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Aliases for MON1A Gene

Aliases for MON1A Gene

  • MON1 Homolog A, Secretory Trafficking Associated 2 3 5
  • MON1 Secretory Trafficking Family Member A 2 3
  • SAND1 3 4
  • Vacuolar Fusion Protein MON1 Homolog A 3
  • MON1 Homolog A (Yeast) 2

External Ids for MON1A Gene

Previous GeneCards Identifiers for MON1A Gene

  • GC03M049923

Summaries for MON1A Gene

GeneCards Summary for MON1A Gene

MON1A (MON1 Homolog A, Secretory Trafficking Associated) is a Protein Coding gene. Diseases associated with MON1A include Extrahepatic Bile Duct Adenocarcinoma and Space Motion Sickness. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. An important paralog of this gene is MON1B.

UniProtKB/Swiss-Prot for MON1A Gene

  • Plays an important role in membrane trafficking through the secretory apparatus. Not involved in endocytic trafficking to lysosomes (By similarity). Acts in concert with CCZ1, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MON1A Gene

Genomics for MON1A Gene

Regulatory Elements for MON1A Gene

Enhancers for MON1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G050154 2 FANTOM5 Ensembl ENCODE dbSUPER 14 -233.5 -233453 18.7 FOXA2 PKNOX1 ARNT MLX ZFP64 SIN3A ARID4B FEZF1 DMAP1 ZNF2 RBM6 RBM5 MON1A GNAI2 HYAL3 SEMA3F CYB561D2 CCDC36 MAPKAPK3 KLHDC8B
GH03G050188 1.3 Ensembl ENCODE 9.5 -259.1 -259096 1.2 HDGF CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 GNAI2 SEMA3F SEMA3F-AS1 SEMA3B-AS1 SEMA3B LSMEM2 IFRD2 HYAL3 MON1A RBM6
GH03G050192 1.3 Ensembl ENCODE 9.4 -264.1 -264065 4.3 PKNOX1 FOXA2 ARID4B DMAP1 FEZF1 ZNF2 YY1 SLC30A9 ZNF143 FOS HYAL3 RBM6 GNAI2 SEMA3F-AS1 SEMA3F SEMA3B-AS1 SEMA3B LSMEM2 HYAL1 IFRD2
GH03G050049 1 ENCODE 11.4 -120.2 -120157 1.8 ATF1 PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF143 FOS RBM6 RBM5 MON1A DOCK3
GH03G050100 0.7 ENCODE 10.3 -170.8 -170821 1.2 PAF1 MAZ ZNF398 ZBTB8A OSR2 GLIS2 ZNF692 KDM1A PRDM10 RBFOX2 RBM6 SEMA3F-AS1 SEMA3F MON1A RBM5-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MON1A on UCSC Golden Path with GeneCards custom track

Promoters for MON1A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152288 757 1201 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3

Genomic Location for MON1A Gene

Chromosome:
3
Start:
49,908,862 bp from pter
End:
49,930,357 bp from pter
Size:
21,496 bases
Orientation:
Minus strand

Genomic View for MON1A Gene

Genes around MON1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MON1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MON1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MON1A Gene

Proteins for MON1A Gene

  • Protein details for MON1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VX9-MON1A_HUMAN
    Recommended name:
    Vacuolar fusion protein MON1 homolog A
    Protein Accession:
    Q86VX9
    Secondary Accessions:
    • B2RDQ1
    • G5E9N1
    • Q8NAV7
    • Q9BRF3

    Protein attributes for MON1A Gene

    Size:
    555 amino acids
    Molecular mass:
    62131 Da
    Quaternary structure:
    • Interacts with CCZ1 (PubMed:23084991).
    SequenceCaution:
    • Sequence=AAH47022.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MON1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MON1A Gene

Post-translational modifications for MON1A Gene

  • Ubiquitination at posLast=166166
  • Modification sites at PhosphoSitePlus

Other Protein References for MON1A Gene

No data available for DME Specific Peptides for MON1A Gene

Domains & Families for MON1A Gene

Protein Domains for MON1A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MON1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86VX9

UniProtKB/Swiss-Prot:

MON1A_HUMAN :
  • Belongs to the MON1/SAND family.
Family:
  • Belongs to the MON1/SAND family.
genes like me logo Genes that share domains with MON1A: view

No data available for Gene Families for MON1A Gene

Function for MON1A Gene

Molecular function for MON1A Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in membrane trafficking through the secretory apparatus. Not involved in endocytic trafficking to lysosomes (By similarity). Acts in concert with CCZ1, as a guanine exchange factor (GEF) for RAB7, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form (PubMed:23084991).

