SEPTIN1 (septin 1) - Rat Genome Database

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Advanced Search (OLGA)
Gene: SEPTIN1 (septin 1) Homo sapiens
Analyze
Symbol: SEPTIN1
Name: septin 1
RGD ID: 1316277
HGNC Page HGNC:2879
Description: Enables identical protein binding activity. Predicted to be involved in cytoskeleton-dependent cytokinesis; protein localization; and regulation of exocytosis. Predicted to act upstream of or within meiotic metaphase chromosome alignment and spindle assembly involved in female meiosis. Located in midbody.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DIFF6; differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase); LARP; MGC20394; peanut-like protein 3; PNUTL3; SEP1; SEPT1; septin-1; serologically defined breast cancer antigen NY-BR-24
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
GRCh381630,378,135 - 30,382,815 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,378,135 - 30,395,991 (-)EnsemblGRCh38hg38GRCh38
GRCh371630,389,456 - 30,394,136 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,296,957 - 30,301,672 (-)NCBINCBI36Build 36hg18NCBI36
Build 341630,296,957 - 30,301,672NCBI
Celera1629,904,429 - 29,909,188 (+)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,951,218 - 27,955,945 (-)NCBIHuRef
CHM1_11631,706,508 - 31,711,226 (-)NCBICHM1_1
T2T-CHM13v2.01630,764,338 - 30,769,019 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2174398   PMID:8590280   PMID:8889548   PMID:9811347   PMID:12475938   PMID:12477932   PMID:12747765   PMID:15489334   PMID:15915442   PMID:16179162   PMID:16189514   PMID:17912427  
PMID:17967425   PMID:19799413   PMID:20136629   PMID:20236126   PMID:21082023   PMID:21516116   PMID:21809895   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22145905   PMID:23087102  
PMID:23314748   PMID:24722188   PMID:25416956   PMID:26186194   PMID:26871637   PMID:26972000   PMID:28514442   PMID:30021884   PMID:30709970   PMID:31515488   PMID:32296183   PMID:33660365  
PMID:33961781   PMID:36774506   PMID:37071682   PMID:39358380  


