TAC4 tachykinin precursor 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAC4provided by HGNC
Official Full Name: tachykinin precursor 4provided by HGNC
Primary source: HGNC:HGNC:16641
See related: Ensembl:ENSG00000176358 MIM:607833; AllianceGenome:HGNC:16641
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: EK; HK1; HK-1; PPT-C
Summary: This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (49838300..49848069, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (50701401..50711169, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (47915662..47925431, complement)

Chromosome 17 - NC_000017.11 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?

Serum level of hemokinin-1 is significantly lower in patients with chronic spontaneous urticaria than in healthy subjects.
Title: Serum level of hemokinin-1 is significantly lower in patients with chronic spontaneous urticaria than in healthy subjects.
Hemokinin-1 and substance P stimulate production of inflammatory cytokines and chemokines in human colonic mucosa via both NK1 and NK2 tachykinin receptors.
Title: Hemokinin-1 and substance P stimulate production of inflammatory cytokines and chemokines in human colonic mucosa via both NK(1) and NK(2) tachykinin receptors.
Kinase activation led to increased MMP-2 and MT1-MMP expression and melanoma cell migration induced by hHK-1. Thus, hHK-1 and the NK1 receptor are critical to melanoma cell migration and each may be a promising chemotherapeutic target
Title: Human hemokinin-1 promotes migration of melanoma cells and increases MMP-2 and MT1-MMP expression by activating tumor cell NK1 receptors.
expressed in mural granulosa and cumulus cells
Title: Expression of Tachykinins and Tachykinin Receptors and Interaction with Kisspeptin in Human Granulosa and Cumulus Cells.
Expression substance P/neurokinin A/hemokinin-1 and their preferred neurokinin 1/neurokinin 2 receptors are dysregulated in uterine leiomyomata.
Title: Altered expression of the tachykinins substance P/neurokinin A/hemokinin-1 and their preferred neurokinin 1/neurokinin 2 receptors in uterine leiomyomata.
HKs emerge as pivotal endogenous regulators of angiogenesis through neurokinin-1 receptor
Title: Hemokinins modulate endothelium function and promote angiogenesis through neurokinin-1 receptor.
Data provide evidence for the first time that hemokinin-1, like substance P, may be involved in the pathophysiology of inflammatory bowel disease.
Title: Distinct differences in tachykinin gene expression in ulcerative colitis, Crohn's disease and diverticular disease: a role for hemokinin-1?
HK-1 and substance P are novel T helper (Th)17 cell-inducing factors that may act locally on memory T cells to amplify inflammatory responses.
Title: The tachykinins substance P and hemokinin-1 favor the generation of human memory Th17 cells by inducing IL-1β, IL-23, and TNF-like 1A expression by monocytes.
Endogenous expression of hemokinin-1 is demonstrated in bronchi and is involved in contraction of airway explants.
Title: Expression and function of human hemokinin-1 in human and guinea pig airways.
hHK-1 and its C-terminal fragments are human NK1 receptor agonists with different functional selectivity properties and that such functional selectivity leads to differential activation of downstream signaling and receptor trafficking.
Title: The N-terminal domain of human hemokinin-1 influences functional selectivity property for tachykinin receptor neurokinin-1.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH70419 (e-PCR)
- UniSTS:75549

D17S1795 (e-PCR), detects polymorphism
- UniSTS:16444

NoName (e-PCR)
- UniSTS:481884

SHGC-152919 (e-PCR)
- UniSTS:177620

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 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 negative regulation of sensory perception of pain	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 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 blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of sensory perception of pain	IDA Inferred from Direct Assay more info	PubMed
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
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

General protein information

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Preferred Names: tachykinin-4

Names: endokinin; preprotachykinin-C; tachykinin 4 (hemokinin)

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.

Genomic

NG_029377.2 RefSeqGene

Range

5000..14769

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001077503.2 → NP_001070971.1 tachykinin-4 isoform beta precursor

See identical proteins and their annotated locations for NP_001070971.1

Status: REVIEWED

Description

Transcript Variant: This variant (beta) uses an alternate in-frame splice site in the 5' coding region and skips an alternate in-frame exon in the 3' coding region, compared to variant alpha. The resulting protein (isoform beta) is shorter than isoform alpha.

Source sequence(s)

AC027801

Consensus CDS

CCDS42359.1

UniProtKB/Swiss-Prot

Q86UU9

Related

ENSP00000381221.1, ENST00000398154.5
NM_001077504.2 → NP_001070972.1 tachykinin-4 isoform gamma precursor

See identical proteins and their annotated locations for NP_001070972.1

Status: REVIEWED

Description

Transcript Variant: This variant (gamma) uses an alternate in-frame splice site in the 5' coding region and skips an alternate in-frame exon in the 3' coding region, compared to variant alpha. The resulting protein (isoform gamma) is shorter than isoform alpha.

Source sequence(s)

AC027801

Consensus CDS

CCDS42360.1

UniProtKB/Swiss-Prot

Q86UU9

Related

ENSP00000325286.5, ENST00000326219.5
NM_001077505.2 → NP_001070973.1 tachykinin-4 isoform delta precursor

See identical proteins and their annotated locations for NP_001070973.1

Status: REVIEWED

Description

Transcript Variant: This variant (delta) uses an alternate in-frame splice site in the 5' coding region and skips two alternate in-frame exons in the 3' coding region, compared to variant alpha. The resulting protein (isoform delta) is shorter than isoform alpha.

Source sequence(s)

AC027801

Consensus CDS

CCDS42358.1

UniProtKB/Swiss-Prot

Q86UU9

Related

ENSP00000340461.2, ENST00000352793.6
NM_001077506.2 → NP_001070974.1 tachykinin-4 isoform alpha-2 precursor

See identical proteins and their annotated locations for NP_001070974.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha-2) uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha. The resulting protein (isoform alpha-2) is shorter than isoform alpha.

Source sequence(s)

AC027801

Consensus CDS

CCDS45727.1

UniProtKB/Swiss-Prot

Q86UU9

Related

ENSP00000399702.1, ENST00000436235.6
NM_170685.3 → NP_733786.2 tachykinin-4 isoform alpha precursor

See identical proteins and their annotated locations for NP_733786.2

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) represents the longest transcript and encodes the longest isoform (alpha).

Source sequence(s)

AC027801

Consensus CDS

CCDS42357.1

UniProtKB/Swiss-Prot

Q2M2P1, Q6ECK8, Q86UU6, Q86UU7, Q86UU8, Q86UU9, Q8IWZ7

Related

ENSP00000334042.4, ENST00000334568.8