GenTIGS

Neurotrophic receptor tyrosine kinase 1 (NTRK1) Associated conditions: 1. Hereditary insensitivity to pain with anhidrosis 2. Charcot-Marie-Tooth disease 3. Familial medullary thyroid carcinoma

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_001007792.1	NP_001007793.1	NC_000001.11	(156815749..156881849)	Reference GRCh38.p14 Primary Assembly	P04629
2	REVIEWED	NM_001012331.2	NP_001012331.1	NC_000001.11	(156815749..156881849)	Reference GRCh38.p14 Primary Assembly	P04629
3	REVIEWED	NM_002529.4	NP_002520.2	NC_000001.11	(156815749..156881849)	Reference GRCh38.p14 Primary Assembly	P04629

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 1411 reference articles

Variant Information Neurotrophic receptor tyrosine kinase 1 (NTRK1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Neurotrophic receptor tyrosine kinase 1 (NTRK1)

ClinVar variants:Revealing mutagenic patterns

GO Term of Neurotrophic receptor tyrosine kinase 1 (NTRK1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	TAS	involved_in	positive regulation of protein phosphorylation	Process	19036963
2	Homo sapiens	IDA	enables	protein tyrosine kinase activity	Function	2927393
3	Homo sapiens	IBA	enables	transmembrane receptor protein tyrosine kinase activity	Function	21873635
4	Homo sapiens	IDA	enables	transmembrane receptor protein tyrosine kinase activity	Function	15488758
5	Homo sapiens	IMP	enables	transmembrane receptor protein tyrosine kinase activity	Function	1281417
6	Homo sapiens	IEA	enables	GPI-linked ephrin receptor activity	Function	-
7	Homo sapiens	IBA	enables	neurotrophin receptor activity	Function	21873635
8	Homo sapiens	IEA	enables	neurotrophin p75 receptor binding	Function	-
9	Homo sapiens	IPI	enables	protein binding	Function	8226808 8384556 10490030 12237455 14985763 15488758 17389358 21102451 21364532 21570973 22939624 26446845 27445338 28197073 35384245
10	Homo sapiens	IEA	enables	ATP binding	Function	-
11	Homo sapiens	ISS	located_in	early endosome	Component	-
12	Homo sapiens	ISS	located_in	late endosome	Component	-
13	Homo sapiens	IDA	located_in	plasma membrane	Component	1281417 2927393 15488758
14	Homo sapiens	ISS	located_in	plasma membrane	Component	-
15	Homo sapiens	TAS	located_in	plasma membrane	Component	-
16	Homo sapiens	IDA	involved_in	protein phosphorylation	Process	15488758
17	Homo sapiens	IBA	involved_in	transmembrane receptor protein tyrosine kinase signaling pathway	Process	21873635
18	Homo sapiens	IBA	involved_in	multicellular organism development	Process	21873635
19	Homo sapiens	IEA	involved_in	axon guidance	Process	-
20	Homo sapiens	IEA	involved_in	learning or memory	Process	-
21	Homo sapiens	IEA	involved_in	circadian rhythm	Process	-
22	Homo sapiens	IDA	involved_in	negative regulation of cell population proliferation	Process	15488758
23	Homo sapiens	IEA	involved_in	response to xenobiotic stimulus	Process	-
24	Homo sapiens	IEA	located_in	cell surface	Component	-
25	Homo sapiens	TAS	located_in	endosome membrane	Component	-
26	Homo sapiens	IDA	enables	nerve growth factor receptor activity	Function	15488758
27	Homo sapiens	IMP	enables	nerve growth factor receptor activity	Function	1281417
28	Homo sapiens	ISS	involved_in	programmed cell death involved in cell development	Process	-
29	Homo sapiens	IDA	involved_in	positive regulation of neuron projection development	Process	15488758
30	Homo sapiens	IDA	involved_in	peptidyl-tyrosine phosphorylation	Process	2927393
31	Homo sapiens	IEA	enables	kinase binding	Function	-
32	Homo sapiens	IEA	involved_in	olfactory nerve development	Process	-
33	Homo sapiens	IEA	involved_in	B cell differentiation	Process	-
34	Homo sapiens	IBA	is_active_in	axon	Component	21873635
35	Homo sapiens	IEA	located_in	dendrite	Component	-
36	Homo sapiens	IEA	involved_in	response to nutrient levels	Process	-
37	Homo sapiens	IEA	located_in	early endosome membrane	Component	-
