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Q9NTJ5

- SAC1_HUMAN

UniProt

Q9NTJ5 - SAC1_HUMAN

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Protein

Phosphatidylinositide phosphatase SAC1

Gene

SACM1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Phosphoinositide phosphatase that hydrolyzes PtdIns3P and PtdIns4P. Has low activity towards PtdIns(3,5)P2 (By similarity).By similarity

GO - Molecular functioni

  1. phosphatase activity Source: UniProtKB
  2. phosphatidylinositol-3-phosphatase activity Source: Ensembl
  3. phosphatidylinositol-4-phosphate phosphatase activity Source: Ensembl
  4. phosphatidylinositol bisphosphate phosphatase activity Source: Ensembl

GO - Biological processi

  1. phosphatidylinositol biosynthetic process Source: Reactome
  2. phosphatidylinositol dephosphorylation Source: Ensembl
  3. phospholipid metabolic process Source: Reactome
  4. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS11932-MONOMER.
ReactomeiREACT_120836. Synthesis of PIPs at the Golgi membrane.
REACT_121168. Synthesis of PIPs at the ER membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylinositide phosphatase SAC1 (EC:3.1.3.-)
Alternative name(s):
Suppressor of actin mutations 1-like protein
Gene namesi
Name:SACM1L
Synonyms:KIAA0851
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:17059. SACM1L.

Subcellular locationi

GO - Cellular componenti

  1. alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Source: Ensembl
  2. endoplasmic reticulum membrane Source: UniProtKB
  3. Golgi apparatus Source: LIFEdb
  4. Golgi membrane Source: Reactome
  5. integral component of endoplasmic reticulum membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34925.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 587587Phosphatidylinositide phosphatase SAC1PRO_0000317171Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei456 – 4561N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9NTJ5.
PaxDbiQ9NTJ5.
PRIDEiQ9NTJ5.

PTM databases

PhosphoSiteiQ9NTJ5.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9NTJ5.
CleanExiHS_SACM1L.
ExpressionAtlasiQ9NTJ5. baseline and differential.
GenevestigatoriQ9NTJ5.

Organism-specific databases

HPAiHPA039573.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi116572. 11 interactions.
IntActiQ9NTJ5. 9 interactions.
MINTiMINT-4723852.
STRINGi9606.ENSP00000373713.

Structurei

3D structure databases

ProteinModelPortaliQ9NTJ5.
SMRiQ9NTJ5. Positions 46-453.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei56 – 7621HelicalSequence AnalysisAdd
BLAST
Transmembranei521 – 54121HelicalSequence AnalysisAdd
BLAST
Transmembranei549 – 56921HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini122 – 451330SACPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 SAC domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5329.
GeneTreeiENSGT00530000063393.
HOVERGENiHBG108454.
InParanoidiQ9NTJ5.
OMAiISKVANH.
OrthoDBiEOG73803W.
PhylomeDBiQ9NTJ5.
TreeFamiTF313543.

Family and domain databases

InterProiIPR002013. Syja_N.
[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. Align

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 BAA74874.2 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti45 – 451K → E in BAF83831. (PubMed:14702039)Curated
Sequence conflicti376 – 3761Q → R in CAB66765. (PubMed:11230166)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti434 – 4341Y → F.3 Publications
Corresponds to variant rs1468542 [ dbSNP | Ensembl ].
VAR_038484

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4949MATAA…KKDVP → MWKLVMMEQMTYLPLTVCPQ RLPLQSRKMFLLQLSQDQYL VYWAQSIWW in isoform 2. 1 PublicationVSP_056068Add
BLAST
Alternative sequencei50 – 11061Missing in isoform 2. 1 PublicationVSP_056069Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_054735.3. NM_014016.3.
UniGeneiHs.156509.

Genome annotation databases

EnsembliENST00000389061; ENSP00000373713; ENSG00000211456. [Q9NTJ5-1]
GeneIDi22908.
KEGGihsa:22908.
UCSCiuc003cos.2. human. [Q9NTJ5-1]

Polymorphism databases

DMDMi167016563.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS33745.1. [Q9NTJ5-1 ]
PIRi T46447.
RefSeqi NP_054735.3. NM_014016.3.
UniGenei Hs.156509.

3D structure databases

ProteinModelPortali Q9NTJ5.
SMRi Q9NTJ5. Positions 46-453.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116572. 11 interactions.
IntActi Q9NTJ5. 9 interactions.
MINTi MINT-4723852.
STRINGi 9606.ENSP00000373713.

PTM databases

PhosphoSitei Q9NTJ5.

Polymorphism databases

DMDMi 167016563.

Proteomic databases

MaxQBi Q9NTJ5.
PaxDbi Q9NTJ5.
PRIDEi Q9NTJ5.

Protocols and materials databases

DNASUi 22908.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000389061 ; ENSP00000373713 ; ENSG00000211456 . [Q9NTJ5-1 ]
GeneIDi 22908.
KEGGi hsa:22908.
UCSCi uc003cos.2. human. [Q9NTJ5-1 ]

Organism-specific databases

CTDi 22908.
GeneCardsi GC03P045730.
H-InvDB HIX0021677.
HGNCi HGNC:17059. SACM1L.
HPAi HPA039573.
MIMi 606569. gene.
neXtProti NX_Q9NTJ5.
PharmGKBi PA34925.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5329.
GeneTreei ENSGT00530000063393.
HOVERGENi HBG108454.
InParanoidi Q9NTJ5.
OMAi ISKVANH.
OrthoDBi EOG73803W.
PhylomeDBi Q9NTJ5.
TreeFami TF313543.

Enzyme and pathway databases

BioCyci MetaCyc:HS11932-MONOMER.
Reactomei REACT_120836. Synthesis of PIPs at the Golgi membrane.
REACT_121168. Synthesis of PIPs at the ER membrane.

Miscellaneous databases

ChiTaRSi SACM1L. human.
GeneWikii SACM1L.
GenomeRNAii 22908.
NextBioi 43577.
PROi Q9NTJ5.
SOURCEi Search...

Gene expression databases

Bgeei Q9NTJ5.
CleanExi HS_SACM1L.
ExpressionAtlasi Q9NTJ5. baseline and differential.
Genevestigatori Q9NTJ5.

Family and domain databases

InterProi IPR002013. Syja_N.
[Graphical view ]
Pfami PF02383. Syja_N. 1 hit.
[Graphical view ]
PROSITEi PS50275. SAC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3."
    Kiss H., Kedra D., Kiss C., Kost-Alimova M., Yang Y., Klein G., Imreh S., Dumanski J.P.
    Genomics 73:10-19(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-434.
    Tissue: Testis.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT PHE-434.
    Tissue: Thalamus.
  5. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-434.
    Tissue: Placenta.
  7. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-456, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: October 29, 2014
This is version 94 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

External Data

Dasty 3