ISY1 (ISY1 splicing factor homolog) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ISY1 (ISY1 splicing factor homolog) Homo sapiens
Analyze
Symbol: ISY1
Name: ISY1 splicing factor homolog
RGD ID: 1606526
HGNC Page HGNC:29201
Description: Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type catalytic step 1 spliceosome and catalytic step 2 spliceosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: fSAP33; functional spliceosome-associated protein 33; KIAA1160; pre-mRNA-splicing factor ISY1 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh383129,127,415 - 129,161,063 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3129,127,415 - 129,161,063 (-)EnsemblGRCh38hg38GRCh38
GRCh373128,846,258 - 128,879,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,330,925 - 130,362,719 (-)NCBINCBI36Build 36hg18NCBI36
Celera3127,279,847 - 127,296,403 (-)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3126,232,620 - 126,266,455 (-)NCBIHuRef
CHM1_13128,809,709 - 128,843,507 (-)NCBICHM1_1
T2T-CHM13v2.03131,872,317 - 131,905,969 (-)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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Splicing and beyond: the many faces of the Prp19 complex. Chanarat S and Strasser K, Biochim Biophys Acta. 2013 Oct;1833(10):2126-34. doi: 10.1016/j.bbamcr.2013.05.023. Epub 2013 Jun 3.
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10574461   PMID:11991638   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16103217   PMID:16159877   PMID:18029348   PMID:19490893   PMID:21873635   PMID:22365833   PMID:22658674  
PMID:22939629   PMID:24457600   PMID:24981860   PMID:25599396   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26627737   PMID:27684187   PMID:28302793   PMID:28514442   PMID:28515276  
PMID:28524877   PMID:28561026   PMID:28838205   PMID:29229926   PMID:29298432   PMID:29301961   PMID:29395067   PMID:29568061   PMID:29802200   PMID:30196744   PMID:30404004   PMID:30804502  
PMID:30884312   PMID:30890647   PMID:31091453   PMID:31753913   PMID:31887540   PMID:32296183   PMID:32393512   PMID:32416067   PMID:32513696   PMID:32744500   PMID:32814053   PMID:33001583  
PMID:33961781   PMID:34133714   PMID:34373451   PMID:35271311   PMID:35850772   PMID:35944360   PMID:36215168   PMID:36232890   PMID:36373674   PMID:36526897   PMID:37071682   PMID:37689310  
PMID:38113892  


