C1QA (complement C1q A chain)

Gene

• Entrez ID: 712
• Gene name: Complement C1q A chain
• Gene symbol: C1QA
• Synonyms: C1QD1
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34139950	G>A	Pathogenic	Stop gained, coding sequence variant
rs121909581	C>T	Pathogenic	Stop gained, coding sequence variant
rs1570073403	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017487	hsa-miR-335-5p	Microarray	18185580
MIRT842126	hsa-miR-1275	CLIP-seq
MIRT842127	hsa-miR-1293	CLIP-seq
MIRT842128	hsa-miR-3667-3p	CLIP-seq
MIRT842129	hsa-miR-4292	CLIP-seq
MIRT842130	hsa-miR-4308	CLIP-seq
MIRT842131	hsa-miR-4447	CLIP-seq
MIRT842132	hsa-miR-4472	CLIP-seq
MIRT842133	hsa-miR-4483	CLIP-seq
MIRT842134	hsa-miR-4525	CLIP-seq
MIRT842135	hsa-miR-4665-5p	CLIP-seq
MIRT842136	hsa-miR-4723-5p	CLIP-seq
MIRT842137	hsa-miR-4728-5p	CLIP-seq
MIRT842138	hsa-miR-615-5p	CLIP-seq
MIRT842139	hsa-miR-625	CLIP-seq
MIRT842140	hsa-miR-670	CLIP-seq
MIRT2187634	hsa-miR-2278	CLIP-seq
MIRT2187635	hsa-miR-4676-5p	CLIP-seq
MIRT2187636	hsa-miR-486-3p	CLIP-seq
MIRT2187637	hsa-miR-575	CLIP-seq
MIRT2187638	hsa-miR-592	CLIP-seq
MIRT2187639	hsa-miR-597	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	TAS	15269255
GO:0001774	Process	Microglial cell activation	ISS
GO:0005515	Function	Protein binding	IPI	7240, 12960167, 21054788, 21988832, 28018340, 28325905, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005602	Component	Complement component C1 complex	TAS	9461517
GO:0006956	Process	Complement activation	TAS
GO:0006958	Process	Complement activation, classical pathway	TAS
GO:0007267	Process	Cell-cell signaling	TAS	9461517
GO:0007568	Process	Aging	ISS
GO:0010039	Process	Response to iron ion	IEA
GO:0016032	Process	Viral process	IEA
GO:0016322	Process	Neuron remodeling	ISS
GO:0030449	Process	Regulation of complement activation	TAS
GO:0045087	Process	Innate immune response	IEA
GO:0045202	Component	Synapse	ISS
GO:0048143	Process	Astrocyte activation	ISS
GO:0050808	Process	Synapse organization	ISS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28675934
GO:0098794	Component	Postsynapse	ISS
GO:0098883	Process	Synapse pruning	ISS
GO:0150062	Process	Complement-mediated synapse pruning	ISS
GO:0150064	Process	Vertebrate eye-specific patterning	ISS
GO:1901216	Process	Positive regulation of neuron death	ISS

Other IDs

• MIM: 120550
• HGNC: 1241
• e!Ensembl: ENSG00000173372

Protein

• UniProt ID: P02745
• Protein name: Complement C1q subcomponent subunit A
• Protein function: Core component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the ada
• PDB: 1PK6, 2JG8, 2JG9, 2WNU, 2WNV, 5HKJ, 5HZF, 6FCZ, 6Z6V, 9C9L, 9C9U
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	59 → 112	Collagen triple helix repeat (20 copies)	Repeat
  PF00386	C1q	116 → 241	C1q domain	Domain

• Sequence:

  MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIR
  TGIQGLKGDQGEPGPSGNPGKVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAI
  RRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYYFTFQVLSQWEICLSIVSSSR
  GQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVEKDPKKGHIYQGSEADSVFSGFL
  IFPSA

• Sequence length: 245

Pathways

KEGG:

Efferocytosis
Complement and coagulation cascades
Alcoholic liver disease
Prion disease
Pertussis
Chagas disease
Staphylococcus aureus infection
Coronavirus disease - COVID-19
Systemic lupus erythematosus

Reactome:

Initial triggering of complement
Classical antibody-mediated complement activation
Regulation of Complement cascade

