SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1) - Rat Genome Database

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Gene: SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1) Sus scrofa
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Symbol: SMARCAL1
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
RGD ID: 14140935
Description: ENCODES a protein that exhibits ATP binding (inferred); ATP-dependent activity, acting on DNA (inferred); ATP-dependent DNA/DNA annealing activity (inferred); INVOLVED IN DNA damage response (inferred); double-strand break repair via nonhomologous end joining (inferred); regulation of transcription by RNA polymerase II (inferred); ASSOCIATED WITH atrioventricular septal defect (ortholog); atypical hemolytic-uremic syndrome (ortholog); Dwarfism (ortholog); FOUND IN DNA replication factor A complex (inferred); nucleoplasm (inferred); nucleus (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: Sscrofa11.1 - Pig Sscrofa11.1 Assembly
Position:
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15118,627,497 - 118,688,396 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115118,627,734 - 118,688,005 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215131,503,125 - 131,506,635 (+)NCBISscrofa10.2Sscrofa10.2susScr3
JBrowse: View Region in Genome Browser (JBrowse)
Model


1 to 14 of 14 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SMARCAL1Pigatrioventricular septal defect  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: AVC DEFECTClinVarPMID:11799392 more ...
SMARCAL1Pigatypical hemolytic-uremic syndrome  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Atypical hemolytic-uremic syndromeClinVarPMID:28492532 and PMID:28844315
SMARCAL1PigDwarfism  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Short statureClinVarPMID:11799392 more ...
SMARCAL1Pigfocal segmental glomerulosclerosis  ISOSMARCAL1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:11799392 more ...
SMARCAL1Pigfocal segmental glomerulosclerosis 1  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Focal sclerosis with hyalinosisClinVarPMID:11799392 more ...
SMARCAL1Piggenetic disease  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868 more ...
SMARCAL1Pigkidney disease  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: renal diseaseClinVarPMID:25741868 and PMID:28492532
SMARCAL1Pigmicrocephaly  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital microcephalyClinVarPMID:11799392 more ...
SMARCAL1Pignephrotic syndrome  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Nephrotic syndromeClinVarPMID:11799392 more ...
SMARCAL1Pignephrotic syndrome type 2  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Steroid-resistant nephrotic syndromeClinVarPMID:11799392 more ...
SMARCAL1PigNeurodevelopmental Disorders  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Neurodevelopmental disorderClinVarPMID:25741868
SMARCAL1Pigprimary immunodeficiency disease  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Inherited Immunodeficiency DiseasesClinVarPMID:11799392 more ...
SMARCAL1Pigprimary microcephaly  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Primary microcephalyClinVarPMID:11799392 more ...
SMARCAL1PigSchimke immuno-osseous dysplasia  ISOSMARCAL1 (Homo sapiens)8554872ClinVar Annotator: match by term: Schimke immuno-osseous dysplasiaClinVarPMID:11799392 more ...
1 to 14 of 14 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SMARCAL1PigSchimke immuno-osseous dysplasia  ISOSMARCAL1 (Homo sapiens)7240710 OMIM 


Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SMARCAL1PigDNA damage response involved_inIEAUniProtKB:Q9NZC9 and ensembl:ENSP00000349823150520179 EnsemblGO_REF:0000107
SMARCAL1PigDNA repair involved_inIBAFB:FBgn0031655 more ...150520179 GO_CentralGO_REF:0000033
SMARCAL1Pigdouble-strand break repair via nonhomologous end joining involved_inIEAUniProtKB:Q9NZC9 and ensembl:ENSP00000349823150520179 EnsemblGO_REF:0000107
SMARCAL1Pigregulation of transcription by RNA polymerase II involved_inIEAUniProtKB:Q9NZC9 and ensembl:ENSP00000349823150520179 EnsemblGO_REF:0000107
SMARCAL1Pigreplication fork processing involved_inIBAPANTHER:PTN002908525 more ...150520179 GO_CentralGO_REF:0000033
SMARCAL1Pigreplication fork processing involved_inIEAUniProtKB:Q9NZC9 and ensembl:ENSP00000349823150520179 EnsemblGO_REF:0000107

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SMARCAL1PigDNA replication factor A complex located_inIEAUniProtKB:Q9NZC9 and ensembl:ENSP00000349823150520179 EnsemblGO_REF:0000107
SMARCAL1Pignuclear replication fork is_active_inIBAPANTHER:PTN002244927 more ...150520179 GO_CentralGO_REF:0000033
SMARCAL1Pignucleoplasm located_inIEAUniProtKB:Q9NZC9 and ensembl:ENSP00000349823150520179 EnsemblGO_REF:0000107
SMARCAL1Pignucleus located_inIEAUniProtKB-SubCell:SL-0191150520179 UniProtGO_REF:0000044
SMARCAL1Pignucleus located_inIEAUniProtKB:Q9NZC9 and ensembl:ENSP00000349823150520179 EnsemblGO_REF:0000107
SMARCAL1Pigsite of double-strand break located_inIEAUniProtKB:Q9NZC9 and ensembl:ENSP00000349823150520179 EnsemblGO_REF:0000107

