APCS (amyloid P component, serum)

Gene

• Entrez ID: 325
• Gene name: Amyloid P component, serum
• Gene symbol: APCS
• Synonyms (NCBI Gene): HEL-S-92n, PTX2, SAP
• Chromosome: 1
• Chromosome location: 1q23.2
• 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 dupli

Transcription factors

Transcription factor	Regulation	Reference
TP53	Activation	15378026

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001849	Function	Complement component C1q complex binding	IBA	21873635
GO:0001849	Function	Complement component C1q complex binding	IDA	23544079
GO:0002674	Process	Negative regulation of acute inflammatory response	IC	14607961
GO:0005509	Function	Calcium ion binding	IDA	23544079
GO:0005515	Function	Protein binding	IPI	22396542, 32296183, 32814053
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	14607961, 23544079
GO:0005634	Component	Nucleus	HDA	21630459
GO:0006457	Process	Protein folding	TAS	10812074
GO:0006953	Process	Acute-phase response	TAS	2987268
GO:0006958	Process	Complement activation, classical pathway	IBA	21873635
GO:0030169	Function	Low-density lipoprotein particle binding	IBA	21873635
GO:0030246	Function	Carbohydrate binding	IEA
GO:0042802	Function	Identical protein binding	IPI	19372378, 22396542, 23850452
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0044793	Process	Negative regulation by host of viral process	IBA	21873635
GO:0044869	Process	Negative regulation by host of viral exo-alpha-sialidase activity	IDA	23544079
GO:0044871	Process	Negative regulation by host of viral glycoprotein metabolic process	IDA	23544079
GO:0045087	Process	Innate immune response	IBA	21873635
GO:0045087	Process	Innate immune response	IDA	23544079
GO:0045656	Process	Negative regulation of monocyte differentiation	IDA	14607961
GO:0046597	Process	Negative regulation of viral entry into host cell	IDA	23544079
GO:0046790	Function	Virion binding	IDA	23544079
GO:0048525	Process	Negative regulation of viral process	IDA	23544079
GO:0051082	Function	Unfolded protein binding	TAS	10812074
GO:0051131	Process	Chaperone-mediated protein complex assembly	TAS	10972085
GO:0061045	Process	Negative regulation of wound healing	IC	14607961
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	27559042
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:1903016	Process	Negative regulation of exo-alpha-sialidase activity	IDA	23544079
GO:1903019	Process	Negative regulation of glycoprotein metabolic process	IDA	23544079

Other IDs

• MIM: 104770
• HGNC: 584
• e!Ensembl: ENSG00000132703

Protein

• UniProt ID: P02743
• Protein name: Serum amyloid P-component (SAP) (9.5S alpha-1-glycoprotein) [Cleaved into: Serum amyloid P-component(1-203)]
• Protein function: Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin.
• PDB: 1GYK, 1LGN, 1SAC, 2A3W, 2A3X, 2A3Y, 2W08, 3D5O, 3KQR, 4AVS, 4AVT, 4AVV, 4AYU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00354	Pentaxin	26 → 219	Pentaxin family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in serum and urine. {ECO:0000269|PubMed:15174148}.
• Sequence:

  MNKPLLWISVLTSLLEAFAHTDLSGKVFVFPRESVTDHVNLITPLEKPLQNFTLCFRAYS
  DLSRAYSLFSYNTQGRDNELLVYKERVGEYSLYIGRHKVTSKVIEKFPAPVHICVSWESS
  SGIAEFWINGTPLVKKGLRQGYFVEAQPKIVLGQEQDSYGGKFDRSQSFVGEIGDLYMWD
  SVLPPENILSAYQGTPLPANILDWQALNYEIRGYVIIKPLVWV

• Sequence length: 223

Pathways

Reactome:

Amyloid fiber formation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	12714198

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure		16129801	ClinVar
Heart failure	Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided		16129801	ClinVar
Myocardial infarction	Myocardial Failure		16129801	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	22155582, 36209425
Alkaptonuria	Associate	22850426
Alzheimer Disease	Associate	29860944, 30862745
Amyloidosis	Associate	22850426
Arthritis Rheumatoid	Associate	34458379
Asthma	Associate	35757752
Atherosclerosis	Associate	20189569
Autism Spectrum Disorder	Associate	31254375
Candidiasis Invasive	Associate	30862745
Cardiovascular Diseases	Associate	20189569
Cerebral Amyloid Angiopathy	Associate	29860944
Colorectal Neoplasms	Associate	22509309
Diabetes Mellitus Type 2	Stimulate	38256230
Down Syndrome	Associate	22678011
Granulomatosis with Polyangiitis	Stimulate	35757752
HIV Infections	Associate	26208400
Infections	Associate	35197508
Inflammation	Associate	16543402, 35197508
Inflammation	Inhibit	30862745
Leukemia	Associate	29202702
Liver Cirrhosis	Associate	35797333
Lupus Erythematosus Systemic	Associate	12472678, 14645206, 2794863
Lymphoma	Associate	23165210
Lymphoproliferative Disorders	Associate	23165210
Multiple Myeloma	Associate	1673879
Mycoses	Associate	30862745
Nephritis	Associate	12472678
Nerve Degeneration	Stimulate	26208400
Neurocognitive Disorders	Associate	26208400
Polycystic Ovary Syndrome	Associate	38256230
Thyroid Neoplasms	Associate	37223105