Genomics

Comparative Map Data
ISY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383129,127,415 - 129,161,063 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3129,127,415 - 129,161,063 (-)EnsemblGRCh38hg38GRCh38
GRCh373128,846,258 - 128,879,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,330,925 - 130,362,719 (-)NCBINCBI36Build 36hg18NCBI36
Celera3127,279,847 - 127,296,403 (-)NCBICelera
Cytogenetic Map3q21.3NCBI
HuRef3126,232,620 - 126,266,455 (-)NCBIHuRef
CHM1_13128,809,709 - 128,843,507 (-)NCBICHM1_1
T2T-CHM13v2.03131,872,317 - 131,905,969 (-)NCBIT2T-CHM13v2.0
Isy1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39687,795,429 - 87,815,723 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl687,791,251 - 87,815,780 (-)EnsemblGRCm39 Ensembl
GRCm38687,818,447 - 87,838,923 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl687,814,269 - 87,838,798 (-)EnsemblGRCm38mm10GRCm38
MGSCv37687,768,441 - 87,788,753 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36687,784,088 - 87,804,400 (-)NCBIMGSCv36mm8
Celera689,755,774 - 89,776,088 (-)NCBICelera
Cytogenetic Map6D1NCBI
cM Map639.13NCBI
Isy1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84121,833,870 - 121,854,561 (-)NCBIGRCr8
mRatBN7.24120,276,535 - 120,297,227 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4120,276,292 - 120,297,188 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4125,755,473 - 125,776,233 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04121,530,265 - 121,551,018 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04120,154,502 - 120,175,256 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04119,721,659 - 119,742,349 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4119,721,660 - 119,742,349 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04184,972,994 - 184,993,684 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44122,006,785 - 122,027,475 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14122,251,266 - 122,271,956 (-)NCBI
Celera4109,237,067 - 109,257,757 (-)NCBICelera
Cytogenetic Map4q34NCBI
Isy1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542913,511,914 - 13,527,516 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542913,513,191 - 13,527,516 (-)NCBIChiLan1.0ChiLan1.0
ISY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22127,062,204 - 127,098,841 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13127,066,927 - 127,100,331 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03126,187,354 - 126,219,355 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13133,545,726 - 133,575,974 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3133,545,726 - 133,575,974 (-)Ensemblpanpan1.1panPan2
ISY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1202,945,636 - 2,972,245 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl202,945,720 - 2,972,245 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha202,982,811 - 3,008,961 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0202,966,468 - 2,993,064 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl202,966,789 - 2,996,303 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1202,686,460 - 2,712,607 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0203,009,520 - 3,035,724 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0202,973,956 - 3,000,161 (+)NCBIUU_Cfam_GSD_1.0
LOC102162880
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1371,599,237 - 71,622,840 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11371,601,737 - 71,622,835 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21379,186,720 - 79,207,558 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ISY1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12251,905,564 - 51,940,705 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2251,907,290 - 51,938,847 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041114,430,973 - 114,474,500 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Isy1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624943968,193 - 984,683 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ISY1
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3 copy number gain See cases [RCV000050795] Chr3:128601065..129182579 [GRCh38]
Chr3:128319908..128901422 [GRCh37]
Chr3:129802598..130384112 [NCBI36]
Chr3:3q21.3		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23		 uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 copy number loss See cases [RCV000142787] Chr3:127607945..133566661 [GRCh38]
Chr3:127326788..133285505 [GRCh37]
Chr3:128809478..134768195 [NCBI36]
Chr3:3q21.3-22.1		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1 copy number loss not provided [RCV000682304] Chr3:128660985..129811200 [GRCh37]
Chr3:3q21.3-22.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541925] Chr3:127966423..136853218 [GRCh37]
Chr3:3q21.3-22.3		 pathogenic
NC_000003.11:g.(?_126707437)_(130720194_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV003113323]|not provided [RCV003107782] Chr3:126707437..130720194 [GRCh37]
Chr3:3q21.3-22.1		 uncertain significance|no classifications from unflagged records
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541926] Chr3:123000000..129700000 [GRCh37]
Chr3:3q21.1-22.1		 pathogenic
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1		 pathogenic
NM_020701.4(ISY1):c.419-2186G>A single nucleotide variant not specified [RCV004297264] Chr3:129137140 [GRCh38]
Chr3:128855983 [GRCh37]
Chr3:3q21.3		 uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_020701.4(ISY1):c.419-2191C>T single nucleotide variant not specified [RCV004232224] Chr3:129137145 [GRCh38]
Chr3:128855988 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_020701.4(ISY1):c.419-2238G>C single nucleotide variant not specified [RCV004357706] Chr3:129137192 [GRCh38]
Chr3:128856035 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_020701.4(ISY1):c.419-2196T>C single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557740] Chr3:129137150 [GRCh38]
Chr3:128855993 [GRCh37]
Chr3:3q21.3		 likely benign
NM_020701.4(ISY1):c.419-2210G>A single nucleotide variant not specified [RCV004405457] Chr3:129137164 [GRCh38]
Chr3:128856007 [GRCh37]
Chr3:3q21.3		 uncertain significance
NM_020701.4(ISY1):c.587G>C (p.Arg196Pro) single nucleotide variant not specified [RCV004633292] Chr3:129134150 [GRCh38]
Chr3:128852993 [GRCh37]
Chr3:3q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3015
Count of miRNA genes:1020
Interacting mature miRNAs:1284
Transcripts:ENST00000273541, ENST00000393292, ENST00000393295, ENST00000471306, ENST00000471497, ENST00000485703, ENST00000496163
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.

