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Aliases for AIM1 Gene

Aliases for AIM1 Gene

  • Absent In Melanoma 1 2 3
  • 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
  • ST4 3 6
  • Suppression Of Tumorigenicity 4 2
  • Absent In Melanoma 1 Protein 3

External Ids for AIM1 Gene

Previous Symbols for AIM1 Gene

  • ST4

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. 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

Genomic Location for AIM1 Gene

Start:
106,360,808 bp from pter
End:
106,570,460 bp from pter
Size:
209,653 bases
Orientation:
Plus strand

Genomic View for AIM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIM1 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys988

Other Protein References for AIM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AIM1 Gene

Domains for AIM1 Gene

UniProtKB/Swiss-Prot:

AIM1_HUMAN
Domain:
  • Contains 12 beta/gamma crystallin Greek key domains.:
    • Q9Y4K1
  • Contains 1 ricin B-type lectin domain.:
    • Q9Y4K1
Family:
  • Belongs to the beta/gamma-crystallin family.:
    • Q9Y4K1
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

Gene Ontology (GO) - Molecular Function for AIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with AIM1: view

miRNA for AIM1 Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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 3
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for AIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with AIM1: view

Pathways for AIM1 Gene

SuperPathways for AIM1 Gene

No Data Available

Interacting Proteins for AIM1 Gene

Gene Ontology (GO) - Biological Process for AIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with AIM1: view

No data available for Pathways by source for AIM1 Gene

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 (10.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AIM1 Gene

SOURCE GeneReport for Unigene cluster for AIM1 Gene Hs.724262

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

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
  • 99.23 (n)
  • 98.67 (a)
AIM1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AIM1 36
  • 85.87 (n)
  • 81.17 (a)
AIM1 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AIM1 36
  • 81.85 (n)
  • 77.68 (a)
AIM1 37
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aim1 36
  • 81.05 (n)
  • 77.96 (a)
Aim1 16
Aim1 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIM1 37
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AIM1 37
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aim1 36
  • 79.87 (n)
  • 76.76 (a)
chicken
(Gallus gallus)
Aves AIM1 36
  • 64.93 (n)
  • 57.18 (a)
AIM1 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 56 (a)
OneToMany
-- 37
  • 61 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.9757 36
tropical clawed frog
(Silurana tropicalis)
Amphibia aim1 36
  • 58.67 (n)
  • 50.65 (a)
zebrafish
(Danio rerio)
Actinopterygii aim1a 37
  • 17 (a)
OneToMany
aim1b 37
  • 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

Selected SIMAP similar genes for AIM1 Gene using alignment to 4 proteins:

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 MAF
rs1784 -- 106,471,656(-) ACCTT(C/G)TTGTT intron-variant
rs8013 -- 106,570,279(+) GTTTT(A/C)AAATA utr-variant-3-prime
rs8910 -- 106,570,260(+) CACTG(A/G)AATAG utr-variant-3-prime
rs11682 -- 106,570,422(+) GATCT(C/T)TTAAA utr-variant-3-prime
rs13319 -- 106,569,779(+) GTTCT(A/G)CAGCC utr-variant-3-prime

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

Relevant External Links for AIM1 Gene

HapMap Linkage Disequilibrium report
AIM1

Disorders for AIM1 Gene

Relevant External Links for AIM1

Genetic Association Database (GAD)
AIM1
Human Genome Epidemiology (HuGE) Navigator
AIM1
genes like me logo Genes that share disorders with AIM1: view

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

Publications for AIM1 Gene

  1. 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
  2. AIM1, a novel non-lens member of the betagamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma. (PMID: 9096375) Ray M.E. … Trent J.M. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 4
  3. 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
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for AIM1 Gene

Sources for AIM1 Gene

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