ADSS1 (adenylosuccinate synthase 1) - Rat Genome Database

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Gene: ADSS1 (adenylosuccinate synthase 1) Homo sapiens
Analyze
Symbol: ADSS1
Name: adenylosuccinate synthase 1
RGD ID: 1351020
HGNC Page HGNC:20093
Description: Enables adenylosuccinate synthase activity. Involved in AMP biosynthetic process. Located in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenylosuccinate synthase like 1; adenylosuccinate synthetase isozyme 1; adenylosuccinate synthetase, basic isozyme; adenylosuccinate synthetase, muscle isozyme; adenylosuccinate synthetase-like 1; adSS 1; ADSSL1; AMPSase 1; FLJ38602; IMP--aspartate ligase 1; M-type adenylosuccinate synthetase; MPD5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814104,724,229 - 104,747,325 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14104,724,174 - 104,747,325 (+)EnsemblGRCh38hg38GRCh38
GRCh3714105,190,566 - 105,213,662 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614104,261,579 - 104,284,692 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414104,267,272 - 104,284,690NCBI
Celera1485,245,724 - 85,268,719 (+)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1485,387,628 - 85,410,637 (+)NCBIHuRef
CHM1_114105,128,295 - 105,151,263 (+)NCBICHM1_1
T2T-CHM13v2.01498,967,108 - 98,990,211 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
ADSS1HumanExperimental Diabetes Mellitus  ISOAdss1 (Rattus norvegicus)1598762protein:increased activity:heart (rat)RGD 
ADSS1Humansarcoma  ISOAdss1 (Rattus norvegicus)5143928protein:decreased activity:tumor (rat)RGD 
1 to 19 of 19 rows
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Original Reference(s)
ADSS1HumanCharcot-Marie-Tooth disease axonal type 2O  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2OClinVarPMID:28492532
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Myopathy more ...ClinVarPMID:25741868 and PMID:39825153
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Myopathy more ...ClinVarPMID:25741868
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Myopathy more ...ClinVarPMID:25741868 more ...
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: ADSS1-related conditionClinVarPMID:28492532
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Myopathy more ...ClinVarPMID:16199547 more ...
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Myopathy more ...ClinVarPMID:25741868 more ...
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Myopathy more ...ClinVarPMID:25741868 more ...
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Myopathy more ...ClinVarPMID:28492532 and PMID:32331917
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Myopathy more ...ClinVarPMID:25741868 more ...
ADSS1HumanDistal Myopathy 5  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Myopathy more ...ClinVarPMID:28268051
ADSS1Humanfetal akinesia deformation sequence syndrome 1  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1ClinVarPMID:25741868 more ...
ADSS1Humanfocal segmental glomerulosclerosis 5  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5ClinVarPMID:28492532
ADSS1Humangenetic disease  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868
ADSS1Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
ADSS1Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
ADSS1Humangenetic disease  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 and PMID:28492532
ADSS1Humanimmunodeficiency 132A  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Herpes simplex encephalitis more ...ClinVarPMID:28492532
1 to 19 of 19 rows
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Original Reference(s)
ADSS1HumanDistal Myopathy 5  IAGP 7240710 OMIM 

