GUCY1A1 (guanylate cyclase 1 soluble subunit alpha 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GUCY1A1 (guanylate cyclase 1 soluble subunit alpha 1) Homo sapiens
Analyze
Symbol: GUCY1A1
Name: guanylate cyclase 1 soluble subunit alpha 1
RGD ID: 68653
HGNC Page HGNC
Description: Enables guanylate cyclase activity. Involved in cGMP biosynthetic process. Part of guanylate cyclase complex, soluble. Implicated in Moyamoya disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GC-S-alpha-1; GC-SA3; GCS-alpha-1; GCS-alpha-3; guanylate cyclase 1 soluble subunit alpha; guanylate cyclase 1, soluble, alpha 3; guanylate cyclase soluble subunit alpha-1; guanylate cyclase soluble subunit alpha-3; GUC1A3; GUCA3; GUCSA3; GUCY1A3; MYMY6; RP11-588K22.2; soluble guanylate cyclase large subunit
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 Ensembl4155,666,726 - 155,737,059 (+)EnsemblGRCh38hg38GRCh38
GRCh384155,666,725 - 155,737,059 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374156,588,000 - 156,658,211 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364156,807,328 - 156,871,232 (+)NCBINCBI36hg18NCBI36
Build 344156,945,482 - 157,009,379NCBI
Celera4153,919,477 - 153,989,823 (+)NCBI
Cytogenetic Map4q32.1NCBI
HuRef4152,327,271 - 152,397,264 (+)NCBIHuRef
CHM1_14156,565,607 - 156,635,931 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3',5'-cyclic GMP  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
apocynin  (ISO)
aristolochic acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
chloroprene  (ISO)
cinaciguat  (EXP,ISO)
clobetasol  (ISO)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
crocidolite asbestos  (ISO)
cyanocob(III)alamin  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
diethyl malate  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
ferroheme b  (ISO)
folic acid  (EXP)
formaldehyde  (EXP)
glafenine  (ISO)
GTP  (EXP)
heme b  (ISO)
hydrogen peroxide  (ISO)
hydroxocobalamin  (EXP)
isoflavones  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
menadione  (ISO)
methylseleninic acid  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
nitric oxide  (EXP)
nitroglycerin  (ISO)
nitroprusside  (ISO)
NONOate(1-)  (EXP)
oxaliplatin  (ISO)
p-toluidine  (ISO)
panobinostat  (EXP)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
pioglitazone  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
potassium hexacyanoferrate(3-)  (EXP)
progesterone  (ISO)
protoporphyrin  (EXP)
S-nitrosoglutathione  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
Soman  (ISO)
taurine  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zinc protoporphyrin  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1352257   PMID:8097486   PMID:8613461   PMID:9742212   PMID:10717483   PMID:10828587   PMID:12107412   PMID:12477932   PMID:14702039   PMID:15201957   PMID:15381706   PMID:15489334  
PMID:16344560   PMID:18550612   PMID:19478201   PMID:20964618   PMID:21414799   PMID:21725643   PMID:21794866   PMID:21909110   PMID:21909115   PMID:21988832   PMID:22174378   PMID:22223482  
PMID:22690686   PMID:22751097   PMID:23505436   PMID:24236047   PMID:24581742   PMID:24666322   PMID:24725084   PMID:24733395   PMID:25249183   PMID:25373139   PMID:26777256   PMID:27342234  
PMID:28361875   PMID:28487391   PMID:28514442   PMID:28611215   PMID:28859127   PMID:28982690   PMID:29024896   PMID:30021884   PMID:30597209   PMID:30768153   PMID:31228190   PMID:31616026  
PMID:31645439   PMID:31883534   PMID:33430449   PMID:33571505   PMID:33961781   PMID:34535643  


Genomics

Comparative Map Data
GUCY1A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4155,666,726 - 155,737,059 (+)EnsemblGRCh38hg38GRCh38
GRCh384155,666,725 - 155,737,059 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374156,588,000 - 156,658,211 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364156,807,328 - 156,871,232 (+)NCBINCBI36hg18NCBI36
Build 344156,945,482 - 157,009,379NCBI
Celera4153,919,477 - 153,989,823 (+)NCBI
Cytogenetic Map4q32.1NCBI
HuRef4152,327,271 - 152,397,264 (+)NCBIHuRef
CHM1_14156,565,607 - 156,635,931 (+)NCBICHM1_1
Gucy1a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39381,999,734 - 82,053,253 (-)NCBIGRCm39mm39
GRCm39 Ensembl381,999,734 - 82,053,096 (-)Ensembl
