Human Gene SACM1L (ENST00000389061.10_5) from GENCODE V47lift37
  Description: SAC1 like phosphatidylinositide phosphatase, transcript variant 1 (from RefSeq NM_014016.5)
Gencode Transcript: ENST00000389061.10_5
Gencode Gene: ENSG00000211456.14_13
Transcript (Including UTRs)
   Position: hg19 chr3:45,730,888-45,786,901 Size: 56,014 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr3:45,730,958-45,785,161 Size: 54,204 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:45,730,888-45,786,901)mRNA (may differ from genome)Protein (587 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SAC1_HUMAN
DESCRIPTION: RecName: Full=Phosphatidylinositide phosphatase SAC1; EC=3.1.3.-; AltName: Full=Suppressor of actin mutations 1-like protein;
FUNCTION: Phosphoinositide phosphatase that hydrolyzes PtdIns(3)P and PtdIns(4)P. Has low activity towards PtdIns(3,5)P2 (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity).
TISSUE SPECIFICITY: Detected in heart, brain, lung, liver, kidney, pancreas and testis.
SIMILARITY: Contains 1 SAC domain.
SEQUENCE CAUTION: Sequence=BAA74874.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SACM1L
Diseases sorted by gene-association score: yunis-varon syndrome (2), neuropathy, congenital hypomyelinating (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.07 RPKM in Thyroid
Total median expression: 520.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.2070-0.217 Picture PostScript Text
3' UTR -422.001740-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002013 - Syja_N

Pfam Domains:
PF02383 - SacI homology domain

ModBase Predicted Comparative 3D Structure on Q9NTJ5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004438 phosphatidylinositol-3-phosphatase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0034593 phosphatidylinositol bisphosphate phosphatase activity
GO:0034596 phosphatidylinositol phosphate 4-phosphatase activity
GO:0042578 phosphoric ester hydrolase activity
GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity

Biological Process:
GO:0006661 phosphatidylinositol biosynthetic process
GO:0046856 phosphatidylinositol dephosphorylation

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0032281 AMPA glutamate receptor complex


-  Descriptions from all associated GenBank mRNAs
  CR749564 - Homo sapiens mRNA; cDNA DKFZp686A0231 (from clone DKFZp686A0231).
AK291142 - Homo sapiens cDNA FLJ76818 complete cds, highly similar to Homo sapiens SAC1 suppressor of actin mutations 1-like (SACM1L), mRNA.
AB020658 - Homo sapiens KIAA0851 mRNA for KIAA0851 protein.
AK301248 - Homo sapiens cDNA FLJ53218 complete cds, highly similar to Homo sapiens SAC1 suppressor of actin mutations 1-like (SACM1L), mRNA.
BC016559 - Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast), mRNA (cDNA clone MGC:5369 IMAGE:3049075), complete cds.
LP895446 - Sequence 310 from Patent EP3253886.
AL136831 - Homo sapiens mRNA; cDNA DKFZp434O1328 (from clone DKFZp434O1328).
AK296421 - Homo sapiens cDNA FLJ55660 complete cds, highly similar to Homo sapiens SAC1 suppressor of actin mutations 1-like (SACM1L), mRNA.
AM393061 - Synthetic construct Homo sapiens clone IMAGE:100003074 for hypothetical protein (SACM1L gene).
CU677647 - Synthetic construct Homo sapiens gateway clone IMAGE:100020360 5' read SACM1L mRNA.
AB384015 - Synthetic construct DNA, clone: pF1KSDA0851, Homo sapiens SACM1L gene for suppressor of actin 1, complete cds, without stop codon, in Flexi system.
KJ898420 - Synthetic construct Homo sapiens clone ccsbBroadEn_07814 SACM1L gene, encodes complete protein.
JD217592 - Sequence 198616 from Patent EP1572962.
JD211106 - Sequence 192130 from Patent EP1572962.
JD437309 - Sequence 418333 from Patent EP1572962.
AK126434 - Homo sapiens cDNA FLJ44470 fis, clone UTERU2026203, highly similar to Homo sapiens SAC1 suppressor of actin mutations 1-like (SACM1L), mRNA.
BC033581 - Homo sapiens cDNA clone IMAGE:5201593.
JD309224 - Sequence 290248 from Patent EP1572962.
JD286205 - Sequence 267229 from Patent EP1572962.
JD172225 - Sequence 153249 from Patent EP1572962.
JD244463 - Sequence 225487 from Patent EP1572962.
JD548971 - Sequence 529995 from Patent EP1572962.
JD349216 - Sequence 330240 from Patent EP1572962.
JD265586 - Sequence 246610 from Patent EP1572962.
JD107285 - Sequence 88309 from Patent EP1572962.
JD326278 - Sequence 307302 from Patent EP1572962.
JD041911 - Sequence 22935 from Patent EP1572962.
JD299191 - Sequence 280215 from Patent EP1572962.
JD313282 - Sequence 294306 from Patent EP1572962.
JD110052 - Sequence 91076 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6352 - 3-phosphoinositide biosynthesis
PWY-6368 - 3-phosphoinositide degradation
PWY-6371 - superpathway of inositol phosphate compounds

Reactome (by CSHL, EBI, and GO)

Protein Q9NTJ5 (Reactome details) participates in the following event(s):

R-HSA-1676124 PI4P is dephosphorylated to PI by SACM1L at the ER membrane
R-HSA-1676133 PI4P is dephosphorylated to PI by SACM1L at the Golgi membrane
R-HSA-1676114 PI3P is dephosphorylated to PI by SACM1L at the Golgi membrane
R-HSA-1483248 Synthesis of PIPs at the ER membrane
R-HSA-1660514 Synthesis of PIPs at the Golgi membrane
R-HSA-1483255 PI Metabolism
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K527, B4DK71, ENST00000389061.1, ENST00000389061.2, ENST00000389061.3, ENST00000389061.4, ENST00000389061.5, ENST00000389061.6, ENST00000389061.7, ENST00000389061.8, ENST00000389061.9, KIAA0851 , NM_014016, O94935, Q7LA14, Q7LA22, Q96AX7, Q9NQ46, Q9NQ57, Q9NTJ5, SAC1 , SAC1_HUMAN, SACM1L , uc318tcj.1, uc318tcj.2
UCSC ID: ENST00000389061.10_5
RefSeq Accession: NM_001319071.2
Protein: Q9NTJ5 (aka SAC1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.