SRM (spermidine synthase) - Rat Genome Database
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Gene: SRM (spermidine synthase) Homo sapiens
Analyze
Symbol: SRM
Name: spermidine synthase
RGD ID: 732806
HGNC Page HGNC
Description: Exhibits protein homodimerization activity and spermidine synthase activity. Involved in spermidine biosynthetic process. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: PAPT; putrescine aminopropyltransferase; SPDSY; spermidine synthase-1; SPS1; SRML1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SRMP1   SRMP2   SRMP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl111,054,584 - 11,060,020 (-)EnsemblGRCh38hg38GRCh38
GRCh38111,054,589 - 11,060,053 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37111,114,649 - 11,120,091 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,037,236 - 11,042,678 (-)NCBINCBI36hg18NCBI36
Build 34111,048,942 - 11,054,347NCBI
Celera110,226,954 - 10,232,396 (-)NCBI
Cytogenetic Map1p36.22NCBI
HuRef110,266,094 - 10,271,363 (-)NCBIHuRef
CHM1_1111,102,556 - 11,108,076 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
afimoxifene  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
beauvericin  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
curcumin  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP)
Enterolactone  (EXP)
ethanol  (EXP)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
genistein  (EXP,ISO)
glafenine  (ISO)
hydrogen peroxide  (EXP)
isoprenaline  (ISO)
L-ethionine  (ISO)
L-methionine  (EXP,ISO)
metformin  (ISO)
methotrexate  (EXP,ISO)
methyl methanesulfonate  (EXP)
N-(6-acetamidohexyl)acetamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
omeprazole  (ISO)
paracetamol  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
pyrazinecarboxamide  (ISO)
rotenone  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
tamoxifen  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vincristine  (EXP)
zinc dichloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Function

References

Additional References at PubMed
PMID:2069720   PMID:2344393   PMID:2730590   PMID:3248683   PMID:3481684   PMID:7629810   PMID:7774716   PMID:8343131   PMID:9020892   PMID:12477932   PMID:15489334   PMID:17585781  
PMID:19615732   PMID:19738201   PMID:20562859   PMID:21044950   PMID:21873635   PMID:21988832   PMID:22623428   PMID:22658674   PMID:22939629   PMID:25659154   PMID:25756610   PMID:25921289  
PMID:26344197   PMID:27173435   PMID:27432908   PMID:27503909   PMID:28581483   PMID:29467282   PMID:29478914   PMID:29791485   PMID:29892012   PMID:30397336   PMID:30575818   PMID:31073040  
PMID:31091453   PMID:31478661   PMID:31515488   PMID:32296183   PMID:32694731  


Genomics

Comparative Map Data
SRM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl111,054,584 - 11,060,020 (-)EnsemblGRCh38hg38GRCh38
GRCh38111,054,589 - 11,060,053 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37111,114,649 - 11,120,091 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,037,236 - 11,042,678 (-)NCBINCBI36hg18NCBI36
Build 34111,048,942 - 11,054,347NCBI
Celera110,226,954 - 10,232,396 (-)NCBI
Cytogenetic Map1p36.22NCBI
HuRef110,266,094 - 10,271,363 (-)NCBIHuRef
CHM1_1111,102,556 - 11,108,076 (-)NCBICHM1_1
Srm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394148,675,970 - 148,679,076 (+)NCBIGRCm39mm39
GRCm384148,591,513 - 148,594,619 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4148,591,503 - 148,594,993 (+)EnsemblGRCm38mm10GRCm38
MGSCv374147,965,622 - 147,968,728 (+)NCBIGRCm37mm9NCBIm37
MGSCv364147,435,313 - 147,438,419 (+)NCBImm8
Celera4150,853,070 - 150,856,182 (+)NCBICelera
Cytogenetic Map4E2NCBI
Srm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.05165,405,168 - 165,408,325 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5165,405,168 - 165,408,320 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05169,061,769 - 169,064,926 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45165,672,516 - 165,675,673 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15165,682,703 - 165,685,859 (+)NCBI
Celera5157,302,130 - 157,305,203 (+)NCBICelera
Cytogenetic Map5q36NCBI
Srm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554862,631,586 - 2,634,527 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554862,631,579 - 2,634,779 (+)NCBIChiLan1.0ChiLan1.0
SRM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1111,038,452 - 11,043,186 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v019,817,765 - 9,823,244 (-)NCBIMhudiblu_PPA_v0panPan3
SRM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl284,967,570 - 84,973,087 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1284,968,833 - 84,973,111 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Srm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936474121,135 - 124,894 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SRM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl671,244,143 - 71,253,508 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1671,246,895 - 71,253,534 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2665,154,834 - 65,158,866 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SRM
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120120,718,265 - 120,723,694 (+)NCBI
ChlSab1.1 Ensembl20120,718,424 - 120,723,944 (+)Ensembl
Srm
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248181,725,614 - 1,729,374 (+)NCBI