GRCm38382,092,427 - 82,145,946 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl382,092,427 - 82,145,789 (-)EnsemblGRCm38mm10GRCm38
MGSCv37381,896,349 - 81,949,799 (-)NCBIGRCm37mm9NCBIm37
MGSCv36382,178,354 - 82,231,000 (-)NCBImm8
Celera382,117,270 - 82,170,809 (-)NCBICelera
Cytogenetic Map3E3NCBI
Gucy1a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22167,418,615 - 167,482,293 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2167,418,640 - 167,481,671 (-)Ensembl
Rnor_6.02181,045,694 - 181,103,321 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2181,045,703 - 181,102,918 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02200,453,480 - 200,515,219 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42173,756,824 - 173,818,316 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12173,705,122 - 173,768,506 (-)NCBI
Celera2161,450,514 - 161,511,622 (-)NCBICelera
Cytogenetic Map2q34NCBI
Gucy1a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547111,367,282 - 11,424,273 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547111,367,318 - 11,422,199 (-)NCBIChiLan1.0ChiLan1.0
GUCY1A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14159,850,092 - 159,920,159 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4159,850,107 - 159,913,338 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04148,032,167 - 148,102,757 (+)NCBIMhudiblu_PPA_v0panPan3
GUCY1A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11553,172,914 - 53,236,200 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1553,174,157 - 53,234,533 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1553,510,720 - 53,570,219 (+)NCBI
ROS_Cfam_1.01553,880,516 - 53,943,086 (+)NCBI
ROS_Cfam_1.0 Ensembl1553,881,077 - 53,942,856 (+)Ensembl
UMICH_Zoey_3.11553,134,895 - 53,194,847 (+)NCBI
UNSW_CanFamBas_1.01553,244,742 - 53,304,495 (+)NCBI
UU_Cfam_GSD_1.01553,557,797 - 53,618,055 (+)NCBI
Gucy1a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530137,135,116 - 37,192,728 (-)NCBI
SpeTri2.0NW_0049365762,353,874 - 2,411,747 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GUCY1A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl844,449,232 - 44,518,135 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1844,448,758 - 44,520,737 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2846,457,572 - 46,537,279 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GUCY1A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17102,206,438 - 102,310,535 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl7102,238,477 - 102,303,673 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603781,715,008 - 81,968,286 (+)NCBIVero_WHO_p1.0
Gucy1a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248482,522,935 - 2,588,758 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D4S3016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,603,795 - 156,603,997UniSTSGRCh37
Build 364156,823,245 - 156,823,447RGDNCBI36
Celera4153,935,409 - 153,935,611RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4152,342,993 - 152,343,196UniSTS
Marshfield Genetic Map4157.99RGD
Marshfield Genetic Map4157.99UniSTS
Genethon Genetic Map4157.9UniSTS
deCODE Assembly Map4150.65UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-67982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,651,354 - 156,651,515UniSTSGRCh37
Build 364156,870,804 - 156,870,965RGDNCBI36
Celera4153,982,963 - 153,983,124RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4152,390,408 - 152,390,569UniSTS
TNG Radiation Hybrid Map493813.0UniSTS
GeneMap99-GB4 RH Map4642.76UniSTS
NCBI RH Map41634.3UniSTS
WI-19855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,651,249 - 156,651,510UniSTSGRCh37
Build 364156,870,699 - 156,870,960RGDNCBI36
Celera4153,982,858 - 153,983,119RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4152,390,303 - 152,390,564UniSTS
GeneMap99-GB4 RH Map4642.76UniSTS
Whitehead-RH Map4696.6UniSTS
A006Q21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,653,238 - 156,653,380UniSTSGRCh37
Build 364156,872,688 - 156,872,830RGDNCBI36
Celera4153,984,847 - 153,984,989RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4152,392,289 - 152,392,431UniSTS
GeneMap99-GB4 RH Map4644.58UniSTS
NCBI RH Map41634.3UniSTS
WI-18619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,658,076 - 156,658,177UniSTSGRCh37
Build 364156,877,526 - 156,877,627RGDNCBI36
