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Protein

Phosphatidylinositide phosphatase SAC1

Gene

SACM1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 4-phosphate (PtdIns4P) (PubMed:24209621). Has low activity towards PtdIns(3,5)P2 (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS11932-MONOMER
ReactomeiR-HSA-1483248 Synthesis of PIPs at the ER membrane
R-HSA-1660514 Synthesis of PIPs at the Golgi membrane

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylinositide phosphatase SAC1 (EC:3.1.3.-1 Publication)
Alternative name(s):
Suppressor of actin mutations 1-like protein
Gene namesi
Name:SACM1L
Synonyms:KIAA08511 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000211456.10
HGNCiHGNC:17059 SACM1L
MIMi606569 gene
neXtProtiNX_Q9NTJ5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei56 – 76HelicalSequence analysisAdd BLAST21
Transmembranei521 – 541HelicalSequence analysisAdd BLAST21
Transmembranei549 – 569HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi22908
OpenTargetsiENSG00000211456
PharmGKBiPA34925

Polymorphism and mutation databases

BioMutaiSACM1L
DMDMi167016563

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003171711 – 587Phosphatidylinositide phosphatase SAC1Add BLAST587

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei456N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9NTJ5
MaxQBiQ9NTJ5
PaxDbiQ9NTJ5
PeptideAtlasiQ9NTJ5
PRIDEiQ9NTJ5
ProteomicsDBi82620

PTM databases

DEPODiQ9NTJ5
iPTMnetiQ9NTJ5
PhosphoSitePlusiQ9NTJ5
SwissPalmiQ9NTJ5

Expressioni

Tissue specificityi

Detected in heart, brain, lung, liver, kidney, pancreas and testis.1 Publication

Gene expression databases

BgeeiENSG00000211456 Expressed in 243 organ(s), highest expression level in secondary oocyte
CleanExiHS_SACM1L
ExpressionAtlasiQ9NTJ5 baseline and differential
GenevisibleiQ9NTJ5 HS

Organism-specific databases

HPAiHPA039573
HPA069869

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
COPG1Q9Y6783EBI-3917235,EBI-1049127

Protein-protein interaction databases

BioGridi116572, 34 interactors
IntActiQ9NTJ5, 47 interactors
MINTiQ9NTJ5
STRINGi9606.ENSP00000373713

Structurei

3D structure databases

ProteinModelPortaliQ9NTJ5
SMRiQ9NTJ5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini122 – 451SACPROSITE-ProRule annotationAdd BLAST330

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1889 Eukaryota
COG5329 LUCA
GeneTreeiENSGT00530000063393
HOGENOMiHOG000189112
HOVERGENiHBG108454
InParanoidiQ9NTJ5
KOiK21797
OMAiMLFWGAM
OrthoDBiEOG091G03I1
PhylomeDBiQ9NTJ5
TreeFamiTF313543

Family and domain databases

InterProiView protein in InterPro
IPR002013 SAC_dom
PfamiView protein in Pfam
PF02383 Syja_N, 1 hit
PROSITEiView protein in PROSITE
PS50275 SAC, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NTJ5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATAAYEQLK LHITPEKFYV EACDDGADDV LTIDRVSTEV TLAVKKDVPP
60 70 80 90 100
SAVTRPIFGI LGTIHLVAGN YLIVITKKIK VGEFFSHVVW KATDFDVLSY
110 120 130 140 150
KKTMLHLTDI QLQDNKTFLA MLNHVLNVDG FYFSTTYDLT HTLQRLSNTS
160 170 180 190 200
PEFQEMSLLE RADQRFVWNG HLLRELSAQP EVHRFALPVL HGFITMHSCS
210 220 230 240 250
INGKYFDWIL ISRRSCFRAG VRYYVRGIDS EGHAANFVET EQIVHYNGSK
260 270 280 290 300
ASFVQTRGSI PVFWSQRPNL KYKPLPQISK VANHMDGFQR HFDSQVIIYG
310 320 330 340 350
KQVIINLINQ KGSEKPLEQT FATMVSSLGS GMMRYIAFDF HKECKNMRWD
360 370 380 390 400
RLSILLDQVA EMQDELSYFL VDSAGQVVAN QEGVFRSNCM DCLDRTNVIQ
410 420 430 440 450
SLLARRSLQA QLQRLGVLHV GQKLEEQDEF EKIYKNAWAD NANACAKQYA
460 470 480 490 500
GTGALKTDFT RTGKRTHLGL IMDGWNSMIR YYKNNFSDGF RQDSIDLFLG
510 520 530 540 550
NYSVDELESH SPLSVPRDWK FLALPIIMVV AFSMCIICLL MAGDTWTETL
560 570 580
AYVLFWGVAS IGTFFIILYN GKDFVDAPRL VQKEKID
Length:587
Mass (Da):66,967
Last modified:February 5, 2008 - v2
Checksum:i3E0FC7515D15A071
GO
Isoform 2 (identifier: Q9NTJ5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: MATAAYEQLK...VTLAVKKDVP → MWKLVMMEQM...LVYWAQSIWW
     50-110: Missing.

