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SACM1L (SAC1 like phosphatidylinositide phosphatase)

Identity

Alias (NCBI)SAC1
HGNC (Hugo) SACM1L
HGNC Alias symbSAC1
KIAA0851
HGNC Previous nameSAC1 suppressor of actin mutations 1 like (yeast)
LocusID (NCBI) 22908
Atlas_Id 53041
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 45689396 and ends at 45745409 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)
KMT2A (11q23.3)::SACM1L (3p21.31)MIR99AHG (21q21.1)::SACM1L (3p21.31)SACM1L (3p21.31)::ANAPC13 (3q22.2)
SACM1L (3p21.31)::FAM19A1 (3p14.1)SACM1L (3p21.31)::LIMD1 (3p21.31)SACM1L (3p21.31)::LINC01545 (Xp11.23)
SACM1L (3p21.31)::MTMR2 (11q21)SACM1L (3p21.31)::SACM1L (3p21.31)WDR43 (2p23.2)::SACM1L (3p21.31)
SACM1L 3p21.31::ANAPC13 3q22.2SACM1L 3p21.31 CXorf31SACM1L 3p21.31::LIMD1 3p21.31

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;11)(p21;q23) KMT2A::SACM1L


External links

 

Nomenclature
HGNC (Hugo)SACM1L   17059
Cards
Entrez_Gene (NCBI)SACM1L    SAC1 like phosphatidylinositide phosphatase
AliasesSAC1
GeneCards (Weizmann)SACM1L
Ensembl hg19 (Hinxton)ENSG00000211456 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000211456 [Gene_View]  ENSG00000211456 [Sequence]  chr3:45689396-45745409 [Contig_View]  SACM1L [Vega]
ICGC DataPortalENSG00000211456
TCGA cBioPortalSACM1L
AceView (NCBI)SACM1L
Genatlas (Paris)SACM1L
SOURCE (Princeton)SACM1L
Genetics Home Reference (NIH)SACM1L
Genomic and cartography
GoldenPath hg38 (UCSC)SACM1L  -     chr3:45689396-45745409 +  3p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SACM1L  -     3p21.31   [Description]    (hg19-Feb_2009)
GoldenPathSACM1L - 3p21.31 [CytoView hg19]  SACM1L - 3p21.31 [CytoView hg38]
ImmunoBaseENSG00000211456
Genome Data Viewer NCBISACM1L [Mapview hg19]  
OMIM606569   
Gene and transcription
Genbank (Entrez)AB020658 AK126434 AK291142 AK296421 AK301248
RefSeq transcript (Entrez)NM_001319071 NM_001319072 NM_001319073 NM_014016
Consensus coding sequences : CCDS (NCBI)SACM1L
Gene ExpressionSACM1L [ NCBI-GEO ]   SACM1L [ EBI - ARRAY_EXPRESS ]   SACM1L [ SEEK ]   SACM1L [ MEM ]
Gene Expression Viewer (FireBrowse)SACM1L [ Firebrowse - Broad ]
GenevisibleExpression of SACM1L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22908
GTEX Portal (Tissue expression)SACM1L
Human Protein AtlasENSG00000211456-SACM1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NTJ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NTJ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NTJ5
PhosPhoSitePlusQ9NTJ5
Domaine pattern : Prosite (Expaxy)SAC (PS50275)   
Domains : Interpro (EBI)SAC_dom   
Domain families : Pfam (Sanger)Syja_N (PF02383)   
Domain families : Pfam (NCBI)pfam02383   
Conserved Domain (NCBI)SACM1L
SuperfamilyQ9NTJ5
AlphaFold pdb e-kbQ9NTJ5   
Human Protein Atlas [tissue]ENSG00000211456-SACM1L [tissue]
HPRD07587
Protein Interaction databases
DIP (DOE-UCLA)Q9NTJ5
IntAct (EBI)Q9NTJ5
BioGRIDSACM1L
STRING (EMBL)SACM1L
ZODIACSACM1L
Ontologies - Pathways
QuickGOQ9NTJ5
Ontology : AmiGOGolgi membrane  Golgi membrane  phosphatidylinositol-3-phosphatase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  Golgi apparatus  phosphatidylinositol biosynthetic process  integral component of membrane  phosphatase activity  phosphatidylinositol phosphate 4-phosphatase activity  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol dephosphorylation  phosphatidylinositol dephosphorylation  endoplasmic reticulum-plasma membrane contact site  
Ontology : EGO-EBIGolgi membrane  Golgi membrane  phosphatidylinositol-3-phosphatase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  endoplasmic reticulum membrane  Golgi apparatus  phosphatidylinositol biosynthetic process  integral component of membrane  phosphatase activity  phosphatidylinositol phosphate 4-phosphatase activity  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol dephosphorylation  phosphatidylinositol dephosphorylation  endoplasmic reticulum-plasma membrane contact site  
NDEx NetworkSACM1L
Atlas of Cancer Signalling NetworkSACM1L
Wikipedia pathwaysSACM1L
Orthology - Evolution
OrthoDB22908
GeneTree (enSembl)ENSG00000211456
Phylogenetic Trees/Animal Genes : TreeFamSACM1L
Homologs : HomoloGeneSACM1L
Homology/Alignments : Family Browser (UCSC)SACM1L
Gene fusions - Rearrangements
Fusion : MitelmanSACM1L::ANAPC13 [3p21.31/3q22.2]  
Fusion : MitelmanSACM1L::LIMD1 [3p21.31/3p21.31]  
Fusion : MitelmanSACM1L::LINC01545 [3p21.31/Xp11.23]  
Fusion : QuiverSACM1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSACM1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SACM1L
dbVarSACM1L
ClinVarSACM1L
MonarchSACM1L
1000_GenomesSACM1L 
Exome Variant ServerSACM1L
GNOMAD BrowserENSG00000211456
Varsome BrowserSACM1L
ACMGSACM1L variants
VarityQ9NTJ5
Genomic Variants (DGV)SACM1L [DGVbeta]
DECIPHERSACM1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSACM1L 
Mutations
ICGC Data PortalSACM1L 
TCGA Data PortalSACM1L 
Broad Tumor PortalSACM1L
OASIS PortalSACM1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSACM1L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSACM1L
Mutations and Diseases : HGMDSACM1L
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSACM1L
DgiDB (Drug Gene Interaction Database)SACM1L
DoCM (Curated mutations)SACM1L
CIViC (Clinical Interpretations of Variants in Cancer)SACM1L
Cancer3DSACM1L
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606569   
Orphanet
DisGeNETSACM1L
MedgenSACM1L
Genetic Testing Registry SACM1L
NextProtQ9NTJ5 [Medical]
GENETestsSACM1L
Target ValidationSACM1L
Huge Navigator SACM1L [HugePedia]
ClinGenSACM1L
Clinical trials, drugs, therapy
MyCancerGenomeSACM1L
Protein Interactions : CTDSACM1L
Pharm GKB GenePA34925
PharosQ9NTJ5
Clinical trialSACM1L
Miscellaneous
canSAR (ICR)SACM1L
HarmonizomeSACM1L
ARCHS4SACM1L
DataMed IndexSACM1L
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSACM1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 20 12:57:16 CET 2022

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