Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AJM1 Gene

Aliases for AJM1 Gene

  • Apical Junction Component 1 Homolog 2 3
  • C9orf172 3 4 5
  • Chromosome 9 Open Reading Frame 172 2 5
  • 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.

Additional gene information for AJM1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , 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
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I136884 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.4 +41.9 41860 3.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B POLR2B E2F8 ZNF207 LOC105376326 MIR4479 TRAF2 EHMT1 SDCCAG3 ANAPC2 PHPT1 SNHG7 LOC651337 MAMDC4
GH09I137422 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.9 +579.3 579278 3.3 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B ZNF766 CBX5 ZNF213 NOXA1 EXD3 NPDC1 AJM1 CACNA1B ENTPD8
GH09I136684 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 EXD3 ARRDC1-AS1 ANAPC2 QSOX2 NPDC1 AJM1 SNAPC4
GH09I136358 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 INPP5E ANAPC2 SNHG7 NPDC1 SDCCAG3 MAN1B1 SNAPC4 CARD9 AJM1
GH09I136725 Promoter/Enhancer 1.6 Ensembl ENCODE 11 -117.0 -116967 4.1 CLOCK MLX DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC SSRP1 SNHG7 ENSG00000281808 GC09M136753 GC09M136755 GC09M136756 SNORA17A SNORA17B DPH7 EHMT1 ANAPC2
- 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
4,387 bases
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:
    Recommended name:
    Uncharacterized protein C9orf172
    Protein Accession:

    Protein attributes for AJM1 Gene

    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


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

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

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , 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

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for AJM1 Gene

Pathways & Interactions for AJM1 Gene

No Data Available

Interacting Proteins for AJM1 Gene

Gene Ontology (GO) - Biological Process for AJM1 Gene


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 :

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for

Expression for AJM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AJM1 Gene:

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
(Canis familiaris)
Mammalia C9orf172 34
  • 90 (a)
C9H9orf172 33
  • 87.66 (n)
(Bos Taurus)
Mammalia C9orf172 34
  • 89 (a)
C11H9orf172 33
  • 86.67 (n)
(Mus musculus)
Mammalia Gm996 33 16 34
  • 81.57 (n)
(Rattus norvegicus)
Mammalia RGD1560470 33
  • 81.5 (n)
(Monodelphis domestica)
Mammalia C9orf172 34
  • 71 (a)
(Gallus gallus)
Aves C17H9ORF172 33
  • 68.91 (n)
C9orf172 34
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495930 33
  • 61.09 (n)
(Danio rerio)
Actinopterygii C5H9orf172 (1 of 2) 34
  • 47 (a)
C5H9orf172 (2 of 2) 34
  • 40 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012545 33
  • 55.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42748 34
  • 10 (a)
(Caenorhabditis elegans)
Secernentea ajm-1 34
  • 10 (a)
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

Gene Tree for AJM1 (if available)
Gene Tree for AJM1 (if available)

Paralogs for AJM1 Gene 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
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

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Loading form....