1 to 20 of 113 rows

  
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Original Reference(s)
ADSS1Human(+)-schisandrin B multiple interactionsISOAdss1 (Rattus norvegicus)6480464schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of ADSS1 mRNA]CTDPMID:31150632
ADSS1Human(1->4)-beta-D-glucan multiple interactionsISOAdss1 (Mus musculus)6480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of ADSS1 mRNACTDPMID:36331819
ADSS1Human17beta-estradiol decreases expressionISOAdss1 (Rattus norvegicus)6480464Estradiol results in decreased expression of ADSS1 mRNACTDPMID:32145629
ADSS1Human17beta-estradiol decreases expressionISOAdss1 (Mus musculus)6480464Estradiol results in decreased expression of ADSS1 mRNACTDPMID:19484750
ADSS1Human2,2',4,4'-Tetrabromodiphenyl ether decreases expressionEXP 64804642 more ...CTDPMID:31675489
ADSS1Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISOAdss1 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of ADSS1 mRNACTDPMID:33387578
ADSS1Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOAdss1 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of ADSS1 mRNACTDPMID:21724226 and PMID:32109520
ADSS1Human2,4,6-tribromophenol decreases expressionEXP 64804642 more ...CTDPMID:31675489
ADSS1Human3,3',4,4'-tetrachlorobiphenyl multiple interactionsISOAdss1 (Mus musculus)64804643 more ...CTDPMID:19467301
ADSS1Human3,3',5,5'-tetrabromobisphenol A decreases expressionEXP 6480464tetrabromobisphenol A results in decreased expression of ADSS1 proteinCTDPMID:31675489
ADSS1Human4,4'-sulfonyldiphenol decreases expressionEXP 6480464bisphenol S results in decreased expression of ADSS1 mRNACTDPMID:27685785
ADSS1Human4,4'-sulfonyldiphenol decreases methylationEXP 6480464bisphenol S results in decreased methylation of ADSS1 geneCTDPMID:31601247
ADSS1Human4,4'-sulfonyldiphenol increases expressionISOAdss1 (Mus musculus)6480464bisphenol S results in increased expression of ADSS1 mRNACTDPMID:39298647
ADSS1Human4-hydroxyphenyl retinamide increases expressionISOAdss1 (Mus musculus)6480464Fenretinide results in increased expression of ADSS1 mRNACTDPMID:28973697
ADSS1Human6-propyl-2-thiouracil decreases expressionISOAdss1 (Rattus norvegicus)6480464Propylthiouracil results in decreased expression of ADSS1 mRNACTDPMID:24780913 and PMID:30047161
ADSS1Humanacrylamide increases expressionISOAdss1 (Rattus norvegicus)6480464Acrylamide results in increased expression of ADSS1 mRNACTDPMID:28959563
ADSS1Humanaflatoxin B1 decreases expressionEXP 6480464Aflatoxin B1 results in decreased expression of ADSS1 mRNACTDPMID:22100608
ADSS1Humanaflatoxin B1 decreases expressionISOAdss1 (Mus musculus)6480464Aflatoxin B1 results in decreased expression of ADSS1 mRNACTDPMID:19770486
ADSS1Humanall-trans-retinoic acid increases expressionEXP 6480464Tretinoin results in increased expression of ADSS1 mRNACTDPMID:33167477
ADSS1Humanalpha-Zearalanol decreases expressionISOAdss1 (Rattus norvegicus)6480464Zeranol results in decreased expression of ADSSL1 mRNACTDPMID:35163327

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Biological Process
1 to 20 of 25 rows

