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    MINAR1 membrane integral NOTCH2 associated receptor 1 [ Homo sapiens (human) ]

    Gene ID: 23251, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MINAR1provided by HGNC
    Official Full Name
    membrane integral NOTCH2 associated receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:29172
    See related
    Ensembl:ENSG00000169330 MIM:618054; AllianceGenome:HGNC:29172
    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
    UBTOR; KIAA1024
    Summary
    Involved in several processes, including negative regulation of TOR signaling; negative regulation of angiogenesis; and negative regulation of protein ubiquitination. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in adrenal (RPKM 4.7), salivary gland (RPKM 0.6) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See MINAR1 in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (79411400..79472304)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (77274741..77335653)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (79724678..79764646)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ANKRD34C antisense RNA 1 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:79574999-79575538 Neighboring gene ankyrin repeat domain 34C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:79621073-79622272 Neighboring gene transmembrane p24 trafficking protein 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:79665964-79666609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9932 Neighboring gene NANOG hESC enhancer GRCh37_chr15:79711103-79711636 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:79756173-79757372 Neighboring gene uncharacterized LOC105370918 Neighboring gene uncharacterized LOC105370919 Neighboring gene TFDP1 pseudogene 3

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel functional variants in the Notch pathway and survival of Chinese colorectal cancer.
      Title: Novel functional variants in the Notch pathway and survival of Chinese colorectal cancer.
    2. MINAR1 physically interacts with Notch2 and its binding to Notch2 increases its stability and function. While MINAR1 is highly expressed in the normal human breast, its expression is significantly downregulated in advanced human breast cancer and its re-expression in breast cancer cells inhibited tumor growth.
      Title: MINAR1 is a Notch2-binding protein that inhibits angiogenesis and breast cancer growth.
    3. Ubtor inhibits mTOR signaling by stabilizing the mTOR complex component DEPTOR. Inhibiting Ubtor function promotes cell growth in neurons and cancer cells. Increasing Ubtor function reduces cancer cell growth.
      Title: UBTOR/KIAA1024 regulates neurite outgrowth and neoplasia through mTOR signaling.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of TOR signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    major intrinsically disordered Notch2-binding receptor 1
    Names
    major intrinsically disordered Notch2-associated receptor 1
    ubiquitination and mTOR signaling protein

    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_015206.3 → NP_056021.1  major intrinsically disordered Notch2-binding receptor 1

      See identical proteins and their annotated locations for NP_056021.1

      Status: VALIDATED

      Source sequence(s)
      AC105231
      Consensus CDS
      CCDS32306.1
      UniProtKB/Swiss-Prot
      A7MD43, Q9UPX6
      UniProtKB/TrEMBL
      H0YNN7
      Related
      ENSP00000307461.3, ENST00000305428.8
      Conserved Domains (1) summary
      pfam06789
      Location:759 → 914
      UPF0258; Uncharacterized protein family (UPF0258)

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      79411400..79472304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022027.2 → XP_016877516.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

      UniProtKB/Swiss-Prot
      A7MD43, Q9UPX6
      UniProtKB/TrEMBL
      H0YNN7
      Conserved Domains (1) summary
      pfam06789
      Location:759 → 914
      UPF0258; Uncharacterized protein family (UPF0258)

    2. XM_011521392.2 → XP_011519694.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_011519694.1

      UniProtKB/Swiss-Prot
      A7MD43, Q9UPX6
      UniProtKB/TrEMBL
      H0YNN7
      Conserved Domains (1) summary
      pfam06789
      Location:759 → 914
      UPF0258; Uncharacterized protein family (UPF0258)

    3. XM_011521395.3 → XP_011519697.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_011519697.1

      UniProtKB/Swiss-Prot
      A7MD43, Q9UPX6
      UniProtKB/TrEMBL
      H0YNN7
      Conserved Domains (1) summary
      pfam06789
      Location:759 → 914
      UPF0258; Uncharacterized protein family (UPF0258)

    4. XM_011521396.3 → XP_011519698.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_011519698.1

      UniProtKB/Swiss-Prot
      A7MD43, Q9UPX6
      UniProtKB/TrEMBL
      H0YNN7
      Conserved Domains (1) summary
      pfam06789
      Location:759 → 914
      UPF0258; Uncharacterized protein family (UPF0258)

    5. XM_011521393.4 → XP_011519695.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

      See identical proteins and their annotated locations for XP_011519695.1

      UniProtKB/Swiss-Prot
      A7MD43, Q9UPX6
      UniProtKB/TrEMBL
      H0YNN7
      Conserved Domains (1) summary
      pfam06789
      Location:759 → 914
      UPF0258; Uncharacterized protein family (UPF0258)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      77274741..77335653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377565.1 → XP_054233540.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

    2. XM_054377563.1 → XP_054233538.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

    3. XM_054377564.1 → XP_054233539.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

    4. XM_054377566.1 → XP_054233541.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

    5. XM_054377567.1 → XP_054233542.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

    6. XM_054377568.1 → XP_054233543.1  major intrinsically disordered Notch2-binding receptor 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UPX6.3 GenPept UniProtKB/Swiss-Prot:Q9UPX6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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