STRIT1 (small transmembrane regulator of ion transport 1) - Rat Genome Database

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Gene: STRIT1 (small transmembrane regulator of ion transport 1) Homo sapiens
Analyze
Symbol: STRIT1
Name: small transmembrane regulator of ion transport 1
RGD ID: 14394521
HGNC Page HGNC:52297
Description: Predicted to enable enzyme activator activity. Predicted to be involved in regulation of calcium ion transport and regulation of striated muscle contraction. Predicted to act upstream of or within positive regulation of ATPase-coupled calcium transmembrane transporter activity and positive regulation of calcium ion import. Predicted to be located in sarcoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DWARF open reading frame; DWORF; Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF; SERCA regulator DWORF
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Green Monkey
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
GRCh383155,290,227 - 155,293,683 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3155,290,227 - 155,293,683 (-)EnsemblGRCh38hg38GRCh38
GRCh373155,008,016 - 155,011,472 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3q25.2NCBI
HuRef3152,402,230 - 152,405,698 (-)NCBIHuRef
CHM1_13154,971,058 - 154,974,543 (-)NCBICHM1_1
T2T-CHM13v2.03158,064,207 - 158,067,663 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References
Additional References at PubMed
PMID:26816378   PMID:27071812   PMID:28290465   PMID:28436536   PMID:32296183   PMID:33581112   PMID:34075877   PMID:35605666   PMID:36949045  


Genomics

Comparative Map Data
STRIT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383155,290,227 - 155,293,683 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3155,290,227 - 155,293,683 (-)EnsemblGRCh38hg38GRCh38
GRCh373155,008,016 - 155,011,472 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3q25.2NCBI
HuRef3152,402,230 - 152,405,698 (-)NCBIHuRef
CHM1_13154,971,058 - 154,974,543 (-)NCBICHM1_1
T2T-CHM13v2.03158,064,207 - 158,067,663 (-)NCBIT2T-CHM13v2.0
Strit1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39363,388,516 - 63,391,327 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl363,388,533 - 63,391,300 (-)EnsemblGRCm39 Ensembl
GRCm38363,481,095 - 63,483,906 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl363,481,112 - 63,483,879 (-)EnsemblGRCm38mm10GRCm38
Celera363,154,551 - 63,157,363 (-)NCBICelera
Cytogenetic Map3E1NCBI
Strit1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82150,084,857 - 150,087,721 (-)NCBIGRCr8
mRatBN7.22147,935,219 - 147,938,083 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2147,935,222 - 147,938,083 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2154,629,554 - 154,632,416 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02152,679,003 - 152,681,865 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02147,311,691 - 147,314,553 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02154,030,401 - 154,033,265 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2154,030,237 - 154,033,351 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02173,418,567 - 173,421,475 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2142,221,795 - 142,224,659 (-)NCBICelera
Cytogenetic Map2q31NCBI
STRIT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22153,203,629 - 153,209,586 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13153,208,359 - 153,214,323 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03152,346,768 - 152,351,244 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13160,398,665 - 160,402,152 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3160,399,367 - 160,402,051 (-)Ensemblpanpan1.1panPan2
STRIT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12349,131,218 - 49,134,728 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2349,131,221 - 49,134,942 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2349,006,134 - 49,027,054 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02349,764,376 - 49,785,339 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2349,764,379 - 49,768,122 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12349,350,344 - 49,371,236 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02349,400,356 - 49,421,263 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02349,683,533 - 49,704,426 (-)NCBIUU_Cfam_GSD_1.0
Strit1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560287,066,687 - 87,069,867 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365192,664,278 - 2,666,850 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
STRIT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_0236660418,116,308 - 8,120,073 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0


Clinical Variants
Name Type Condition(s) Position(s) Clinical 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 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32		 pathogenic
GRCh38/hg38 3q25.2-25.31(chr3:154870557-155444826)x1 copy number loss See cases [RCV000053996] Chr3:154870557..155444826 [GRCh38]
Chr3:154588346..155162615 [GRCh37]
Chr3:156071040..156645309 [NCBI36]
Chr3:3q25.2-25.31		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:46
Count of miRNA genes:42
Interacting mature miRNAs:43
Transcripts:ENST00000489090
Prediction methods:Microtar, Miranda, Rnahybrid
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
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1031 1826 2562 1882 3807 1187 1662 401 827 249 1882 5070 4480 15 2961 631 1172 1198 159

Sequence


Ensembl Acc Id: ENST00000489090   ⟹   ENSP00000489859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3155,290,227 - 155,293,683 (-)Ensembl
RefSeq Acc Id: NM_001352129   ⟹   NP_001339058
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383155,290,227 - 155,293,683 (-)NCBI
T2T-CHM13v2.03158,064,207 - 158,067,663 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001339058 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000489859
  ENSP00000489859.1
GenBank Protein P0DN84 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001339058   ⟸   NM_001352129
- UniProtKB: P0DN84 (UniProtKB/Swiss-Prot),   A0A1B0GTW0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000489859   ⟸   ENST00000489090

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0DN84-F1-model_v2 AlphaFold P0DN84 1-35 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:52297 AgrOrtholog
COSMIC STRIT1 COSMIC
Ensembl Genes ENSG00000240045 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000489090 ENTREZGENE
  ENST00000489090.2 UniProtKB/Swiss-Prot
GTEx ENSG00000240045 GTEx
HGNC ID HGNC:52297 ENTREZGENE
Human Proteome Map STRIT1 Human Proteome Map
InterPro DWORF UniProtKB/Swiss-Prot
NCBI Gene STRIT1 ENTREZGENE
OMIM 616891 OMIM
Pfam DWORF UniProtKB/Swiss-Prot
PharmGKB PA166182673 PharmGKB
UniProt A0A1B0GTW0 ENTREZGENE
  DWORF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A1B0GTW0 UniProtKB/Swiss-Prot