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This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded preproprotein is proteolytically processed to generate the mature peptide, which is primarily expressed in the central and peripheral nervous systems and functions as a neurotransmitter. This peptide is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
TAC3 (Tachykinin Precursor 3) is a Protein Coding gene. Diseases associated with TAC3 include Hypogonadotropic Hypogonadism 10 With Or Without Anosmia and Normosmic Congenital Hypogonadotropic Hypogonadism. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include signaling receptor binding.
The tachykinin peptides constitute one of the largest peptide families. To date, more than 40 tachykinins have been identified from invertebrate and vertebrate species. In mammals, three prototypical tachykinins have been isolated from neuronal tissue: substance P, neurokinin A and neurokinin B. Recently hemokinin-1 has been isolated from murine blood cells and identified as a new endogenous tachykinin. Three main tachykinin receptor types have been identified: NK1, NK2 and NK3 receptors.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | TAS | 10866201 |
GO:0005515 | protein binding | IPI | 32296183 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | TAS | 10866201 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors | ||
2 | Signaling by GPCR | ||
3 | RET signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
GO:0007217 | tachykinin receptor signaling pathway | TAS,IEA | -- |
GO:0007218 | neuropeptide signaling pathway | IEA | -- |
GO:0007565 | female pregnancy | TAS | 10866201 |
GO:0045777 | positive regulation of blood pressure | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
SB 223412 |
|
174636-32-9 |
|
|
Compound | Action | Cas Number |
---|---|---|
SB 218795 | Potent, selective non-peptide NK3 antagonist | 174635-53-1 |
SB 222200 | Potent, selective non-peptide NK3 antagonist. Brain penetrant | 174635-69-9 |
SB 223412 | Potent, selective non-peptide NK3 antagonist. Brain penetrant | 174636-32-9 |
Senktide | Tachykinin NK3 agonist | 106128-89-6 |
SSR 146977 hydrochloride | Potent and selective NK3 antagonist | 264618-38-4 |
Compound | Action | Cas Number |
---|---|---|
Antagonist G | 115150-59-9 | |
Eledoisin-Related Peptide | 2990-43-4 | |
Fosaprepitant | Neurokinin-1 antagonist | 172673-20-0 |
Fosaprepitant dimeglumine salt | Neurokinin-1 antagonist | 265121-04-8 |
Locustatachykinin I | 126985-97-5 | |
Neurokinin A (porcine) | 86933-74-6 | |
Neurokinin B (human, porcine) | 86933-75-7 | |
Substance P | 33507-63-0 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||
SP9: | - | - | - | - | - | ||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TAC3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TAC3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TAC3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tac2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tac3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TAC3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TAC3 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TAC3 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057521962 | Likely Benign: not specified | 57,010,288(-) |
A/G NM_013251.4(TAC3):c.*2T>C |
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR | |
rs121918123 | Pathogenic: Hypogonadotropic hypogonadism 10 without anosmia; not provided. Hypogonadotropic hypogonadism 10 with or without anosmia (HH10) [MIM:614839] | 57,012,845(-) |
A/Gp.Met90Thr NM_013251.4(TAC3):c.269T>C (p.Met90Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
rs141908560 | Likely Benign: not provided | 57,012,424(-) |
G/A NM_013251.4(TAC3):c.321C>T (p.Asn107=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs143862988 | Likely Pathogenic: Delayed puberty | 57,012,866(-) |
T/C NM_013251.4(TAC3):c.248A>G (p.His83Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
rs17119330 | Benign: not provided | 57,015,455(-) |
G/A NM_013251.4(TAC3):c.114+229C>T |
INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypogonadotropic hypogonadism 10 with or without anosmia |
|
|
normosmic congenital hypogonadotropic hypogonadism |
|
|
eclampsia |
|
|
hypogonadotropic hypogonadism |
|
|
hypogonadism |
|
|