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
C1q deficiency	C1q DEFICIENCY	rs377549148, rs200206736, rs121909581, rs34139950, rs34813378, rs1570073403	28601358
Complement component deficiency	Complement deficiency disease	rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814	28601358
Glomerulonephritis	IGA Glomerulonephritis, Glomerulonephritis, Membranoproliferative	rs778043831	8840296, 25133636, 8840296
Immunodeficiency	Immunodeficiency due to a classical component pathway complement deficiency	rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866, rs483352928, rs121918659, rs111033580, rs111033581, rs74315290, rs193922740, rs193922741, rs104894199, rs483352927, rs104894286, rs1571865049, rs886041032, rs2069709, rs587776822, rs74315444, rs587776823, rs1315265916, rs104893893, rs104893894, rs121434560, rs387906572, rs587776853, rs104893973, rs587776854, rs587776855, rs587776857, rs104893974, rs121912715, rs1393707607, rs113994136, rs387906593, rs587776870, rs387906763, rs387906913, rs199469663, rs199469662, rs199469664, rs193922640, rs193922641, rs193922645, rs398122890, rs387907316, rs397514710, rs398122383, rs397515453, rs397514332, rs398123058, rs397518423, rs587777075, rs199676861, rs77563738, rs587777337, rs28730670, rs587777389, rs587777390, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs587778405, rs587777446, rs587777562, rs587777564, rs587777565, rs869320745, rs587777709, rs606231305, rs672601318, rs727503779, rs727503780, rs730880296, rs786200953, rs375323253, rs794729666, rs886041037, rs886041038, rs796051887, rs796051888, rs749956849, rs199641706, rs775739391, rs869312886, rs869312857, rs879253731, rs879253732, rs201025290, rs770927552, rs878853275, rs878853276, rs878853277, rs878853278, rs1567506566, rs886037920, rs886037921, rs750610248, rs200044623, rs886043118, rs886060531, rs1057519074, rs1057519075, rs1057518744, rs1057519079, rs1057518745, rs1057518746, rs1057518747, rs782178147, rs55729925, rs1064795762, rs1064794957, rs1085307649, rs745463649, rs773694113, rs1192554889, rs779575307, rs1554051075, rs1554051067, rs1554051033, rs1554067182, rs1555167566, rs1555169270, rs1555908409, rs1555719963, rs1554064929, rs768091235, rs1404084330, rs144104577, rs1553238837, rs1553243550, rs1554020278, rs1554066684, rs762678772, rs570768621, rs1443126481, rs1553721236, rs121434258, rs888230251, rs1759915032, rs1759514836, rs138156467, rs1560914625, rs755373718, rs1561423197, rs1560938296, rs200803157, rs766555082, rs201543770, rs114951157, rs775578531, rs201128237, rs778624945, rs1563340753, rs1561772403, rs1484948342, rs777878144, rs1562364898, rs1561254290, rs1569296295, rs1568815169, rs1568822574, rs1571880832, rs934523851, rs1922072844, rs1266114717, rs137869655, rs869320689, rs1571880941, rs1580875488, rs1581303476, rs1448018291, rs1390410878, rs774803573, rs1591278347, rs1602300615, rs1601340933, rs757598952, rs1181595292, rs1408683294, rs1595843113, rs1595848141, rs779560450, rs1595816926, rs1601861196, rs1601861199, rs756541321, rs1594389703, rs1594390415, rs1581401865, rs1236009877, rs753213766, rs778993919, rs1602878106, rs141698985, rs1264504989, rs1580974401, rs2093571190, rs530286781, rs2086875746, rs2089298923, rs1206185362, rs1581573705, rs1596718225, rs1004337827, rs1573613529, rs1574636674, rs1574657735, rs1574657762, rs1574672718, rs1581573640, rs1553657429, rs200666300, rs1578735747, rs1578771211, rs1578793312, rs1578795536, rs1578809101, rs1578811073, rs1578811245, rs1171694504, rs1578971328, rs140800288, rs374333820, rs1584926133, rs1585040113, rs1584409386, rs1379376784, rs1586940273, rs1587143342, rs748910652, rs1592117677, rs758555433, rs1596712783, rs34019455, rs147766868, rs751386365, rs1600631294, rs1489114116, rs1057520578, rs1603007888, rs1603008329, rs1574450161, rs1578735709, rs1403833564, rs1580262965, rs570910902, rs1589866171, rs1578999313, rs1582635229, rs1582637044, rs1580851910, rs1750760771, rs745453685, rs1249197356, rs201840561, rs1940921909, rs1941410085, rs1941465194, rs1321690789, rs1302362911, rs1730552437, rs2052705192, rs1941856970
Nephrotic syndrome	Nephrotic Syndrome, Membranoproliferative Glomerulonephritis, Type I, Membranoproliferative Glomerulonephritis, Type II, Membranoproliferative Glomerulonephritis, Type III	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391	8840296
Renal insufficiency	Renal Insufficiency	rs1596536873
Systemic lupus erythematosus	SYSTEMIC LUPUS ERYTHEMATOSUS 16, Autosomal systemic lupus erythematosus	rs77571059, rs10954213, rs2070197, rs72556554, rs3219018, rs121912990, rs1575496354, rs7574865, rs1307379746, rs758750492, rs1575497576	15032584

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Immune complex diseases	Immune Complex Diseases		8840296
Impaired cognition	Impaired cognition
Language disorders	Language Disorders
Lupus anticoagulant	Lupus anticoagulant disorder
Lupus erythematosus	Lupus Erythematosus, Discoid, Lupus Erythematosus, Systemic		8840296
Lymphopenia	Lymphopenia
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia
Myositis	Myositis
Nephritis	Nephritis
Nonbacterial verrucal endocardiosis	Libman-Sacks Disease		8840296
Oral ulcer	Oral Ulcer
Pericardial effusion	Pericardial effusion
Pleural effusion	Pleural effusion disorder
Psychosis	Psychotic Disorders
Raynaud phenomenon	Raynaud Phenomenon