Genomics

Comparative Map Data
SEPTIN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381630,378,135 - 30,382,815 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1630,378,135 - 30,395,991 (-)EnsemblGRCh38hg38GRCh38
GRCh371630,389,456 - 30,394,136 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361630,296,957 - 30,301,672 (-)NCBINCBI36Build 36hg18NCBI36
Build 341630,296,957 - 30,301,672NCBI
Celera1629,904,429 - 29,909,188 (+)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1627,951,218 - 27,955,945 (-)NCBIHuRef
CHM1_11631,706,508 - 31,711,226 (-)NCBICHM1_1
T2T-CHM13v2.01630,764,338 - 30,769,019 (-)NCBIT2T-CHM13v2.0
Septin1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397126,811,881 - 126,832,157 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7126,813,619 - 126,832,302 (-)EnsemblGRCm39 Ensembl
GRCm387127,212,709 - 127,232,985 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7127,214,447 - 127,233,130 (-)EnsemblGRCm38mm10GRCm38
MGSCv377134,357,956 - 134,361,959 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367127,005,598 - 127,009,601 (-)NCBIMGSCv36mm8
Celera7127,063,210 - 127,067,214 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.39NCBI
Septin1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81191,263,200 - 191,267,086 (-)NCBIGRCr8
mRatBN7.21181,832,700 - 181,836,566 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1181,832,701 - 181,836,566 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1190,183,588 - 190,187,454 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01197,369,676 - 197,373,542 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01190,038,210 - 190,042,079 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01198,658,744 - 198,662,610 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1198,658,745 - 198,662,610 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01205,652,475 - 205,656,341 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41186,474,714 - 186,478,580 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11186,624,595 - 186,628,461 (-)NCBI
Celera1179,484,367 - 179,488,232 (-)NCBICelera
Cytogenetic Map1q37NCBI
Septin1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554937,304,472 - 7,312,185 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554937,304,472 - 7,309,022 (-)NCBIChiLan1.0ChiLan1.0
SEPTIN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21833,583,330 - 33,593,399 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11638,384,787 - 38,402,163 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01624,586,711 - 24,591,587 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11630,751,869 - 30,755,133 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1630,750,665 - 30,755,345 (-)Ensemblpanpan1.1panPan2
SEPTIN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1617,714,929 - 17,718,972 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl617,715,408 - 17,719,159 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha619,289,544 - 19,293,553 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0617,846,389 - 17,850,406 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl617,846,585 - 17,850,402 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1617,646,593 - 17,650,610 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0617,562,034 - 17,566,041 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0617,877,697 - 17,881,714 (+)NCBIUU_Cfam_GSD_1.0
Septin1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344124,749,372 - 124,762,085 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650112,843,820 - 12,851,032 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650112,847,236 - 12,852,963 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEPTIN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,924,651 - 17,937,947 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,924,651 - 17,937,949 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2318,359,300 - 18,376,616 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SEPTIN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1527,055,239 - 27,059,749 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl527,055,538 - 27,059,723 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660682,461,126 - 2,465,801 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Septin1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478213,550,185 - 13,553,480 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478213,549,862 - 13,553,557 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SEPTIN1
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3 copy number gain See cases [RCV000053863] Chr16:30359229..30570499 [GRCh38]
Chr16:30370550..30581820 [GRCh37]
Chr16:30278051..30489321 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1 copy number loss See cases [RCV000135589] Chr16:29581462..30691912 [GRCh38]
Chr16:29592783..30703233 [GRCh37]
Chr16:29500284..30610734 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3 copy number gain See cases [RCV000143385] Chr16:29892937..30433124 [GRCh38]
Chr16:29904258..30444445 [GRCh37]
Chr16:29811759..30351946 [NCBI36]
Chr16:16p11.2		 pathogenic|likely benign
GRCh37/hg19 16p11.2(chr16:30386180-30390806)x5 copy number gain Breast ductal adenocarcinoma [RCV000207214] Chr16:30386180..30390806 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3 copy number gain Breast ductal adenocarcinoma [RCV000207028] Chr16:30391304..31122666 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 copy number loss See cases [RCV000511271] Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2		 pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:30376269-30420851)x1 copy number loss not provided [RCV000751645] Chr16:30376269..30420851 [GRCh37]
Chr16:16p11.2		 benign
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 copy number gain not provided [RCV001258619] Chr16:30350747..31905898 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1 copy number loss Distal 16p11.2 microdeletion syndrome [RCV001801174] Chr16:29974415..30596982 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3 copy number gain Chromosome 16p11.2 duplication syndrome [RCV001801218] Chr16:29808153..30750270 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.9:g.(?_28889993)_(31202759_?)del deletion Dilated Cardiomyopathy, Dominant [RCV004582801] Chr16:28889993..31202759 [GRCh37]
Chr16:16p11.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3480
Count of miRNA genes:905
Interacting mature miRNAs:1120
Transcripts:ENST00000321367, ENST00000562152, ENST00000563743, ENST00000563957, ENST00000566517, ENST00000567783, ENST00000568577, ENST00000570039, ENST00000571393, ENST00000572252, ENST00000573615
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597515740GWAS1611814_Hsmoking initiation QTL GWAS1611814 (human)2e-10smoking initiation163038077830380779Human

Markers in Region
G30670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,389,161 - 30,389,295UniSTSGRCh37
Build 361630,296,662 - 30,296,796RGDNCBI36
Celera1629,909,349 - 29,909,483RGD
Cytogenetic Map16p11.1UniSTS
Cytogenetic Map16p11.2UniSTS
HuRef1627,950,925 - 27,951,059UniSTS
RH66827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371630,389,116 - 30,389,295UniSTSGRCh37
Build 361630,296,617 - 30,296,796RGDNCBI36
Celera1629,909,349 - 29,909,528RGD
Cytogenetic Map16p11.1UniSTS
Cytogenetic Map16p11.2UniSTS
HuRef1627,950,880 - 27,951,059UniSTS


