTP (see all 16):
		hsa-miR-411* hsa-miR-30c hsa-miR-379* hsa-miR-520d-5p hsa-miR-485-3p hsa-miR-30d hsa-miR-30a hsa-miR-4330

		SwitchGear 3'UTR luciferase reporter plasmid: MTTP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTTP (see all 7) OriGene shRNA RFP: MTTP OriGene siRNA: MTTP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTTP
		Sirion Biotech Custom design and validation of potent shRNA sequences against MTTP

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for MTTP
			Sirion Biotech Customized adenovirus for overexpression of MTTP Sirion Biotech Customized adenovirus for potent knockdown of MTTP

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTTP (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTTP OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MTTP (NM_000253)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTTP
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTTP

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MTTP
		Search LifeMap BioReagents cell lines for MTTP
		Sirion Biotech Customized stable knockdown cell line services for MTTP Sirion Biotech Customized inducible knockdown cell line services for MTTP Sirion Biotech Customized stable overexpressing cell line services for MTTP Sirion Biotech Customized inducible overexpressing cell line services for MTTP

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTTP

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lipoprotein metabolism

	Lipoprotein metabolism	1.00			Lipid digestion, mobilization, and transport	0.56
	Chylomicron-mediated lipid transport	0.57

Statin Pathway, Pharmacodynamics

Statin Pathway, Pharmacodynamics

1.00

Statin Pathway

0.80

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

alpha-Linolenic acid metabolism

Fat digestion and absorption

0.32

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for MTTP

Statin Pathway

5 Reactome Pathways for MTTP

	Lipid digestion, mobilization, and transport
	Metabolism
	Lipoprotein metabolism
	Chylomicron-mediated lipid transport
	Metabolism of lipids and lipoproteins

1 PharmGKB Pathway for MTTP

Statin Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for MTTP):

Fat digestion and absorption

MTTP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MTTP

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/10 Interacting proteins for MTTP (P55157³ ENSP00000265517⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APOB	P04114³, ENSP00000233242⁴	I2D: score=2 STRING: ENSP00000233242
HSP90B1	P14625³, ENSP00000299767⁴	I2D: score=1 STRING: ENSP00000299767
P4HB	P07237³, ENSP00000327801⁴	I2D: score=1 STRING: ENSP00000327801
ACTN4	O43707³	I2D: score=1
SLC6A19	Q695T7³	I2D: score=1

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006497	protein lipidation	IEA	--
GO:0006629	lipid metabolic process	TAS	--
GO:0006641	triglyceride metabolic process	IEA	--
GO:0006869	lipid transport	--	--
GO:0042157	lipoprotein metabolic process	TAS	--

MTTP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MTTP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MTTP

10/290 HMDB Compounds for MTTP (see all 290) About this table

Compound	Synonyms	CAS #	PubMed Ids
TG(15:0/16:0/20:2(11Z,14Z))[iso6]	Tracylglycerol(15:0/16:0/20:2) (see all 15)	--	12486725
TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]	TAG(15:0/16:0/20:3n6) (see all 16)	--	12486725
TG(15:0/16:0/20:4(5Z,8Z,11Z,14Z))[iso6]	TAG(15:0/16:0/20:4n6) (see all 15)	--	12486725
TG(15:0/18:0/18:2(9Z,12Z))[iso6]	TG(15:0/18:0/18:2w6) (see all 15)	--	12486725
TG(15:0/18:0/18:3(9Z,12Z,15Z))[iso6]	TAG(51:3) (see all 16)	--	12486725
TG(15:0/18:1(9Z)/16:0)[iso6]	Tracylglycerol(15:0/18:1w9/16:0) (see all 15)	--	12486725
TG(15:0/18:1(9Z)/16:1(9Z))[iso6]	TG(15:0/18:1/16:1) (see all 15)	--	12486725
TG(15:0/18:1(9Z)/18:1(9Z))[iso3]	TG(15:0/18:1n9/18:1n9) (see all 15)	--	12486725
TG(15:0/18:1(9Z)/18:2(9Z,12Z))[iso6]	Tracylglycerol(15:0/18:1/18:2) (see all 15)	--	12486725
TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]	Tracylglycerol(15:0/18:1/18:3) (see all 16)	--	12486725

