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Aliases for AIM1 Gene

Aliases for AIM1 Gene

  • Absent In Melanoma 1 2 3 5
  • Suppression Of Tumorigenicity 4 (Malignant Melanoma) 2 3
  • Beta/Gamma Crystallin Domain-Containing Protein 1 3 4
  • Beta-Gamma Crystallin Domain Containing 1 2 3
  • CRYBG1 3 4
  • Suppression Of Tumorigenicity 4 2
  • ST4 3

External Ids for AIM1 Gene

Previous HGNC Symbols for AIM1 Gene

  • ST4

Previous GeneCards Identifiers for AIM1 Gene

  • GC06P106795
  • GC06P106982
  • GC06P106955
  • GC06P106854
  • GC06P106915
  • GC06P107066
  • GC06P104406

Summaries for AIM1 Gene

GeneCards Summary for AIM1 Gene

AIM1 (Absent In Melanoma 1) is a Protein Coding gene. Diseases associated with AIM1 include albinism, oculocutaneous, type iv and melanoma. GO annotations related to this gene include carbohydrate binding. An important paralog of this gene is AIM1L.

UniProtKB/Swiss-Prot for AIM1 Gene

  • May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton.

Gene Wiki entry for AIM1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AIM1 Gene

Genomics for AIM1 Gene

Regulatory Elements for AIM1 Gene

Promoters for AIM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AIM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AIM1 Gene

Chromosome:
6
Start:
106,360,808 bp from pter
End:
106,571,978 bp from pter
Size:
211,171 bases
Orientation:
Plus strand

Genomic View for AIM1 Gene

Genes around AIM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIM1 Gene

Proteins for AIM1 Gene

  • Protein details for AIM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4K1-AIM1_HUMAN
    Recommended name:
    Absent in melanoma 1 protein
    Protein Accession:
    Q9Y4K1
    Secondary Accessions:
    • B4DU04
    • O00296
    • Q5VWJ2

    Protein attributes for AIM1 Gene

    Size:
    1723 amino acids
    Molecular mass:
    188676 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for AIM1 Gene

    Alternative splice isoforms for AIM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AIM1 Gene

Proteomics data for AIM1 Gene at MOPED

Post-translational modifications for AIM1 Gene

  • Ubiquitination at Lys 988
  • Modification sites at PhosphoSitePlus

Other Protein References for AIM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AIM1 Gene

Domains & Families for AIM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y4K1

UniProtKB/Swiss-Prot:

AIM1_HUMAN :
  • Contains 12 beta/gamma crystallin Greek key domains.
  • Belongs to the beta/gamma-crystallin family.
Domain:
  • Contains 12 beta/gamma crystallin Greek key domains.
  • Contains 1 ricin B-type lectin domain.
Family:
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with AIM1: view

No data available for Gene Families for AIM1 Gene

Function for AIM1 Gene

Molecular function for AIM1 Gene

GENATLAS Biochemistry:
non-lens member of the beta-gamma crystallin superfamily,mitotic regulator playing a key role in the onset of cytokinesis during mitosis,involved in the control of tumorigenicity in malignant melanoma
UniProtKB/Swiss-Prot Function:
May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton.
genes like me logo Genes that share phenotypes with AIM1: view

Animal Models for AIM1 Gene

MGI Knock Outs for AIM1:
  • Aim1 tm1b(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for AIM1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AIM1 Gene

Localization for AIM1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AIM1 Gene COMPARTMENTS Subcellular localization image for AIM1 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for AIM1 Gene

Pathways & Interactions for AIM1 Gene

SuperPathways for AIM1 Gene

No Data Available

Interacting Proteins for AIM1 Gene

Gene Ontology (GO) - Biological Process for AIM1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for AIM1 Gene

Drugs & Compounds for AIM1 Gene

No Compound Related Data Available

Transcripts for AIM1 Gene

Unigene Clusters for AIM1 Gene

Absent in melanoma 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AIM1 Gene

No ASD Table

Relevant External Links for AIM1 Gene

GeneLoc Exon Structure for
AIM1
ECgene alternative splicing isoforms for
AIM1

Expression for AIM1 Gene

mRNA expression in normal human tissues for AIM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AIM1 Gene

This gene is overexpressed in Esophagus - Mucosa (x10.3).

