C1QA (complement C1q A chain) - Rat Genome Database
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Gene: C1QA (complement C1q A chain) Homo sapiens
Analyze
Symbol: C1QA
Name: complement C1q A chain
RGD ID: 1315493
HGNC Page HGNC
Description: Predicted to have amyloid-beta binding activity. Predicted to be involved in several processes, including complement-mediated synapse pruning; glial cell activation; and nervous system development. Localizes to collagen-containing extracellular matrix. Implicated in glomerulonephritis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: complement C1q chain A; complement C1q subcomponent subunit A; complement component 1, q subcomponent, A chain; complement component 1, q subcomponent, alpha polypeptide; complement component C1q, A chain
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl122,636,628 - 22,639,678 (+)EnsemblGRCh38hg38GRCh38
GRCh38122,636,463 - 22,639,678 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37122,963,118 - 22,966,175 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,835,705 - 22,838,762 (+)NCBINCBI36hg18NCBI36
Build 34122,709,405 - 22,711,405NCBI
Celera121,287,826 - 21,290,883 (+)NCBI
Cytogenetic Map1p36.12NCBI
HuRef121,207,463 - 21,210,520 (+)NCBIHuRef
CHM1_1123,075,637 - 23,078,694 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
amitriptyline  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (ISO)
astaxanthin  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
cannabidiol  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
cisplatin  (ISO)
coenzyme Q10  (ISO)
curcumin  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doramapimod  (ISO)
doxorubicin  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fumonisin B1  (ISO)
genistein  (ISO)
gentamycin  (ISO)
heptachlor  (ISO)
indoles  (ISO)
ketamine  (ISO)
lansoprazole  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
lycopene  (ISO)
medroxyprogesterone acetate  (EXP)
mercaptopurine  (ISO)
methcathinone  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (EXP)
nimesulide  (ISO)
O-acetyl-L-carnitine  (ISO)
omeprazole  (ISO)
paclitaxel  (ISO)
pantoprazole  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
purine-6-thiol  (ISO)
rabeprazole  (ISO)
resveratrol  (ISO)
silicon dioxide  (ISO)
sirolimus  (ISO)
sodium dichromate  (ISO)
Soman  (ISO)
streptozocin  (ISO)
tacrolimus hydrate  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trimellitic anhydride  (ISO)
trimethyltin  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7240   PMID:486087   PMID:814163   PMID:1249422   PMID:1431141   PMID:1537612   PMID:1706597   PMID:1744579   PMID:1875953   PMID:2372546   PMID:6981115   PMID:6981411  
PMID:7507842   PMID:7642209   PMID:7739575   PMID:7939135   PMID:8172568   PMID:8195709   PMID:8245486   PMID:8252810   PMID:8417122   PMID:8778019   PMID:9013976   PMID:9052718  
PMID:9184145   PMID:9223728   PMID:9225968   PMID:9443108   PMID:9444979   PMID:9461517   PMID:9476117   PMID:9777412   PMID:9780209   PMID:10490997   PMID:10504397   PMID:10528211  
PMID:10878362   PMID:11318594   PMID:11714829   PMID:12396016   PMID:12477932   PMID:12630757   PMID:12645945   PMID:12847249   PMID:12960167   PMID:15034050   PMID:15174051   PMID:15231748  
PMID:15269255   PMID:15489334   PMID:15878871   PMID:16046396   PMID:16335952   PMID:16465510   PMID:16566583   PMID:16710414   PMID:17207965   PMID:17213182   PMID:17929239   PMID:18029348  
PMID:18054386   PMID:18174230   PMID:18406463   PMID:18504288   PMID:18505047   PMID:18927313   PMID:19423540   PMID:19440201   PMID:19484134   PMID:19493541   PMID:19656971   PMID:19896716  
PMID:19913121   PMID:20008834   PMID:20139276   PMID:20237496   PMID:20332777   PMID:20406964   PMID:20438785   PMID:20496011   PMID:20528885   PMID:20560256   PMID:20628086   PMID:21054788  
PMID:21134100   PMID:21159384   PMID:21256764   PMID:21343881   PMID:21382349   PMID:21429584   PMID:21862594   PMID:21951915   PMID:21968398   PMID:21988832   PMID:22236909   PMID:22260551  
PMID:22321011   PMID:22356764   PMID:22472776   PMID:22700724   PMID:22740328   PMID:22879587   PMID:23080069   PMID:23086952   PMID:23376485   PMID:23607884   PMID:23650384   PMID:23720782  
PMID:23991234   PMID:24053688   PMID:24331529   PMID:24395916   PMID:24557008   PMID:24591625   PMID:24647646   PMID:24739385   PMID:24747831   PMID:25184227   PMID:25301945   PMID:25464930  
PMID:25487697   PMID:25491308   PMID:25817358   PMID:26095468   PMID:26175731   PMID:26410546   PMID:26465331   PMID:26563161   PMID:26829984   PMID:26831747   PMID:27085202   PMID:27267200  
PMID:27333900   PMID:27573737   PMID:27630215   PMID:27648858   PMID:27687635   PMID:27698012   PMID:27731323   PMID:28018340   PMID:28225862   PMID:28325905   PMID:28601358   PMID:28675934  
PMID:28687659   PMID:29559654   PMID:30405622   PMID:30427941   PMID:30628497   PMID:30926239   PMID:31019999   PMID:31028070   PMID:31112138   PMID:31164356   PMID:31315998   PMID:31541546  
PMID:32139604   PMID:32296183   PMID:32556499  


Genomics

Comparative Map Data
C1QA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl122,636,628 - 22,639,678 (+)EnsemblGRCh38hg38GRCh38