38	Homo sapiens	IEA	located_in	late endosome membrane	Component	-
39	Homo sapiens	ISS	part_of	protein-containing complex	Component	-
40	Homo sapiens	IBA	involved_in	positive regulation of kinase activity	Process	21873635
41	Homo sapiens	IMP	involved_in	peptidyl-tyrosine autophosphorylation	Process	1281417
42	Homo sapiens	IBA	involved_in	nerve growth factor signaling pathway	Process	21873635
43	Homo sapiens	IMP	involved_in	nerve growth factor signaling pathway	Process	1281417
44	Homo sapiens	IEA	involved_in	mechanoreceptor differentiation	Process	-
45	Homo sapiens	IPI	enables	identical protein binding	Function	21187090 28197073
46	Homo sapiens	IDA	enables	protein homodimerization activity	Function	1281417 17196528
47	Homo sapiens	IEA	located_in	neuronal cell body	Component	-
48	Homo sapiens	TAS	involved_in	negative regulation of apoptotic process	Process	22635104
49	Homo sapiens	ISS	involved_in	positive regulation of programmed cell death	Process	-
50	Homo sapiens	IBA	enables	neurotrophin binding	Function	21873635
51	Homo sapiens	IBA	part_of	receptor complex	Component	21873635
52	Homo sapiens	IDA	part_of	receptor complex	Component	23382219
53	Homo sapiens	ISS	involved_in	negative regulation of neuron apoptotic process	Process	-
54	Homo sapiens	IDA	involved_in	positive regulation of GTPase activity	Process	15488758
55	Homo sapiens	IDA	involved_in	positive regulation of Ras protein signal transduction	Process	15488758
56	Homo sapiens	IDA	involved_in	protein autophosphorylation	Process	15488758
57	Homo sapiens	IDA	involved_in	neurotrophin TRK receptor signaling pathway	Process	15488758
58	Homo sapiens	IEA	involved_in	ephrin receptor signaling pathway	Process	-
59	Homo sapiens	IDA	enables	nerve growth factor binding	Function	1281417 15488758 17196528
60	Homo sapiens	ISS	involved_in	sympathetic nervous system development	Process	-
61	Homo sapiens	IEA	involved_in	response to axon injury	Process	-
62	Homo sapiens	IEA	involved_in	detection of temperature stimulus involved in sensory perception of pain	Process	-
63	Homo sapiens	IEA	involved_in	detection of mechanical stimulus involved in sensory perception of pain	Process	-
64	Homo sapiens	IDA	involved_in	positive regulation of NF-kappaB transcription factor activity	Process	15488758
65	Homo sapiens	IEA	involved_in	neuron apoptotic process	Process	-
66	Homo sapiens	IEA	involved_in	response to hydrostatic pressure	Process	-
67	Homo sapiens	IEA	involved_in	response to electrical stimulus	Process	-
68	Homo sapiens	IBA	involved_in	regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Process	21873635
69	Homo sapiens	IBA	involved_in	positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Process	21873635
70	Homo sapiens	IEA	involved_in	positive regulation of synapse assembly	Process	-
71	Homo sapiens	IEA	involved_in	positive regulation of synaptic transmission, glutamatergic	Process	-
72	Homo sapiens	IEA	located_in	recycling endosome membrane	Component	-
73	Homo sapiens	IEA	involved_in	Sertoli cell development	Process	-
74	Homo sapiens	ISS	involved_in	axonogenesis involved in innervation	Process	-
75	Homo sapiens	IEA	involved_in	behavioral response to formalin induced pain	Process	-
76	Homo sapiens	IBA	NOT involved_in	positive regulation of ERK1 and ERK2 cascade	Process	21873635
77	Homo sapiens	IDA	involved_in	positive regulation of ERK1 and ERK2 cascade	Process	15488758
78	Homo sapiens	IEA	involved_in	cellular response to nicotine	Process	-
79	Homo sapiens	IDA	NOT involved_in	cellular response to amyloid-beta	Process	11927634
80	Homo sapiens	IBA	involved_in	cellular response to nerve growth factor stimulus	Process	21873635
81	Homo sapiens	IMP	involved_in	cellular response to nerve growth factor stimulus	Process	1281417
82	Homo sapiens	ISS	involved_in	cellular response to nerve growth factor stimulus	Process	-