Position Markers
D20S539E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,116,719 - 11,116,811UniSTSGRCh37
GRCh372046,488,899 - 46,488,991UniSTSGRCh37
Build 36111,039,306 - 11,039,398RGDNCBI36
Celera110,229,024 - 10,229,116RGD
Celera2043,187,109 - 43,187,201UniSTS
Cytogenetic Map1p36-p22UniSTS
Cytogenetic Map20q13.13UniSTS
HuRef110,268,164 - 10,268,256UniSTS
HuRef2043,232,832 - 43,232,924UniSTS
RH70746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,114,796 - 11,114,894UniSTSGRCh37
Build 36111,037,383 - 11,037,481RGDNCBI36
Celera110,227,101 - 10,227,199RGD
Cytogenetic Map1p36-p22UniSTS
HuRef110,266,241 - 10,266,339UniSTS
GeneMap99-GB4 RH Map149.58UniSTS
STS-M34338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,114,922 - 11,115,870UniSTSGRCh37
Celera110,227,227 - 10,228,175UniSTS
Cytogenetic Map1p36-p22UniSTS
HuRef110,266,367 - 10,267,315UniSTS
GeneMap99-GB4 RH Map20270.72UniSTS
NCBI RH Map20492.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2022
Count of miRNA genes:778
Interacting mature miRNAs:909
Transcripts:ENST00000376957, ENST00000459997, ENST00000465788, ENST00000475189, ENST00000487300, ENST00000490101
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.


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 2424 2737 1711 612 1720 454 4354 2157 3703 407 1447 1608 171 1204 2787 3
Low 13 254 13 12 231 11 2 40 21 12 10 3 4 1 1 2 2
Below cutoff 1 8 3 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000376957   ⟹   ENSP00000366156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,054,589 - 11,060,018 (-)Ensembl
RefSeq Acc Id: ENST00000459997   ⟹   ENSP00000465687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,056,011 - 11,060,020 (-)Ensembl
RefSeq Acc Id: ENST00000465788   ⟹   ENSP00000467669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,056,011 - 11,058,873 (-)Ensembl
RefSeq Acc Id: ENST00000475189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,054,584 - 11,055,204 (-)Ensembl
RefSeq Acc Id: ENST00000487300   ⟹   ENSP00000468760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,056,702 - 11,059,686 (-)Ensembl
RefSeq Acc Id: ENST00000490101   ⟹   ENSP00000465966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl111,054,664 - 11,055,820 (-)Ensembl
RefSeq Acc Id: NM_003132   ⟹   NP_003123
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,054,589 - 11,060,018 (-)NCBI
GRCh37111,114,649 - 11,120,091 (-)ENTREZGENE
Build 36111,037,236 - 11,042,678 (-)NCBI Archive
HuRef110,266,094 - 10,271,363 (-)ENTREZGENE
CHM1_1111,102,556 - 11,108,076 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017002179   ⟹   XP_016857668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,055,592 - 11,060,053 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003123   ⟸   NM_003132
- UniProtKB: P19623 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016857668   ⟸   XM_017002179
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000467669   ⟸   ENST00000465788
RefSeq Acc Id: ENSP00000465966   ⟸   ENST00000490101
RefSeq Acc Id: ENSP00000366156   ⟸   ENST00000376957
RefSeq Acc Id: ENSP00000465687   ⟸   ENST00000459997
RefSeq Acc Id: ENSP00000468760   ⟸   ENST00000487300
Protein Domains
PABS

