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

Identity

Alias (NCBI)HARP
HHARP
HGNC (Hugo) SMARCAL1
HGNC Alias symbHHARP
HARP
HGNC Alias nameHepA-related protein
 ATP-driven annealing helicase
LocusID (NCBI) 50485
Atlas_Id 43493
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 216412484 and ends at 216483051 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SMARCAL1 (2q35)::MBP (18q23)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)SMARCAL1   11102
LRG (Locus Reference Genomic)LRG_108
Cards
Entrez_Gene (NCBI)SMARCAL1    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
AliasesHARP; HHARP
GeneCards (Weizmann)SMARCAL1
Ensembl hg19 (Hinxton)ENSG00000138375 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138375 [Gene_View]  ENSG00000138375 [Sequence]  chr2:216412484-216483051 [Contig_View]  SMARCAL1 [Vega]
ICGC DataPortalENSG00000138375
TCGA cBioPortalSMARCAL1
AceView (NCBI)SMARCAL1
Genatlas (Paris)SMARCAL1
SOURCE (Princeton)SMARCAL1
Genetics Home Reference (NIH)SMARCAL1
Genomic and cartography
GoldenPath hg38 (UCSC)SMARCAL1  -     chr2:216412484-216483051 +  2q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMARCAL1  -     2q35   [Description]    (hg19-Feb_2009)
GoldenPathSMARCAL1 - 2q35 [CytoView hg19]  SMARCAL1 - 2q35 [CytoView hg38]
ImmunoBaseENSG00000138375
Genome Data Viewer NCBISMARCAL1 [Mapview hg19]  
OMIM242900   606622   
Gene and transcription
Genbank (Entrez)AF082179 AF432223 AI701066 AK000117 AK023780
RefSeq transcript (Entrez)NM_001127207 NM_014140
Consensus coding sequences : CCDS (NCBI)SMARCAL1
Gene ExpressionSMARCAL1 [ NCBI-GEO ]   SMARCAL1 [ EBI - ARRAY_EXPRESS ]   SMARCAL1 [ SEEK ]   SMARCAL1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMARCAL1 [ Firebrowse - Broad ]
GenevisibleExpression of SMARCAL1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50485
GTEX Portal (Tissue expression)SMARCAL1
Human Protein AtlasENSG00000138375-SMARCAL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZC9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZC9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZC9
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ9NZC9
Domaine pattern : Prosite (Expaxy)HARP (PS51467)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)HARP(SMARCAL1)    HARP_dom    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    SNF2-like_sf    SNF2_N   
Domain families : Pfam (Sanger)HARP (PF07443)    Helicase_C (PF00271)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam07443    pfam00271    pfam00176   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)SMARCAL1
PDB (RSDB)4MQV   
PDB Europe4MQV   
PDB (PDBSum)4MQV   
PDB (IMB)4MQV   
Structural Biology KnowledgeBase4MQV   
SCOP (Structural Classification of Proteins)4MQV   
CATH (Classification of proteins structures)4MQV   
SuperfamilyQ9NZC9
AlphaFold pdb e-kbQ9NZC9   
Human Protein Atlas [tissue]ENSG00000138375-SMARCAL1 [tissue]
HPRD05969
Protein Interaction databases
DIP (DOE-UCLA)Q9NZC9
IntAct (EBI)Q9NZC9
BioGRIDSMARCAL1
STRING (EMBL)SMARCAL1
ZODIACSMARCAL1
Ontologies - Pathways
QuickGOQ9NZC9
Ontology : AmiGOhelicase activity  protein binding  ATP binding  nucleus  nucleoplasm  DNA repair  double-strand break repair via nonhomologous end joining  regulation of transcription by RNA polymerase II  cellular response to DNA damage stimulus  hydrolase activity  replication fork processing  replication fork processing  replication fork processing  site of double-strand break  annealing helicase activity  annealing helicase activity  nuclear replication fork  replication fork protection  nucleosome-dependent ATPase activity  t-circle formation  
Ontology : EGO-EBIhelicase activity  protein binding  ATP binding  nucleus  nucleoplasm  DNA repair  double-strand break repair via nonhomologous end joining  regulation of transcription by RNA polymerase II  cellular response to DNA damage stimulus  hydrolase activity  replication fork processing  replication fork processing  replication fork processing  site of double-strand break  annealing helicase activity  annealing helicase activity  nuclear replication fork  replication fork protection  nucleosome-dependent ATPase activity  t-circle formation  
NDEx NetworkSMARCAL1
Atlas of Cancer Signalling NetworkSMARCAL1
Wikipedia pathwaysSMARCAL1
Orthology - Evolution
OrthoDB50485
GeneTree (enSembl)ENSG00000138375
Phylogenetic Trees/Animal Genes : TreeFamSMARCAL1
Homologs : HomoloGeneSMARCAL1
Homology/Alignments : Family Browser (UCSC)SMARCAL1
Gene fusions - Rearrangements
Fusion : QuiverSMARCAL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMARCAL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMARCAL1
dbVarSMARCAL1
ClinVarSMARCAL1
MonarchSMARCAL1
1000_GenomesSMARCAL1 
Exome Variant ServerSMARCAL1
GNOMAD BrowserENSG00000138375
Varsome BrowserSMARCAL1
ACMGSMARCAL1 variants
VarityQ9NZC9
Genomic Variants (DGV)SMARCAL1 [DGVbeta]
DECIPHERSMARCAL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMARCAL1 
Mutations
ICGC Data PortalSMARCAL1 
TCGA Data PortalSMARCAL1 
Broad Tumor PortalSMARCAL1
OASIS PortalSMARCAL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMARCAL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSMARCAL1
Mutations and Diseases : HGMDSMARCAL1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSMARCAL1
DgiDB (Drug Gene Interaction Database)SMARCAL1
DoCM (Curated mutations)SMARCAL1
CIViC (Clinical Interpretations of Variants in Cancer)SMARCAL1
Cancer3DSMARCAL1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM242900    606622   
Orphanet1812   
DisGeNETSMARCAL1
MedgenSMARCAL1
Genetic Testing Registry SMARCAL1
NextProtQ9NZC9 [Medical]
GENETestsSMARCAL1
Target ValidationSMARCAL1
Huge Navigator SMARCAL1 [HugePedia]
ClinGenSMARCAL1
Clinical trials, drugs, therapy
MyCancerGenomeSMARCAL1
Protein Interactions : CTDSMARCAL1
Pharm GKB GenePA35952
PharosQ9NZC9
Clinical trialSMARCAL1
Miscellaneous
canSAR (ICR)SMARCAL1
HarmonizomeSMARCAL1
ARCHS4SMARCAL1
DataMed IndexSMARCAL1
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSMARCAL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:34:30 CET 2022

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