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Protein

Phosphatidylinositide phosphatase SAC1

Gene

SACM1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS11932-MONOMER.
ZFISH: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

HGNCiHGNC:17059. SACM1L.

Subcellular locationi

  • Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity

Topology

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

GO - Cellular componenti

Complete GO annotation...

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.

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.
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. 15 interactors.
IntActiQ9NTJ5. 21 interactors.
MINTiMINT-4723852.
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

Sequence similaritiesi

Contains 1 SAC domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1889. Eukaryota.
COG5329. LUCA.
GeneTreeiENSGT00530000063393.
HOGENOMiHOG000189112.
HOVERGENiHBG108454.
InParanoidiQ9NTJ5.
OMAiYFATDYD.
OrthoDBiEOG091G03I1.
PhylomeDBiQ9NTJ5.
TreeFamiTF313543.

Family and domain databases

InterProiIPR002013. SAC_dom.
[Graphical view]
PfamiPF02383. Syja_N. 1 hit.
[Graphical view]
PROSITEiPS50275. SAC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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 → F.3 PublicationsCorresponds to variant rs1468542dbSNPEnsembl.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

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. 15 interactors.
IntActiQ9NTJ5. 21 interactors.
MINTiMINT-4723852.
STRINGi9606.ENSP00000373713.

PTM databases

DEPODiQ9NTJ5.
iPTMnetiQ9NTJ5.
PhosphoSitePlusiQ9NTJ5.
SwissPalmiQ9NTJ5.

Polymorphism and mutation databases

BioMutaiSACM1L.
DMDMi167016563.

Proteomic databases

EPDiQ9NTJ5.
MaxQBiQ9NTJ5.
PaxDbiQ9NTJ5.
PeptideAtlasiQ9NTJ5.
PRIDEiQ9NTJ5.

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.
GeneCardsiSACM1L.
H-InvDBHIX0021677.
HGNCiHGNC:17059. SACM1L.
HPAiHPA039573.
HPA069869.
MIMi606569. gene.
neXtProtiNX_Q9NTJ5.
OpenTargetsiENSG00000211456.
PharmGKBiPA34925.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1889. Eukaryota.
COG5329. LUCA.
GeneTreeiENSGT00530000063393.
HOGENOMiHOG000189112.
HOVERGENiHBG108454.
InParanoidiQ9NTJ5.
OMAiYFATDYD.
OrthoDBiEOG091G03I1.
PhylomeDBiQ9NTJ5.
TreeFamiTF313543.

Enzyme and pathway databases

BioCyciMetaCyc:HS11932-MONOMER.
ZFISH: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.
PROiQ9NTJ5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000211456.
CleanExiHS_SACM1L.
ExpressionAtlasiQ9NTJ5. baseline and differential.
GenevisibleiQ9NTJ5. HS.

Family and domain databases

InterProiIPR002013. SAC_dom.
[Graphical view]
PfamiPF02383. Syja_N. 1 hit.
[Graphical view]
PROSITEiPS50275. SAC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSAC1_HUMAN
AccessioniPrimary (citable) accession number: Q9NTJ5
Secondary accession number(s): A8K527
, B4DK71, O94935, Q7LA14, Q7LA22, Q96AX7, Q9NQ46, Q9NQ57
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: November 30, 2016
This is version 116 of the entry and version 2 of the sequence. [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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.