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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AIM1 Gene

protein-coding   GIFtS: 50
GCID: GC06P106915

absent in melanoma 1

 Explore 2 diseases affiliated with
AIM1 via our new
 Human Malady Compendium 
Biological research products
for AIM1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Absent In Melanoma 11 2     Absent In Melanoma 1 Protein2
CRYBG11 2 3     Beta-Gamma Crystallin Domain Containing 12
ST41 2 5     Suppression Of Tumorigenicity 4 (Malignant Melanoma)2
Beta/Gamma Crystallin Domain-Containing Protein 12 3     

External Ids:    HGNC: 3561   Entrez Gene: 2022   Ensembl: ENSG000001122977   OMIM: 6017975   UniProtKB: Q9Y4K13   

Export aliases for AIM1 gene to outside databases

Previous GC identifers: GC06P106795 GC06P106982 GC06P106955 GC06P106854 GC06P107066 GC06P104406


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: AIM1_HUMAN, Q9Y4K1
Function: May function as suppressor of malignant melanoma. It may exert its effects through interactions with the
cytoskeleton

Gene Wiki entry for AIM1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AIM1 gene promoter:
         HOXA9B   HOXA9   NF-1   AML1a   Tal-1   HTF   Lmo2   CUTL1   E47   SRY   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAIM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AIM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AIM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

AIM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AIM1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P106915:  view genomic region     (about GC identifiers)

Start:
106,959,730 bp from pter      End:
107,018,335 bp from pter
Size:
58,606 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AIM1_HUMAN, Q9Y4K1 (See protein sequence)
Recommended Name: Absent in melanoma 1 protein  
Size: 1723 amino acids; 188676 Da
2 PDB 3D structures from and Proteopedia for AIM1:
2DAD (3D)        3CW3 (3D)    
Secondary accessions: O00296 Q5VWJ2

Explore the universe of human proteins at neXtProt for AIM1: NX_Q9Y4K1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y4K1

  • AIM1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001615.1  
    ENSEMBL proteins: 
     ENSP00000358062   ENSP00000391419   ENSP00000439183  

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    Uscn Proteins for AIM1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--


    AIM1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AIM1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001064 Beta/gamma_crystallin
     IPR000772 Ricin_B_lectin
     IPR011024 G_crystallin-rel

    Graphical View of Domain Structure for InterPro Entry Q9Y4K1

    ProtoNet protein and cluster: Q9Y4K1

    3 Blocks protein families:
    IPB000772 Ricin B lectin domain
    IPB001064 Beta and gamma crystallin
    IPB011024 Gamma-crystallin related


    UniProtKB/Swiss-Prot: AIM1_HUMAN, Q9Y4K1
    Similarity: Belongs to the beta/gamma-crystallin family
    Similarity: Contains 12 beta/gamma crystallin 'Greek key' domains
    Similarity: Contains 1 ricin B-type lectin domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: AIM1_HUMAN, Q9Y4K1
    Function: May function as suppressor of malignant melanoma. It may exert its effects through interactions with the
    cytoskeleton

         Genatlas biochemistry entry for AIM1:
    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

    miRNA
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    hsa-miR-320a hsa-miR-29c hsa-miR-29a hsa-miR-320d hsa-miR-16-1* hsa-miR-520a-5p hsa-miR-335 hsa-miR-649
    SwitchGear 3'UTR luciferase reporter plasmidAIM1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIM1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0030246carbohydrate binding ----


    AIM1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AIM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for AIM1 (Q9Y4K13 ENSP000003580624) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPS6KA3P518123I2D: score=2 
    AURKBENSP000003139504STRING: ENSP00000313950
    TACC1ENSP000003217034STRING: ENSP00000321703
    BIRC5ENSP000003016334STRING: ENSP00000301633
    INCENPENSP000003782954STRING: ENSP00000378295
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    AIM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AIM1
    Search CenterWatch for drugs/clinical trials and news about AIM1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AIM1 gene: 
    NM_001624.2  

    Unigene Clusters for AIM1:

    Absent in melanoma 1
    Hs.643590  [show with all ESTs], Hs.724262  [show with all ESTs]
    Unigene Representative Sequences: NM_001624, AK125137
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369066(uc003prh.3 uc003pri.3) ENST00000457437 ENST00000487681
    ENST00000535438

    miRNA
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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate AIM1 (see all 12):
    hsa-miR-320a hsa-miR-29c hsa-miR-29a hsa-miR-320d hsa-miR-16-1* hsa-miR-520a-5p hsa-miR-335 hsa-miR-649
    SwitchGear 3'UTR luciferase reporter plasmidAIM1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: AK125137.1 

