TAC1 tachykinin precursor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAC1provided by HGNC
Official Full Name: tachykinin precursor 1provided by HGNC
Primary source: HGNC:HGNC:11517
See related: Ensembl:ENSG00000006128 MIM:162320; AllianceGenome:HGNC:11517
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: NK2; NPK; NKNA; TAC2; Hs.2563
Summary: This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
Expression: Biased expression in brain (RPKM 24.6), spleen (RPKM 12.4) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (97732086..97740472)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (98961638..98970024)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (97361398..97369784)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neural Circuitry Involving Substance P in Male Sexual Behavior.
Title: Neural Circuitry Involving Substance P in Male Sexual Behavior.
The role of calcitonin gene-related peptide and substance P in the pathogenesis of dialysis headache.
Title: The role of calcitonin gene-related peptide and substance P in the pathogenesis of dialysis headache.
Substance P, NPY, CCK and their receptors in five brain regions in major depressive disorder with transcriptomic analysis of locus coeruleus neurons.
Title: Substance P, NPY, CCK and their receptors in five brain regions in major depressive disorder with transcriptomic analysis of locus coeruleus neurons.
Deciphering specificity and cross-reactivity in tachykinin NK1 and NK2 receptors.
Title: Deciphering specificity and cross-reactivity in tachykinin NK1 and NK2 receptors.
The Role of Substance P Within Traumatic Brain Injury and Implications for Therapy.
Title: The Role of Substance P Within Traumatic Brain Injury and Implications for Therapy.
Involvement of Substance P (SP) and Its Related NK1 Receptor in Primary Sjogren's Syndrome (pSS) Pathogenesis.
Title: Involvement of Substance P (SP) and Its Related NK1 Receptor in Primary Sjögren's Syndrome (pSS) Pathogenesis.
The neuropeptide substance P/neurokinin-1 receptor system and diabetes: From mechanism to therapy.
Title: The neuropeptide substance P/neurokinin-1 receptor system and diabetes: From mechanism to therapy.
Concentration of substance P in patients with atopic dermatitis with and without past history of treatment.
Title: Concentration of substance P in patients with atopic dermatitis with and without past history of treatment.
Temporospatial Expression of Neuropeptide Substance P in Dental Pulp Stem Cells During Odontoblastic Differentiation in Vitro and Reparative Dentinogenesis in Vivo.
Title: Temporospatial Expression of Neuropeptide Substance P in Dental Pulp Stem Cells During Odontoblastic Differentiation in Vitro and Reparative Dentinogenesis in Vivo.
Substance P and Prokineticin-2 are overexpressed in olfactory neurons and play differential roles in persons with persistent post-COVID-19 olfactory dysfunction.
Title: Substance P and Prokineticin-2 are overexpressed in olfactory neurons and play differential roles in persons with persistent post-COVID-19 olfactory dysfunction.

Submit: New GeneRIF Correction See all GeneRIFs (174)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Cannabinoid inhibits HIV-1 gp120-induced calcium influx mediated by substance P in human brain micro vascular endothelial cells (HBMEC)	PubMed
	env	Addition of HIV-1 gp120 to monocyte-derived macrophages (MDM) enhances substance P (SP) expression; this gp120-induced SP expression is abrogated by pretreating the cells with soluble CD4	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-19154 (e-PCR)
- UniSTS:76062

STS-U37529 (e-PCR)
- UniSTS:39267

TAC2 (e-PCR)
- UniSTS:29301

D1S3260 (e-PCR)
- UniSTS:14206

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables neuromedin K receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed
enables substance K receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables substance P receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables substance P receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	IDA Inferred from Direct Assay more info	PubMed
involved_in antifungal humoral response	IDA Inferred from Direct Assay more info	PubMed
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to nerve growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in defense response to Gram-negative bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of abiotic stimulus	TAS Traceable Author Statement more info	PubMed
involved_in detection of temperature stimulus involved in sensory perception of pain	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in insemination	TAS Traceable Author Statement more info	PubMed
involved_in killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of systemic arterial blood pressure	IDA Inferred from Direct Assay more info	PubMed
involved_in neuropeptide signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cytosolic calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of flagellated sperm motility	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of sensory perception of pain	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of sensory perception of pain	IDA Inferred from Direct Assay more info	PubMed
involved_in response to pain	IEA Inferred from Electronic Annotation more info
involved_in response to yeast	IDA Inferred from Direct Assay more info	PubMed
involved_in sensory perception of pain	IEA Inferred from Electronic Annotation more info
involved_in tachykinin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in tachykinin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protachykinin-1

Names: PPT; neurokinin 1; neurokinin 2; neurokinin A; neurokinin alpha; neuromedin L; neuropeptide K; neuropeptide gamma; preprotachykinin; protachykinin; substance K; substance P; tachykinin 2; tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_003182.3 → NP_003173.1 protachykinin-1 isoform beta precursor

See identical proteins and their annotated locations for NP_003173.1

Status: REVIEWED

Description

Transcript Variant: Transcript variant beta encodes the full-length form of this gene. It encodes hormones substance P, neurokinin A, as well as the neuropeptide K.

Source sequence(s)

AF050655, DN992454, U37529

Consensus CDS

CCDS5649.1

UniProtKB/Swiss-Prot

O60600, O60601, P20366, Q00072, Q53GH4, Q549V0, Q549V1, Q549V2, Q6FHM1

Related

ENSP00000321106.5, ENST00000319273.10
NM_013996.3 → NP_054702.1 protachykinin-1 isoform alpha precursor

See identical proteins and their annotated locations for NP_054702.1

Status: REVIEWED

Description

Transcript Variant: As compared to the full-length transcript variant beta, variant alpha lacks exon 6, and therefore does not encode neuropeptide K, neurokinin A, or neuropeptide gamma. This transcript does encode the hormone substance P located on exon 3.

Source sequence(s)

AF050656, DN992454, U37529

Consensus CDS

CCDS5650.1

UniProtKB/Swiss-Prot

P20366

Related

ENSP00000289576.4, ENST00000350485.8
NM_013997.3 → NP_054703.1 protachykinin-1 isoform gamma precursor

See identical proteins and their annotated locations for NP_054703.1

Status: REVIEWED

Description

Transcript Variant: As compared to the full-length transcript variant beta, variant gamma lacks exon 4, and therefore does not encode neuropeptide K. This transcript does encode substance P, neurokinin A, and is the only variant that encodes neuropeptide gamma.

Source sequence(s)

AF050657, DN992454, U37529

Consensus CDS

CCDS5651.1

UniProtKB/Swiss-Prot

P20366

UniProtKB/TrEMBL

Q9Y494

Related

ENSP00000289574.4, ENST00000346867.4
NM_013998.3 → NP_054704.1 protachykinin-1 isoform delta precursor

See identical proteins and their annotated locations for NP_054704.1

Status: REVIEWED

Description

Transcript Variant: As compared to the full-length transcript variant beta, variant delta lacks both exons 4 and 6; therefore, it does not encode neurokinin A, neuropeptide K, or neuropeptide gamma. It does encode the hormone substance P located on exon 3.

Source sequence(s)

AF050658, DN992454, U37529

UniProtKB/Swiss-Prot

P20366