NTRK3 neurotrophic tyrosine kinase, receptor, type 3 [Homo sapiens] - Gene

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Summary

Official Symbol: NTRK3provided by HGNC
Official Full Name: neurotrophic tyrosine kinase, receptor, type 3provided by HGNC
Primary source: HGNC:8033
See related: Ensembl:ENSG00000140538; HPRD:01870; MIM:191316; Vega:OTTHUMG00000148677
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRKC; gp145(trkC)
Summary: This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

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Genomic context

Location :: 15q25

Sequence :: Chromosome: 15; NC_000015.9 (88419988..88799661, complement)

See NTRK3 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

SOX2 utilizes a specific binding motif to directly interact with the TRKC regulatory region.
Title: Transcriptional regulation of TRKC by SOX2 in human embryonic stem cells.
Data indicate that the CYLD mutant tumours showed dysregulated tropomyosin kinase (TRK) signalling, with overexpression of TRKB and TRKC in tumours.
Title: Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours.
TrkC is implicated as a functional PDNF receptor in cell entry, independently of sialic acid recognition, mediating broad T. cruzi infection both in vitro and in vivo.
Title: Neurotrophin receptor TrkC is an entry receptor for Trypanosoma cruzi in neural, glial, and epithelial cells.
Low TRKC is associated with low vincristine and lomustine response in medulloblastoma.
Title: Response of medulloblastoma cells to vincristine and lomustine: role of TRKC, CTNNB1 and STK15.
Mesenchymal stem cells modified by adenovirus carrying the TrkC gene are further promoted to differentiate into neuron-like cells with the potency of forming synapses by overexpressing the NT-3 gene in Schwann cells.
Title: NT-3 gene modified Schwann cells promote TrkC gene modified mesenchymal stem cells to differentiate into neuron-like cells in vitro.
We have characterized a novel ETV6-NTRK3 fusion transcript which has not been previously described in AML FAB M0 by FISH and RACE PCR.
Title: Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia.
NT3 and its receptor may be involved in early folliculogenesis, particularly in the activation of primordial follicles.
Title: Expression of neurotrophin 3 and its tropomyosin-related kinase receptor C in human preantral follicles.
Studies indicate that insulin, IGF-1, TrkA, and TrkC receptors as trophic and as dependence receptors.
Title: Dependence receptors: the trophic theory revisited.
These results suggest that TrkA, TrkB, TrkC may contribute to growth and metastasis of liver cancer.
Title: DNA methylation-dependent regulation of TrkA, TrkB, and TrkC genes in human hepatocellular carcinoma.
This study demonistrated that Intron 12 in NTRK3 is associated with bipolar disorder.
Title: Intron 12 in NTRK3 is associated with bipolar disorder.