Celera4153,989,685 - 153,989,786RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4152,397,126 - 152,397,227UniSTS
GeneMap99-GB4 RH Map4642.76UniSTS
Whitehead-RH Map4696.6UniSTS
NCBI RH Map41634.3UniSTS
SHGC-67305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,656,254 - 156,656,435UniSTSGRCh37
Build 364156,875,704 - 156,875,885RGDNCBI36
Celera4153,987,863 - 153,988,044RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4152,395,304 - 152,395,485UniSTS
TNG Radiation Hybrid Map493817.0UniSTS
GeneMap99-GB4 RH Map4642.66UniSTS
SHGC-11990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,651,498 - 156,651,727UniSTSGRCh37
Build 364156,870,948 - 156,871,177RGDNCBI36
Celera4153,983,107 - 153,983,336RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4152,390,552 - 152,390,776UniSTS
SHGC-67697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,651,438 - 156,651,520UniSTSGRCh37
Build 364156,870,888 - 156,870,970RGDNCBI36
Celera4153,983,047 - 153,983,129RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4152,390,492 - 152,390,574UniSTS
GeneMap99-GB4 RH Map4645.09UniSTS
NCBI RH Map41628.3UniSTS
GUCY1A3_8391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,651,397 - 156,651,954UniSTSGRCh37
Build 364156,870,847 - 156,871,404RGDNCBI36
Celera4153,983,006 - 153,983,563RGD
HuRef4152,390,451 - 152,391,004UniSTS
RH16630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,656,941 - 156,657,128UniSTSGRCh37
Build 364156,876,391 - 156,876,578RGDNCBI36
Celera4153,988,550 - 153,988,737RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4152,395,991 - 152,396,178UniSTS
GeneMap99-GB4 RH Map4642.66UniSTS
SHGC-59801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374156,657,916 - 156,658,026UniSTSGRCh37
Build 364156,877,366 - 156,877,476RGDNCBI36
Celera4153,989,525 - 153,989,635RGD
Cytogenetic Map4q31.1-q31.2UniSTS
HuRef4152,396,966 - 152,397,076UniSTS
GeneMap99-GB4 RH Map4640.92UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3849
Count of miRNA genes:936
Interacting mature miRNAs:1116
Transcripts:ENST00000296518, ENST00000393832, ENST00000443668, ENST00000455639, ENST00000506455, ENST00000509901, ENST00000511108, ENST00000511507, ENST00000512983, ENST00000513574, ENST00000515201, ENST00000515602
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
Medium 1511 1507 317 41 328 27 1091 808 376 182 505 759 16 549 763 2
Low 808 848 1371 561 800 416 2982 1351 3288 225 818 735 153 1 655 2008 1 2
Below cutoff 31 626 24 13 685 13 182 27 57 8 90 56 1 17 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY034777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD671731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA518091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA793192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA908917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296518   ⟹   ENSP00000296518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,667,198 - 155,732,349 (+)Ensembl
RefSeq Acc Id: ENST00000393832   ⟹   ENSP00000377418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,667,129 - 155,732,345 (+)Ensembl
RefSeq Acc Id: ENST00000443668   ⟹   ENSP00000409903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,667,104 - 155,732,347 (+)Ensembl
RefSeq Acc Id: ENST00000455639   ⟹   ENSP00000412201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,666,963 - 155,730,416 (+)Ensembl
RefSeq Acc Id: ENST00000506455   ⟹   ENSP00000424361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,666,848 - 155,737,059 (+)Ensembl
RefSeq Acc Id: ENST00000509901   ⟹   ENSP00000424863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,667,042 - 155,730,445 (+)Ensembl
RefSeq Acc Id: ENST00000511108   ⟹   ENSP00000421493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,666,726 - 155,730,630 (+)Ensembl
RefSeq Acc Id: ENST00000511507   ⟹   ENSP00000426968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,666,848 - 155,722,569 (+)Ensembl
RefSeq Acc Id: ENST00000512983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,666,828 - 155,711,381 (+)Ensembl
RefSeq Acc Id: ENST00000513574   ⟹   ENSP00000426040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,667,663 - 155,730,432 (+)Ensembl
RefSeq Acc Id: ENST00000515201   ⟹   ENSP00000422141
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,667,338 - 155,730,442 (+)Ensembl
