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SPX spexin hormone [ Homo sapiens (human) ]

Gene ID: 80763, updated on 5-Mar-2024

Summary

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Official Symbol
SPXprovided by HGNC
Official Full Name
spexin hormoneprovided by HGNC
Primary source
HGNC:HGNC:28139
See related
Ensembl:ENSG00000134548 MIM:619246; AllianceGenome:HGNC:28139
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
SPX1; C12orf39
Summary
The protein encoded by this gene is a hormone involved in modulation of cardiovascular and renal function. It has also been shown in rats to cause weight loss. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
Expression
Biased expression in fat (RPKM 72.3), thyroid (RPKM 9.5) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
12p12.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (21526296..21532947)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (21405263..21411916)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (21679230..21685881)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 1 Neighboring gene RecQ like helicase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6090 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21654373-21655080 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21655081-21655788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6092 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:21663989-21664186 Neighboring gene golgi transport 1B Neighboring gene uncharacterized LOC124902896 Neighboring gene glycogen synthase 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:21710858-21712057 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:21748286-21748889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6094 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21810675-21811203 Neighboring gene lactate dehydrogenase B

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. The role of spexin in energy metabolism. Sun X, et al. Peptides, 2023 Jun. PMID 36914115
  2. Serum spexin levels are not associated with size at birth but are associated with metabolic syndrome components in prepubertal children born at term. Öztürk Önsal FD, et al. J Pediatr Endocrinol Metab, 2022 May 25. PMID 35334196
  3. The effect of umbilical cord blood spexin, free 25(OH) vitamin D3 and adipocytokine levels on intrauterine growth and anthropometric measurements in newborns. Sanli S, et al. Cytokine, 2021 Aug. PMID 34010726
  4. Spexin-expressing neurons in the magnocellular nuclei of the human hypothalamus. Pałasz A, et al. J Chem Neuroanat, 2021 Jan. PMID 33161073
  5. Different spexin level in obese vs normal weight children and its relationship with obesity related risk factors. Behrooz M, et al. Nutr Metab Cardiovasc Dis, 2020 Apr 12. PMID 32139252

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Normalization of Spexin Levels in Patients with Obesity Submitted to Bariatric Surgery.
    Title: Normalization of Spexin Levels in Patients with Obesity Submitted to Bariatric Surgery.
  2. Spexin role in human granulosa cells physiology and PCOS: expression and negative impact on steroidogenesis and proliferationdagger.
    Title: Spexin role in human granulosa cells physiology and PCOS: expression and negative impact on steroidogenesis and proliferation†.
  3. The role of spexin in energy metabolism.
    Title: The role of spexin in energy metabolism.
  4. Serum spexin levels are not associated with size at birth but are associated with metabolic syndrome components in prepubertal children born at term.
    Title: Serum spexin levels are not associated with size at birth but are associated with metabolic syndrome components in prepubertal children born at term.
  5. The effect of umbilical cord blood spexin, free 25(OH) vitamin D3 and adipocytokine levels on intrauterine growth and anthropometric measurements in newborns.
    Title: The effect of umbilical cord blood spexin, free 25(OH) vitamin D3 and adipocytokine levels on intrauterine growth and anthropometric measurements in newborns.
  6. The Association of Serum Circulating Neuropeptide Q and Chemerin Levels with Cardiometabolic Risk Factors among Patients with Metabolic Syndrome.
    Title: The Association of Serum Circulating Neuropeptide Q and Chemerin Levels with Cardiometabolic Risk Factors among Patients with Metabolic Syndrome.
  7. Spexin-expressing neurons in the magnocellular nuclei of the human hypothalamus.
    Title: Spexin-expressing neurons in the magnocellular nuclei of the human hypothalamus.
  8. Maternal and umbilical cord blood subfatin and spexin levels in patients with gestational diabetes mellitus.
    Title: Maternal and umbilical cord blood subfatin and spexin levels in patients with gestational diabetes mellitus.
  9. Different spexin level in obese vs normal weight children and its relationship with obesity related risk factors.
    Title: Different spexin level in obese vs normal weight children and its relationship with obesity related risk factors.
  10. Spexin levels were significantly higher in women with gestational diabetes and closely related to HOMA-IR in the third trimester pregnancy.
    Title: Serum levels of spexin are increased in the third trimester pregnancy with gestational diabetes mellitus.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC10946

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables neuropeptide hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables neuropeptide hormone activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in long-chain fatty acid import into cell ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of appetite ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of heart rate ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of renal sodium excretion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of gastro-intestinal system smooth muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of gastro-intestinal system smooth muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of systemic arterial blood pressure ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in dense core granule IDA
Inferred from Direct Assay
more info
 PubMed 
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 transport vesicle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
spexin
Names
NPQ
neuropeptide Q

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)

  1. NM_030572.4 → NP_085049.1  spexin precursor

    See identical proteins and their annotated locations for NP_085049.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the protein-coding transcript.
    Source sequence(s)
    AC006559, AK075342, CR742701, DA380664, DB159488
    Consensus CDS
    CCDS31757.1
    UniProtKB/Swiss-Prot
    B3KND6, Q9BT56
    Related
    ENSP00000256969.2, ENST00000256969.7
    Conserved Domains (1) summary
    pfam15171
    Location:27 → 116
    Spexin; Neuropeptide secretory protein family, NPQ, spexin

RNA

  1. NR_135187.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' end compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AC006559, AK075342, CR742701, DA260291, DB159488

  2. NR_135188.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' end compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AC006559, AK075342, CR742701, DA071522, DB159488

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
    21526296..21532947
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    21405263..21411916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BT56.1 GenPept UniProtKB/Swiss-Prot:Q9BT56

Gene LinkOut

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