  
Object Symbol
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Original Reference(s)
ADSS1Human'de novo' AMP biosynthetic process involved_inIEAUniRule:UR000106946 and UniRule:UR000375791150520179 UniProtGO_REF:0000104
ADSS1Human'de novo' AMP biosynthetic process involved_inIBAMGI:87948 more ...150520179 GO_CentralGO_REF:0000033
ADSS1Human'de novo' AMP biosynthetic process involved_inIEAUniPathway:UPA00075150520179 UniProtGO_REF:0000041
ADSS1HumanAMP biosynthetic process involved_inIEAInterPro:IPR027509150520179 InterProGO_REF:0000002
ADSS1HumanAMP biosynthetic process involved_inIDA 150520179 PMID:15786719UniProtPMID:15786719
ADSS1HumanAMP salvage involved_inIEAUniProtKB:P28650 and ensembl:ENSMUSP00000021726150520179 EnsemblGO_REF:0000107
ADSS1Humanaspartate metabolic process involved_inIEAUniProtKB:A0A8I6G9X7 and ensembl:ENSRNOP00000082793150520179 EnsemblGO_REF:0000107
ADSS1Humanaspartate metabolic process  ISOAdss1 (Rattus norvegicus)9068941 RGDPMID:3759987 and REF_RGD_ID:5135303
ADSS1Humancellular response to electrical stimulus involved_inIEAUniProtKB:A0A8I6G9X7 and ensembl:ENSRNOP00000082793150520179 EnsemblGO_REF:0000107
ADSS1Humancellular response to electrical stimulus  ISOAdss1 (Rattus norvegicus)9068941 RGDPMID:10636885 and REF_RGD_ID:5135512
ADSS1Humancellular response to xenobiotic stimulus involved_inIEAUniProtKB:A0A8I6G9X7 and ensembl:ENSRNOP00000082793150520179 EnsemblGO_REF:0000107
ADSS1Humancellular response to xenobiotic stimulus  ISOAdss1 (Rattus norvegicus)9068941cyclosporin ARGDPMID:10636885 and REF_RGD_ID:5135512
ADSS1Humanglutamine metabolic process  ISOAdss1 (Rattus norvegicus)9068941 RGDPMID:12522136 and REF_RGD_ID:5135508
ADSS1Humanglutamine metabolic process involved_inIEAUniProtKB:A0A8I6G9X7 and ensembl:ENSRNOP00000082793150520179 EnsemblGO_REF:0000107
ADSS1Humanimmune system process involved_inNAS 150520179 PMID:15786719UniProtPMID:15786719
ADSS1HumanIMP metabolic process  ISOAdss1 (Rattus norvegicus)9068941 RGDPMID:3759987 and REF_RGD_ID:5135303
ADSS1HumanIMP metabolic process involved_inIBAPANTHER:PTN000217844 more ...150520179 GO_CentralGO_REF:0000033
ADSS1HumanIMP metabolic process involved_inIEAUniProtKB:A0A8I6G9X7 and ensembl:ENSRNOP00000082793150520179 EnsemblGO_REF:0000107
ADSS1Humanpurine nucleotide biosynthetic process involved_inIEAUniProtKB-KW:KW-0658150520179 UniProtGO_REF:0000043
ADSS1Humanpurine nucleotide biosynthetic process involved_inIEAInterPro:IPR001114150520179 InterProGO_REF:0000002
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Cellular Component
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Original Reference(s)
ADSS1Humancytoplasm located_inIEAUniRule:UR000106946 and UniRule:UR000375791150520179 UniProtGO_REF:0000104
ADSS1Humancytoplasm located_inIEAUniProtKB:P28650 and ensembl:ENSMUSP00000021726150520179 EnsemblGO_REF:0000107
ADSS1Humancytoplasm located_inIEAInterPro:IPR027509150520179 InterProGO_REF:0000002
ADSS1Humancytoplasm located_inIDA 150520179 PMID:15786719UniProtPMID:15786719
ADSS1Humancytoplasm located_inIEAUniProtKB-KW:KW-0963150520179 UniProtGO_REF:0000043
ADSS1Humancytoplasm located_inIEAUniProtKB-SubCell:SL-0086150520179 UniProtGO_REF:0000044
ADSS1Humancytoplasm is_active_inIBAMGI:87947 more ...150520179 GO_CentralGO_REF:0000033
ADSS1Humancytosol located_inTAS 150520179 ReactomeReactome:R-HSA-111524
ADSS1Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
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Molecular Function
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Original Reference(s)
ADSS1Humanactin filament binding enablesIEAUniProtKB:A0A8I6G9X7 and ensembl:ENSRNOP00000082793150520179 EnsemblGO_REF:0000107
ADSS1Humanactin filament binding  ISOAdss1 (Rattus norvegicus)9068941 RGDPMID:648524 and REF_RGD_ID:5135531
ADSS1Humanadenylosuccinate synthase activity  ISOAdss1 (Rattus norvegicus)9068941 RGDPMID:3759987 and REF_RGD_ID:5135303
ADSS1Humanadenylosuccinate synthase activity enablesIEAUniProtKB:A0A8I6G9X7 more ...150520179 EnsemblGO_REF:0000107
ADSS1Humanadenylosuccinate synthase activity enablesIBAMGI:87947 more ...150520179 GO_CentralGO_REF:0000033
ADSS1Humanadenylosuccinate synthase activity enablesIDA 150520179 PMID:15786719UniProtPMID:15786719
ADSS1Humanadenylosuccinate synthase activity enablesIEARHEA:15753150520179 RHEAGO_REF:0000116
ADSS1Humanadenylosuccinate synthase activity enablesIEAEC:6.3.4.4150520179 UniProtGO_REF:0000003
ADSS1Humanadenylosuccinate synthase activity enablesIMP 150520179 PMID:26506222UniProtPMID:26506222
ADSS1Humanadenylosuccinate synthase activity enablesIEAUniRule:UR000106946 and UniRule:UR000375791150520179 UniProtGO_REF:0000104
ADSS1Humanadenylosuccinate synthase activity enablesIEAInterPro:IPR001114 and InterPro:IPR027509150520179 InterProGO_REF:0000002
ADSS1HumanGTP binding enablesIEAInterPro:IPR018220 and InterPro:IPR027509150520179 InterProGO_REF:0000002
ADSS1HumanGTP binding enablesNAS 150520179 PMID:15786719UniProtPMID:15786719
ADSS1HumanGTP binding enablesIEAUniProtKB-KW:KW-0342150520179 UniProtGO_REF:0000043
ADSS1HumanGTP binding enablesIEAUniRule:UR000106946 and UniRule:UR000375791150520179 UniProtGO_REF:0000104
ADSS1HumanGTPase activity enablesIEAUniProtKB:A0A8I6G9X7 and ensembl:ENSRNOP00000082793150520179 EnsemblGO_REF:0000107
ADSS1HumanGTPase activity  ISOAdss1 (Rattus norvegicus)9068941 RGDPMID:3542024 and REF_RGD_ID:5135521
ADSS1Humanidentical protein binding enablesIEAUniProtKB:A0A8I6G9X7 and ensembl:ENSRNOP00000082793150520179 EnsemblGO_REF:0000107
ADSS1Humanidentical protein binding  ISOAdss1 (Rattus norvegicus)9068941homodimerizationRGDPMID:18452 and REF_RGD_ID:5135532
ADSS1Humanligase activity enablesIEAUniProtKB-KW:KW-0436150520179 UniProtGO_REF:0000043
1 to 20 of 26 rows

