APCS amyloid P component, serum [Homo sapiens (human)] - Gene

Summary

Official Symbol: APCSprovided by HGNC
Official Full Name: amyloid P component, serumprovided by HGNC
Primary source: HGNC:HGNC:584
See related: Ensembl:ENSG00000132703 MIM:104770; AllianceGenome:HGNC:584
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: SAP; PTX2; HEL-S-92n
Summary: The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008]
Expression: Restricted expression toward liver (RPKM 651.4) See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (159587826..159588865)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (158724891..158725930)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (159557616..159558655)

Chromosome 1 - NC_000001.11 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
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?

SAP deficiency aggravates periodontitis possibly via C5a-C5aR signaling-mediated defective macrophage phagocytosis of Porphyromonas gingivalis.
Title: SAP deficiency aggravates periodontitis possibly via C5a-C5aR signaling-mediated defective macrophage phagocytosis of Porphyromonas gingivalis.
Local Pentraxin-2 Deficit Is a Feature of Intestinal Fibrosis in Crohn's Disease.
Title: Local Pentraxin-2 Deficit Is a Feature of Intestinal Fibrosis in Crohn's Disease.
Proteomic-based identification of APCS as candidate protein for diagnosis of patients exhibiting anti-tubercular drug induced liver injury.
Title: Proteomic-based identification of APCS as candidate protein for diagnosis of patients exhibiting anti-tubercular drug induced liver injury.
Macrophages pretreated with SAP displayed reduced fungal phagocytosis, reduced secretion of inflammatory cytokines (IFN-gamma, IL-6, and TNF-alpha), and increased secretion of the anti-inflammatory cytokine IL-10.
Title: Serum Amyloid P Component Binds Fungal Surface Amyloid and Decreases Human Macrophage Phagocytosis and Secretion of Inflammatory Cytokines.
Antiamyloidogenic and proamyloidogenic chaperone effects of C-reactive protein and serum amyloid P component.
Title: Antiamyloidogenic and proamyloidogenic chaperone effects of C-reactive protein and serum amyloid P component.
The findings suggest that the F57I mutation affects the aggregation process of lysozyme resulting in the formation of cytotoxic species and that SAP is able to prevent cell death in the F57I flies by preventing accumulation of toxic F57I structures.
Title: Serum Amyloid P Component Ameliorates Neurological Damage Caused by Expressing a Lysozyme Variant in the Central Nervous System of Drosophila melanogaster.
Data suggest that SAP (serum amyloid P-component) interacts with at least 33 proteins/ligands in plasma containing physiological calcium levels; these ligands can be categorized to include apolipoproteins, complement system proteins, coagulation proteins, and components that regulate proteolysis.
Title: Serum Amyloid P Component (SAP) Interactome in Human Plasma Containing Physiological Calcium Levels.
Data suggest that serum haptoglobin, fetuin-A, platelet factor-4, hs-CRP (high sensitive-C-reactive protein), SAP (serum amyloid P), AGP (alpha1-acid glycoprotein) levels of adolescents with metabolic syndrome are significantly higher than those of controls subjects.
Title: Investigation of the inflammatory biomarkers of metabolic syndrome in adolescents.
SNPs in APCS were associated with late age at onset in familial amyloid polyneuropathy.
Title: Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M).
Data suggest that serum amyloid P (SAP) activates CD209 DC-SIGN to regulate the innate immune system differently from C-reactive protein (CRP), and that DC-SIGN is a target for antifibrotics.
Title: DC-SIGN activation mediates the differential effects of SAP and CRP on the innate immune system and inhibits fibrosis in mice.

Submit: New GeneRIF Correction See all GeneRIFs (57)

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

EBI GWAS Catalog

Description
Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D1S2412 (e-PCR)
- UniSTS:77871

RH11639 (e-PCR)
- UniSTS:3652

RH93185 (e-PCR)
- UniSTS:88654

D1S3199 (e-PCR)
- UniSTS:79493

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables complement component C1q complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables complement component C1q complex binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	TAS Traceable Author Statement more info	PubMed
enables virion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in acute-phase response	TAS Traceable Author Statement more info	PubMed
involved_in chaperone-mediated protein complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation by host of viral exo-alpha-sialidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation by host of viral glycoprotein metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of acute inflammatory response	IC Inferred by Curator more info	PubMed
involved_in negative regulation of exo-alpha-sialidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of glycoprotein metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of monocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of viral entry into host cell	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of viral process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of wound healing	IC Inferred by Curator more info	PubMed
involved_in protein folding	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: serum amyloid P-component

Names: 9.5S alpha-1-glycoprotein; epididymis secretory sperm binding protein Li 92n; pentaxin-related; pentraxin-2; pentraxin-related

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.