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    PSG6 pregnancy specific beta-1-glycoprotein 6 [ Homo sapiens (human) ]

    Gene ID: 5675, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PSG6provided by HGNC
    Official Full Name
    pregnancy specific beta-1-glycoprotein 6provided by HGNC
    Primary source
    HGNC:HGNC:9523
    See related
    Ensembl:ENSG00000170848 MIM:176395; AllianceGenome:HGNC:9523
    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
    PSG10; PSGGB; PSBG-6; PSBG-10; PSBG-12
    Summary
    This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
    Expression
    Restricted expression toward placenta (RPKM 62.8) See more
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    Genomic context

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    See PSG6 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 (42902086..42917894, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (45721042..45736850, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (43406238..43422046, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene pregnancy specific beta-1-glycoprotein 10, pseudogene Neighboring gene pregnancy specific beta-1-glycoprotein 1 Neighboring gene pregnancy specific beta-1-glycoprotein 7 Neighboring gene CEA cell adhesion molecule pseudogene 7

    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 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. Subtle differences in human pregnancy-specific glycoprotein gene promoters allow for differential expression. Chamberlin ME, et al. J Biol Chem, 1994 Jun 24. PMID 8006022
    2. Characterization of cDNAs of the human pregnancy-specific beta 1-glycoprotein family, a new subfamily of the immunoglobulin gene superfamily. Zheng QX, et al. Biochemistry, 1990 Mar 20. PMID 2346748
    3. Characterization of two new members of the pregnancy-specific beta 1-glycoprotein family from the myeloid cell line KG-1 and suggestion of two distinct classes of transcription unit. Barnett TR, et al. Biochemistry, 1990 Nov 6. PMID 2271648
    4. cDNA cloning demonstrates the expression of pregnancy-specific glycoprotein genes, a subgroup of the carcinoembryonic antigen gene family, in fetal liver. Zimmermann W, et al. Biochem Biophys Res Commun, 1989 Sep 29. PMID 2783133
    5. Linkage of two human pregnancy-specific beta 1-glycoprotein genes: one is associated with hydatidiform mole. Leslie KK, et al. Proc Natl Acad Sci U S A, 1990 Aug. PMID 2377620, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Potential readthrough

    Included gene: PSG2

    Potential readthrough

    Included gene: PSG11

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein tyrosine kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in female pregnancy NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of immune system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    pregnancy-specific beta-1-glycoprotein 6
    Names
    PS-beta-G-10
    PS-beta-G-12
    PS-beta-G-6
    pregnancy-specific beta-1-glycoprotein 10
    pregnancy-specific beta-1-glycoprotein 12

    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_001031850.4 → NP_001027020.1  pregnancy-specific beta-1-glycoprotein 6 isoform b precursor

      See identical proteins and their annotated locations for NP_001027020.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI148792, BC020652, DA833634
      Consensus CDS
      CCDS33038.1
      UniProtKB/Swiss-Prot
      Q00889
      Related
      ENSP00000187910.3, ENST00000187910.7
      Conserved Domains (3) summary
      pfam13895
      Location:334 → 412
      Ig_2; Immunoglobulin domain
      cd05774
      Location:36 → 139
      Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)
      cl11960
      Location:241 → 328
      Ig; Immunoglobulin domain

    2. NM_002782.5 → NP_002773.1  pregnancy-specific beta-1-glycoprotein 6 isoform a precursor

      See identical proteins and their annotated locations for NP_002773.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      DA833634, M33666
      Consensus CDS
      CCDS12613.1
      UniProtKB/Swiss-Prot
      O75244, Q00889, Q15224, Q15235, Q549K1
      Related
      ENSP00000292125.2, ENST00000292125.6
      Conserved Domains (4) summary
      cd05774
      Location:36 → 139
      Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)
      smart00410
      Location:338 → 398
      IG_like; Immunoglobulin like
      pfam13895
      Location:334 → 412
      Ig_2; Immunoglobulin domain
      cl11960
      Location:241 → 328
      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
      42902086..42917894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      45721042..45736850 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00889.1 GenPept UniProtKB/Swiss-Prot:Q00889

    Gene LinkOut

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

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