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Q8N9A8

- NEPR1_HUMAN

UniProt

Q8N9A8 - NEPR1_HUMAN

Protein

Nuclear envelope phosphatase-regulatory subunit 1

Gene

CNEP1R1

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

    Forms with the serine/threonine protein phosphatase CTDNEP1 an active complex which dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at differents levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol.1 Publication

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. lipid metabolic process Source: UniProtKB-KW
    2. positive regulation of protein dephosphorylation Source: UniProtKB
    3. positive regulation of triglyceride biosynthetic process Source: UniProtKB
    4. protein localization to nucleus Source: UniProtKB

    Keywords - Biological processi

    Lipid metabolism

    Enzyme and pathway databases

    ReactomeiREACT_200828. Depolymerisation of the Nuclear Lamina.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nuclear envelope phosphatase-regulatory subunit 1
    Short name:
    NEP1-R1
    Alternative name(s):
    Transmembrane protein 188
    Gene namesi
    Name:CNEP1R1
    Synonyms:C16orf69, TMEM188
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:26759. CNEP1R1.

    Subcellular locationi

    Nucleus membrane 1 Publication; Multi-pass membrane protein 1 Publication. Cytoplasm 1 Publication
    Note: Filamentous pattern in the cytoplasm.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. integral component of membrane Source: UniProtKB-KW
    3. Nem1-Spo7 phosphatase complex Source: UniProtKB
    4. nuclear membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Membrane, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162406208.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 125125Nuclear envelope phosphatase-regulatory subunit 1PRO_0000286615Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ8N9A8.
    PRIDEiQ8N9A8.

    Expressioni

    Tissue specificityi

    Muscle specific with lower expression in other metabolic tissues.1 Publication

    Gene expression databases

    ArrayExpressiQ8N9A8.
    BgeeiQ8N9A8.
    CleanExiHS_TMEM188.
    GenevestigatoriQ8N9A8.

    Organism-specific databases

    HPAiHPA042815.

    Interactioni

    Subunit structurei

    Interacts with CTDNEP1; the complex dephosphorylates LPIN1 and LPIN2.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CTDNEP1O954764EBI-5323455,EBI-5323433

    Protein-protein interaction databases

    BioGridi129126. 2 interactions.
    IntActiQ8N9A8. 1 interaction.
    STRINGi9606.ENSP00000405635.

    Structurei

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei33 – 5321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei65 – 8521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the CNEP1R1 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG241470.
    HOVERGENiHBG107287.
    OMAiCEDLKAF.
    OrthoDBiEOG7XSTGM.
    PhylomeDBiQ8N9A8.
    TreeFamiTF313179.

    Family and domain databases

    InterProiIPR019168. NEP1-R1.
    [Graphical view]
    PANTHERiPTHR20996. PTHR20996. 1 hit.
    PfamiPF09771. Tmemb_18A. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N9A8-1) [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

    MNSLEQAEDL KAFERRLTEY IHCLQPATGR WRMLLIVVSV CTATGAWNWL    50
    IDPETQKVSF FTSLWNHPFF TISCITLIGL FFAGIHKRVV APSIIAARCR 100
    TVLAEYNMSC DDTGKLILKP RPHVQ 125
    Length:125
    Mass (Da):14,267
    Last modified:October 1, 2002 - v1
    Checksum:i546EB9BEFE8EA593
    GO
    Isoform 2 (identifier: Q8N9A8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         8-8: E → EAPRVVSLIPAVVSGNCQ

    Show »
    Length:142
    Mass (Da):15,959
    Checksum:i3BA907B8B39FADE6
    GO
    Isoform 3 (identifier: Q8N9A8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         33-47: MLLIVVSVCTATGAW → SVLLHIIMESPIFHH
         48-125: Missing.

    Show »
    Length:47
    Mass (Da):5,618
    Checksum:i1FFD52570FA8A391
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti15 – 151R → G in CAI45924. (PubMed:17974005)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei8 – 81E → EAPRVVSLIPAVVSGNCQ in isoform 2. 2 PublicationsVSP_025126
    Alternative sequencei33 – 4715MLLIV…ATGAW → SVLLHIIMESPIFHH in isoform 3. 1 PublicationVSP_025127Add
    BLAST
    Alternative sequencei48 – 12578Missing in isoform 3. 1 PublicationVSP_025128Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK095420 mRNA. Translation: BAC04545.1.
    CR933600 mRNA. Translation: CAI45924.1.
    AC007610 Genomic DNA. No translation available.
    BC022550 mRNA. Translation: AAH22550.1.
    BC036683 mRNA. Translation: AAH36683.1.
    CCDSiCCDS45480.1. [Q8N9A8-2]
    CCDS61931.1. [Q8N9A8-1]
    RefSeqiNP_001268718.1. NM_001281789.1. [Q8N9A8-1]
    NP_694993.2. NM_153261.5. [Q8N9A8-2]
    UniGeneiHs.59134.