Protein differential expression in normal tissues from HIPED for AIM1 Gene

This gene is overexpressed in Cervix (32.4), Lymph node (9.8), and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for AIM1 Gene



SOURCE GeneReport for Unigene cluster for AIM1 Gene Hs.724262

genes like me logo Genes that share expression patterns with AIM1: view

Protein tissue co-expression partners for AIM1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for AIM1 Gene

Orthologs for AIM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AIM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIM1 36
  • 98 (a)
OneToOne
AIM1 35
  • 99.23 (n)
  • 98.67 (a)
cow
(Bos Taurus)
Mammalia AIM1 36
  • 80 (a)
OneToOne
AIM1 35
  • 85.87 (n)
  • 81.17 (a)
dog
(Canis familiaris)
Mammalia AIM1 35
  • 81.85 (n)
  • 77.68 (a)
AIM1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aim1 16
Aim1 35
  • 81.05 (n)
  • 77.96 (a)
Aim1 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIM1 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AIM1 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aim1 35
  • 79.87 (n)
  • 76.76 (a)
chicken
(Gallus gallus)
Aves AIM1 35
  • 64.93 (n)
  • 57.18 (a)
AIM1 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 56 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.9757 35
tropical clawed frog
(Silurana tropicalis)
Amphibia aim1 35
  • 58.67 (n)
  • 50.65 (a)
zebrafish
(Danio rerio)
Actinopterygii aim1a 36
  • 17 (a)
OneToMany
aim1b 36
  • 36 (a)
OneToMany
Species with no ortholog for AIM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for AIM1 Gene

ENSEMBL:
Gene Tree for AIM1 (if available)
TreeFam:
Gene Tree for AIM1 (if available)

Paralogs for AIM1 Gene

Paralogs for AIM1 Gene

genes like me logo Genes that share paralogs with AIM1: view

Variants for AIM1 Gene

Sequence variations from dbSNP and Humsavar for AIM1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs11968933 - 106,519,232(+) CAAAG(A/G)CAACA reference, missense
rs1159148 - 106,519,310(-) TCCTT(G/T)GGCCT reference, missense
rs3747787 - 106,519,903(+) TCCCA(C/T)GCACT reference, missense
rs1350902 - 106,527,402(-) TTCCA(A/C)AATGT reference, missense
rs783396 - 106,539,495(+) AGAAG(A/C)AGCGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AIM1 Gene

Variant ID Type Subtype PubMed ID
esv26399 CNV Gain 19812545
esv2481074 CNV Deletion 19546169
esv2278880 CNV Deletion 18987734
esv5031 CNV Deletion 18987735
esv2732540 CNV Deletion 23290073
esv1180121 CNV Deletion 17803354
esv6147 CNV Loss 19470904
esv2671128 CNV Deletion 23128226
esv2732541 CNV Deletion 23290073
esv2732542 CNV Deletion 23290073
esv2732543 CNV Deletion 23290073

Variation tolerance for AIM1 Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.61; 94.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AIM1 Gene

HapMap Linkage Disequilibrium report
AIM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIM1 Gene

Disorders for AIM1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AIM1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
albinism, oculocutaneous, type iv
  • oculocutaneous albinism, type iv
melanoma
  • malignant melanoma
- elite association - COSMIC cancer census association via MalaCards
Search AIM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for AIM1

Genetic Association Database (GAD)
AIM1
Human Genome Epidemiology (HuGE) Navigator
AIM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AIM1
genes like me logo Genes that share disorders with AIM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AIM1 Gene

Publications for AIM1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. Stability, homodimerization, and calcium-binding properties of a single, variant betagamma-crystallin domain of the protein absent in melanoma 1 (AIM1). (PMID: 12693952) Rajini B. … Sharma Y. (Biochemistry 2003) 2 3
  3. Loss of heterozygosity for loci on the long arm of chromosome 6 in human malignant melanoma. (PMID: 1680551) Millikin D. … Trent J. (Cancer Res. 1991) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. DNMT1 and AIM1 Imprinting in human placenta revealed through a genome-wide screen for allele-specific DNA methylation. (PMID: 24094292) Das R. … Ding C. (BMC Genomics 2013) 3

Products for AIM1 Gene

Sources for AIM1 Gene

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