RefSeq Acc Id: ENST00000515602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,666,936 - 155,710,611 (+)Ensembl
RefSeq Acc Id: ENST00000621234   ⟹   ENSP00000479710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4155,666,726 - 155,730,622 (+)Ensembl
RefSeq Acc Id: NM_000856   ⟹   NP_000847
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
GRCh374156,587,862 - 156,658,214 (+)ENTREZGENE
Build 364156,807,328 - 156,871,232 (+)NCBI Archive
HuRef4152,327,271 - 152,397,264 (+)ENTREZGENE
CHM1_14156,565,607 - 156,635,931 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001130682   ⟹   NP_001124154
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
GRCh374156,587,862 - 156,658,214 (+)ENTREZGENE
HuRef4152,327,271 - 152,397,264 (+)ENTREZGENE
CHM1_14156,565,607 - 156,635,931 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001130683   ⟹   NP_001124155
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
GRCh374156,587,862 - 156,658,214 (+)ENTREZGENE
HuRef4152,327,271 - 152,397,264 (+)ENTREZGENE
CHM1_14156,565,894 - 156,635,931 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001130684   ⟹   NP_001124156
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,667,662 - 155,737,059 (+)NCBI
GRCh374156,587,862 - 156,658,214 (+)ENTREZGENE
HuRef4152,327,271 - 152,397,264 (+)ENTREZGENE
CHM1_14156,566,560 - 156,635,931 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001130685   ⟹   NP_001124157
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
GRCh374156,587,862 - 156,658,214 (+)ENTREZGENE
HuRef4152,327,271 - 152,397,264 (+)ENTREZGENE
CHM1_14156,565,894 - 156,635,931 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001130687   ⟹   NP_001124159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,723,470 (+)NCBI
GRCh374156,587,862 - 156,658,214 (+)ENTREZGENE
HuRef4152,327,271 - 152,397,264 (+)ENTREZGENE
CHM1_14156,565,607 - 156,621,442 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256449   ⟹   NP_001243378
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
HuRef4152,327,271 - 152,397,264 (+)NCBI
CHM1_14156,565,860 - 156,635,931 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379666   ⟹   NP_001366595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379667   ⟹   NP_001366596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379668   ⟹   NP_001366597
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379669   ⟹   NP_001366598
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379670   ⟹   NP_001366599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,667,662 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379671   ⟹   NP_001366600
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379672   ⟹   NP_001366601
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,667,662 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379673   ⟹   NP_001366602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379674   ⟹   NP_001366603
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,667,662 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379675   ⟹   NP_001366604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,667,662 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379676   ⟹   NP_001366605
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,737,059 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262956   ⟹   XP_005263013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,725 - 155,732,349 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262957   ⟹   XP_005263014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,725 - 155,732,349 (+)NCBI
GRCh374156,587,862 - 156,658,214 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531900   ⟹   XP_011530202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,667,077 - 155,732,349 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000847 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124154 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124155 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124156 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124157 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124159 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243378 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366595 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366596 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366597 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366598 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366599 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366600 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366601 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366602 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366603 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366604 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366605 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263013 (Get FASTA)   NCBI Sequence Viewer  
