SPX spexin hormone [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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†.
The role of spexin in energy metabolism.
Title: The role of spexin in energy metabolism.
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.
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.
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.
Spexin-expressing neurons in the magnocellular nuclei of the human hypothalamus.
Title: Spexin-expressing neurons in the magnocellular nuclei of the human hypothalamus.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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

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
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