Promoters
RGD ID:6786927
Promoter ID:HG_KWN:653
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000006059
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,038,776 - 11,039,276 (-)MPROMDB
RGD ID:6786928
Promoter ID:HG_KWN:655
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000006056,   OTTHUMT00000006060,   OTTHUMT00000006061,   OTTHUMT00000006062
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,041,696 - 11,043,632 (-)MPROMDB
RGD ID:6854066
Promoter ID:EPDNEW_H198
Type:initiation region
Name:SRM_1
Description:spermidine synthase
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
GRCh38111,060,018 - 11,060,078EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3 copy number gain See cases [RCV000051459] Chr1:10637036..11293430 [GRCh38]
Chr1:10697093..11353487 [GRCh37]
Chr1:10619680..11276074 [NCBI36]
Chr1:1p36.22
uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13
pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] Chr1:9406722..12852772 [GRCh38]
Chr1:9466781..12912625 [GRCh37]
Chr1:9389368..12835212 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.22(chr1:10203955-12060262)x1 copy number loss See cases [RCV000053758] Chr1:10203955..12060262 [GRCh38]
Chr1:10264013..12120319 [GRCh37]
Chr1:10186600..12042906 [NCBI36]
Chr1:1p36.22
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21
pathogenic|likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 copy number gain See cases [RCV000141823] Chr1:11021751..15236671 [GRCh38]
Chr1:11081808..15563167 [GRCh37]
Chr1:11004395..15435754 [NCBI36]
Chr1:1p36.22-36.21
likely pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 copy number loss See cases [RCV000141438] Chr1:10264397..15780840 [GRCh38]
Chr1:10324455..16107335 [GRCh37]
Chr1:10247042..15979922 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21
likely pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 copy number gain See cases [RCV000448222] Chr1:7301946..11143298 [GRCh37]
Chr1:1p36.23-36.22
pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1 copy number loss See cases [RCV000510444] Chr1:10722955..12910774 [GRCh37]
Chr1:1p36.22-36.21
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1 copy number loss See cases [RCV000512501] Chr1:10722725..14267773 [GRCh37]
Chr1:1p36.22-36.21
likely pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13
likely pathogenic
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 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 copy number loss not provided [RCV001005065] Chr1:9852396..11909475 [GRCh37]
Chr1:1p36.22
likely 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
GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1 copy number loss not provided [RCV000846372] Chr1:10246640..12841900 [GRCh37]
Chr1:1p36.22-36.21
uncertain significance
NC_000001.11:g.(?_11012634)_(11934865_?)del deletion Atrial fibrillation, familial, 6 [RCV001031444] Chr1:11072691..11994922 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh37/hg19 1p36.22(chr1:11086990-11429365)x3 copy number gain not provided [RCV001005067] Chr1:11086990..11429365 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1 copy number loss See cases [RCV001194542] Chr1:11053101..11336968 [GRCh37]
Chr1:1p36.22
likely pathogenic
GRCh37/hg19 1p36.22(chr1:10908411-11158092)x3 copy number gain not provided [RCV001005066] Chr1:10908411..11158092 [GRCh37]
Chr1:1p36.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11296 AgrOrtholog
COSMIC SRM COSMIC
Ensembl Genes ENSG00000116649 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000366156 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000465687 UniProtKB/TrEMBL
  ENSP00000465966 UniProtKB/TrEMBL
  ENSP00000467669 UniProtKB/TrEMBL
  ENSP00000468760 UniProtKB/TrEMBL
Ensembl Transcript ENST00000376957 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000459997 UniProtKB/TrEMBL
  ENST00000465788 UniProtKB/TrEMBL
  ENST00000487300 UniProtKB/TrEMBL
  ENST00000490101 UniProtKB/TrEMBL
Gene3D-CATH 2.30.140.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116649 GTEx
HGNC ID HGNC:11296 ENTREZGENE
Human Proteome Map SRM Human Proteome Map
InterPro PABS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PABS_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spermi_synthase UniProtKB/Swiss-Prot
  Spermi_synthase_euk UniProtKB/Swiss-Prot
  Spermidine_synt_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spermidine_synt_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6723 UniProtKB/Swiss-Prot
NCBI Gene 6723 ENTREZGENE
OMIM 182891 OMIM
Pfam Spermine_synt_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36120 PharmGKB
PIRSF Spermidine_synth UniProtKB/Swiss-Prot
PROSITE PABS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PABS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs speE UniProtKB/Swiss-Prot
UniGene Hs.76244 ENTREZGENE
UniProt K7EKM4_HUMAN UniProtKB/TrEMBL
  K7EL89_HUMAN UniProtKB/TrEMBL
  K7EQ47_HUMAN UniProtKB/TrEMBL
  K7ESL0_HUMAN UniProtKB/TrEMBL
  P19623 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B1AKP9 UniProtKB/Swiss-Prot
  Q15511 UniProtKB/Swiss-Prot