  XP_005263014 (Get FASTA)   NCBI Sequence Viewer  
  XP_011530202 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB94794 (Get FASTA)   NCBI Sequence Viewer  
  AAF64043 (Get FASTA)   NCBI Sequence Viewer  
  AAH12627 (Get FASTA)   NCBI Sequence Viewer  
  AAH28384 (Get FASTA)   NCBI Sequence Viewer  
  BAG53331 (Get FASTA)   NCBI Sequence Viewer  
  CAA47145 (Get FASTA)   NCBI Sequence Viewer  
  CAA75738 (Get FASTA)   NCBI Sequence Viewer  
  EAX04892 (Get FASTA)   NCBI Sequence Viewer  
  EAX04893 (Get FASTA)   NCBI Sequence Viewer  
  EAX04894 (Get FASTA)   NCBI Sequence Viewer  
  EAX04895 (Get FASTA)   NCBI Sequence Viewer  
  EAX04896 (Get FASTA)   NCBI Sequence Viewer  
  EAX04897 (Get FASTA)   NCBI Sequence Viewer  
  Q02108 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000847   ⟸   NM_000856
- Peptide Label: isoform A
- UniProtKB: Q02108 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124154   ⟸   NM_001130682
- Peptide Label: isoform A
- UniProtKB: Q02108 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124159   ⟸   NM_001130687
- Peptide Label: isoform D
- UniProtKB: Q02108 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124155   ⟸   NM_001130683
- Peptide Label: isoform A
- UniProtKB: Q02108 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001124157   ⟸   NM_001130685
- Peptide Label: isoform B
- Sequence:
RefSeq Acc Id: NP_001124156   ⟸   NM_001130684
- Peptide Label: isoform A
- UniProtKB: Q02108 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243378   ⟸   NM_001256449
- Peptide Label: isoform A
- UniProtKB: Q02108 (UniProtKB/Swiss-Prot),   B3KU69 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005263013   ⟸   XM_005262956
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005263014   ⟸   XM_005262957
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011530202   ⟸   XM_011531900
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001366598   ⟸   NM_001379669
- Peptide Label: isoform A
RefSeq Acc Id: NP_001366596   ⟸   NM_001379667
- Peptide Label: isoform A
RefSeq Acc Id: NP_001366602   ⟸   NM_001379673
- Peptide Label: isoform A
RefSeq Acc Id: NP_001366597   ⟸   NM_001379668
- Peptide Label: isoform A
RefSeq Acc Id: NP_001366600   ⟸   NM_001379671
- Peptide Label: isoform A
RefSeq Acc Id: NP_001366605   ⟸   NM_001379676
- Peptide Label: isoform F
RefSeq Acc Id: NP_001366595   ⟸   NM_001379666
- Peptide Label: isoform A
RefSeq Acc Id: NP_001366601   ⟸   NM_001379672
- Peptide Label: isoform A
RefSeq Acc Id: NP_001366604   ⟸   NM_001379675
- Peptide Label: isoform E
RefSeq Acc Id: NP_001366603   ⟸   NM_001379674
- Peptide Label: isoform A
RefSeq Acc Id: NP_001366599   ⟸   NM_001379670
- Peptide Label: isoform A
RefSeq Acc Id: ENSP00000479710   ⟸   ENST00000621234
RefSeq Acc Id: ENSP00000424361   ⟸   ENST00000506455
RefSeq Acc Id: ENSP00000296518   ⟸   ENST00000296518
RefSeq Acc Id: ENSP00000412201   ⟸   ENST00000455639
RefSeq Acc Id: ENSP00000424863   ⟸   ENST00000509901
RefSeq Acc Id: ENSP00000409903   ⟸   ENST00000443668
RefSeq Acc Id: ENSP00000426968   ⟸   ENST00000511507
RefSeq Acc Id: ENSP00000377418   ⟸   ENST00000393832
RefSeq Acc Id: ENSP00000421493   ⟸   ENST00000511108
RefSeq Acc Id: ENSP00000426040   ⟸   ENST00000513574
RefSeq Acc Id: ENSP00000422141   ⟸   ENST00000515201
Protein Domains
Guanylate cyclase

Promoters
RGD ID:6868728
Promoter ID:EPDNEW_H7529
Type:initiation region
Name:GUCY1A3_1
Description:guanylate cyclase 1 soluble subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7530  EPDNEW_H7531  EPDNEW_H7532  EPDNEW_H7533  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,666,848 - 155,666,908EPDNEW
RGD ID:6868730
Promoter ID:EPDNEW_H7530