Note: No experimental confirmation available.
Show »
Length:526
Mass (Da):60,853
Checksum:i5C0875B269BFDC32
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PGZ4E9PGZ4_HUMAN
Phosphatidylinositide phosphatase S...
SACM1L
484Annotation score:
F8WDN7F8WDN7_HUMAN
Phosphatidylinositide phosphatase S...
SACM1L
287Annotation score:
C9JV50C9JV50_HUMAN
Phosphatidylinositide phosphatase S...
SACM1L
187Annotation score:
C9J3E3C9J3E3_HUMAN
Phosphatidylinositide phosphatase S...
SACM1L
112Annotation score:
F8WCQ2F8WCQ2_HUMAN
Phosphatidylinositide phosphatase S...
SACM1L
71Annotation score:

Sequence cautioni

The sequence BAA74874 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti45K → E in BAF83831 (PubMed:14702039).Curated1
Sequence conflicti376Q → R in CAB66765 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038484434Y → F3 PublicationsCorresponds to variant dbSNP:rs1468542Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0560681 – 49MATAA…KKDVP → MWKLVMMEQMTYLPLTVCPQ RLPLQSRKMFLLQLSQDQYL VYWAQSIWW in isoform 2. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_05606950 – 110Missing in isoform 2. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ297357 Genomic DNA Translation: CAB95945.1
AJ289880 Genomic DNA Translation: CAB96871.1
AB020658 mRNA Translation: BAA74874.2 Different initiation.
AL136831 mRNA Translation: CAB66765.1
AK291142 mRNA Translation: BAF83831.1
AK296421 mRNA Translation: BAG59083.1
AC098476 Genomic DNA No translation available.
BC016559 mRNA Translation: AAH16559.1
CCDSiCCDS33745.1 [Q9NTJ5-1]
PIRiT46447
RefSeqiNP_001306001.1, NM_001319072.1 [Q9NTJ5-2]
NP_001306002.1, NM_001319073.1
NP_054735.3, NM_014016.4 [Q9NTJ5-1]
XP_011531802.1, XM_011533500.2 [Q9NTJ5-2]
UniGeneiHs.156509

Genome annotation databases

EnsembliENST00000389061; ENSP00000373713; ENSG00000211456 [Q9NTJ5-1]
GeneIDi22908
KEGGihsa:22908
UCSCiuc003cos.3 human [Q9NTJ5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ297357 Genomic DNA Translation: CAB95945.1
AJ289880 Genomic DNA Translation: CAB96871.1
AB020658 mRNA Translation: BAA74874.2 Different initiation.
AL136831 mRNA Translation: CAB66765.1
AK291142 mRNA Translation: BAF83831.1
AK296421 mRNA Translation: BAG59083.1
AC098476 Genomic DNA No translation available.
BC016559 mRNA Translation: AAH16559.1
CCDSiCCDS33745.1 [Q9NTJ5-1]
PIRiT46447
RefSeqiNP_001306001.1, NM_001319072.1 [Q9NTJ5-2]
NP_001306002.1, NM_001319073.1
NP_054735.3, NM_014016.4 [Q9NTJ5-1]
XP_011531802.1, XM_011533500.2 [Q9NTJ5-2]
UniGeneiHs.156509

3D structure databases

ProteinModelPortaliQ9NTJ5
SMRiQ9NTJ5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116572, 34 interactors
IntActiQ9NTJ5, 47 interactors
MINTiQ9NTJ5
STRINGi9606.ENSP00000373713

PTM databases

DEPODiQ9NTJ5
iPTMnetiQ9NTJ5
PhosphoSitePlusiQ9NTJ5
SwissPalmiQ9NTJ5

Polymorphism and mutation databases

BioMutaiSACM1L
DMDMi167016563

Proteomic databases

EPDiQ9NTJ5
MaxQBiQ9NTJ5
PaxDbiQ9NTJ5
PeptideAtlasiQ9NTJ5
PRIDEiQ9NTJ5
ProteomicsDBi82620

Protocols and materials databases

DNASUi22908
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389061; ENSP00000373713; ENSG00000211456 [Q9NTJ5-1]
GeneIDi22908
KEGGihsa:22908
UCSCiuc003cos.3 human [Q9NTJ5-1]

Organism-specific databases

CTDi22908
DisGeNETi22908
EuPathDBiHostDB:ENSG00000211456.10
GeneCardsiSACM1L
H-InvDBiHIX0021677
HGNCiHGNC:17059 SACM1L
HPAiHPA039573
HPA069869
MIMi606569 gene
neXtProtiNX_Q9NTJ5
OpenTargetsiENSG00000211456
PharmGKBiPA34925
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1889 Eukaryota
COG5329 LUCA
GeneTreeiENSGT00530000063393
HOGENOMiHOG000189112
HOVERGENiHBG108454
InParanoidiQ9NTJ5
KOiK21797
OMAiMLFWGAM
OrthoDBiEOG091G03I1
PhylomeDBiQ9NTJ5
TreeFamiTF313543

Enzyme and pathway databases

BioCyciMetaCyc:HS11932-MONOMER
ReactomeiR-HSA-1483248 Synthesis of PIPs at the ER membrane
R-HSA-1660514 Synthesis of PIPs at the Golgi membrane

Miscellaneous databases

ChiTaRSiSACM1L human
GeneWikiiSACM1L
GenomeRNAii22908
PROiPR:Q9NTJ5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000211456 Expressed in 243 organ(s), highest expression level in secondary oocyte
CleanExiHS_SACM1L
ExpressionAtlasiQ9NTJ5 baseline and differential
GenevisibleiQ9NTJ5 HS

Family and domain databases

InterProiView protein in InterPro
IPR002013 SAC_dom
PfamiView protein in Pfam
PF02383 Syja_N, 1 hit
PROSITEiView protein in PROSITE
PS50275 SAC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSAC1_HUMAN
AccessioniPrimary (citable) accession number: Q9NTJ5
Secondary accession number(s): A8K527
, B4DK71, O94935, Q7LA14, Q7LA22, Q96AX7, Q9NQ46, Q9NQ57
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: October 10, 2018
This is version 128 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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Main funding by: National Institutes of Health

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