U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 84315, updated on 7-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
vacuolar fusion protein MON1 homolog A
Names
MON1 secretory trafficking family member A

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

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

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous