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Q9NTJ5

- SAC1_HUMAN

UniProt

Q9NTJ5 - SAC1_HUMAN

Protein

Phosphatidylinositide phosphatase SAC1

Gene

SACM1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 2 (05 Feb 2008)
      Previous versions | rss
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    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
    5. protein binding Source: IntAct

    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

    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

    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

    ArrayExpressiQ9NTJ5.
    BgeeiQ9NTJ5.
    CleanExiHS_SACM1L.
    GenevestigatoriQ9NTJ5.

    Organism-specific databases

    HPAiHPA039573.

    Interactioni

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi116572. 7 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.
    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

    MATAAYEQLK LHITPEKFYV EACDDGADDV LTIDRVSTEV TLAVKKDVPP    50
    SAVTRPIFGI LGTIHLVAGN YLIVITKKIK VGEFFSHVVW KATDFDVLSY 100
    KKTMLHLTDI QLQDNKTFLA MLNHVLNVDG FYFSTTYDLT HTLQRLSNTS 150
    PEFQEMSLLE RADQRFVWNG HLLRELSAQP EVHRFALPVL HGFITMHSCS 200
    INGKYFDWIL ISRRSCFRAG VRYYVRGIDS EGHAANFVET EQIVHYNGSK 250
    ASFVQTRGSI PVFWSQRPNL KYKPLPQISK VANHMDGFQR HFDSQVIIYG 300
    KQVIINLINQ KGSEKPLEQT FATMVSSLGS GMMRYIAFDF HKECKNMRWD 350
    RLSILLDQVA EMQDELSYFL VDSAGQVVAN QEGVFRSNCM DCLDRTNVIQ 400
    SLLARRSLQA QLQRLGVLHV GQKLEEQDEF EKIYKNAWAD NANACAKQYA 450
    GTGALKTDFT RTGKRTHLGL IMDGWNSMIR YYKNNFSDGF RQDSIDLFLG 500
    NYSVDELESH SPLSVPRDWK FLALPIIMVV AFSMCIICLL MAGDTWTETL 550
    AYVLFWGVAS IGTFFIILYN GKDFVDAPRL VQKEKID 587
    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.
    PIRiT46447.
    RefSeqiNP_054735.3. NM_014016.3.
    UniGeneiHs.156509.

    Genome annotation databases

    EnsembliENST00000389061; ENSP00000373713; ENSG00000211456.
    ENST00000541314; ENSP00000443373; ENSG00000211456.
    GeneIDi22908.
    KEGGihsa:22908.
    UCSCiuc003cos.2. human.

    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.
    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. 7 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 .
    ENST00000541314 ; ENSP00000443373 ; ENSG00000211456 .
    GeneIDi 22908.
    KEGGi hsa:22908.
    UCSCi uc003cos.2. human.

    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.
    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

    ArrayExpressi Q9NTJ5.
    Bgeei Q9NTJ5.
    CleanExi HS_SACM1L.
    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

    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 1, 2014
    This is version 93 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