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

    Gene ID: 5678, updated on 27-Nov-2024

    Summary

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    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

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    See PSG9 in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene pregnancy specific beta-1-glycoprotein 4 Neighboring gene uncharacterized LOC284344 Neighboring gene CEA cell adhesion molecule pseudogene 10 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:43754009-43754509 Neighboring gene CEA cell adhesion molecule pseudogene 11 Neighboring gene CEA cell adhesion molecule pseudogene 4

    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 nucleotide and deduced amino acid sequences of a cDNA encoding a new species of pregnancy-specific beta 1-glycoprotein (PS beta G). Arakawa F, et al. Biochim Biophys Acta, 1990 Apr 6. PMID 2322584
    2. Characterization of the PSG11 gene. McLenachan PA, et al. Genomics, 1994 Jul 15. PMID 7806221
    3. Differential gene expression profile reveals deregulation of pregnancy specific beta1 glycoprotein 9 early during colorectal carcinogenesis. Salahshor S, et al. BMC Cancer, 2005 Jun 27. PMID 15982419, Free PMC Article
    4. cDNA sequence of the pregnancy-specific beta 1-glycoprotein-11s (PSG-11s). Brophy BK, et al. Biochim Biophys Acta, 1992 May 7. PMID 1581354
    5. PSG9 promotes angiogenesis by stimulating VEGFA production and is associated with poor prognosis in hepatocellular carcinoma. Rong W, et al. Sci China Life Sci, 2017 May. PMID 28078509

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    Submit: New GeneRIF Correction

    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 
    acts_upstream_of_positive_effect regulation of regulatory T cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    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)

    1. 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

    2. 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

    3. 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

    4. 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

    5. 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

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      43253282..43269530 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      46073755..46089999 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321494.1 → XP_054177469.1  pregnancy-specific beta-1-glycoprotein 9 isoform X1

    2. XM_054321493.1 → XP_054177468.1  pregnancy-specific beta-1-glycoprotein 9 isoform X3

    3. XM_054321492.1 → XP_054177467.1  pregnancy-specific beta-1-glycoprotein 9 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00887.2 GenPept UniProtKB/Swiss-Prot:Q00887

    Gene LinkOut

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

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