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Aliases for AJM1 Gene

Aliases for AJM1 Gene

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

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.

UniProtKB/Swiss-Prot for AJM1 Gene

  • May be involved in the control of adherens junction integrity.

Additional gene information for AJM1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AJM1 Gene

Genomics for AJM1 Gene

GeneHancer (GH) Regulatory Elements for AJM1 Gene

Promoters and enhancers for AJM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J136884 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.4 +41.9 41860 3.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B E2F8 LOC105376326 MIR4479 TRAF2 EHMT1 ENTR1 ANAPC2 PHPT1 SNHG7 LOC100418938 MAMDC4
GH09J137422 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.9 +579.3 579278 3.3 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF766 CBX5 NOXA1 EXD3 NPDC1 AJM1 CACNA1B ENTPD8
GH09J136684 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.9 -157.3 -157261 4.7 SIN3A IRF4 YY1 POLR2B ZNF207 ZNF143 JUNB REST SMARCB1 ZNF592 AGPAT2 DPH7 INPP5E ANAPC2 EXD3 SNAPC4 MAN1B1 ARRDC1-AS1 EHMT1 QSOX2
GH09J136881 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 12.4 +38.2 38247 2.7 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS TRAF2 PHPT1 MAMDC4 AJM1 TMEM141 LCN12 PRR31 FBXW5 C8G RABL6
GH09J136358 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.9 -482.8 -482814 5.5 HDGF SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B DNLZ RABL6 INPP5E ANAPC2 MAN1B1 SNAPC4 SNHG7 NPDC1 ENTR1 CARD9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AJM1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for AJM1 Gene

Genomic Locations for AJM1 Gene
chr9:136,844,415-136,848,801
(GRCh38/hg38)
Size:
4,387 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

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences 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

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

Animal Model Products

Clone Products

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
nucleus 3
cytosol 3

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:0005912 adherens junction IEA --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with AJM1: view

Pathways & Interactions for AJM1 Gene

No Data Available

Interacting Proteins for AJM1 Gene

Gene Ontology (GO) - Biological Process for AJM1 Gene

None

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) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

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

No ASD Table

Relevant External Links for AJM1 Gene

GeneLoc Exon Structure for
AJM1
ECgene alternative splicing isoforms for
AJM1

Expression for AJM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AJM1 Gene:

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 34
  • 90 (a)
OneToOne
C9H9orf172 33
  • 87.66 (n)
cow
(Bos Taurus)
Mammalia C9orf172 34
  • 89 (a)
OneToOne
C11H9orf172 33
  • 86.67 (n)
mouse
(Mus musculus)
Mammalia Gm996 34 33
  • 81.57 (n)
OneToOne
Ajm1 16
rat
(Rattus norvegicus)
Mammalia RGD1560470 33
  • 81.5 (n)
oppossum
(Monodelphis domestica)
Mammalia C9orf172 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves C17H9ORF172 33
  • 68.91 (n)
C9orf172 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495930 33
  • 61.09 (n)
zebrafish
(Danio rerio)
Actinopterygii C5H9orf172 (1 of 2) 34
  • 47 (a)
OneToMany
C5H9orf172 (2 of 2) 34
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012545 33
  • 55.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42748 34
  • 10 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ajm-1 34
  • 10 (a)
OneToOne
Species where no ortholog for AJM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Sequence variations from dbSNP and Humsavar for AJM1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1001107357 -- 136,844,776(+) A/G coding_sequence_variant, missense_variant
rs1002316479 -- 136,844,219(+) G/A upstream_transcript_variant
rs1002612359 -- 136,843,281(+) C/T upstream_transcript_variant
rs1002673010 -- 136,842,884(+) C/G upstream_transcript_variant
rs1002755557 -- 136,843,970(+) C/T upstream_transcript_variant

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

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

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 for AJM1 Gene

Disorders for AJM1 Gene

Additional Disease Information for AJM1

No disorders were found for AJM1 Gene.

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

Publications for AJM1 Gene

  1. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4 58

Products for AJM1 Gene

Sources for AJM1 Gene

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