PSG9 pregnancy specific beta-1-glycoprotein 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSG9provided by HGNC
Official Full Name: pregnancy specific beta-1-glycoprotein 9provided by HGNC
Primary source: HGNC:HGNC:9526
See related: Ensembl:ENSG00000183668 MIM:176398; AllianceGenome:HGNC:9526
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PS34; PSG11; PSGII; PSBG-9; PSBG-11
Summary: The protein encoded by this gene is a member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]
Expression: Restricted expression toward placenta (RPKM 51.2) See more
Orthologs: all
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Genomic context

Location:: 19q13.31

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (43253282..43269530, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (46073755..46089999, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (43757434..43773682, complement)

Chromosome 19 - NC_000019.10 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 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?

PSG7 and 9 (Pregnancy-Specific beta-1 Glycoproteins 7 and 9): Novel Biomarkers for Preeclampsia.
Title: PSG7 and 9 (Pregnancy-Specific β-1 Glycoproteins 7 and 9): Novel Biomarkers for Preeclampsia.
Plasma OPN + MMP7 + PSG9 elevation in combination was a prognostic factor for overall survival in hepatocellular carcinoma
Title: Post-surgical resection prognostic value of combined OPN, MMP7, and PSG9 plasma biomarkers in hepatocellular carcinoma.
Results indicate that pregnancy-specific glycoprotein 9 (PSG9) may facilitate the development of hepatocellular carcinoma (HCC) by fostering angiogenesis via promoting VEGFA production in cancer HCC.
Title: PSG9 promotes angiogenesis by stimulating VEGFA production and is associated with poor prognosis in hepatocellular carcinoma.
Findings illustrate the innovative mechanism by which PSG9 drives the progression of colorectal cancer and tumor angiogenesis. This occurs via nuclear translocation of PSG9/SMAD4, which activates angiogenic cytokines.
Title: Pregnancy-specific glycoprotein 9 (PSG9), a driver for colorectal cancer, enhances angiogenesis via activation of SMAD4.
PSG9, through its activation of TGFbeta-1, could be a potent inducer of immune tolerance
Title: PSG9 Stimulates Increase in FoxP3+ Regulatory T-Cells through the TGF-β1 Pathway.
PSG9 may have a role in development of colorectal carcinogenesis in patients with adenomatous polyposis coli
Title: Differential gene expression profile reveals deregulation of pregnancy specific beta1 glycoprotein 9 early during colorectal carcinogenesis.

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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 protein tyrosine kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Fc receptor mediated inhibitory signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in female pregnancy	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cytokine production involved in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of immune system process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_positive_effect regulation of regulatory T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in tolerance induction dependent upon immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of transforming growth factor beta ligand-receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pregnancy-specific beta-1-glycoprotein 9

Names: PS-beta-B; PS-beta-G-11; PS-beta-G-9; pregnancy specific beta-1-glycoprotein 11; pregnancy-specific beta-1 glycoprotein B; pregnancy-specific beta-1-glycoprotein 11 C-R domain

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_001301707.2 → NP_001288636.1 pregnancy-specific beta-1-glycoprotein 9 isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1. Variants 2 and 3 encode isoforms of the same size, but contain internal differences.

Source sequence(s)

AK300229, BC005925, DC380417, M34481

Consensus CDS

CCDS77312.1

UniProtKB/TrEMBL

B4DTI5, E7EW65

Related

ENSP00000396753.2, ENST00000443718.7

Conserved Domains (4) summary

cd05774
Location:36 → 133

Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)

smart00410
Location:246 → 320

IG_like; Immunoglobulin like

pfam13895
Location:242 → 320

Ig_2; Immunoglobulin domain

cl11960
Location:149 → 236

Ig; Immunoglobulin domain
NM_001301708.2 → NP_001288637.1 pregnancy-specific beta-1-glycoprotein 9 isoform 3 precursor

See identical proteins and their annotated locations for NP_001288637.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 3 which is shorter than isoform 1. Variants 2 and 3 encode isoforms of the same size, but contain internal differences.

Source sequence(s)

BC005925, DC380417, M34481

Consensus CDS

CCDS77314.1

UniProtKB/TrEMBL

M0R0U8

Related

ENSP00000471453.1, ENST00000593948.5

Conserved Domains (4) summary

cd05774
Location:36 → 133

Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)

smart00410
Location:246 → 320

IG_like; Immunoglobulin like

pfam13895
Location:242 → 320

Ig_2; Immunoglobulin domain

cl11960
Location:148 → 236

Ig; Immunoglobulin domain
NM_001301709.2 → NP_001288638.1 pregnancy-specific beta-1-glycoprotein 9 isoform 4 precursor

See identical proteins and their annotated locations for NP_001288638.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks two consecutive, alternate in-frame exons in the coding region, compared to variant 1. It encodes isoform 4 which is shorter than isoform 1.

Source sequence(s)

BC005925, DC380417, M34481, U25987

Consensus CDS

CCDS77311.1

UniProtKB/TrEMBL

G3XAA7, Q13178

Related

ENSP00000291752.4, ENST00000291752.9

Conserved Domains (3) summary

cd05774
Location:36 → 133

Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)

smart00410
Location:153 → 227

IG_like; Immunoglobulin like

pfam13895
Location:149 → 227

Ig_2; Immunoglobulin domain
NM_001411075.1 → NP_001398004.1 pregnancy-specific beta-1-glycoprotein 9 isoform 5 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (5) represents the longest transcript. It encodes isoform 5 which has a novel C-terminus compared to isoform 1.

Source sequence(s)

AC005392

Consensus CDS

CCDS92636.1

Related

ENSP00000244293.7, ENST00000244293.11
NM_002784.5 → NP_002775.3 pregnancy-specific beta-1-glycoprotein 9 isoform 1 precursor

See identical proteins and their annotated locations for NP_002775.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC005925, DC380417, M34481

Consensus CDS

CCDS12618.1

UniProtKB/Swiss-Prot

B2R869, Q00887, Q15227, Q15236, Q15237, Q8WW78, Q9UQ73

UniProtKB/TrEMBL

Q6LEU7

Related

ENSP00000270077.3, ENST00000270077.8

Conserved Domains (4) summary

cd05774
Location:36 → 133

Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)

smart00410
Location:339 → 413

IG_like; Immunoglobulin like

pfam13895
Location:335 → 413

Ig_2; Immunoglobulin domain

cl11960
Location:148 → 236

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

43253282..43269530 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017027007.3 → XP_016882496.1 pregnancy-specific beta-1-glycoprotein 9 isoform X1

UniProtKB/TrEMBL

A0A087WYK1

Conserved Domains (4) summary

cd05774
Location:36 → 133

Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)

smart00410
Location:339 → 413

IG_like; Immunoglobulin like

pfam13895
Location:335 → 413

Ig_2; Immunoglobulin domain

cl11960
Location:148 → 236

Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

46073755..46089999 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321494.1 → XP_054177469.1 pregnancy-specific beta-1-glycoprotein 9 isoform X1
XM_054321493.1 → XP_054177468.1 pregnancy-specific beta-1-glycoprotein 9 isoform X3
XM_054321492.1 → XP_054177467.1 pregnancy-specific beta-1-glycoprotein 9 isoform X2