Aliases for AJM1 Gene

Aliases for AJM1 Gene

  • Apical Junction Component 1 Homolog 2 3 4 5
  • C9orf172 3 4
  • Ajm-1 2 3
  • Chromosome 9 Open Reading Frame 172 2
  • Uncharacterized Protein C9orf172 3
  • AJM1 5

External Ids for AJM1 Gene

Previous HGNC Symbols for AJM1 Gene

  • C9orf172

Summaries for AJM1 Gene

GeneCards Summary for AJM1 Gene

AJM1 (Apical Junction Component 1 Homolog) is a Protein Coding gene. Diseases associated with AJM1 include Acute Endophthalmitis and Purulent Endophthalmitis.

UniProtKB/Swiss-Prot Summary for AJM1 Gene

Additional gene information for AJM1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AJM1 Gene

Genomics for AJM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AJM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AJM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AJM1

Genomic Locations for AJM1 Gene

Genomic Locations for AJM1 Gene
chr9:136,842,478-136,848,801
(GRCh38/hg38)
Size:
6,324 bases
Orientation:
Plus strand
chr9:139,738,867-139,741,797
(GRCh37/hg19)
Size:
2,931 bases
Orientation:
Plus strand

Genomic View for AJM1 Gene

Genes around AJM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AJM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AJM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AJM1 Gene

Proteins for AJM1 Gene

  • Protein details for AJM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    C9J069-AJM1_HUMAN
    Recommended name:
    Apical junction component 1 homolog
    Protein Accession:
    C9J069

    Protein attributes for AJM1 Gene

    Size:
    976 amino acids
    Molecular mass:
    106650 Da
    Quaternary structure:
    No Data Available

neXtProt entry for AJM1 Gene

Post-translational modifications for AJM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AJM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AJM1 Gene

Domains & Families for AJM1 Gene

Gene Families for AJM1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AJM1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with AJM1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AJM1 Gene

Function for AJM1 Gene

Molecular function for AJM1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the control of adherens junction integrity.

Phenotypes From GWAS Catalog for AJM1 Gene

Phenotypes for AJM1 Gene

GenomeRNAi human phenotypes for AJM1:
genes like me logo Genes that share phenotypes with AJM1: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for AJM1 Gene

Localization for AJM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AJM1 Gene

Apical cell membrane. Cell projection, cilium. Cell junction, adherens junction.

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 AJM1 gene
Compartment Confidence
plasma membrane 4
nucleus 3
cytosol 3
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AJM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005912 adherens junction IEA --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with AJM1: view

Pathways & Interactions for AJM1 Gene

PathCards logo

SuperPathways for AJM1 Gene

No Data Available

Interacting Proteins for AJM1 Gene

Selected Interacting proteins: C9J069-AJM1_HUMAN for AJM1 Gene via IID

Gene Ontology (GO) - Biological Process for AJM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045216 cell-cell junction organization IEA --
genes like me logo Genes that share ontologies with AJM1: view

No data available for Pathways by source and SIGNOR curated interactions for AJM1 Gene

Drugs & Compounds for AJM1 Gene

No Compound Related Data Available

Transcripts for AJM1 Gene

mRNA/cDNA for AJM1 Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for AJM1 Gene

No ASD Table

Relevant External Links for AJM1 Gene

GeneLoc Exon Structure for
AJM1

Expression for AJM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AJM1

No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for AJM1 Gene

Orthologs for AJM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AJM1 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia C9orf172 31
  • 90 (a)
OneToOne
C9H9orf172 30
  • 87.66 (n)
Cow
(Bos Taurus)
Mammalia C9orf172 31
  • 89 (a)
OneToOne
C11H9orf172 30
  • 86.67 (n)
Mouse
(Mus musculus)
Mammalia Gm996 30 31
  • 81.57 (n)
OneToOne
Ajm1 17
Rat
(Rattus norvegicus)
Mammalia RGD1560470 30
  • 81.5 (n)
Oppossum
(Monodelphis domestica)
Mammalia C9orf172 31
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C17H9ORF172 30
  • 68.91 (n)
C9orf172 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495930 30
  • 61.09 (n)
Zebrafish
(Danio rerio)
Actinopterygii C5H9orf172 (1 of 2) 31
  • 47 (a)
OneToMany
C5H9orf172 (2 of 2) 31
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012545 30
  • 55.08 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG42748 31
  • 10 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea ajm-1 31
  • 10 (a)
OneToOne
Species where no ortholog for AJM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 AJM1 Gene

ENSEMBL:
Gene Tree for AJM1 (if available)
TreeFam:
Gene Tree for AJM1 (if available)

Paralogs for AJM1 Gene

Pseudogenes.org Pseudogenes for AJM1 Gene

genes like me logo Genes that share paralogs with AJM1: view

No data available for Paralogs for AJM1 Gene

Variants for AJM1 Gene

Additional dbSNP identifiers (rs#s) for AJM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AJM1 Gene

Variant ID Type Subtype PubMed ID
esv2422220 CNV deletion 17116639
esv2759720 CNV loss 17122850
esv29973 CNV loss 17803354
esv3622017 CNV gain 21293372
nsv469918 CNV loss 18288195
nsv524322 CNV loss 19592680
nsv615985 CNV loss 21841781
nsv818738 CNV gain 17921354
nsv8582 CNV gain 18304495
nsv951205 CNV deletion 24416366

Variation tolerance for AJM1 Gene

Gene Damage Index Score: 1.69; 32.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AJM1 Gene

Human Gene Mutation Database (HGMD)
AJM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AJM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AJM1 Gene

Disorders for AJM1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AJM1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search AJM1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AJM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AJM1 Gene

Publications for AJM1 Gene

  1. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4

Products for AJM1 Gene

Sources for AJM1 Gene