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SMARCAL1PigATP binding enablesIEAUniProtKB-KW:KW-0067150520179 UniProtGO_REF:0000043
SMARCAL1PigATP binding enablesIEAInterPro:IPR000330150520179 InterProGO_REF:0000002
SMARCAL1PigATP-dependent activity, acting on DNA enablesIEAUniProtKB:Q8BJL0 and ensembl:ENSMUSP00000047589150520179 EnsemblGO_REF:0000107
SMARCAL1PigATP-dependent DNA/DNA annealing activity enablesIEAUniProtKB:Q9NZC9 and ensembl:ENSP00000349823150520179 EnsemblGO_REF:0000107
SMARCAL1Pighelicase activity enablesIEAUniProtKB-KW:KW-0347150520179 UniProtGO_REF:0000043
SMARCAL1Pighydrolase activity enablesIEAUniProtKB-KW:KW-0378150520179 UniProtGO_REF:0000043
SMARCAL1Pignucleotide binding enablesIEAUniProtKB-KW:KW-0547150520179 UniProtGO_REF:0000043
SMARCAL1Pigprotein binding enablesISOUniProtKB:P159279068941 PMID:19793862 more ...IntActPMID:19793862 more ...

PMID:14681463   PMID:22301074   PMID:30032202  



SMARCAL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15118,627,497 - 118,688,396 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115118,627,734 - 118,688,005 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215131,503,125 - 131,506,635 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SMARCAL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382216,412,484 - 216,483,053 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2216,412,383 - 216,483,053 (+)EnsemblGRCh38hg38GRCh38
GRCh372217,277,207 - 217,347,776 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362216,986,820 - 217,056,021 (+)NCBINCBI36Build 36hg18NCBI36
Build 342217,104,083 - 217,173,278NCBI
Celera2211,045,111 - 211,115,648 (+)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2209,131,595 - 209,202,094 (+)NCBIHuRef
CHM1_12217,282,680 - 217,353,309 (+)NCBICHM1_1
T2T-CHM13v2.02216,894,907 - 216,965,465 (+)NCBIT2T-CHM13v2.0
Smarcal1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39172,575,593 - 72,675,949 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl172,622,410 - 72,672,293 (+)EnsemblGRCm39 Ensembl
GRCm38172,536,695 - 72,636,790 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl172,583,251 - 72,633,134 (+)EnsemblGRCm38mm10GRCm38
MGSCv37172,629,825 - 72,683,364 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36172,516,478 - 72,566,341 (+)NCBIMGSCv36mm8
Celera173,151,284 - 73,205,338 (+)NCBICelera
Cytogenetic Map1C3NCBI
cM Map136.72NCBI
Smarcal1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8981,689,446 - 81,735,406 (+)NCBIGRCr8
mRatBN7.2974,239,718 - 74,286,156 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl974,240,241 - 74,286,146 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx982,695,787 - 82,741,329 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0987,824,678 - 87,870,214 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0986,211,255 - 86,256,747 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0979,943,775 - 79,990,230 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl979,944,132 - 79,990,229 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0979,716,012 - 79,762,216 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4971,780,870 - 71,827,780 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1971,930,360 - 71,974,752 (+)NCBI
Celera971,834,400 - 71,880,797 (+)NCBICelera
Cytogenetic Map9q33NCBI
Smarcal1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545316,719,931 - 16,784,709 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545316,724,286 - 16,784,129 (-)NCBIChiLan1.0ChiLan1.0
SMARCAL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213119,040,341 - 119,111,253 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B119,055,327 - 119,126,253 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B103,672,934 - 103,743,802 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B222,276,294 - 222,347,258 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B222,276,353 - 222,347,258 (+)Ensemblpanpan1.1panPan2
SMARCAL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13723,364,941 - 23,425,206 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3723,367,220 - 23,419,248 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3724,193,550 - 24,253,982 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03723,392,255 - 23,452,837 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3723,392,945 - 23,447,926 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13723,277,174 - 23,331,540 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03723,229,412 - 23,289,770 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03723,247,796 - 23,308,267 (+)NCBIUU_Cfam_GSD_1.0
Smarcal1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303171,702,084 - 171,797,210 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936586828,650 - 888,047 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936586828,661 - 887,988 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMARCAL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110102,253,187 - 102,319,356 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10102,255,453 - 102,319,330 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604097,083,733 - 97,149,570 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smarcal1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248238,644,826 - 8,706,591 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248238,645,340 - 8,708,039 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in SMARCAL1
1381 total Variants



alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
hemolymphoid system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
10 4 23 3 2 5 14 12 23 3 6 3



