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SACM1L (SAC1 suppressor of actin mutations 1 like (yeast))

Identity

Alias_symbol (synonym)SAC1
KIAA0851
Other alias
HGNC (Hugo) SACM1L
LocusID (NCBI) 22908
Atlas_Id 53041
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 45689241 and ends at 45745425 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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

 


External links

Nomenclature
HGNC (Hugo)SACM1L   17059
Cards
Entrez_Gene (NCBI)SACM1L  22908  SAC1 suppressor of actin mutations 1 like (yeast)
AliasesSAC1
GeneCards (Weizmann)SACM1L
Ensembl hg19 (Hinxton)ENSG00000211456 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000211456 [Gene_View]  chr3:45689241-45745425 [Contig_View]  SACM1L [Vega]
ICGC DataPortalENSG00000211456
TCGA cBioPortalSACM1L
AceView (NCBI)SACM1L
Genatlas (Paris)SACM1L
WikiGenes22908
SOURCE (Princeton)SACM1L
Genetics Home Reference (NIH)SACM1L
Genomic and cartography
GoldenPath hg38 (UCSC)SACM1L  -     chr3:45689241-45745425 +  3p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SACM1L  -     3p21.31   [Description]    (hg19-Feb_2009)
EnsemblSACM1L - 3p21.31 [CytoView hg19]  SACM1L - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBISACM1L [Mapview hg19]  SACM1L [Mapview hg38]
OMIM606569   
Gene and transcription
Genbank (Entrez)AB020658 AK126434 AK291142 AK296421 AK301248
RefSeq transcript (Entrez)NM_001319072 NM_001319073 NM_014016
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SACM1L
Cluster EST : UnigeneHs.156509 [ NCBI ]
CGAP (NCI)Hs.156509
Alternative Splicing GalleryENSG00000211456
Gene ExpressionSACM1L [ NCBI-GEO ]   SACM1L [ EBI - ARRAY_EXPRESS ]   SACM1L [ SEEK ]   SACM1L [ MEM ]
Gene Expression Viewer (FireBrowse)SACM1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22908
GTEX Portal (Tissue expression)SACM1L
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
Splice isoforms : SwissVarQ9NTJ5
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
DMDM Disease mutations22908
Blocks (Seattle)SACM1L
SuperfamilyQ9NTJ5
Human Protein AtlasENSG00000211456
Peptide AtlasQ9NTJ5
HPRD07587
IPIIPI00022275   IPI00927452   IPI00924492   IPI00927794   IPI00927495   IPI00927252   IPI00926992   
Protein Interaction databases
DIP (DOE-UCLA)Q9NTJ5
IntAct (EBI)Q9NTJ5
FunCoupENSG00000211456
BioGRIDSACM1L
STRING (EMBL)SACM1L
ZODIACSACM1L
Ontologies - Pathways
QuickGOQ9NTJ5
Ontology : AmiGOGolgi membrane  phosphatidylinositol-3-phosphatase activity  protein binding  endoplasmic reticulum membrane  endoplasmic reticulum membrane  Golgi apparatus  phosphatidylinositol biosynthetic process  biological_process  phosphatase activity  integral component of endoplasmic reticulum membrane  AMPA glutamate receptor complex  phosphatidylinositol bisphosphate phosphatase activity  phosphatidylinositol phosphate 4-phosphatase activity  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol dephosphorylation  
Ontology : EGO-EBIGolgi membrane  phosphatidylinositol-3-phosphatase activity  protein binding  endoplasmic reticulum membrane  endoplasmic reticulum membrane  Golgi apparatus  phosphatidylinositol biosynthetic process  biological_process  phosphatase activity  integral component of endoplasmic reticulum membrane  AMPA glutamate receptor complex  phosphatidylinositol bisphosphate phosphatase activity  phosphatidylinositol phosphate 4-phosphatase activity  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol dephosphorylation  
NDEx NetworkSACM1L
Atlas of Cancer Signalling NetworkSACM1L
Wikipedia pathwaysSACM1L
Orthology - Evolution
OrthoDB22908
GeneTree (enSembl)ENSG00000211456
Phylogenetic Trees/Animal Genes : TreeFamSACM1L
HOVERGENQ9NTJ5
HOGENOMQ9NTJ5
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]  [t(3;3)(p21;p21)]  
Fusion : MitelmanSACM1L/LINC01545 [3p21.31/Xp11.23]  [t(X;3)(p11;p21)]  
Fusion: TCGASACM1L 3p21.31 ANAPC13 3q22.2 BRCA
Fusion: TCGASACM1L 3p21.31 CXorf31 BRCA
Fusion: TCGASACM1L 3p21.31 LIMD1 3p21.31 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSACM1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SACM1L
dbVarSACM1L
ClinVarSACM1L
1000_GenomesSACM1L 
Exome Variant ServerSACM1L
ExAC (Exome Aggregation Consortium)SACM1L (select the gene name)
Genetic variants : HAPMAP22908
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]  
Mutations and Diseases : HGMDSACM1L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SACM1L
DgiDB (Drug Gene Interaction Database)SACM1L
DoCM (Curated mutations)SACM1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SACM1L (select a term)
intoGenSACM1L
Cancer3DSACM1L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606569   
Orphanet
MedgenSACM1L
Genetic Testing Registry SACM1L
NextProtQ9NTJ5 [Medical]
TSGene22908
GENETestsSACM1L
Huge Navigator SACM1L [HugePedia]
snp3D : Map Gene to Disease22908
BioCentury BCIQSACM1L
ClinGenSACM1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22908
Chemical/Pharm GKB GenePA34925
Clinical trialSACM1L
Miscellaneous
canSAR (ICR)SACM1L (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSACM1L
EVEXSACM1L
GoPubMedSACM1L
iHOPSACM1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:36:01 CEST 2017

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