    Genome annotation databases

    EnsembliENST00000427478; ENSP00000394224; ENSG00000205423. [Q8N9A8-1]
    ENST00000458059; ENSP00000405635; ENSG00000205423. [Q8N9A8-2]
    ENST00000565457; ENSP00000456686; ENSG00000205423. [Q8N9A8-1]
    ENST00000566482; ENSP00000456294; ENSG00000205423. [Q8N9A8-3]
    ENST00000568890; ENSP00000456913; ENSG00000205423. [Q8N9A8-3]
    GeneIDi255919.
    KEGGihsa:255919.
    UCSCiuc002eft.3. human. [Q8N9A8-2]
    uc002efu.3. human. [Q8N9A8-1]

    Polymorphism databases

    DMDMi74729639.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK095420 mRNA. Translation: BAC04545.1 .
    CR933600 mRNA. Translation: CAI45924.1 .
    AC007610 Genomic DNA. No translation available.
    BC022550 mRNA. Translation: AAH22550.1 .
    BC036683 mRNA. Translation: AAH36683.1 .
    CCDSi CCDS45480.1. [Q8N9A8-2 ]
    CCDS61931.1. [Q8N9A8-1 ]
    RefSeqi NP_001268718.1. NM_001281789.1. [Q8N9A8-1 ]
    NP_694993.2. NM_153261.5. [Q8N9A8-2 ]
    UniGenei Hs.59134.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129126. 2 interactions.
    IntActi Q8N9A8. 1 interaction.
    STRINGi 9606.ENSP00000405635.

    Polymorphism databases

    DMDMi 74729639.

    Proteomic databases

    MaxQBi Q8N9A8.
    PRIDEi Q8N9A8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000427478 ; ENSP00000394224 ; ENSG00000205423 . [Q8N9A8-1 ]
    ENST00000458059 ; ENSP00000405635 ; ENSG00000205423 . [Q8N9A8-2 ]
    ENST00000565457 ; ENSP00000456686 ; ENSG00000205423 . [Q8N9A8-1 ]
    ENST00000566482 ; ENSP00000456294 ; ENSG00000205423 . [Q8N9A8-3 ]
    ENST00000568890 ; ENSP00000456913 ; ENSG00000205423 . [Q8N9A8-3 ]
    GeneIDi 255919.
    KEGGi hsa:255919.
    UCSCi uc002eft.3. human. [Q8N9A8-2 ]
    uc002efu.3. human. [Q8N9A8-1 ]

    Organism-specific databases

    CTDi 255919.
    GeneCardsi GC16P050058.
    H-InvDB HIX0013019.
    HGNCi HGNC:26759. CNEP1R1.
    HPAi HPA042815.
    neXtProti NX_Q8N9A8.
    PharmGKBi PA162406208.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG241470.
    HOVERGENi HBG107287.
    OMAi CEDLKAF.
    OrthoDBi EOG7XSTGM.
    PhylomeDBi Q8N9A8.
    TreeFami TF313179.

    Enzyme and pathway databases

    Reactomei REACT_200828. Depolymerisation of the Nuclear Lamina.

    Miscellaneous databases

    GenomeRNAii 255919.
    NextBioi 92676.
    PROi Q8N9A8.

    Gene expression databases

    ArrayExpressi Q8N9A8.
    Bgeei Q8N9A8.
    CleanExi HS_TMEM188.
    Genevestigatori Q8N9A8.

    Family and domain databases

    InterProi IPR019168. NEP1-R1.
    [Graphical view ]
    PANTHERi PTHR20996. PTHR20996. 1 hit.
    Pfami PF09771. Tmemb_18A. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Adipose tissue.
    3. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORMS 2 AND 3).
      Tissue: Brain and Testis.
    5. "Nuclear envelope phosphatase-regulatory subunit 1 (formerly TMEM188) is the metazoan SPO7 ortholog and functions in the lipin activation pathway."
      Han S., Bahmanyar S., Zhang P., Grishin N., Oegema K., Crooke R., Graham M., Reue K., Dixon J.E., Goodman J.M.
      J. Biol. Chem. 287:3123-3137(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN LPIN1 AND LPIN2 DEPHOSPHORYLATION, INTERACTION WITH CTDNEP1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    6. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiNEPR1_HUMAN
    AccessioniPrimary (citable) accession number: Q8N9A8
    Secondary accession number(s): Q4G1A9, Q5H9V0, Q8NE06
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 78 of the entry and version 1 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 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families
    3. Uncharacterized protein families (UPF)
      List of uncharacterized protein family (UPF) entries

    External Data

    Dasty 3