Type:initiation region
Name:GUCY1A3_4
Description:guanylate cyclase 1 soluble subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7529  EPDNEW_H7531  EPDNEW_H7532  EPDNEW_H7533  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,667,104 - 155,667,164EPDNEW
RGD ID:6868732
Promoter ID:EPDNEW_H7531
Type:initiation region
Name:GUCY1A3_3
Description:guanylate cyclase 1 soluble subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7529  EPDNEW_H7530  EPDNEW_H7532  EPDNEW_H7533  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,667,338 - 155,667,398EPDNEW
RGD ID:6868734
Promoter ID:EPDNEW_H7532
Type:initiation region
Name:GUCY1A3_2
Description:guanylate cyclase 1 soluble subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7529  EPDNEW_H7530  EPDNEW_H7531  EPDNEW_H7533  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,667,662 - 155,667,722EPDNEW
RGD ID:6868736
Promoter ID:EPDNEW_H7533
Type:initiation region
Name:GUCY1A3_5
Description:guanylate cyclase 1 soluble subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7529  EPDNEW_H7530  EPDNEW_H7531  EPDNEW_H7532  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384155,667,807 - 155,667,867EPDNEW
RGD ID:6802225
Promoter ID:HG_KWN:49343
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   Lymphoblastoid
Transcripts:ENST00000357469,   NM_000856,   NM_001130682,   NM_001130683,   NM_001130684,   NM_001130685,   NM_001130686,   UC003IOX.1,   UC003IPA.1,   UC010IQC.1,   UC010IQD.1,   UC010IQE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364156,807,866 - 156,808,467 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q32.1(chr4:155605468-156026047)x1 copy number loss See cases [RCV000054075] Chr4:155605468..156026047 [GRCh38]
Chr4:156526620..156947199 [GRCh37]
Chr4:156746070..157166649 [NCBI36]
Chr4:4q32.1
uncertain significance
NM_000856.5(GUCY1A3):c.1540G>A (p.Asp514Asn) single nucleotide variant Malignant melanoma [RCV000060932] Chr4:155713551 [GRCh38]
Chr4:156634703 [GRCh37]
Chr4:156854153 [NCBI36]
Chr4:4q32.1
not provided
NM_001130682.3(GUCY1A1):c.1086+1G>A single nucleotide variant Moyamoya disease 6 with achalasia [RCV000114952] Chr4:155711252 [GRCh38]
Chr4:156632404 [GRCh37]
Chr4:4q32.1
pathogenic
NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter) single nucleotide variant Moyamoya disease 6 with achalasia [RCV000114953] Chr4:155711210 [GRCh38]
Chr4:156632362 [GRCh37]
Chr4:4q32.1
pathogenic
NM_001130682.3(GUCY1A1):c.1170del (p.Glu391fs) deletion Moyamoya disease 6 with achalasia [RCV000114954] Chr4:155713181 [GRCh38]
Chr4:156634333 [GRCh37]
Chr4:4q32.1
pathogenic
NM_000856.5(GUCY1A3):c.1871+2475C>T single nucleotide variant Lung cancer [RCV000094232] Chr4:155724667 [GRCh38]
Chr4:156645819 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_001130682.3(GUCY1A1):c.488dup (p.Leu163fs) duplication Myocardial infarction 1 [RCV000077777] Chr4:155710647..155710648 [GRCh38]
Chr4:156631799..156631800 [GRCh37]
Chr4:4q32.1
pathogenic
NM_001130682.3(GUCY1A1):c.69T>A (p.Gly23=) single nucleotide variant not provided [RCV000122471] Chr4:155696936 [GRCh38]
Chr4:156618088 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_001130682.3(GUCY1A1):c.1535G>A (p.Arg512His) single nucleotide variant Moyamoya disease 6 with achalasia [RCV001333576] Chr4:155713546 [GRCh38]
Chr4:156634698 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1
likely pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 copy number loss See cases [RCV000141861] Chr4:155162982..170959553 [GRCh38]
Chr4:156084134..171880704 [GRCh37]
Chr4:156303584..172117279 [NCBI36]
Chr4:4q32.1-33
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3 copy number gain See cases [RCV000143617] Chr4:152500649..155788803 [GRCh38]
Chr4:153421801..156709955 [GRCh37]
Chr4:153641251..156929405 [NCBI36]
Chr4:4q31.3-32.1
likely pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter) single nucleotide variant Moyamoya disease 6 with achalasia [RCV000677376] Chr4:155730112 [GRCh38]
Chr4:156651264 [GRCh37]
Chr4:4q32.1
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_001130682.3(GUCY1A1):c.1909C>T (p.Arg637Ter) single nucleotide variant not provided [RCV000413991] Chr4:155730067 [GRCh38]
Chr4:156651219 [GRCh37]
Chr4:4q32.1
