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    MON1B MON1 homolog B, secretory trafficking associated [ Homo sapiens (human) ]

    Gene ID: 22879, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MON1Bprovided by HGNC
    Official Full Name
    MON1 homolog B, secretory trafficking associatedprovided by HGNC
    Primary source
    HGNC:HGNC:25020
    See related
    Ensembl:ENSG00000103111 MIM:608954; AllianceGenome:HGNC:25020
    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
    SRG1; HSRG1; SAND2
    Summary
    Involved in early viral transcription and late viral transcription. Located in cytoplasm. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 20.4), thyroid (RPKM 15.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MON1B in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (77191190..77202398)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (83247364..83258572)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (77225087..77236295)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903724 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_44883 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:77098253-77098456 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:77113401-77113619 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_44931 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_44984 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45056 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45073 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45133 Neighboring gene MPRA-validated peak2646 silencer Neighboring gene uncharacterized LOC124903725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:77224805-77225753 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45171 Neighboring gene uncharacterized LOC124903726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:77246135-77247108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11151 Neighboring gene synaptonemal complex central element protein 1 like Neighboring gene vomeronasal 2 receptor 10, pseudogene

    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. Identification of a novel human sand family protein in human fibroblasts induced by herpes simplex virus 1 binding. Dong S, et al. Acta Virol, 2003. PMID 12828340
    2. Protein encoded by HSV-1 stimulation-related gene 1 (HSRG1) interacts with and inhibits SV40 large T antigen. Guo HX, et al. Cell Prolif, 2006 Dec. PMID 17109635, Free PMC Article
    3. Numb regulates vesicular docking for homotypic fusion of early endosomes via membrane recruitment of Mon1b. Shao X, et al. Cell Res, 2016 May. PMID 26987402, Free PMC Article
    4. HSV-1 stimulation-related protein HSRG1 inhibits viral gene transcriptional elongation by interacting with Cyclin T2. Wu W, et al. Sci China Life Sci, 2011 Apr. PMID 21509660
    5. 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

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Numb binds to another docking regulator, Mon1b, and is required for the recruitment of cytosolic Mon1b to the early endosomes membrane.
      Title: Numb regulates vesicular docking for homotypic fusion of early endosomes via membrane recruitment of Mon1b.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    3. HSRG1 interacts with SV40 large T antigen (LT) in yeast two-hybrid assay
      Title: Protein encoded by HSV-1 stimulation-related gene 1 (HSRG1) interacts with and inhibits SV40 large T antigen.
    4. Identification of HSV-1 stimulation-related gene 1, a novel sand family protein, induced by herpes simplex virus 1 binding. (HSV-1 stimulation-related gene 1 (HSRG1)
      Title: Identification of a novel human sand family protein in human fibroblasts induced by herpes simplex virus 1 binding.
    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

    EBI GWAS Catalog

    Description
    Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
    EBI GWAS Catalog

    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

    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 early viral transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in late viral transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    vacuolar fusion protein MON1 homolog B
    Names
    HSV-1 stimulation-related gene 1 protein
    HSV-I stimulating-related protein
    MON1 secretory trafficking family member B

    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_001286639.2 → NP_001273568.1  vacuolar fusion protein MON1 homolog B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC009139
      Consensus CDS
      CCDS67083.1
      UniProtKB/TrEMBL
      B4DKA0, E7EW32
      Related
      ENSP00000404053.2, ENST00000439557.6
      Conserved Domains (1) summary
      pfam03164
      Location:48 → 416
      Mon1; Trafficking protein Mon1

    2. NM_001286640.2 → NP_001273569.1  vacuolar fusion protein MON1 homolog B isoform 3

      See identical proteins and their annotated locations for NP_001273569.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC009139
      Consensus CDS
      CCDS67082.1
      UniProtKB/TrEMBL
      Q6ZR87
      Related
      ENSP00000444881.1, ENST00000545553.1
      Conserved Domains (1) summary
      pfam03164
      Location:9 → 379
      Mon1; Trafficking protein Mon1

    3. NM_014940.4 → NP_055755.1  vacuolar fusion protein MON1 homolog B isoform 1

      See identical proteins and their annotated locations for NP_055755.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC009139
      Consensus CDS
      CCDS10925.1
      UniProtKB/Swiss-Prot
      B4DDZ0, O94949, Q7L1V2
      UniProtKB/TrEMBL
      B3KN76
      Related
      ENSP00000248248.3, ENST00000248248.8
      Conserved Domains (1) summary
      pfam03164
      Location:108 → 525
      Mon1; Trafficking protein Mon1

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      77191190..77202398
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      83247364..83258572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L1V2.1 GenPept UniProtKB/Swiss-Prot:Q7L1V2

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