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    MON1A MON1 homolog A, secretory trafficking associated [ Homo sapiens (human) ]

    Gene ID: 84315, updated on 17-Jun-2024

    Summary

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    Official Symbol
    MON1Aprovided by HGNC
    Official Full Name
    MON1 homolog A, secretory trafficking associatedprovided by HGNC
    Primary source
    HGNC:HGNC:28207
    See related
    Ensembl:ENSG00000164077 MIM:611464; AllianceGenome:HGNC:28207
    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
    SAND1
    Summary
    Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in protein secretion. Predicted to act upstream of or within cellular iron ion homeostasis and protein transport. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in duodenum (RPKM 6.4), testis (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MON1A in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49908873..49929811, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49938770..49959744, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49946306..49967244, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49921589-49922090 Neighboring gene actin like 11, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49934943-49935443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49939657-49940330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49940331-49941004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49941679-49942351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19883 Neighboring gene macrophage stimulating 1 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49949147-49949724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14377 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49977213-49977735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49977736-49978257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14379 Neighboring gene RNA binding motif protein 6 Neighboring gene NANOG hESC enhancer GRCh37_chr3:50050258-50050926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50119658-50120158 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:50120996-50121560 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50126209-50126800 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50126801-50127391 Neighboring gene MPRA-validated peak4650 silencer Neighboring gene RBM5 antisense RNA 1 Neighboring gene RNA binding motif protein 5

    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. Mon1a protein acts in trafficking through the secretory apparatus. Bagley DC, et al. J Biol Chem, 2012 Jul 20. PMID 22665492, Free PMC Article
    2. TRIM39 deficiency inhibits tumor progression and autophagic flux in colorectal cancer via suppressing the activity of Rab7. Hu J, et al. Cell Death Dis, 2021 Apr 12. PMID 33846303, Free PMC Article
    3. Identification of two evolutionarily conserved genes regulating processing of engulfed apoptotic cells. Kinchen JM, et al. Nature, 2010 Apr 1. PMID 20305638, Free PMC Article
    4. Systematic Analysis of Human Cells Lacking ATG8 Proteins Uncovers Roles for GABARAPs and the CCZ1/MON1 Regulator C18orf8/RMC1 in Macroautophagic and Selective Autophagic Flux. Vaites LP, et al. Mol Cell Biol, 2018 Jan 1. PMID 29038162, Free PMC Article
    5. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. Gerondopoulos A, et al. Curr Biol, 2012 Nov 20. PMID 23084991, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. a role for Mon1a in anterograde trafficking through the secretory apparatus.
      Title: Mon1a protein acts in trafficking through the secretory apparatus.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ97088, MGC13272

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein targeting to vacuole IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Mon1-Ccz1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Mon1-Ccz1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    vacuolar fusion protein MON1 homolog A
    Names
    MON1 secretory trafficking family member A

    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_001142501.2 → NP_001135973.2  vacuolar fusion protein MON1 homolog A isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AC105935
      Consensus CDS
      CCDS46830.2
      Related
      ENSP00000404793.3, ENST00000455683.7
      Conserved Domains (1) summary
      pfam03164
      Location:38 → 392
      Mon1; Trafficking protein Mon1

    2. NM_032355.4 → NP_115731.3  vacuolar fusion protein MON1 homolog A isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC105935
      Consensus CDS
      CCDS2808.3
      UniProtKB/TrEMBL
      A0A0A0MSQ9
      Related
      ENSP00000296473.4, ENST00000296473.8
      Conserved Domains (1) summary
      pfam03164
      Location:154 → 554
      Mon1; Trafficking protein Mon1

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49908873..49929811 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713345.5 → XP_006713408.1  vacuolar fusion protein MON1 homolog A isoform X1

      See identical proteins and their annotated locations for XP_006713408.1

      UniProtKB/TrEMBL
      A0A0A0MSQ9
      Related
      ENSP00000494452.1, ENST00000645862.1
      Conserved Domains (1) summary
      pfam03164
      Location:154 → 554
      Mon1; Trafficking protein Mon1

    2. XM_011534160.2 → XP_011532462.1  vacuolar fusion protein MON1 homolog A isoform X1

      See identical proteins and their annotated locations for XP_011532462.1

      UniProtKB/TrEMBL
      A0A0A0MSQ9
      Conserved Domains (1) summary
      pfam03164
      Location:154 → 554
      Mon1; Trafficking protein Mon1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49938770..49959744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348089.1 → XP_054204064.1  vacuolar fusion protein MON1 homolog A isoform X1

      UniProtKB/TrEMBL
      A0A0A0MSQ9

    2. XM_054348090.1 → XP_054204065.1  vacuolar fusion protein MON1 homolog A isoform X1

      UniProtKB/TrEMBL
      A0A0A0MSQ9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VX9.3 GenPept UniProtKB/Swiss-Prot:Q86VX9

    Gene LinkOut

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

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