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SACM1L Gene

protein-coding   GIFtS: 50

GC03P045706
SAC1 suppressor of actin mutations 1-like (yeast)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
DKFZp686A0231 2
EC 3.1.3.- 3
KIAA0851 1, 2, 3, 5
SAC1 1, 2, 5
Descriptions
SAC1 suppressor of actin mutations 1-like (yeast) 2
Suppressor of actin mutations 1-like protein 3
phosphatidylinositide phosphatase SAC1 2
suppressor of actin 1 2
External Ids
HGNC: 170591
Entrez Gene: 229082
UniProtKB: Q9NTJ53
Ensembl: ENSG000002114567
Search outside databases for aliases for SACM1L gene

Previous GC identifers: GC03P044971 GC03P045550 GC03P045691

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: SAC1_HUMAN, Q9NTJ5
Function: Phosphoinositide phosphatase that hydrolyzes PtdIns(3)P and PtdIns(4)P. Has low activity
towards PtdIns(3,5)P2 (By similarity)

Gene Wiki entry for SACM1L

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SACM1L gene  

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.3

SACM1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P045706:     (about GC identifiers)

Start:
45,705,893 bp from pter
End:
45,761,905 bp from pter
Size:
56,013 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000003.10  NT_022517.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: SAC1_HUMAN, Q9NTJ5 (See protein sequence)
Recommended Name: Phosphatidylinositide phosphatase SAC1  
Size: 587 amino acids; 66967 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: A8K527 O94935 Q7LA14 Q7LA22 Q96AX7 Q9NQ46 Q9NQ57

REFSEQ proteins: NP_054735.3  

ENSEMBL proteins: 
ENSP00000373713 


Human Recombinant Proteins 
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Browse Human Recombinant Proteins at Sigma-Aldrich  
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Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (SACM1L)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005783 endoplasmic reticulum IEA--
GO:0005789 endoplasmic reticulum membrane ISS--
GO:0005794 Golgi apparatus IDA11256614
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for SACM1L: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for SACM1L

Assays for SACM1L: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR002013 Syja_N


   GeneDecks  SACM1L for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9NTJ5

ProtoNet protein and cluster: Q9NTJ5

1 Blocks protein family: IPB002013 Synaptojanin

UniProtKB/Swiss-Prot: SAC1_HUMAN, Q9NTJ5
Similarity: Contains 1 SAC domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SACM1L)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014016

              Applied Biosystems Silencer® siRNAs for SACM1L

              Sigma-Aldrich siRNA and siRNA Panels for SACM1L  
                     Sigma-Aldrich shRNA for SACM1L  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for SACM1L
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014016
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_014016
                                 untagged cDNA clone in CMV expression vector: NM_014016 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_014016

UniProtKB/Swiss-Prot: SAC1_HUMAN, Q9NTJ5
Function: Phosphoinositide phosphatase that hydrolyzes PtdIns(3)P and PtdIns(4)P. Has low activity
towards PtdIns(3,5)P2 (By similarity)
Enzyme Number (IUBMB): EC 3.1.3.- 

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016787 hydrolase activity IEA--
GO:0016791 phosphatase activity ISS--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


5 Sigma-Aldrich "Your Favorite Gene" Pathways for  SACM1L  (Your Favorite Gene powered by Ingenuity) 
 Riboflavin Metabolism
 Sphingolipid Metabolism
 Aminosugars Metabolism
 Nicotinate and Nicotinamide Metabolism
 Fructose and Mannose Metabolism

   GeneDecks  SACM1L for the pathways selected above  
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  --

1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0008150 biological_process ND--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for SACM1L
1 Novoseek chemical compound relationship for SACM1L gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
atp 29.35 2 10224048 (1), 14527956 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SACM1L)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014016

              Sigma-Aldrich siRNA and siRNA Panels for SACM1L  
                     Sigma-Aldrich shRNA for SACM1L  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_014016  

REFSEQ mRNAs for SACM1L gene: 

NM_014016.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_014016  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014016
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_014016
                                 untagged cDNA clone in CMV expression vector: NM_014016 

Additional cDNA sequence: 

AB020658.1 AK126434.1 AK291142.1 AK296421.1 AK301248.1 AL136831.1 BC016559.1 BC033581.1 
CR749564.1 

14 DOTS entries:

DT.314635  DT.120917158  DT.100814802  DT.91832658  DT.407453  DT.100814807  DT.120917186  DT.120917201 
DT.40303935  DT.95129836  DT.100814806  DT.102825572  DT.120917160  DT.120917188 

24/219 AceView cDNA sequences (see all 219 ):