1 DrugBank Compound for MTTP About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Hesperetin	Cyanidanon 4'-Methyl Ether 1626 (see all 3)	520-33-2	target	antagonist	11352979

10/47 Novoseek chemical compound relationships for MTTP gene (see all 47) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mttp	93.6	73	17854051 (8), 16617174 (6), 16518588 (6), 18697801 (5) (see all 13)
hmtp	83.4	13	15547294 (2), 16226723 (2)
n-acetylleucylleucylnorleucinal	82.8	2	10092635 (1), 8626595 (1)
lipovitellin	81.9	10	11264986 (3), 10893406 (1), 17002280 (1), 12700048 (1) (see all 6)
lipid	72.8	221	7803401 (10), 10893406 (7), 11358959 (5), 10769147 (5) (see all 91)
oleic acid	70.2	34	9139669 (5), 15723548 (4), 11254482 (2), 9651381 (2) (see all 14)
sterol	68.7	29	10455139 (4), 16183064 (2), 19054139 (1), 9831631 (1) (see all 13)
cholesterol	68.7	67	18502767 (3), 20405839 (3), 10894817 (2), 11792722 (2) (see all 41)
triacylglycerol	67.8	39	9139669 (6), 8621500 (2), 10216282 (2), 9875061 (2) (see all 17)
ezetimibe	64	4	18506154 (2), 12396226 (1)

Search CenterWatch for drugs/clinical trials and news about MTTP / MTP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MTTP gene:

NM_000253.2

Unigene Cluster for MTTP:

Microsomal triglyceride transfer protein

Hs.195799 [show with all ESTs]

Unigene Representative Sequence: NM_000253

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000513404 ENST00000505142 ENST00000506883 ENST00000515141 ENST00000504724

ENST00000511610 ENST00000505094 ENST00000511045 ENST00000265517 ENST00000422897(uc003hvb.3)

ENST00000457717(uc003hvc.4 uc011cej.2)

miRNA Products:		OriGene 3'-UTR Clone: MTTP Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MTTP
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate MTTP (see all 16):
		hsa-miR-411* hsa-miR-30c hsa-miR-379* hsa-miR-520d-5p hsa-miR-485-3p hsa-miR-30d hsa-miR-30a hsa-miR-4330

		SwitchGear 3'UTR luciferase reporter plasmid: MTTP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTTP (see all 7) OriGene shRNA RFP: MTTP OriGene siRNA: MTTP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTTP
		Sirion Biotech Custom design and validation of potent shRNA sequences against MTTP

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTTP (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTTP OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MTTP (NM_000253)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MTTP
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTTP

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTTP Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MTTP
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTTP
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTTP

Additional cDNA sequence:

AK225328.1 AK290793.1 AK302602.1 BC062696.1 BC125110.1 BC125111.1 X59657.1 X75500.1

X91148.1

4 DOTS entries:

DT.213909 DT.40277941 DT.121240002 DT.121239989

24/54 AceView cDNA sequences (see all 54):

AI623321 BX483526 BE047932 X59657 AA421238 AA693786 CR596497 X75500

AI431738 AA609331 N41015 CB162574 BX494161 NM_000253 W01491 BP383315

BC062696 AW300556 AA421278 BF511063 AA676269 X91148 BX494699 BX410109

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MTTP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

MTTP expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

DKK1-induced cells (Derivation of cardio...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MTTP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MTTP

SOURCE GeneReport for Unigene cluster: Hs.195799

UniProtKB/Swiss-Prot: MTP_HUMAN, P55157

Tissue specificity: Liver and small intestine. Also found in ovary, testis and kidney

SABiosciences Expression via Pathway-Focused PCR Array including MTTP:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTTP Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MTTP
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTTP
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTTP

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTTP

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MTTP gene from 5/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mttp^{1 , 5}	microsomal triglyceride transfer protein^{1, 5}	84.55(n)¹ 86(a)¹		3 (64.06 cM)⁵ 17777¹ NM_008642.2¹ NP_032668.2¹ 138089855⁵
chicken (Gallus gallus)	Aves	MTTP¹	microsomal triglyceride transfer protein	69.5(n) 66.97(a)		422709 NM_001109784.1 NP_001103254.1
lizard (Anolis carolinensis)	Reptilia	MTTP⁶	--	65(a)	1 ↔ 1	GL343323.1(1155211-1189350)
zebrafish (Danio rerio)	Actinopterygii	Dr.19753²	Danio rerio mRNA for putative microsomal triglyceride more	75.33(n)		AJ428850.1
fruit fly (Drosophila melanogaster)	Insecta	Mtp¹	Microsomal triacylglycerol transfer protein	40.48(n) 27.14(a)		35362 NM_136231.3 NP_610075.2

ENSEMBL Gene Tree for MTTP (if available)
TreeFam Gene Tree for MTTP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199422220^1,2	C	pathogenic	96268312(+)	`TGTGCA/GCACTG`	2	H R	mis¹		0	--	--	--	--
rs199422222^1,2	C	pathogenic	96268462(+)	`TGCAAG/TGTATA`	2	S I	mis¹		0	--	--	--	--
rs199422219^1,2	C	pathogenic	96270641(+)	`TCCGTC/TGAGTT`	2	R *	stg¹		0	--	--	--	--
rs199422221^1,2	C	pathogenic	96278582(+)	`TGAAAA/TATAGG`	2	N Y	mis¹		0	--	--	--	--
rs146064714^1,2	C	pathogenic	96282244(+)	`TAGCAG/TGATGT`	2	G *	stg¹		1		NA	4550
rs13126191^1,2	A	--	96221810(+)	`aacctC/Ttgcct`	1	--	us2k¹		0	--	--	--	--
rs10023630^1,2	C	--	96221833(+)	`cgattC/Gtcctg`	1	--	us2k¹		2		NA	4
rs113609243^1,2		--	96222252(+)	`CTGACC/TTCAGG`	1	--	us2k¹		1		CSA	2
rs75824237^1,2	F	--	96222844(+)	`CTATCC/TCTTCT`	1	--	us2k¹		1		NA	120
rs35992230^1,2	C,F	--	96222857(+)	`GCTCCC/TAGCCA`	1	--	us2k¹		5		NA WA	244

HapMap Linkage Disequilibrium report for MTTP (100484918 - 100545156 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MTTP
2 Indels: 98816 12503
Human Gene Mutation Database (HGMD): MTTP

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTTP

DNA2.0 Custom Variant and Variant Library Synthesis for MTTP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MTTP for disorders           About GeneDecksing

OMIM gene information: 157147
OMIM disorders: 200100  605552
UniProtKB/Swiss-Prot: MTP_HUMAN, P55157

Defects in MTTP are the cause of abetalipoproteinemia (ABL) [MIM:200100]. ABL is 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

20/45 diseases for MTTP (see all 45): About MalaCards

3-hydroxyacyl-coa dehydrogenase deficiency abetalipoproteinemia metabolic syndrome, protection against acyl-coa dehydrogenase

familial combined hyperlipidemia nonalcoholic steatohepatitis type 2 diabetes mellitus coronary heart disease

steatorrhea hypobetalipoproteinemia anderson disease insulin resistance

hypercholesterolemia sitosterolemia ischemic heart disease hepatitis c

fatty liver disease hyperlipidemia diabetes mellitus familial hypercholesterolemia

3 diseases from the University of Copenhagen DISEASES database for MTTP:

Abetalipoproteinemia Fatty liver disease Hypobetalipoproteinemia

10/28 Novoseek disease relationships for MTTP gene (see all 28) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
abetalipoproteinemia	95.6	63	10446076 (2), 8044420 (2), 15910857 (2), 1439810 (2) (see all 36)
hypobetalipoproteinemia	74.1	2	15910857 (1), 14732481 (1)
fatty liver	69.1	13	19262398 (2), 20178560 (2), 19018985 (1), 20139103 (1) (see all 9)
malabsorption	55.8	3	9686820 (1), 19056372 (1), 19066957 (1)
dyslipidemia	54	8	12775233 (3), 17700364 (1), 12716735 (1), 16721486 (1)
vitamin deficiency	52.1	1	19066957 (1)
hypertriglyceridemia	48.3	2	9717061 (1), 16651714 (1)
steatorrhea	48.2	1	9686820 (1)
insulin resistance	47.9	9	15723548 (2), 18497882 (1), 12048212 (1), 17547292 (1)
coronary heart disease	45.4	4	16328015 (1), 9831631 (1), 16617174 (1)

Genetic Association Database (GAD): MTTP
Human Genome Epidemiology (HuGE) Navigator: MTTP (59 documents)

Export disorders for MTTP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MTTP gene, integrated from 9 sources (see all 361):
(articles sorted by number of sources associating them with MTTP)

Utopia: connect your pdf to the dynamic
world of online information

Variants of the microsomal triglyceride transfer protein gene are associated with plasma cholesterol levels and body mass index. (PubMed id 11792722)^{1, 2, 4, 9} Ledmyr H....Ehrenborg E. (2002)
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. (PubMed id 8111381)^{1, 2, 3, 9} Shoulders C.C.... Scott J. (1993)
Association of a microsomal triglyceride transfer protein gene polymorphism with blood pressure in Japanese women. (PubMed id 16328015)^{1, 4, 9} Yamada Y....Shimokata H. (2006)
No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans. (PubMed id 15911777)^{1, 4, 9} Nebel A....Schreiber S. (2005)
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. (PubMed id 10679949)^{1, 2, 9} Wang J. and Hegele R.A. (2000)
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. (PubMed id 8533758)^{1, 2, 9} Narcisi T.M.E.... Scott J. (1995)
Human microsomal triglyceride transfer protein large subunit gene structure. (PubMed id 7545943)^{1, 2, 9} Sharp D.... Wetterau J.R. (1994)
Molecular screening of the microsomal triglyceride transfer protein: association between polymorphisms and both abdominal obesity and plasma apolipoprotein B concentration. (PubMed id 15635487)^{1, 4, 9} Berthier M.T....Vohl M.C. (2004)
Polymorphisms of microsomal triglyceride transfer protein gene and manganese superoxide dismutase gene in non-alcoholic steatohepatitis. (PubMed id 15094225)^{1, 4, 9} Namikawa C....Onishi S. (2004)
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. (PubMed id 10946006)^{1, 2, 9} Ohashi K.... Yamada N. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4547	HGNC: 7467	AceView: MTP	Ensembl:ENSG00000138823	euGenes: HUgn4547
ECgene: MTTP	Kegg: 4547	H-InvDB: MTTP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MTTP	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MTTP	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MTTP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MTTP gene:
Search GeneIP for patents involving MTTP

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for MTTP
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTTP		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTTP
	OriGene Protein Over-expression Lysate for MTTP		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for MTTP		OriGene 3'-UTR Clone for MTTP
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTTP		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTTP
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for MTTP		OriGene Custom Protein Services for MTTP
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MTTP
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTTP
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTTP
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTTP
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTTP
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTTP

	GenScript Custom Purified and Recombinant Proteins Services for MTTP		GenScript cDNA clones with any tag delivered in your preferred vector for MTTP
	GenScript Custom Assay Services for MTTP		GenScript Custom Superior Antibodies Services for MTTP
	GenScript Custom overexpressing Cell Line Services for MTTP		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in MTTP promoter
	Search Chromatin IP Primers for MTTP
	RT² qPCR Primer Assay in human, mouse, rat MTTP
	GNC Network for MTTP
	SABiosciences PCR Arrays including human, mouse, rat MTTP

