PSG3 pregnancy specific beta-1-glycoprotein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSG3provided by HGNC
Official Full Name: pregnancy specific beta-1-glycoprotein 3provided by HGNC
Primary source: HGNC:HGNC:9520
See related: Ensembl:ENSG00000221826 MIM:176392; AllianceGenome:HGNC:9520
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
Summary: The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
Expression: Restricted expression toward placenta (RPKM 164.7) See more
Orthologs: all
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Genomic context

Location:: 19q13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (42721642..42740481, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (45540609..45559440, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (43225794..43244633, 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?

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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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Markers

GDB:374810 (e-PCR)
- UniSTS:156968

STS-T95748 (e-PCR)
- UniSTS:12089

D19S1094 (e-PCR)
- UniSTS:4169

WI-17469 (e-PCR)
- UniSTS:51573

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 defense response	TAS Traceable Author Statement more info	PubMed
involved_in female pregnancy	TAS 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	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 3

Names: PS-beta-G-3; PSBG-3; carcinoembryonic antigen SG5; pregnancy-specific glycoprotein 3

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_021016.4 → NP_066296.2 pregnancy-specific beta-1-glycoprotein 3 precursor

See identical proteins and their annotated locations for NP_066296.2

Status: VALIDATED

Source sequence(s)

BG620196, DA833589, M93061

Consensus CDS

CCDS12611.1

UniProtKB/Swiss-Prot

Q08265, Q16557, Q9BRW2, Q9UPL4, Q9UQ77

UniProtKB/TrEMBL

Q96QL5

Related

ENSP00000332215.5, ENST00000327495.10

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 → 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

42721642..42740481 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527127.3 → XP_011525429.1 pregnancy-specific beta-1-glycoprotein 3 isoform X2

Conserved Domains (3) summary

cd05774
Location:58 → 160

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

smart00410
Location:100 → 143

IG_like; Immunoglobulin like

cl11960
Location:170 → 258

Ig; Immunoglobulin domain
XM_011527126.3 → XP_011525428.1 pregnancy-specific beta-1-glycoprotein 3 isoform X1

UniProtKB/TrEMBL

Q9UPK9

Conserved Domains (4) summary

cd05774
Location:58 → 160

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

smart00410
Location:268 → 342

IG_like; Immunoglobulin like

pfam13895
Location:264 → 342

Ig_2; Immunoglobulin domain

cl11960
Location:170 → 258

Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

45540609..45559440 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321488.1 → XP_054177463.1 pregnancy-specific beta-1-glycoprotein 3 isoform X2
XM_054321487.1 → XP_054177462.1 pregnancy-specific beta-1-glycoprotein 3 isoform X1