Gene Ontology (GO) - Molecular Function for MON1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 23084991
GO:0005515 protein binding IPI 23084991
genes like me logo Genes that share ontologies with MON1A: view
genes like me logo Genes that share phenotypes with MON1A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MON1A Gene

Localization for MON1A Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MON1A gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for MON1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with MON1A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MON1A Gene

Pathways & Interactions for MON1A Gene

genes like me logo Genes that share pathways with MON1A: view

Pathways by source for MON1A Gene

Gene Ontology (GO) - Biological Process for MON1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009306 protein secretion IBA --
GO:0016192 vesicle-mediated transport IBA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with MON1A: view

No data available for SIGNOR curated interactions for MON1A Gene

Drugs & Compounds for MON1A Gene

No Compound Related Data Available

Transcripts for MON1A Gene

Unigene Clusters for MON1A Gene

MON1 homolog A (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MON1A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8 ^ 9
SP1: - - - - -
SP2: - - - - - - - - - -
SP3: - - - -
SP4: -
SP5: - - - - - - - - - -
SP6: - - -
SP7: - -

Relevant External Links for MON1A Gene

GeneLoc Exon Structure for
MON1A
ECgene alternative splicing isoforms for
MON1A

Expression for MON1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MON1A Gene

Protein differential expression in normal tissues from HIPED for MON1A Gene

This gene is overexpressed in Testis (29.4), Fetal Brain (9.9), Retina (7.9), and Blymphocyte (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MON1A Gene



Protein tissue co-expression partners for MON1A Gene

NURSA nuclear receptor signaling pathways regulating expression of MON1A Gene:

MON1A

SOURCE GeneReport for Unigene cluster for MON1A Gene:

Hs.655014

Evidence on tissue expression from TISSUES for MON1A Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Lung(4.1)
  • Heart(3.3)
  • Muscle(3.1)
  • Stomach(2.9)
  • Intestine(2.6)
  • Kidney(2.6)
genes like me logo Genes that share expression patterns with MON1A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MON1A Gene

Orthologs for MON1A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MON1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MON1A 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia MON1A 34 35
  • 92.31 (n)
cow
(Bos Taurus)
Mammalia MON1A 34 35
  • 90.57 (n)
rat
(Rattus norvegicus)
Mammalia Mon1a 34
  • 89.88 (n)
mouse
(Mus musculus)
Mammalia Mon1a 34 16 35
  • 89.55 (n)
oppossum
(Monodelphis domestica)
Mammalia MON1A 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MON1A 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves MON1A 34 35
  • 77.03 (n)
lizard
(Anolis carolinensis)
Reptilia MON1A 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mon1a 34
  • 64.63 (n)
Str.16768 34
zebrafish
(Danio rerio)
Actinopterygii mon1a 34 35
  • 65.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11926 34 35
  • 53.73 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009931 34
  • 50.98 (n)
worm
(Caenorhabditis elegans)
Secernentea sand-1 34 35
  • 40.98 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR175C 34
  • 47.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MON1 34 35 37
  • 38.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU09220 34
  • 42.47 (n)
Species where no ortholog for MON1A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MON1A Gene

ENSEMBL:
Gene Tree for MON1A (if available)
TreeFam:
Gene Tree for MON1A (if available)

Paralogs for MON1A Gene

Paralogs for MON1A Gene

(1) SIMAP similar genes for MON1A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MON1A: view

Variants for MON1A Gene

Sequence variations from dbSNP and Humsavar for MON1A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000097935 -- 49,927,176(+) GTGAT(A/G)TGGCC intron-variant
rs1000760908 -- 49,917,256(+) CACCC(A/G)GCCTG intron-variant, downstream-variant-500B
rs1000854662 -- 49,917,433(+) GGCGC(C/T)CGCCA intron-variant, downstream-variant-500B
rs1001200570 -- 49,926,536(+) ACTGT(A/G)GCCCT intron-variant
rs1001367721 -- 49,911,474(+) GCTAT(A/G)AATGA intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for MON1A Gene

Variant ID Type Subtype PubMed ID
nsv1114376 CNV deletion 24896259
nsv1116988 CNV deletion 24896259
nsv1139115 CNV deletion 24896259
nsv834688 CNV loss 17160897
nsv834689 CNV loss 17160897

Variation tolerance for MON1A Gene

Residual Variation Intolerance Score: 7.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MON1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MON1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MON1A Gene

Disorders for MON1A Gene

MalaCards: The human disease database

(2) MalaCards diseases for MON1A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
extrahepatic bile duct adenocarcinoma
  • adenocarcinoma of extrahepatic bile duct
space motion sickness
- elite association - COSMIC cancer census association via MalaCards
Search MON1A in MalaCards View complete list of genes associated with diseases

Relevant External Links for MON1A

Genetic Association Database (GAD)
MON1A
Human Genome Epidemiology (HuGE) Navigator
MON1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MON1A
genes like me logo Genes that share disorders with MON1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MON1A Gene

Publications for MON1A Gene

  1. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. (PMID: 23084991) Gerondopoulos A. … Barr F.A. (Curr. Biol. 2012) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for MON1A Gene

Sources for MON1A Gene

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