Submit: New GeneRIF Correction See all (48)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q16288	Q9P104	DOK5	HPRD	PubMed
Q16288	P63167	DYNLL1	HPRD	PubMed
Q16288	P28223	HTR2A	HPRD	PubMed
Q16288	P51617	IRAK1	HPRD	PubMed
Q16288	P05412	JUN	HPRD	PubMed
Q16288	KIDINS220	KIDINS220	HPRD	PubMed
Q16288	P28482	MAPK1	HPRD	PubMed
Q16288	P27361	MAPK3	HPRD	PubMed
Q16288	P08138	NGFR	HPRD	PubMed
Q16288	Q00994	NGFRAP1	HPRD	PubMed
Q16288	P20783	NTF3	HPRD	PubMed
Q16288	P19174	PLCG1	HPRD	PubMed
Q16288	P18031	PTPN1	HPRD	PubMed
Q16288	Q13972	RASGRF1	HPRD	PubMed
Q16288	P29353	SHC1	HPRD	PubMed
Q16288	SHC (Src homology 2 domain containing) transforming protein 2	SHC2	HPRD	PubMed
Q16288	Q13501	SQSTM1	HPRD	PubMed
BioGRID:110971	BioGRID:116031	FRS2	BioGRID	PubMed	Reconstituted Complex
BioGRID:110971	BioGRID:110963	NTF3	BioGRID	PubMed	Reconstituted Complex
BioGRID:110971	BioGRID:111351	PLCG1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110971	BioGRID:111736	PTPN1	BioGRID	PubMed	Protein-peptide
BioGRID:110971	BioGRID:112361	SHC1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110971	BioGRID:114397	SQSTM1	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
neurotrophin binding	TAS Traceable Author Statement more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell differentiation	IEA Inferred from Electronic Annotation more info
cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
cochlea development	IEA Inferred from Electronic Annotation more info
mechanoreceptor differentiation	IEA Inferred from Electronic Annotation more info
modulation by virus of host transcription	IEA Inferred from Electronic Annotation more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
negative regulation of astrocyte differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of cell death	IEA Inferred from Electronic Annotation more info
nervous system development	IEA Inferred from Electronic Annotation more info
neuron fate specification	IEA Inferred from Electronic Annotation more info
neuron migration	IEA Inferred from Electronic Annotation more info
positive regulation of axon extension involved in regeneration	IEA Inferred from Electronic Annotation more info
protein autophosphorylation	IEA Inferred from Electronic Annotation more info
response to axon injury	IEA Inferred from Electronic Annotation more info
response to corticosterone stimulus	IEA Inferred from Electronic Annotation more info
response to ethanol	IEA Inferred from Electronic Annotation more info
response to stress	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein tyrosine kinase signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi membrane	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: NT-3 growth factor receptor

Names: NT-3 growth factor receptor; GP145-TrkC; ETV6-NTRK3 fusion; tyrosine kinase receptor C; ETS related protein-neurotrophic receptor tyrosine kinase fusion protein

NP_001007157.1

EC 2.7.10.1

NP_001012338.1

EC 2.7.10.1

NP_002521.2

EC 2.7.10.1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029619.1 RefSeqGene

Range

5001..384975

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001007156.2 → NP_001007157.1 NT-3 growth factor receptor isoform c precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform c) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AC021677, BC013693, BM675026, DA789502

Consensus CDS

CCDS32323.1

UniProtKB/TrEMBL

Q96CY4

Related

ENSP00000318328, ENST00000317501

Conserved Domains (5) summary

cd04971
Location:319 – 396
Blast Score: 329

Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC

cd04972
Location:211 – 301
Blast Score: 271

Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC

pfam07679
Location:210 – 301
Blast Score: 130

I-set; Immunoglobulin I-set domain

smart00082
Location:160 – 205
Blast Score: 132

LRRCT; Leucine rich repeat C-terminal domain

pfam13855
Location:104 – 160
Blast Score: 141

LRR_8; Leucine rich repeat
NM_001012338.2 → NP_001012338.1 NT-3 growth factor receptor isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC009711, AC011966, DA789502, S76475

Consensus CDS

CCDS32322.1

UniProtKB/Swiss-Prot

Q16288

Related

ENSP00000354207, ENST00000360948

Conserved Domains (7) summary

cd04971
Location:319 – 396
Blast Score: 341

Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC

cd04972
Location:211 – 301
Blast Score: 281

Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC

cd05094
Location:532 – 836
Blast Score: 1614

PTKc_TrkC; Catalytic domain of the Protein Tyrosine Kinase, Tropomyosin Related Kinase C

pfam07679
Location:210 – 301
Blast Score: 131

I-set; Immunoglobulin I-set domain

smart00082
Location:160 – 205
Blast Score: 132

LRRCT; Leucine rich repeat C-terminal domain

pfam07714
Location:538 – 824
Blast Score: 1000

Pkinase_Tyr; Protein tyrosine kinase

pfam13855
Location:104 – 160
Blast Score: 146

LRR_8; Leucine rich repeat
NM_001243101.1 → NP_001230030.1 NT-3 growth factor receptor isoform d precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (d) has the same N- and C-termini but lacks two alternate internal segments compared to isoform a.

