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

Gene ID: 23306, updated on 5-Mar-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 integral component of membrane. Predicted to be active in nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 5.8), testis (RPKM 5.0) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57055643..57088627, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57023514..57056589, complement)
105.20220307 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
  • 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 (34) 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
  
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_2023_10

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

Gene LinkOut

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