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    TAC3 tachykinin precursor 3 [ Homo sapiens (human) ]

    Gene ID: 6866, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TAC3provided by HGNC
    Official Full Name
    tachykinin precursor 3provided by HGNC
    Primary source
    HGNC:HGNC:11521
    See related
    Ensembl:ENSG00000166863 MIM:162330; AllianceGenome:HGNC:11521
    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
    NK3; NKB; HH10; NKNB; PRO1155; ZNEUROK1; LncZBTB39
    Summary
    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]
    Expression
    Restricted expression toward placenta (RPKM 93.9) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57010000..57016529, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56977869..56984399, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57403784..57410313, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902945 Neighboring gene retinol dehydrogenase 16 (all-trans) pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr12.2240 Neighboring gene G protein-coupled receptor 182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4568 Neighboring gene zinc finger and BTB domain containing 39 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57423222-57424059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6521 Neighboring gene myosin IA Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 Neighboring gene nuclear envelope integral membrane protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6525

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Endocytic recycling prevents copper accumulation in astrocytoma cells stimulated with copper-bound neurokinin B. Menon R, et al. Biochem Biophys Res Commun, 2020 Mar 12. PMID 31952788
    2. Neurokinin 3 Receptor Antagonism Reveals Roles for Neurokinin B in the Regulation of Gonadotropin Secretion and Hot Flashes in Postmenopausal Women. Skorupskaite K, et al. Neuroendocrinology, 2018. PMID 28380486
    3. Basal Serum Neurokinin B Levels in Differentiating Idiopathic Central Precocious Puberty from Premature Thelarche. Parlak M, et al. J Clin Res Pediatr Endocrinol, 2017 Jun 1. PMID 28008860, Free PMC Article
    4. Serum neurokinin B levels in newly diagnosed nondipper hypertensive patients. Akkoyun DC, et al. Blood Press Monit, 2015 Jun. PMID 25647283
    5. The role of neurokinin B signalling in reproductive neuroendocrinology. Grachev P, et al. Neuroendocrinology, 2014. PMID 24356581

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The overexpression of neurokinin B-neurokinin 3 receptor system exerts direct effects on the ovary under PCOS-like conditions to interfere with mitochondrial function.
      Title: The overexpression of neurokinin B-neurokinin 3 receptor system exerts direct effects on the ovary under PCOS-like conditions to interfere with mitochondrial function.
    2. Serum kisspeptin, leptin, neuropeptide Y, and neurokinin B levels in adolescents with polycystic ovary syndrome.
      Title: Serum kisspeptin, leptin, neuropeptide Y, and neurokinin B levels in adolescents with polycystic ovary syndrome.
    3. The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty.
      Title: The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty.
    4. Endocytic recycling prevents copper accumulation in astrocytoma cells stimulated with copper-bound neurokinin B.
      Title: Endocytic recycling prevents copper accumulation in astrocytoma cells stimulated with copper-bound neurokinin B.
    5. The administration of an NK3R antagonist indicates a role for Neurokinin B in the regulation of luteinising hormone (LH)/gonadotropin-releasing hormone (GnRH) in postmenopausal women, whereas the lack of response to kisspeptin may reflect the hypo-oestrogenic state. These data support a link of LH/GnRH pulsatility and vasomotor symptoms with NK3R antagonism as a potential therapeutic approach.
      Title: Neurokinin 3 Receptor Antagonism Reveals Roles for Neurokinin B in the Regulation of Gonadotropin Secretion and Hot Flashes in Postmenopausal Women.
    6. Data suggest that basal serum neurokinin B level can be used as an adjunctive parameter to differentiate idiopathic central precocious puberty (ICPP) from premature thelarche (PT).
      Title: Basal Serum Neurokinin B Levels in Differentiating Idiopathic Central Precocious Puberty from Premature Thelarche.
    7. acts through NK3 receptors in granulosa cells to stimulate steroid production
      Title: Neurokinin B Exerts Direct Effects on the Ovary to Stimulate Estradiol Production.
    8. mutations in TAC and TACR3 are not a common cause for ICPP.
      Title: Mutational analysis of TAC and TACR3 in idiopathic central precocious puberty.
    9. Plasma neurokinin B level is higher in patients with NDHT, indicating an unfavorable cardiovascular prognosis.
      Title: Serum neurokinin B levels in newly diagnosed nondipper hypertensive patients.
    10. Colocalization experiments provided evidence for the presence of cocaine- and amphetamine-regulated transcript (CART) in KP-immunoreactive (IR) and perikarya and in KP-IR and NKB-IR axon varicosities.
      Title: Colocalization of cocaine- and amphetamine-regulated transcript with kisspeptin and neurokinin B in the human infundibular region.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in female pregnancy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in neuropeptide signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of blood pressure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tachykinin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tachykinin-3
    Names
    LncZBTB39-1:2
    gamma tachykinin 3
    neurokinin b
    neuromedin K
    preprotachykinin B
    tachykinin 3

    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

    1. NG_021398.1 RefSeqGene

      Range
      5032..11561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178054.2 → NP_001171525.1  tachykinin-3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001171525.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter and lacks the entire Neurokinin-B peptide compared to isoform 1. The encoded isoform (2) and may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AF537121, BE500999, BP212420
      Consensus CDS
      CCDS53803.1
      Related
      ENSP00000408208.1, ENST00000441881.5
      Conserved Domains (1) summary
      pfam03823
      Location:1 → 53
      Neurokinin_B; Neurokinin B

    2. NM_013251.4 → NP_037383.1  tachykinin-3 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_037383.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC032145
      Consensus CDS
      CCDS8928.1
      UniProtKB/Swiss-Prot
      Q6IAG2, Q71BC6, Q71BC9, Q9UHF0
      Related
      ENSP00000404056.2, ENST00000458521.7
      Conserved Domains (1) summary
      pfam03823
      Location:1 → 54
      Neurokinin_B; Neurokinin B

    RNA

    1. NR_033654.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY358679
      Related
      ENST00000357616.7

    2. NR_135164.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains two alternate internal exons resulting in a longer transcript compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF537114, BE500999, BP212420
      Related
      ENST00000438756.5

    3. NR_135165.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate internal exon resulting in a longer transcript compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF537117, BE500999, BP212420

    4. NR_135166.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon and contains an alternate exon resulting in a longer transcript compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF537120, BE500999, BP212420

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57010000..57016529 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56977869..56984399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001006667.1: Suppressed sequence

      Description
      NM_001006667.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHF0.1 GenPept UniProtKB/Swiss-Prot:Q9UHF0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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