Ensembl Acc Id: ENSSSCT00000055777   ⟹   ENSSSCP00000051674
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl15118,629,238 - 118,687,940 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000092984   ⟹   ENSSSCP00000075788
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl15118,629,238 - 118,688,277 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000095241   ⟹   ENSSSCP00000075734
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl15118,629,238 - 118,688,397 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000099096   ⟹   ENSSSCP00000079851
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl15118,629,238 - 118,688,397 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000100616   ⟹   ENSSSCP00000079578
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl15118,629,238 - 118,688,277 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000101965   ⟹   ENSSSCP00000078653
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl15118,629,238 - 118,688,397 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000103179   ⟹   ENSSSCP00000077918
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl15118,629,238 - 118,688,001 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000105212   ⟹   ENSSSCP00000078594
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl15118,629,238 - 118,683,874 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000105577   ⟹   ENSSSCP00000079033
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl15118,629,238 - 118,688,277 (+)Ensembl
Ensembl Acc Id: ENSSSCT00000106589   ⟹   ENSSSCP00000079237
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.1 Ensembl15118,627,497 - 118,688,396 (+)Ensembl
RefSeq Acc Id: XM_021076244   ⟹   XP_020931903
Type: CODING
Position:
Pig AssemblyChrPosition (strand)Source
Sscrofa11.115118,627,734 - 118,688,005 (+)NCBI
Sequence:
1 to 5 of 11 rows
1 to 5 of 11 rows
RefSeq Acc Id: XP_020931903   ⟸   XM_021076244
- UniProtKB: A0A480VGI8 (UniProtKB/TrEMBL),   A0A8D0W4R8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSSSCP00000051674   ⟸   ENSSSCT00000055777
Ensembl Acc Id: ENSSSCP00000079033   ⟸   ENSSSCT00000105577
Ensembl Acc Id: ENSSSCP00000075734   ⟸   ENSSSCT00000095241
Ensembl Acc Id: ENSSSCP00000079237   ⟸   ENSSSCT00000106589


1 to 40 of 84 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSSSCG00000035501 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSSSCG00015035899 UniProtKB/TrEMBL
  ENSSSCG00030023553 UniProtKB/TrEMBL
  ENSSSCG00035026478 UniProtKB/TrEMBL
  ENSSSCG00045007578 UniProtKB/TrEMBL
  ENSSSCG00055017448 UniProtKB/TrEMBL
  ENSSSCG00070018221 UniProtKB/TrEMBL
Ensembl Transcript ENSSSCT00000055777 ENTREZGENE
  ENSSSCT00000055777.3 UniProtKB/TrEMBL
  ENSSSCT00000092984.1 UniProtKB/TrEMBL
  ENSSSCT00000095241.1 UniProtKB/TrEMBL
  ENSSSCT00000099096.1 UniProtKB/TrEMBL
  ENSSSCT00000100616.1 UniProtKB/TrEMBL
  ENSSSCT00000101965.1 UniProtKB/TrEMBL
  ENSSSCT00000103179.1 UniProtKB/TrEMBL
  ENSSSCT00000105212.1 UniProtKB/TrEMBL
  ENSSSCT00000105577.1 UniProtKB/TrEMBL
  ENSSSCT00000106589.1 UniProtKB/TrEMBL
  ENSSSCT00015047580.1 UniProtKB/TrEMBL
  ENSSSCT00015047679.1 UniProtKB/TrEMBL
  ENSSSCT00015047756.1 UniProtKB/TrEMBL
  ENSSSCT00030032752.1 UniProtKB/TrEMBL
  ENSSSCT00030032766.1 UniProtKB/TrEMBL
  ENSSSCT00030032775.1 UniProtKB/TrEMBL
  ENSSSCT00030032805.1 UniProtKB/TrEMBL
  ENSSSCT00035034944.1 UniProtKB/TrEMBL
  ENSSSCT00045012712.1 UniProtKB/TrEMBL
  ENSSSCT00045012776.1 UniProtKB/TrEMBL
  ENSSSCT00045012833.1 UniProtKB/TrEMBL
  ENSSSCT00045012931.1 UniProtKB/TrEMBL
  ENSSSCT00055034245.1 UniProtKB/TrEMBL
  ENSSSCT00055034360.1 UniProtKB/TrEMBL
  ENSSSCT00055034507.1 UniProtKB/TrEMBL
  ENSSSCT00055034695.1 UniProtKB/TrEMBL
  ENSSSCT00070036018.1 UniProtKB/TrEMBL
  ENSSSCT00070036036.1 UniProtKB/TrEMBL
  ENSSSCT00070036038.1 UniProtKB/TrEMBL
  ENSSSCT00070036045.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10810 UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/TrEMBL
1 to 40 of 84 rows