RGD Manual Annotations


  
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Original Reference(s)
ADSS1Humande novo purine biosynthetic pathway   TAS 5143930 RGD 

Imported Annotations - SMPDB

Object Symbol
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Evidence
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Reference
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Original Reference(s)
ADSS1HumanCanavan disease pathway  EXP 10402751 SMPDBSMP:00175

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
ADSS1Humanalanine, aspartate and glutamate metabolic pathway  IEA 6907045 KEGGhsa:00250
ADSS1Humanpurine metabolic pathway  IEA 6907045 KEGGhsa:00230
1 to 20 of 49 rows
Object Symbol
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Term
Qualifier
Evidence
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Reference
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Source
Original Reference(s)
ADSS1HumanAnkle contracture  IAGP 8699517 HPOORPHA:482601
ADSS1HumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:617030 and PMID:26506222
ADSS1HumanDecreased Achilles reflex  IAGP 8699517 HPOORPHA:482601
ADSS1HumanDifficulty climbing stairs  IAGP 8699517 HPOORPHA:482601
ADSS1HumanDifficulty running  IAGP 8699517 HPOORPHA:482601
ADSS1HumanDistal amyotrophy  IAGP 8699517 HPOMIM:617030 and PMID:26506222
ADSS1HumanDistal lower limb amyotrophy  IAGP 8699517 HPOORPHA:482601
ADSS1HumanDistal lower limb muscle weakness  IAGP 8699517 HPOORPHA:482601
ADSS1HumanDistal lower limb muscle weakness  IAGP 8699517 HPOMIM:617030 and PMID:26506222
ADSS1HumanDistal upper limb muscle weakness  IAGP 8699517 HPOORPHA:482601
ADSS1HumanDistal upper limb muscle weakness  IAGP 8699517 HPOMIM:617030 and PMID:26506222
ADSS1HumanElbow contracture  IAGP 8699517 HPOORPHA:482601
ADSS1HumanElevated circulating creatine kinase concentration  IAGP 8699517 HPOORPHA:482601
ADSS1HumanEMG: myopathic abnormalities  IAGP 8699517 HPOORPHA:482601
ADSS1HumanFatigable weakness of chewing muscles  IAGP 8699517 HPOORPHA:482601
ADSS1HumanFatty replacement of skeletal muscle  IAGP 8699517 HPOORPHA:482601
ADSS1HumanFoot dorsiflexor weakness  IAGP 8699517 HPOORPHA:482601
ADSS1HumanFrequent falls  IAGP 8699517 HPOORPHA:482601
ADSS1HumanGeneralized amyotrophy  IAGP 8699517 HPOORPHA:482601
ADSS1HumanHigh palate  IAGP 8699517 HPOORPHA:482601
1 to 20 of 49 rows
Object Symbol
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Evidence
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Reference
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Original Reference(s)
ADSS1HumanArthrogryposis multiplex congenita  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Arthrogryposis multiplex congenitaClinVarPMID:25741868 more ...
ADSS1HumanFetal akinesia sequence  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Fetal akinesia sequenceClinVarPMID:25741868 more ...

