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PSG8 pregnancy specific beta-1-glycoprotein 8 [ Homo sapiens (human) ]

Gene ID: 440533, updated on 3-Apr-2024

Summary

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Official Symbol
PSG8provided by HGNC
Official Full Name
pregnancy specific beta-1-glycoprotein 8provided by HGNC
Primary source
HGNC:HGNC:9525
See related
Ensembl:ENSG00000124467 MIM:176397; AllianceGenome:HGNC:9525
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
PSG1
Summary
The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
Expression
Restricted expression toward placenta (RPKM 46.5) See more
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Genomic context

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See PSG8 in Genome Data Viewer
Location:
19q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (42752686..42765678, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (45571645..45584627, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (43256838..43269830, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:43179943-43180536 Neighboring gene ribosomal protein S10 pseudogene 28 Neighboring gene pregnancy specific beta-1-glycoprotein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:43245994-43246209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:43278258-43278758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:43278759-43279259 Neighboring gene CEA cell adhesion molecule pseudogene 6 Neighboring gene PSG8 antisense RNA 1

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. Exon-intron organization of a gene for pregnancy-specific beta 1-glycoprotein, a subfamily member of CEA family: implications for its characteristic repetitive domains and C-terminal sequences. Oikawa S, et al. Biochem Biophys Res Commun, 1988 Oct 14. PMID 3263130
  2. Expression of the pregnancy-specific beta 1-glycoprotein genes in human testis. Borjigin J, et al. Biochem Biophys Res Commun, 1990 Jan 30. PMID 2302228
  3. DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes. Coto E, et al. Immunogenetics, 1991. PMID 1672663
  4. The pregnancy-specific glycoprotein family of the immunoglobulin superfamily: identification of new members and estimation of family size. Khan WN, et al. Genomics, 1992 Apr. PMID 1572651
  5. Gene organization of the pregnancy-specific glycoprotein region on human chromosome 19: assembly and analysis of a 700-kb cosmid contig spanning the region. Olsen A, et al. Genomics, 1994 Oct. PMID 7851895

See all (10) 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

Homology

Clone Names

  • DKFZp781L10202

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein tyrosine kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
  
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 8
Names
C1 alternate
C2 alternate
C3 alternate
PS-beta-G-8
PSBG-8
pregnancy-specific beta-1 glycoprotein
pregnancy-specific glycoprotein 8

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_001130167.2 → NP_001123639.1  pregnancy-specific beta-1-glycoprotein 8 isoform b precursor

    See identical proteins and their annotated locations for NP_001123639.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC004654, BC137500, BC142628, BX114490
    Consensus CDS
    CCDS46091.1
    UniProtKB/TrEMBL
    Q96QL5
    Related
    ENSP00000385869.3, ENST00000404209.8
    Conserved Domains (4) summary
    cd05774
    Location:36 → 138
    Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)
    smart00410
    Location:339 → 411
    IG_like; Immunoglobulin like
    pfam13895
    Location:335 → 413
    Ig_2; Immunoglobulin domain
    cl11960
    Location:148 → 236
    Ig; Immunoglobulin domain

  2. NM_001130168.2 → NP_001123640.1  pregnancy-specific beta-1-glycoprotein 8 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC004654, AL545004, BC137500, BC142628, BX114490
    Consensus CDS
    CCDS46090.1
    UniProtKB/TrEMBL
    B4DTG5
    Related
    ENSP00000385081.3, ENST00000406636.7
    Conserved Domains (3) summary
    smart00410
    Location:217 → 289
    IG_like; Immunoglobulin like
    pfam13895
    Location:213 → 291
    Ig_2; Immunoglobulin domain
    cl11960
    Location:26 → 114
    Ig; Immunoglobulin domain

  3. NM_182707.3 → NP_874366.1  pregnancy-specific beta-1-glycoprotein 8 isoform a precursor

    See identical proteins and their annotated locations for NP_874366.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    BC137500
    Consensus CDS
    CCDS33037.1
    UniProtKB/Swiss-Prot
    A5PKV3, B2RPL4, B4DTI6, O60410, Q68CR6, Q9UQ74
    UniProtKB/TrEMBL
    A0A087WT09
    Related
    ENSP00000305005.4, ENST00000306511.5
    Conserved Domains (3) summary
    pfam13895
    Location:335 → 413
    Ig_2; Immunoglobulin domain
    cd05774
    Location:36 → 138
    Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)
    cl11960
    Location:148 → 236
    Ig; Immunoglobulin domain

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    42752686..42765678 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438850.1 → XP_047294806.1  pregnancy-specific beta-1-glycoprotein 8 isoform X4

  2. XM_047438848.1 → XP_047294804.1  pregnancy-specific beta-1-glycoprotein 8 isoform X2

  3. XM_011526986.2 → XP_011525288.1  pregnancy-specific beta-1-glycoprotein 8 isoform X1

    UniProtKB/TrEMBL
    Q9UPK8
    Conserved Domains (4) summary
    cd05774
    Location:36 → 138
    Ig_CEACAM_D1; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM)
    smart00410
    Location:246 → 318
    IG_like; Immunoglobulin like
    pfam13895
    Location:242 → 320
    Ig_2; Immunoglobulin domain
    cl11960
    Location:148 → 236
    Ig; Immunoglobulin domain

  4. XM_047438849.1 → XP_047294805.1  pregnancy-specific beta-1-glycoprotein 8 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    45571645..45584627 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321050.1 → XP_054177025.1  pregnancy-specific beta-1-glycoprotein 8 isoform X2

  2. XM_054321049.1 → XP_054177024.1  pregnancy-specific beta-1-glycoprotein 8 isoform X1

  3. XM_054321051.1 → XP_054177026.1  pregnancy-specific beta-1-glycoprotein 8 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UQ74.2 GenPept UniProtKB/Swiss-Prot:Q9UQ74

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