Expression

RNA-SEQ Expression

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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1204 2437 2788 2246 4943 1723 2347 4 624 1951 464 2268 7288 6457 53 3709 1 849 1734 1615 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC116348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC127457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF085235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF308288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY034176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM663465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ072902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000321367   ⟹   ENSP00000324511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,378,135 - 30,382,561 (-)Ensembl
Ensembl Acc Id: ENST00000562152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,381,843 - 30,382,813 (-)Ensembl
Ensembl Acc Id: ENST00000563743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,381,495 - 30,382,577 (-)Ensembl
Ensembl Acc Id: ENST00000563957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,378,137 - 30,382,813 (-)Ensembl
Ensembl Acc Id: ENST00000566517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,378,610 - 30,382,431 (-)Ensembl
Ensembl Acc Id: ENST00000567783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,382,822 - 30,394,903 (-)Ensembl
Ensembl Acc Id: ENST00000568577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,379,489 - 30,382,813 (-)Ensembl
Ensembl Acc Id: ENST00000570039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,382,752 - 30,395,991 (-)Ensembl
Ensembl Acc Id: ENST00000572252   ⟹   ENSP00000459780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,378,155 - 30,382,547 (-)Ensembl
Ensembl Acc Id: ENST00000573615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,378,184 - 30,382,370 (-)Ensembl
Ensembl Acc Id: ENST00000652617   ⟹   ENSP00000498586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1630,378,135 - 30,382,815 (-)Ensembl
RefSeq Acc Id: NM_001365977   ⟹   NP_001352906
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,378,135 - 30,382,561 (-)NCBI
T2T-CHM13v2.01630,764,338 - 30,768,765 (-)NCBI
Sequence:
RefSeq Acc Id: NM_052838   ⟹   NP_443070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381630,378,135 - 30,382,815 (-)NCBI
GRCh371630,389,454 - 30,394,171 (-)NCBI
Build 361630,296,957 - 30,301,672 (-)NCBI Archive
HuRef1627,951,218 - 27,955,945 (-)NCBI
CHM1_11631,706,508 - 31,711,226 (-)NCBI
T2T-CHM13v2.01630,764,338 - 30,769,019 (-)NCBI
Sequence:
RefSeq Acc Id: NP_443070   ⟸   NM_052838
- UniProtKB: Q96EL4 (UniProtKB/Swiss-Prot),   Q8WYJ6 (UniProtKB/Swiss-Prot),   Q8NEZ1 (UniProtKB/Swiss-Prot),   Q658T1 (UniProtKB/Swiss-Prot),   B4DVE6 (UniProtKB/Swiss-Prot),   Q9H285 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001352906   ⟸   NM_001365977
- UniProtKB: Q96EL4 (UniProtKB/Swiss-Prot),   Q8WYJ6 (UniProtKB/Swiss-Prot),   Q8NEZ1 (UniProtKB/Swiss-Prot),   Q658T1 (UniProtKB/Swiss-Prot),   B4DVE6 (UniProtKB/Swiss-Prot),   Q9H285 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSP00000324511   ⟸   ENST00000321367
Ensembl Acc Id: ENSP00000459780   ⟸   ENST00000572252
Ensembl Acc Id: ENSP00000498586   ⟸   ENST00000652617
Protein Domains
Septin-type G

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WYJ6-F1-model_v2 AlphaFold Q8WYJ6 1-372 view protein structure

Promoters
RGD ID:6793064
Promoter ID:HG_KWN:23535
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000395109,   OTTHUMT00000109636,   UC002DXX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361630,301,226 - 30,301,726 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2879 AgrOrtholog
COSMIC SEPTIN1 COSMIC
Ensembl Genes ENSG00000180096 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000321367 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000321367.8 UniProtKB/Swiss-Prot
  ENST00000572252.6 UniProtKB/TrEMBL
  ENST00000652617 ENTREZGENE
  ENST00000652617.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000180096 GTEx
HGNC ID HGNC:2879 ENTREZGENE
Human Proteome Map SEPTIN1 Human Proteome Map
InterPro G_SEPTIN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1731 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1731 ENTREZGENE
OMIM 612897 OMIM
PANTHER SEPTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24354 PharmGKB
PIRSF Septin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_SEPTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DVE6 ENTREZGENE
  I3L2M1_HUMAN UniProtKB/TrEMBL
  J3KNL2_HUMAN UniProtKB/TrEMBL
  Q658T1 ENTREZGENE
  Q8NEZ1 ENTREZGENE
  Q8WYJ6 ENTREZGENE
  Q96EL4 ENTREZGENE
  Q9H285 ENTREZGENE
  SEPT1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DVE6 UniProtKB/Swiss-Prot
  Q658T1 UniProtKB/Swiss-Prot
  Q8NEZ1 UniProtKB/Swiss-Prot
  Q96EL4 UniProtKB/Swiss-Prot
  Q9H285 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-09 SEPTIN1  septin 1  SEPT1  septin 1  Symbol and/or name change 5135510 APPROVED