GRCh38122,636,463 - 22,639,678 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37122,963,118 - 22,966,175 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,835,705 - 22,838,762 (+)NCBINCBI36hg18NCBI36
Build 34122,709,405 - 22,711,405NCBI
Celera121,287,826 - 21,290,883 (+)NCBI
Cytogenetic Map1p36.12NCBI
HuRef121,207,463 - 21,210,520 (+)NCBIHuRef
CHM1_1123,075,637 - 23,078,694 (+)NCBICHM1_1
C1qa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394136,623,227 - 136,626,155 (-)NCBIGRCm39mm39
GRCm384136,895,916 - 136,898,844 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4136,895,917 - 136,898,803 (-)EnsemblGRCm38mm10GRCm38
MGSCv374136,451,831 - 136,454,759 (-)NCBIGRCm37mm9NCBIm37
MGSCv364136,167,994 - 136,170,836 (-)NCBImm8
Celera4135,103,233 - 135,106,157 (-)NCBICelera
Cytogenetic Map4D3NCBI
cM Map469.05NCBI
C1qa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.05155,261,254 - 155,264,101 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5155,261,250 - 155,264,143 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05159,023,753 - 159,026,600 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45155,662,333 - 155,665,180 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15155,672,371 - 155,675,219 (-)NCBI
Celera5147,531,382 - 147,534,229 (-)NCBICelera
Cytogenetic Map5q36NCBI
C1qa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554522,752,970 - 2,756,488 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554522,753,362 - 2,756,220 (+)NCBIChiLan1.0ChiLan1.0
C1QA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1122,770,557 - 22,773,682 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0121,821,927 - 21,825,020 (+)NCBIMhudiblu_PPA_v0panPan3
C1QA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl276,668,217 - 76,670,977 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1276,668,086 - 76,671,082 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
C1qa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364748,007,953 - 8,010,591 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C1QA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl680,586,280 - 80,589,939 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1680,586,259 - 80,589,213 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2674,610,025 - 74,612,855 (+)NCBISscrofa10.2Sscrofa10.2susScr3
C1QA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120110,024,847 - 110,027,868 (-)NCBI
C1qa
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247647,363,615 - 7,366,408 (+)NCBI

Position Markers
D1S3273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,965,955 - 22,966,085UniSTSGRCh37
Build 36122,838,542 - 22,838,672RGDNCBI36
Celera121,290,663 - 21,290,793RGD
Cytogenetic Map1p36.12UniSTS
HuRef121,210,300 - 21,210,430UniSTS
TNG Radiation Hybrid Map19011.0UniSTS
Stanford-G3 RH Map11002.0UniSTS
GeneMap99-G3 RH Map11272.0UniSTS
WI-8760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,965,877 - 22,965,984UniSTSGRCh37
Build 36122,838,464 - 22,838,571RGDNCBI36
Celera121,290,585 - 21,290,692RGD
Cytogenetic Map1p36.12UniSTS
HuRef121,210,222 - 21,210,329UniSTS
GeneMap99-GB4 RH Map179.87UniSTS
Whitehead-RH Map176.6UniSTS
C1QA_66  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,965,375 - 22,966,181UniSTSGRCh37
Build 36122,837,962 - 22,838,768RGDNCBI36
Celera121,290,083 - 21,290,889RGD
HuRef121,209,720 - 21,210,526UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:988
Count of miRNA genes:439
Interacting mature miRNAs:488
Transcripts:ENST00000374642, ENST00000402322, ENST00000438241
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 5 6 3 193 3 5 1 4 9 33 28 13
Medium 2262 2574 1514 488 952 339 3112 1346 2426 329 1029 1293 149 1188 2003 2
Low 49 400 174 114 188 101 979 792 1214 38 293 70 14 1 3 785 1 1
Below cutoff 10 1 3 59 91 5 6 4 18 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA985480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF135157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF260332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY789471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG548439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI837739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM920911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX369252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT215188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374642   ⟹   ENSP00000363773
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,636,628 - 22,639,678 (+)Ensembl
RefSeq Acc Id: ENST00000402322   ⟹   ENSP00000385564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,637,580 - 22,639,608 (+)Ensembl
RefSeq Acc Id: ENST00000438241   ⟹   ENSP00000416841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl122,636,762 - 22,639,331 (+)Ensembl
RefSeq Acc Id: NM_001347465   ⟹   NP_001334394
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,636,628 - 22,639,678 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347466   ⟹   NP_001334395