BG681793 CD625110 BG611907 BM873489 AB020658 BM806938 BM873431 AI436098 
AA282650 BG260188 AA349634 BM996540 BE302313 AA669997 AA873488 AI814867 
BC016559 AI188770 BC033581 CB857693 CB857401 N27587 BQ228894 CB857841 

highest scoring ESTs for SACM1L:

AB020658 AA115947 AA122290 AA248946 AA249382 AA282650 AA300446 AA344624 AA349633 AA382732 

Unigene Cluster for SACM1L:

SAC1 suppressor of actin mutations 1-like (yeast)
Hs.156509  [show with all ESTs]
Unigene Representative Sequence: CR749564


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000389061  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

SACM1L expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for SACM1L

1 / 2 / 3

3 probe-sets matching SACM1L gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

36511_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AB020658 1.00 0.90 0.95 1

202797_at2, 3 U133-A 1 1.00 1.00 -- -- NM_014016 0.60 1.00 0.82 1

202797_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TACTGTATGT

SOURCE GeneReport for Unigene cluster: Hs.156509

Expression variation in blood from EXPOLDB for SACM1L

UniProtKB/Swiss-Prot: SAC1_HUMAN, Q9NTJ5
Tissue specificity: Detected in heart, brain, lung, liver, kidney, pancreas and testis

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for SACM1L gene from 5/20 species (see all 20 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
SACM1L1   -- SAC1 suppressor of actin mutations 1-like (yeast) 91.6(n)
94.21(a)
484795  XM_541911.2  XP_541911.2 
chimpanzee
(Pan troglodytes)
SACM1L1   -- SAC1 suppressor of actin mutations 1-like (yeast) 98.56(n)
98.79(a)
460317  XM_516409.2  XP_516409.2 
cow
(Bos taurus)
SACM1L1   -- SAC1 suppressor of actin mutations 1-like (yeast) 92.16(n)
94.21(a)
530577  XM_609051.3  XP_609051.3 
rat
(Rattus norvegicus)
Sacm1l1   -- SAC1 suppressor of actin mutations 1-like (yeast) 91.31(n)
94.89(a)
116482  NM_053798.1  NP_446250.1 
mouse
(Mus musculus)
Sacm1l1, 5 9 (70.80 cM)5
SAC1 (suppressor of actin mutations 1, homolog)-like more1, 5 91.08(n)1
94.89(a)1
834931  NM_030692.21  NP_109617.11 
 AJ2457205  AJ2975265  (see all 17)
About this table        Species with no ortholog for SACM1L

ENSEMBL Gene Tree for SACM1L
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for SACM1L gene
FIG42  INPP5F2  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/370 NCBI SNPs in SACM1L are shown (see all 370 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 197)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 3 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs14685421,2
A,C,F,H,O45754140(-) TTTTGT/AAAATC 1 F/Y mis119Minor allele frequency- A:0.41MN EA NA EU WA 3220
rs27423781,2
A,H45762000(+) ctctgT/Agtccc 1 -- ng312Minor allele frequency- A:0.00EU WA 228
--
rs126296461,2
C45762256(+) catgcA/Ggaact 1 -- ng310--------
rs22716191,2
A,C,F,H45729689(-) ACCTCT/CGGCTG 1 P/P syn18Minor allele frequency- C:0.11EA EU WA NA 1580
rs19628001,2
A,C,F,H,O45754947(-) AAATAC/TAGATA 1 -- int19Minor allele frequency- T:0.37MN EU EA WA NA 2214
rs27423931,2
A,C,F,H,O45732421(+) GGCAAT/ATTTAG 1 -- int112Minor allele frequency- A:0.36NS EU EA WA NA 666
rs20640631,2
A,C,F,H,O45734928(+) aaaggT/Agcttc 1 -- int18Minor allele frequency- A:0.49MN EU EA WA NA 742
rs27424481,2
A,C,F,H,O45739250(+) GGTAGA/GTTGTA 1 -- int121Minor allele frequency- G:0.38EA NS NA EU WA 2922
rs27424221,2
A,C,F,H,O45707824(+) TTAGAG/ATTTCC 1 -- int14Minor allele frequency- A:0.16EA EU 1770
rs27423981,2
A,C,F,H,O45734040(+) GAAGTT/CGGATG 1 -- int111Minor allele frequency- C:0.48NA EU EA WA 980
About this table

HapMap Linkage Disequilibrium images for SACM1L (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 606569

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/17 PubMed articles for SACM1L gene (see all 17 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 22908 HGNC: 17059 AceView: SACM1L Ensembl:ENSG00000211456 euGenes: HUgn22908
ECgene: SACM1L H-InvDB: SACM1L
(According to HUGE)
About This Section

HUGE: KIAA0851
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for SACM1L:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for SACM1L Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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