#
Reference Title
Reference Citation
1. Adenylosuccinate synthetase: recent developments. Honzatko RB, etal., Adv Enzymol Relat Areas Mol Biol. 1999;73:57-102, ix-x.
2. Isozyme shift of adenylosuccinate synthase in rat and human neoplasms. Ikegami T, etal., Adv Exp Med Biol. 1989;253A:417-21.
3. Adenine nucleotide metabolism in hearts of diabetic rats. Comparison to diaphragm, liver, and kidney. Jenkins RL, etal., Diabetes. 1988 May;37(5):629-36.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
PMID:1574589   PMID:1592113   PMID:11560929   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15786719   PMID:21873635   PMID:21988832   PMID:22984654   PMID:26506222   PMID:27684187  
PMID:28268051   PMID:28514442   PMID:28611215   PMID:31839598   PMID:32646962   PMID:33961781   PMID:34857952   PMID:35831314   PMID:36215168   PMID:38334954   PMID:39358380  



ADSS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814104,724,229 - 104,747,325 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14104,724,174 - 104,747,325 (+)EnsemblGRCh38hg38GRCh38
GRCh3714105,190,566 - 105,213,662 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614104,261,579 - 104,284,692 (+)NCBINCBI36Build 36hg18NCBI36
Build 3414104,267,272 - 104,284,690NCBI
Celera1485,245,724 - 85,268,719 (+)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1485,387,628 - 85,410,637 (+)NCBIHuRef
CHM1_114105,128,295 - 105,151,263 (+)NCBICHM1_1
T2T-CHM13v2.01498,967,108 - 98,990,211 (+)NCBIT2T-CHM13v2.0
Adss1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912112,586,481 - 112,607,789 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12112,586,479 - 112,607,794 (+)EnsemblGRCm39 Ensembl
GRCm3812112,620,047 - 112,641,355 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12112,620,045 - 112,641,360 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712113,858,258 - 113,879,566 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612113,067,897 - 113,089,148 (+)NCBIMGSCv36mm8
Celera12113,833,723 - 113,854,981 (+)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1261.2NCBI
Adss1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86137,500,549 - 137,523,087 (+)NCBIGRCr8
mRatBN7.26131,679,795 - 131,702,012 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6131,679,701 - 131,701,998 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.06137,184,818 - 137,206,694 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6137,184,820 - 137,206,693 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06146,191,525 - 146,213,871 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera6129,227,958 - 129,249,670 (+)NCBICelera
Cytogenetic Map6q32NCBI
Adss1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555383,179,299 - 3,196,251 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555383,179,299 - 3,196,251 (+)NCBIChiLan1.0ChiLan1.0
ADSS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215105,906,601 - 105,929,460 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan114105,123,110 - 105,145,977 (+)NCBINHGRI_mPanPan1
PanPan1.1 Ensembl14105,169,769 - 105,190,333 (+)Ensemblpanpan1.1panPan2
ADSS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1872,288,246 - 72,305,479 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl872,288,323 - 72,305,479 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha871,794,530 - 71,811,245 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0872,563,724 - 72,580,480 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl872,563,747 - 72,580,480 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1872,246,454 - 72,263,107 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0872,289,706 - 72,306,363 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0872,689,260 - 72,705,927 (+)NCBIUU_Cfam_GSD_1.0
Adss1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086401,826,047 - 1,840,007 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936621655,008 - 664,762 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936621655,004 - 667,608 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADSS1
(Sus scrofa - pig)		 No map positions available.
ADSS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12482,662,232 - 82,684,690 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2482,662,319 - 82,684,874 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605370,083,482 - 70,105,939 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adss1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624734535,101 - 552,535 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624734536,109 - 552,406 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in ADSS1
413 total Variants

1 to 10 of 531 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_152328.5(ADSS1):c.193-5122G>A single nucleotide variant Myopathy, distal, 5 [RCV001549252]|not provided [RCV002241373] Chr14:104729898 [GRCh38]
Chr14:105196235 [GRCh37]
Chr14:14q32.33		 benign
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 copy number loss See cases [RCV000051580] Chr14:102584963..104898605 [GRCh38]
Chr14:103051300..105364942 [GRCh37]
Chr14:102121053..104435987 [NCBI36]
Chr14:14q32.31-32.33		 pathogenic
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1 copy number loss See cases [RCV000051581] Chr14:103784758..106870558 [GRCh38]
Chr14:104251095..107278770 [GRCh37]
Chr14:103320848..106349815 [NCBI36]
Chr14:14q32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33		 pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33		 pathogenic
1 to 10 of 531 rows

Predicted Target Of
Summary Value
Count of predictions:2557
Count of miRNA genes:816
Interacting mature miRNAs:961
Transcripts:ENST00000330877, ENST00000332972, ENST00000553540, ENST00000553580, ENST00000554281, ENST00000554657, ENST00000555486, ENST00000555674, ENST00000555884, ENST00000556623, ENST00000557271, ENST00000557582
Prediction methods:Microtar, 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.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597180680GWAS1276754_Hdisorder of pharynx QTL GWAS1276754 (human)0.0000001disorder of pharynx14104740994104740995Human
597589662GWAS1646522_Hhypothyroidism QTL GWAS1646522 (human)3e-19hypothyroidism14104743870104743871Human
597389000GWAS1485074_Hbreast carcinoma QTL GWAS1485074 (human)2e-08mammary gland integrity trait (VT:0010552)14104745924104745927Human
597182428GWAS1278502_Htonsillitis QTL GWAS1278502 (human)9e-08tonsillitis14104740994104740995Human
597590585GWAS1647445_Hhypothyroidism QTL GWAS1647445 (human)3e-19hypothyroidism14104741700104741701Human
597414147GWAS1510221_Hbreast carcinoma QTL GWAS1510221 (human)8e-08mammary gland integrity trait (VT:0010552)14104745924104745927Human
597181121GWAS1277195_Hadenylosuccinate synthetase isozyme 2 measurement QTL GWAS1277195 (human)7e-19adenylosuccinate synthetase isozyme 2 measurement14104728984104728985Human
597123722GWAS1219796_Hclear cell renal carcinoma QTL GWAS1219796 (human)4e-12clear cell renal carcinoma14104725689104725690Human

SGC32943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714105,213,475 - 105,213,624UniSTSGRCh37
Build 3614104,284,520 - 104,284,669RGDNCBI36
Celera1485,268,547 - 85,268,696RGD
Cytogenetic Map14q32.33UniSTS
HuRef1485,410,465 - 85,410,614UniSTS
GeneMap99-GB4 RH Map14279.47UniSTS
Whitehead-RH Map14364.0UniSTS
NCBI RH Map141124.5UniSTS
G19662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714105,213,463 - 105,213,587UniSTSGRCh37
Build 3614104,284,508 - 104,284,632RGDNCBI36
Celera1485,268,535 - 85,268,659RGD
Cytogenetic Map14q32.33UniSTS
HuRef1485,410,453 - 85,410,577UniSTS
A001U22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714105,213,463 - 105,213,587UniSTSGRCh37
Build 3614104,284,508 - 104,284,632RGDNCBI36
Celera1485,268,535 - 85,268,659RGD
Cytogenetic Map14q32.33UniSTS
HuRef1485,410,453 - 85,410,577UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
NCBI RH Map141117.3UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4943 1723 2346 4 622 1840 465 2268 7175 6347 52 3709 848 1733 1612 170


1 to 25 of 25 rows
RefSeq Transcripts NG_051175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ573490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY037159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX248286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY011538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 25 of 25 rows

Ensembl Acc Id: ENST00000330877   ⟹   ENSP00000331260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,724,229 - 104,747,310 (+)Ensembl
Ensembl Acc Id: ENST00000332972   ⟹   ENSP00000333019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,729,734 - 104,747,310 (+)Ensembl
Ensembl Acc Id: ENST00000553540   ⟹   ENSP00000450759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,729,893 - 104,747,308 (+)Ensembl
Ensembl Acc Id: ENST00000553580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,741,943 - 104,744,963 (+)Ensembl
Ensembl Acc Id: ENST00000554281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,741,920 - 104,743,550 (+)Ensembl
Ensembl Acc Id: ENST00000554657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,744,800 - 104,747,308 (+)Ensembl
Ensembl Acc Id: ENST00000555486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,729,734 - 104,742,001 (+)Ensembl
Ensembl Acc Id: ENST00000555674   ⟹   ENSP00000450433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,746,056 - 104,747,107 (+)Ensembl
Ensembl Acc Id: ENST00000555884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,744,344 - 104,747,325 (+)Ensembl
Ensembl Acc Id: ENST00000556623   ⟹   ENSP00000452303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,745,993 - 104,747,310 (+)Ensembl
Ensembl Acc Id: ENST00000557271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,744,719 - 104,747,308 (+)Ensembl
Ensembl Acc Id: ENST00000557582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,737,143 - 104,747,308 (+)Ensembl
Ensembl Acc Id: ENST00000710323   ⟹   ENSP00000518203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14104,724,174 - 104,747,310 (+)Ensembl
RefSeq Acc Id: NM_001320424   ⟹   NP_001307353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,729,844 - 104,747,325 (+)NCBI
CHM1_114105,133,814 - 105,151,278 (+)NCBI
T2T-CHM13v2.01498,972,723 - 98,990,211 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152328   ⟹   NP_689541
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,724,229 - 104,747,310 (+)NCBI
GRCh3714105,190,534 - 105,213,662 (+)NCBI
Build 3614104,261,579 - 104,284,692 (+)NCBI Archive
Celera1485,245,724 - 85,268,719 (+)RGD
HuRef1485,387,628 - 85,410,637 (+)ENTREZGENE
CHM1_114105,128,295 - 105,151,278 (+)NCBI
T2T-CHM13v2.01498,967,108 - 98,990,196 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199165   ⟹   NP_954634
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,729,844 - 104,747,325 (+)NCBI
GRCh3714105,190,534 - 105,213,662 (+)NCBI
Build 3614104,267,273 - 104,284,692 (+)NCBI Archive
Celera1485,245,724 - 85,268,719 (+)RGD
HuRef1485,387,628 - 85,410,637 (+)ENTREZGENE
CHM1_114105,133,814 - 105,151,278 (+)NCBI
T2T-CHM13v2.01498,972,723 - 98,990,211 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006720026   ⟹   XP_006720089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,724,229 - 104,747,325 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536412   ⟹   XP_011534714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,729,844 - 104,747,325 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430916   ⟹   XP_047286872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,737,013 - 104,747,325 (+)NCBI
RefSeq Acc Id: XM_047430917   ⟹   XP_047286873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814104,736,937 - 104,747,325 (+)NCBI
RefSeq Acc Id: XM_054375348   ⟹   XP_054231323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,972,723 - 98,990,211 (+)NCBI
RefSeq Acc Id: XM_054375349   ⟹   XP_054231324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,967,108 - 98,990,211 (+)NCBI
RefSeq Acc Id: XM_054375350   ⟹   XP_054231325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,979,899 - 98,990,211 (+)NCBI
RefSeq Acc Id: XM_054375351   ⟹   XP_054231326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01498,979,823 - 98,990,211 (+)NCBI
1 to 5 of 17 rows
1 to 5 of 17 rows
RefSeq Acc Id: NP_689541   ⟸   NM_152328
- Peptide Label: isoform 2
- UniProtKB: Q86TT6 (UniProtKB/Swiss-Prot),   Q8N714 (UniProtKB/Swiss-Prot),   Q8N142 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_954634   ⟸   NM_199165
- Peptide Label: isoform 1
- UniProtKB: Q8N142 (UniProtKB/Swiss-Prot),   B3KTV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006720089   ⟸   XM_006720026
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011534714   ⟸   XM_011536412
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001307353   ⟸   NM_001320424
- Peptide Label: isoform 3
- UniProtKB: B3KTV4 (UniProtKB/TrEMBL)
- Sequence:

