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    NEMP1 nuclear envelope integral membrane protein 1 [ Homo sapiens (human) ]

    Gene ID: 23306, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NEMP1provided by HGNC
    Official Full Name
    nuclear envelope integral membrane protein 1provided by HGNC
    Primary source
    HGNC:HGNC:29001
    See related
    Ensembl:ENSG00000166881 MIM:616496; AllianceGenome:HGNC:29001
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TMEM194; TMEM194A
    Summary
    Involved in nuclear membrane organization. Predicted to be located in nuclear inner membrane. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 5.8), testis (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NEMP1 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57055643..57088627, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57023514..57056589, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57449426..57472574, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene tachykinin precursor 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57423222-57424059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6521 Neighboring gene myosin IA Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4571 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57485501-57485781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4572 Neighboring gene Sharpr-MPRA regulatory region 4597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57488515-57489045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57489590-57490426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57493803-57494325 Neighboring gene NGFI-A binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57495608-57496108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57496109-57496609 Neighboring gene signal transducer and activator of transcription 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57504271-57505218 Neighboring gene uncharacterized LOC124902946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57505219-57506164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4574

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. NEMP1 Promotes Tamoxifen Resistance in Breast Cancer Cells. Liu Y, et al. Biochem Genet, 2019 Dec. PMID 31079234
    2. MiR-1285-5p/TMEM194A axis affects cell proliferation in breast cancer. Hironaka-Mitsuhashi A, et al. Cancer Sci, 2020 Feb. PMID 31854049, Free PMC Article
    3. The NEMP family supports metazoan fertility and nuclear envelope stiffness. Tsatskis Y, et al. Sci Adv, 2020 Aug. PMID 32923640, Free PMC Article
    4. Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins. Ohara O, et al. DNA Res, 1997 Feb 28. PMID 9179496
    5. The Inner Nuclear Membrane Protein Nemp1 Is a New Type of RanGTP-Binding Protein in Eukaryotes. Shibano T, et al. PLoS One, 2015. PMID 25946333, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with NEMP1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0286, DKFZp686N1768

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in erythrocyte enucleation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in erythrocyte maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in nuclear membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear envelope ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nuclear envelope integral membrane protein 1
    Names
    transmembrane protein 194
    transmembrane protein 194A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001130963.2 → NP_001124435.1  nuclear envelope integral membrane protein 1 isoform a precursor

      See identical proteins and their annotated locations for NP_001124435.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB006624, AL833310, BQ001525, DB123768
      Consensus CDS
      CCDS44927.1
      UniProtKB/Swiss-Prot
      O14524, Q17R72, Q68DH0, Q6IQ25
      Related
      ENSP00000300128.4, ENST00000300128.9
      Conserved Domains (1) summary
      pfam10225
      Location:154 → 398
      DUF2215; Uncharacterized conserved protein (DUF2215)

    2. NM_015257.3 → NP_056072.2  nuclear envelope integral membrane protein 1 isoform b precursor

      See identical proteins and their annotated locations for NP_056072.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AB006624, AL833310, BC126300, BQ001525, DA724501
      Consensus CDS
      CCDS31841.1
      UniProtKB/Swiss-Prot
      O14524
      Related
      ENSP00000368701.3, ENST00000379391.7
      Conserved Domains (1) summary
      pfam10225
      Location:109 → 325
      NEMP; NEMP family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57055643..57088627 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538058.4 → XP_011536360.1  nuclear envelope integral membrane protein 1 isoform X3

      Conserved Domains (1) summary
      pfam10225
      Location:157 → 373
      DUF2215; Uncharacterized conserved protein (DUF2215)

    2. XM_011538056.3 → XP_011536358.1  nuclear envelope integral membrane protein 1 isoform X1

      Conserved Domains (1) summary
      pfam10225
      Location:202 → 446
      DUF2215; Uncharacterized conserved protein (DUF2215)

    3. XM_024448900.1 → XP_024304668.1  nuclear envelope integral membrane protein 1 isoform X2

      Conserved Domains (1) summary
      pfam10225
      Location:162 → 406
      NEMP; NEMP family

    4. XM_047428587.1 → XP_047284543.1  nuclear envelope integral membrane protein 1 isoform X2

    5. XM_047428589.1 → XP_047284545.1  nuclear envelope integral membrane protein 1 isoform X4

    6. XM_047428590.1 → XP_047284546.1  nuclear envelope integral membrane protein 1 isoform X6

    7. XM_011538060.3 → XP_011536362.1  nuclear envelope integral membrane protein 1 isoform X5

      Conserved Domains (1) summary
      pfam10225
      Location:202 → 261
      DUF2215; Uncharacterized conserved protein (DUF2215)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57023514..57056589 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371544.1 → XP_054227519.1  nuclear envelope integral membrane protein 1 isoform X1

    2. XM_054371546.1 → XP_054227521.1  nuclear envelope integral membrane protein 1 isoform X3

    3. XM_054371545.1 → XP_054227520.1  nuclear envelope integral membrane protein 1 isoform X2

    4. XM_054371547.1 → XP_054227522.1  nuclear envelope integral membrane protein 1 isoform X4

    5. XM_054371549.1 → XP_054227524.1  nuclear envelope integral membrane protein 1 isoform X6

    6. XM_054371548.1 → XP_054227523.1  nuclear envelope integral membrane protein 1 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14524.2 GenPept UniProtKB/Swiss-Prot:O14524

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