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.1(chr4:156496866-156956631)x1 copy number loss See cases [RCV000448910] Chr4:156496866..156956631 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1 copy number loss not provided [RCV000682474] Chr4:154763131..158404825 [GRCh37]
Chr4:4q31.3-32.1
likely pathogenic
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr) single nucleotide variant Moyamoya disease 1 [RCV000755174]|Moyamoya disease 6 with achalasia [RCV000677374] Chr4:155713561 [GRCh38]
Chr4:156634713 [GRCh37]
Chr4:4q32.1
pathogenic
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs) microsatellite Moyamoya disease 1 [RCV000755173]|Moyamoya disease 6 with achalasia [RCV000677375] Chr4:155708249..155708250 [GRCh38]
Chr4:156629401..156629402 [GRCh37]
Chr4:4q32.1
pathogenic
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter) single nucleotide variant Moyamoya disease 1 [RCV000755172]|Moyamoya disease 6 with achalasia [RCV000677373] Chr4:155713269 [GRCh38]
Chr4:156634421 [GRCh37]
Chr4:4q32.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.1(chr4:156416305-156713357)x3 copy number gain not provided [RCV000744066] Chr4:156416305..156713357 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4q32.1(chr4:156509941-156955213)x1 copy number loss not provided [RCV000744067] Chr4:156509941..156955213 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4q32.1(chr4:156587886-156598081)x1 copy number loss not provided [RCV000744069] Chr4:156587886..156598081 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4q32.1(chr4:156587887-156598081)x1 copy number loss not provided [RCV000744070] Chr4:156587887..156598081 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4q32.1(chr4:156595742-156598385)x1 copy number loss not provided [RCV000744071] Chr4:156595742..156598385 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4q32.1(chr4:156596190-156598385)x0 copy number loss not provided [RCV000744072] Chr4:156596190..156598385 [GRCh37]
Chr4:4q32.1
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001130682.3(GUCY1A1):c.1074A>G (p.Lys358=) single nucleotide variant Moyamoya disease 6 with achalasia [RCV001702204] Chr4:155711239 [GRCh38]
Chr4:156632391 [GRCh37]
Chr4:4q32.1
benign
NM_001130682.3(GUCY1A1):c.1734C>T (p.His578=) single nucleotide variant not provided [RCV000922552] Chr4:155722055 [GRCh38]
Chr4:156643207 [GRCh37]
Chr4:4q32.1
likely benign
NM_001130682.3(GUCY1A1):c.12G>A (p.Thr4=) single nucleotide variant not provided [RCV000901382] Chr4:155696879 [GRCh38]
Chr4:156618031 [GRCh37]
Chr4:4q32.1
likely benign
GRCh37/hg19 4q32.1(chr4:156578400-158404825)x1 copy number loss not provided [RCV001005608] Chr4:156578400..158404825 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_001130682.3(GUCY1A1):c.390G>A (p.Glu130=) single nucleotide variant not provided [RCV000895234] Chr4:155710555 [GRCh38]
Chr4:156631707 [GRCh37]
Chr4:4q32.1
likely benign
NM_001130682.3(GUCY1A1):c.822G>A (p.Ser274=) single nucleotide variant not provided [RCV000882827] Chr4:155710987 [GRCh38]
Chr4:156632139 [GRCh37]
Chr4:4q32.1
likely benign
NM_001130682.3(GUCY1A1):c.1863A>G (p.Thr621=) single nucleotide variant not provided [RCV000907259] Chr4:155722184 [GRCh38]
Chr4:156643336 [GRCh37]
Chr4:4q32.1
likely benign
NM_001130682.3(GUCY1A1):c.1437T>C (p.Asn479=) single nucleotide variant not provided [RCV000973086] Chr4:155713448 [GRCh38]
Chr4:156634600 [GRCh37]
Chr4:4q32.1
benign
NM_001130682.3(GUCY1A1):c.1650G>A (p.Ala550=) single nucleotide variant not provided [RCV000961586] Chr4:155717236 [GRCh38]
Chr4:156638388 [GRCh37]
Chr4:4q32.1
benign
NM_001130682.3(GUCY1A1):c.73G>A (p.Val25Ile) single nucleotide variant not provided [RCV000888097] Chr4:155696940 [GRCh38]
Chr4:156618092 [GRCh37]
Chr4:4q32.1
benign
NM_001130682.3(GUCY1A1):c.1488G>A (p.Gln496=) single nucleotide variant not provided [RCV000977835] Chr4:155713499 [GRCh38]
Chr4:156634651 [GRCh37]
Chr4:4q32.1
likely benign
GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1 copy number loss not provided [RCV001005606] Chr4:153061243..157994448 [GRCh37]
Chr4:4q31.3-32.1
likely pathogenic
GRCh37/hg19 4q32.1(chr4:156496866-156952792)x1 copy number loss not provided [RCV000849517] Chr4:156496866..156952792 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1 copy number loss not provided [RCV000848578] Chr4:154907679..159012980 [GRCh37]
Chr4:4q31.3-32.1
uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q32.1(chr4:156610216-156842193)x3 copy number gain not provided [RCV000846404] Chr4:156610216..156842193 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_001130682.3(GUCY1A1):c.366A>G (p.Ala122=) single nucleotide variant not provided [RCV000956265] Chr4:155708284 [GRCh38]
Chr4:156629436 [GRCh37]
Chr4:4q32.1
benign
NM_001130682.3(GUCY1A1):c.1687G>A (p.Val563Ile) single nucleotide variant Moyamoya disease 6 with achalasia [RCV001262364] Chr4:155717273 [GRCh38]
Chr4:156638425 [GRCh37]
Chr4:4q32.1
uncertain significance
NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=) single nucleotide variant Moyamoya disease 6 with achalasia [RCV001334592] Chr4:155710795 [GRCh38]
Chr4:156631947 [GRCh37]
Chr4:4q32.1
uncertain significance
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3
pathogenic
NM_001130682.3(GUCY1A1):c.1249G>T (p.Glu417Ter) single nucleotide variant Moyamoya disease 6 with achalasia [RCV001333575] Chr4:155713260 [GRCh38]
Chr4:156634412 [GRCh37]
Chr4:4q32.1
pathogenic
NM_001130682.3(GUCY1A1):c.1086+1G>T single nucleotide variant Moyamoya disease 6 with achalasia [RCV001783406]   pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4685 AgrOrtholog
COSMIC GUCY1A1 COSMIC
Ensembl Genes ENSG00000164116 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000296518 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377418 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000409903 UniProtKB/TrEMBL
  ENSP00000412201 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421493 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422141 UniProtKB/TrEMBL
  ENSP00000424361 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000424863 UniProtKB/TrEMBL
  ENSP00000426040 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000426968 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479710 UniProtKB/TrEMBL
Ensembl Transcript ENST00000296518 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393832 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000443668 UniProtKB/TrEMBL
  ENST00000455639 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000506455 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000509901 UniProtKB/TrEMBL
  ENST00000511108 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000511507 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000513574 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000515201 UniProtKB/TrEMBL
  ENST00000621234 UniProtKB/TrEMBL
Gene3D-CATH 3.30.450.260 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.1230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164116 GTEx
HGNC ID HGNC:4685 ENTREZGENE
Human Proteome Map GUCY1A1 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A/G_cyclase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  H-NOX_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Heme_NO-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNOB_dom_associated UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNOB_dom_associated_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NO_sig/Golgi_transp_ligand-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2982 UniProtKB/Swiss-Prot
NCBI Gene 2982 ENTREZGENE
OMIM 139396 OMIM
  615750 OMIM
Pfam Guanylate_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNOB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HNOBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29067 PharmGKB
PROSITE GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYCc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF111126 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KU69 ENTREZGENE, UniProtKB/TrEMBL
  D6RF78_HUMAN UniProtKB/TrEMBL
  GCYA1_HUMAN UniProtKB/Swiss-Prot
  J3KPQ8_HUMAN UniProtKB/TrEMBL
  J3KQW2_HUMAN UniProtKB/TrEMBL
  Q02108 ENTREZGENE
  Q6PJR4_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DP19 UniProtKB/Swiss-Prot
  D6RDW3 UniProtKB/Swiss-Prot
  O43843 UniProtKB/Swiss-Prot
  Q8TAH3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-11-28 GUCY1A1  guanylate cyclase 1 soluble subunit alpha 1  GUCY1A3  guanylate cyclase 1 soluble subunit alpha  Symbol and/or name change 5135510 APPROVED
2016-06-28 GUCY1A3  guanylate cyclase 1 soluble subunit alpha    guanylate cyclase 1, soluble, alpha 3  Symbol and/or name change 5135510 APPROVED