Name Modeler Protein Id AA Range Protein Structure
AF-Q8N142-F1-model_v2 AlphaFold Q8N142 1-457 view protein structure

RGD ID:6791239
Promoter ID:HG_KWN:20373
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_152328
Position:
Human AssemblyChrPosition (strand)Source
Build 3614104,260,861 - 104,261,752 (+)MPROMDB
RGD ID:6791245
Promoter ID:HG_KWN:20374
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_199165,   UC001YPF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3614104,266,646 - 104,267,447 (+)MPROMDB
RGD ID:7228753
Promoter ID:EPDNEW_H20123
Type:initiation region
Name:ADSSL1_1
Description:adenylosuccinate synthase like 1
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
GRCh3814104,724,229 - 104,724,289EPDNEW


1 to 40 of 42 rows
Database
Acc Id
Source(s)
COSMIC ADSS1 COSMIC
Ensembl Genes ENSG00000185100 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000330877 ENTREZGENE
  ENST00000330877.7 UniProtKB/Swiss-Prot
  ENST00000332972 ENTREZGENE
  ENST00000332972.9 UniProtKB/Swiss-Prot
  ENST00000710323.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.300.10 UniProtKB/Swiss-Prot
  3.40.440.10 UniProtKB/Swiss-Prot
  3.90.170.10 UniProtKB/Swiss-Prot
GTEx ENSG00000185100 GTEx
HGNC ID HGNC:20093 ENTREZGENE
Human Proteome Map ADSS1 Human Proteome Map
InterPro Adenylosuccin_syn_GTP-bd UniProtKB/Swiss-Prot
  Adenylosuccin_syn_Lys_AS UniProtKB/Swiss-Prot
  Adenylosuccinate_synth_dom1 UniProtKB/Swiss-Prot
  Adenylosuccinate_synth_dom2 UniProtKB/Swiss-Prot
  Adenylosuccinate_synth_dom3 UniProtKB/Swiss-Prot
  Adenylosuccinate_synthetase UniProtKB/Swiss-Prot
  AdSS_1_vert UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:122622 UniProtKB/Swiss-Prot
NCBI Gene 122622 ENTREZGENE
OMIM 612498 OMIM
PANTHER ADENYLOSUCCINATE SYNTHETASE ISOZYME 1 UniProtKB/Swiss-Prot
  PTHR11846 UniProtKB/Swiss-Prot
Pfam Adenylsucc_synt UniProtKB/Swiss-Prot
PharmGKB PA134974111 PharmGKB
PROSITE ADENYLOSUCCIN_SYN_1 UniProtKB/Swiss-Prot
  ADENYLOSUCCIN_SYN_2 UniProtKB/Swiss-Prot
SMART Adenylsucc_synt UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot
UniProt B3KTV4 ENTREZGENE, UniProtKB/TrEMBL
  G3V232_HUMAN UniProtKB/TrEMBL
  G3V2N1_HUMAN UniProtKB/TrEMBL
  G3V5D8_HUMAN UniProtKB/TrEMBL
  PURA1_HUMAN UniProtKB/Swiss-Prot
  Q86TT6 ENTREZGENE
  Q8N142 ENTREZGENE
  Q8N714 ENTREZGENE
1 to 40 of 42 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-16 ADSS1  adenylosuccinate synthase 1  ADSSL1  adenylosuccinate synthase like 1  Symbol and/or name change 5135510 APPROVED