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,636,463 - 22,639,678 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015991   ⟹   NP_057075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,636,628 - 22,639,678 (+)NCBI
GRCh37122,963,118 - 22,966,175 (+)ENTREZGENE
Build 36122,835,705 - 22,838,762 (+)NCBI Archive
HuRef121,207,463 - 21,210,520 (+)ENTREZGENE
CHM1_1123,075,637 - 23,078,694 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057075   ⟸   NM_015991
- Peptide Label: precursor
- UniProtKB: P02745 (UniProtKB/Swiss-Prot),   A0A024RAG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334394   ⟸   NM_001347465
- Peptide Label: precursor
- UniProtKB: P02745 (UniProtKB/Swiss-Prot),   A0A024RAG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334395   ⟸   NM_001347466
- Peptide Label: precursor
- UniProtKB: P02745 (UniProtKB/Swiss-Prot),   A0A024RAG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000416841   ⟸   ENST00000438241
RefSeq Acc Id: ENSP00000363773   ⟸   ENST00000374642
RefSeq Acc Id: ENSP00000385564   ⟸   ENST00000402322
Protein Domains
C1q   Collagen-like

Promoters
RGD ID:6854442
Promoter ID:EPDNEW_H386
Type:initiation region
Name:C1QA_1
Description:complement C1q A chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,636,628 - 22,636,688EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015991.4(C1QA):c.622C>T (p.Gln208Ter) single nucleotide variant C1q deficiency [RCV000018602] Chr1:22639291 [GRCh38]
Chr1:22965784 [GRCh37]
Chr1:1p36.12
pathogenic
GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1 copy number loss See cases [RCV000138071] Chr1:21399130..22696747 [GRCh38]
Chr1:21725623..23023240 [GRCh37]
Chr1:21598210..22895827 [NCBI36]
Chr1:1p36.12
likely pathogenic|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
chr1:17555508-24706269 complex variant complex Ductal breast carcinoma [RCV000207266] Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11
uncertain significance
NM_015991.4(C1QA):c.605C>T (p.Ser202Leu) single nucleotide variant not provided [RCV000722224] Chr1:22639274 [GRCh38]
Chr1:22965767 [GRCh37]
Chr1:1p36.12
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_015991.4(C1QA):c.648G>A (p.Trp216Ter) single nucleotide variant C1q deficiency [RCV000508985] Chr1:22639317 [GRCh38]
Chr1:22965810 [GRCh37]
Chr1:1p36.12
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_015991.4(C1QA):c.67G>A (p.Glu23Lys) single nucleotide variant C1q deficiency [RCV000625107]|not provided [RCV000885716] Chr1:22637683 [GRCh38]
Chr1:22964176 [GRCh37]
Chr1:1p36.12
benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_015991.4(C1QA):c.474C>T (p.Tyr158=) single nucleotide variant not provided [RCV000983010] Chr1:22639143 [GRCh38]
Chr1:22965636 [GRCh37]
Chr1:1p36.12
likely benign
NM_015991.4(C1QA):c.735C>T (p.Ala245=) single nucleotide variant not provided [RCV000973273] Chr1:22639404 [GRCh38]
Chr1:22965897 [GRCh37]
Chr1:1p36.12
benign
NM_015991.4(C1QA):c.525C>T (p.Ile175=) single nucleotide variant not provided [RCV000972575] Chr1:22639194 [GRCh38]
Chr1:22965687 [GRCh37]
Chr1:1p36.12
benign
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp) single nucleotide variant C1q deficiency [RCV001028023]|not provided [RCV000788607] Chr1:22639139 [GRCh38]
Chr1:22965632 [GRCh37]
Chr1:1p36.12
likely pathogenic|uncertain significance
NM_015991.4(C1QA):c.376A>G (p.Met126Val) single nucleotide variant not provided [RCV000910824] Chr1:22639045 [GRCh38]
Chr1:22965538 [GRCh37]
Chr1:1p36.12
likely benign
GRCh37/hg19 1p36.12(chr1:22883477-22973340)x1 copy number loss not provided [RCV001005075] Chr1:22883477..22973340 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs) indel C1q deficiency [RCV001251118] Chr1:22638879 [GRCh38]
Chr1:22965372 [GRCh37]
Chr1:1p36.12
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1241 AgrOrtholog
COSMIC C1QA COSMIC
Ensembl Genes ENSG00000173372 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000363773 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385564 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000416841 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000374642 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000438241 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173372 GTEx
HGNC ID HGNC:1241 ENTREZGENE
Human Proteome Map C1QA Human Proteome Map
InterPro C1q_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement_C1q_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 712 ENTREZGENE
OMIM 120550 OMIM
  613652 OMIM
PANTHER PTHR15427:SF26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25622 PharmGKB
PRINTS COMPLEMNTC1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE C1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART C1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAG6 ENTREZGENE, UniProtKB/TrEMBL
  C1QA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  X6RLJ0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0A3B0J657 UniProtKB/TrEMBL
  B2R4X2 UniProtKB/Swiss-Prot
  Q5T963 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-12 C1QA  complement C1q A chain  C1QA  complement component 1, q subcomponent, A chain  Symbol and/or name change 5135510 APPROVED