Source sequence(s)

AC011966, AK313646, DA789502

UniProtKB/TrEMBL

H0YND1

Conserved Domains (7) summary

cd04971
Location:319 – 396
Blast Score: 342

Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC

cd04972
Location:211 – 301
Blast Score: 280

Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC

cd05094
Location:524 – 814
Blast Score: 1637

PTKc_TrkC; Catalytic domain of the Protein Tyrosine Kinase, Tropomyosin Related Kinase C

pfam07679
Location:210 – 301
Blast Score: 131

I-set; Immunoglobulin I-set domain

smart00082
Location:160 – 205
Blast Score: 133

LRRCT; Leucine rich repeat C-terminal domain

pfam07714
Location:530 – 802
Blast Score: 1025

Pkinase_Tyr; Protein tyrosine kinase

pfam13855
Location:104 – 160
Blast Score: 147

LRR_8; Leucine rich repeat
NM_002530.3 → NP_002521.2 NT-3 growth factor receptor isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b) compared to isoform a.

Source sequence(s)

AC011966, AC021677, DA789502, U05012

Consensus CDS

CCDS10340.1

UniProtKB/Swiss-Prot

Q16288

Related

ENSP00000347397, ENST00000355254

Conserved Domains (7) summary

cd04971
Location:319 – 396
Blast Score: 341

Ig_TrKABC_d5; Fifth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC

cd04972
Location:211 – 301
Blast Score: 281

Ig_TrkABC_d4; Fourth domain (immunoglobulin-like) of Trk receptors TrkA, TrkB and TrkC

cd05094
Location:532 – 822
Blast Score: 1638

PTKc_TrkC; Catalytic domain of the Protein Tyrosine Kinase, Tropomyosin Related Kinase C

pfam07679
Location:210 – 301
Blast Score: 131

I-set; Immunoglobulin I-set domain

smart00082
Location:160 – 205
Blast Score: 133

LRRCT; Leucine rich repeat C-terminal domain

pfam07714
Location:538 – 810
Blast Score: 1025

Pkinase_Tyr; Protein tyrosine kinase

pfam13855
Location:104 – 160
Blast Score: 146

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

88419988..88799661, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

64532241..64911412, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009711.10 (39124..167618)	None
genomic	AC011966.7 (92444..167861)	None
genomic	AC021677.4 (2001..177761)	None
genomic	AJ224521.1	CAA12029.1
genomic	CH471101.1	EAX01989.1
		EAX01990.1
		EAX01991.1
		EAX01992.1
		EAX01993.1
mRNA	AF052184.1	None
mRNA	AF058389.1	AAC97478.1
mRNA	AF058390.1	AAC97479.1
mRNA	AF125808.1	AAF19762.1
mRNA	AI613045.1	None
mRNA	AK297160.1	BAH12511.1
mRNA	AK302504.1	BAH13730.1
mRNA	AK309695.1	None
mRNA	AK313646.1	None
mRNA	AL134171.1	None
mRNA	AY065844.1	AAL40893.1
mRNA	BC013693.1	AAH13693.1
mRNA	BC128249.1	None
mRNA	BG741347.1	None
mRNA	BI962878.1	None
mRNA	BM675026.1	None
mRNA	BM887782.1	None
mRNA	BQ893817.1	None
mRNA	BT007291.1	AAP35955.1
mRNA	CB053605.1	None
mRNA	CK903553.1	None
mRNA	DA789502.1	None
mRNA	S76475.1	AAB33111.1
mRNA	S76476.1	AAB33112.1
mRNA	U05012.1	AAA75374.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O95192	GenPept	UniProtKB/TrEMBL:O95192
Q16288.2	GenPept	UniProtKB/Swiss-Prot:Q16288
Q8WWU8	GenPept	UniProtKB/TrEMBL:Q8WWU8
Q96CY4	GenPept	UniProtKB/TrEMBL:Q96CY4