Search Tocris compounds for MTTP

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	MTTP antibodies
	MTTP proteins
	MTTP lysates

	Antibodies for MTTP
	See all of Abcam's Antibodies, Kits and Proteins for MTTP
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

MTTP Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for MTTP

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTTP

	SwitchGear 3'UTR luciferase reporter plasmids for MTTP
	SwitchGear Promoter luciferase reporter plasmids for MTTP

ThermoFisher Antibodies for MTTP

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTTP

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MTTP

Sirion Biotech Customized:

	stable knockdown cell line services for MTTP
	inducible knockdown cell line services for MTTP
	design and validation of potent shRNA sequences against MTTP
	adenovirus for potent knockdown of MTTP
	adenovirus for overexpression of MTTP
	stable overexpressing cell line services for MTTP
	inducible overexpressing cell line services for MTTP

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes MTTP gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

MTTP Gene

microsomal triglyceride transfer protein

Aliases
for MTTP gene

Summaries
for MTTP gene

Genomic Views
for MTTP gene

Proteins
for MTTP gene

Protein Domains /
Families
for MTTP gene

Function
for MTTP gene

Pathways & Interactions
for MTTP gene

Drugs & Compounds
for MTTP gene

Transcripts
for MTTP gene

Expression
for MTTP gene

Orthologs
for MTTP gene

Paralogs
for MTTP gene

Genomic Variants
for MTTP gene

Disorders / Diseases
for MTTP gene

Publications
for MTTP gene

External Searches for MTTP gene

Genome Databases showing MTTP gene

Other Databases showing MTTP gene

Specialized Databases showing MTTP gene

Intellectual Property
for MTTP gene

Products
for MTTP gene

View Random Gene

Fatty Liver
Steatorrhea
Lipid Disorders
Dyslipidemia
Hypobetalipoproteinemia
Vitamin Deficiency
Insulin Resistance
Genetic Susceptibility
Hyperinsulinemia
Malabsorption
Abetalipoproteinemia
Hypertriglyceridemia
Inflammation
OBESITY
Hyperlipidemia
retinopathy
Hepatitis C Chronic
HYPOCHOLESTEROLEMIA
Retinitis Pigmentosa
Atherosclerosis
Liver diseases
Cardiovascular Diseases
Hypercholesterolemia
NIDDM
genetic disorder
Hypercholesterolemia Familial
Coronary Heart Disease
Hepatitis C

Advanced Search

Export list of displayed genes

MTTP Gene

microsomal triglyceride transfer protein

Aliasesfor MTTP gene

Summariesfor MTTP gene

Genomic Viewsfor MTTP gene

Proteinsfor MTTP gene

Protein Domains /Familiesfor MTTP gene

Functionfor MTTP gene

Pathways & Interactionsfor MTTP gene

Drugs & Compoundsfor MTTP gene

Transcriptsfor MTTP gene

Expression for MTTP gene

Orthologsfor MTTP gene

Paralogsfor MTTP gene

Genomic Variantsfor MTTP gene

Disorders / Diseasesfor MTTP gene

Publicationsfor MTTP gene

External Searches for MTTP gene

Genome Databases showing MTTP gene

Other Databases showing MTTP gene

Specialized Databases showing MTTP gene

Intellectual Propertyfor MTTP gene

Productsfor MTTP gene

View Random Gene

Aliases
for MTTP gene

Summaries
for MTTP gene

Genomic Views
for MTTP gene

Proteins
for MTTP gene

Protein Domains /
Families
for MTTP gene

Function
for MTTP gene

Pathways & Interactions
for MTTP gene

Drugs & Compounds
for MTTP gene

Transcripts
for MTTP gene

Expression
for MTTP gene

Orthologs
for MTTP gene

Paralogs
for MTTP gene

Genomic Variants
for MTTP gene

Disorders / Diseases
for MTTP gene

Publications
for MTTP gene

Intellectual Property
for MTTP gene

Products
for MTTP gene