Markers in Region
STS-T59511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373128,848,524 - 128,848,660UniSTSGRCh37
Build 363130,331,214 - 130,331,350RGDNCBI36
Celera3127,280,153 - 127,280,289RGD
Cytogenetic Map3q21.3UniSTS
HuRef3126,234,884 - 126,235,020UniSTS
GeneMap99-GB4 RH Map3458.7UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENST00000273541   ⟹   ENSP00000273541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,129,374 - 129,161,048 (-)Ensembl
Ensembl Acc Id: ENST00000393292   ⟹   ENSP00000376970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,130,017 - 129,161,037 (-)Ensembl
Ensembl Acc Id: ENST00000393295   ⟹   ENSP00000376973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,127,415 - 129,161,063 (-)Ensembl
Ensembl Acc Id: ENST00000471306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,129,791 - 129,130,703 (-)Ensembl
Ensembl Acc Id: ENST00000471497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,129,374 - 129,156,889 (-)Ensembl
Ensembl Acc Id: ENST00000485703   ⟹   ENSP00000422403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,134,075 - 129,161,028 (-)Ensembl
Ensembl Acc Id: ENST00000496163   ⟹   ENSP00000426416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3129,129,879 - 129,145,874 (-)Ensembl
RefSeq Acc Id: NM_001199469   ⟹   NP_001186398
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,127,415 - 129,161,063 (-)NCBI
GRCh373128,846,259 - 128,880,409 (-)NCBI
HuRef3126,232,620 - 126,266,455 (-)ENTREZGENE
CHM1_13128,809,709 - 128,843,507 (-)NCBI
T2T-CHM13v2.03131,872,317 - 131,905,969 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020701   ⟹   NP_065752
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,127,415 - 129,161,063 (-)NCBI
GRCh373128,846,259 - 128,880,409 (-)NCBI
Build 363130,330,925 - 130,362,719 (-)NCBI Archive
Celera3127,279,847 - 127,296,403 (-)RGD
HuRef3126,232,620 - 126,266,455 (-)ENTREZGENE
CHM1_13128,809,709 - 128,843,507 (-)NCBI
T2T-CHM13v2.03131,872,317 - 131,905,969 (-)NCBI
Sequence:
RefSeq Acc Id: NP_065752   ⟸   NM_020701
- Peptide Label: isoform 2
- UniProtKB: Q96IL2 (UniProtKB/Swiss-Prot),   Q9BT05 (UniProtKB/Swiss-Prot),   Q9ULR0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186398   ⟸   NM_001199469
- Peptide Label: isoform 1
- UniProtKB: Q9ULR0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000426416   ⟸   ENST00000496163
Ensembl Acc Id: ENSP00000273541   ⟸   ENST00000273541
Ensembl Acc Id: ENSP00000422403   ⟸   ENST00000485703
Ensembl Acc Id: ENSP00000376970   ⟸   ENST00000393292
Ensembl Acc Id: ENSP00000376973   ⟸   ENST00000393295

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULR0-F1-model_v2 AlphaFold Q9ULR0 1-285 view protein structure

Promoters
RGD ID:6865626
Promoter ID:EPDNEW_H5978
Type:initiation region
Name:ISY1_1
Description:ISY1 splicing factor homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5979  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,161,063 - 129,161,123EPDNEW
RGD ID:6865628
Promoter ID:EPDNEW_H5979
Type:initiation region
Name:ISY1_2
Description:ISY1 splicing factor homolog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5978  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383129,161,305 - 129,161,365EPDNEW
RGD ID:6801202
Promoter ID:HG_KWN:46158
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000393304,   ENST00000393305,   ENST00000393307,   ENST00000393308,   OTTHUMT00000267849,   OTTHUMT00000267854,   UC010HSY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363130,322,936 - 130,325,287 (-)MPROMDB
RGD ID:6801018
Promoter ID:HG_KWN:46163
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:ENST00000393292,   ENST00000393295,   OTTHUMT00000267858,   OTTHUMT00000267859,   UC003ELO.1,   UC010HTA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363130,362,881 - 130,363,817 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29201 AgrOrtholog
COSMIC ISY1 COSMIC
Ensembl Genes ENSG00000240682 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000273541 ENTREZGENE
  ENST00000273541.12 UniProtKB/Swiss-Prot
  ENST00000393292.7 UniProtKB/TrEMBL
  ENST00000393295 ENTREZGENE
  ENST00000393295.8 UniProtKB/Swiss-Prot
  ENST00000485703.1 UniProtKB/TrEMBL
  ENST00000496163.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.660 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000240682 GTEx
HGNC ID HGNC:29201 ENTREZGENE
Human Proteome Map ISY1 Human Proteome Map
InterPro Helix_hairpin_bin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Isy1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Isy1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:100534599 UniProtKB/Swiss-Prot
  hsa:57461 UniProtKB/Swiss-Prot
NCBI Gene 57461 ENTREZGENE
OMIM 612764 OMIM
PANTHER PRE-MRNA-SPLICING FACTOR ISY1 HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Isy1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162392343 PharmGKB
Superfamily-SCOP SSF140102 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MVI5_HUMAN UniProtKB/TrEMBL
  D6RC18_HUMAN UniProtKB/TrEMBL
  H0YA89_HUMAN UniProtKB/TrEMBL
  ISY1_HUMAN UniProtKB/Swiss-Prot
  Q96IL2 ENTREZGENE
  Q9BT05 ENTREZGENE
  Q9ULR0 ENTREZGENE
UniProt Secondary Q96IL2 UniProtKB/Swiss-Prot
  Q9BT05 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 ISY1  ISY1 splicing factor homolog    ISY1 splicing factor homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED