GenTIGS

Microsomal triglyceride transfer protein (MTTP) Associated conditions: 1. Abetalipoproteinaemia

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000253.4	NP_000244.2	NC_000004.12	(99564129..99623996)	Reference GRCh38.p14 Primary Assembly	P55157
2	REVIEWED	NM_001300785.2	NP_001287714.2	NC_000004.12	(99564129..99623996)	Reference GRCh38.p14 Primary Assembly	P55157
3	REVIEWED	NM_001386140.1	NP_001373069.1	NC_000004.12	(99564129..99623996)	Reference GRCh38.p14 Primary Assembly	P55157

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1182 reference articles

Variant Information Microsomal triglyceride transfer protein (MTTP) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Microsomal triglyceride transfer protein (MTTP)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	lipid transporter activity	Function	-
2	Homo sapiens	TAS	enables	lipid transporter activity	Function	-
3	Homo sapiens	IPI	enables	protein binding	Function	10946006 16478722 23475612 25108285 26224785 27487388
4	Homo sapiens	IBA	enables	phospholipid transporter activity	Function	-
5	Homo sapiens	IEA	enables	phospholipid transporter activity	Function	-
6	Homo sapiens	IBA	is_active_in	endoplasmic reticulum	Component	-
7	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	16478722 22236406 23475612 26224785
8	Homo sapiens	IEA	located_in	endoplasmic reticulum	Component	-
9	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
10	Homo sapiens	IBA	is_active_in	Golgi apparatus	Component	-
11	Homo sapiens	IDA	located_in	Golgi apparatus	Component	16478722
12	Homo sapiens	IEA	located_in	Golgi apparatus	Component	-
13	Homo sapiens	TAS	involved_in	lipid metabolic process	Process	1439810
14	Homo sapiens	IEA	involved_in	lipid transport	Process	-
15	Homo sapiens	IEA	involved_in	circadian rhythm	Process	-
16	Homo sapiens	IEA	enables	lipid binding	Function	-
17	Homo sapiens	IDA	involved_in	protein secretion	Process	16478722
18	Homo sapiens	IMP	involved_in	protein secretion	Process	8876250 23749231
19	Homo sapiens	IDA	involved_in	phospholipid transport	Process	23475612 26224785
20	Homo sapiens	IEA	involved_in	sterol transport	Process	-
21	Homo sapiens	IBA	is_active_in	basolateral plasma membrane	Component	-
22	Homo sapiens	IEA	located_in	basolateral plasma membrane	Component	-
23	Homo sapiens	IEA	located_in	brush border membrane	Component	-
24	Homo sapiens	IEA	located_in	microvillus membrane	Component	-
25	Homo sapiens	IEA	located_in	vesicle	Component	-
26	Homo sapiens	IEA	enables	apolipoprotein binding	Function	-
27	Homo sapiens	IDA	involved_in	triglyceride transport	Process	22236406 23475612 25108285 26224785
28	Homo sapiens	IMP	involved_in	triglyceride transport	Process	23749231
29	Homo sapiens	IDA	involved_in	plasma lipoprotein particle assembly	Process	16478722 23475612 26224785
30	Homo sapiens	IMP	involved_in	plasma lipoprotein particle assembly	Process	8876250
31	Homo sapiens	TAS	involved_in	chylomicron assembly	Process	-
32	Homo sapiens	TAS	involved_in	very-low-density lipoprotein particle assembly	Process	-
33	Homo sapiens	IBA	involved_in	lipoprotein metabolic process	Process	-
34	Homo sapiens	IEA	involved_in	lipoprotein metabolic process	Process	-
35	Homo sapiens	IBA	involved_in	cholesterol homeostasis	Process	-
36	Homo sapiens	IEA	involved_in	cholesterol homeostasis	Process	-
37	Homo sapiens	IDA	part_of	receptor complex	Component	23382219
38	Homo sapiens	IEA	enables	protein-containing complex binding	Function	-
39	Homo sapiens	IDA	enables	protein heterodimerization activity	Function	23475612
40	Homo sapiens	IEA	involved_in	response to calcium ion	Process	-
41	Homo sapiens	IEA	involved_in	intermembrane lipid transfer	Process	-
42	Homo sapiens	IDA	enables	phospholipid transfer activity	Function	23475612 26224785
43	Homo sapiens	IEA	enables	phospholipid transfer activity	Function	-
44	Homo sapiens	IDA	enables	phosphatidylcholine transfer activity	Function	16478722
45	Homo sapiens	IEA	enables	phosphatidylcholine transfer activity	Function	-
46	Homo sapiens	IMP	enables	phosphatidylcholine transfer activity	Function	8876250
47	Homo sapiens	IDA	enables	cholesterol transfer activity	Function	15897609 16478722
48	Homo sapiens	IEA	enables	cholesterol transfer activity	Function	-
49	Homo sapiens	IMP	enables	cholesterol transfer activity	Function	8876250
50	Homo sapiens	IDA	enables	triglyceride transfer activity	Function	15897609 16478722 22236406 25108285
51	Homo sapiens	IEA	enables	triglyceride transfer activity	Function	-
52	Homo sapiens	IMP	enables	triglyceride transfer activity	Function	8876250
53	Homo sapiens	IDA	enables	ceramide 1-phosphate transfer activity	Function	23475612
54	Homo sapiens	IEA	involved_in	ceramide 1-phosphate transport	Process	-
55	Homo sapiens	IDA	enables	phosphatidylethanolamine transfer activity	Function	15897609 16478722
56	Homo sapiens	IEA	enables	phosphatidylethanolamine transfer activity	Function	-