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Q8N9A8

- NEPR1_HUMAN

UniProt

Q8N9A8 - NEPR1_HUMAN

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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

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 - 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
Complete GO annotation...

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.

Topology

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

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
Complete GO annotation...

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

BgeeiQ8N9A8.
CleanExiHS_TMEM188.
ExpressionAtlasiQ8N9A8. baseline and differential.
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.

Family & Domainsi

Sequence similaritiesi

Belongs to the CNEP1R1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG241470.
GeneTreeiENSGT00390000008576.
HOVERGENiHBG107287.
InParanoidiQ8N9A8.
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

        10         20         30         40         50
MNSLEQAEDL KAFERRLTEY IHCLQPATGR WRMLLIVVSV CTATGAWNWL
60 70 80 90 100
IDPETQKVSF FTSLWNHPFF TISCITLIGL FFAGIHKRVV APSIIAARCR
110 120
TVLAEYNMSC DDTGKLILKP RPHVQ
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000008576.
HOVERGENi HBG107287.
InParanoidi Q8N9A8.
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

Bgeei Q8N9A8.
CleanExi HS_TMEM188.
ExpressionAtlasi Q8N9A8. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 79 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