    12 DOTS entries:

    DT.316122  DT.101971314  DT.95173630  DT.91775040  DT.121313608  DT.86838658  DT.121313663  DT.91775048 
    DT.95173634  DT.101971914  DT.40294489  DT.95303148 

    24/211 AceView cDNA sequences (see all 211):

    AA251228 BU631075 BX492888 AI065078 BE551949 AI973063 BX481229 AW272757 
    BF064175 AI064965 BE503311 CA424801 BU620267 BM824399 AI475399 CR601872 
    BF197960 AL550776 AI522011 BX955186 T53644 CR600498 AA765822 AA761127 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AIM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACAACAGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    AIM1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
    BoneZeugopod Epiphyseal EndBone
    KidneyRenal Collecting Duct SystemKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See AIM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AIM1

    SOURCE GeneReport for Unigene clusters: Hs.643590 Hs.724262
        SABiosciences Custom PCR Arrays for AIM1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for AIM1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AIM11 absent in melanoma 1 62.12(n)
    53.82(a)
      421783  XM_419809.3  XP_419809.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    61(a)
    57(a)
    1 ↔ many
    1 ↔ many
    1(189445388-189453006)
    1(189407723-189441970)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.97572 Xenopus laevis transcribed sequence with weak similarity more 71.84(n)    BJ060602.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ259650.12   -- 70.03(n)    BQ259650.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AIM1 gene
    CRYBG32  AIM1L2  
    13 SIMAP similar genes for AIM1 using alignment to 4 protein entries:     AIM1_HUMAN (see all proteins):
    AIM1L    DKFZp434L1713    CRYBG3    CRYGB    CRYBA2    CRYBB3
    CRYBB2    CRYBA1    CRYBA4    CRYGC    CRYGD    CRYGA
    DKFZp434A0627

    AIM1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1335 NCBI SNPs in AIM1 are shown (see all 1335    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs351739411,2
    C,--104459311(+) TGGGG-/CCTGAT 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1123138621,2
    C--104459311(+) TGGGGG/CCTGAT 1 -- int11Minor allele frequency- C:0.50CSA 2
    rs7100971,2
    C,F,H,--106958021(-) AAACCT/CAGGTG 1 -- us2k128Minor allele frequency- C:0.20NA EA NS WA CSA 3154
    rs1838106341,2
    --106958134(+) GCTGGA/GCTCGC 1 -- us2k10--------
    rs1145737801,2
    F,--106958136(+) TGGGCT/CCGCCG 1 -- us2k12Minor allele frequency- C:0.04WA NA 238
    rs1165208051,2
    F,--106958246(+) CACCGC/AGCCCA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs69299491,2
    C,F,A,H,--106958518(+) CTTCAA/GCCACA 1 -- us2k113Minor allele frequency- G:0.32NA WA EA 514
    rs761570041,2
    --106958596(+) CACTCC/TTCCGT 1 -- us2k12Minor allele frequency- T:0.06CSA WA 120
    rs1875797021,2
    --106958613(+) ATGGTA/GGGAAC 1 -- us2k10--------
    rs1391767581,2
    --106958652(+) CTCTGC/TAGCCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AIM1 (106959730 - 107018335 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for AIM1
         2 CNVs: 99655 69582
         5 Indels: 28054 62557 40898 42132 46964

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AIM1 for disorders           About GeneDecksing

    OMIM gene information: 601797    OMIM disorders: --

    2 diseases for AIM1:    About MalaCards
    melanoma    keratitis

    Human Genome Epidemiology (HuGE) Navigator: AIM1 (30 documents)

    Export disorders for AIM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AIM1 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with AIM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exploring the limits of sequence and structure in a variant betagamma-crystallin domain of the protein absent in melanoma-1 (AIM1). (PubMed id 18582473)1, 2 Aravind P.... Sankaranarayanan R. (2008)
    2. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    3. Stability, homodimerization, and calcium-binding prop erties of a single, variant betagamma-crystallin domain of the protein absent i n melanoma 1 (AIM1). (PubMed id 12693952)1, 3 Rajini B....Sharma Y. (2003)
    4. AIM1, a novel non-lens member of the betagamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma. (PubMed id 9096375)1, 2 Ray M.E.... Trent J.M. (1997)
    5. Loss of heterozygosity for loci on the long arm of chromosome 6 in human malignant melanoma. (PubMed id 1680551)1, 3 Millikin D....Trent J. (1991)
    6. AIM1 promoter hypermethylation as a predictor of decre ased risk of recurrence following radical prostatectomy. (PubMed id 22127895)1 Rosenbaum E....Hoque M.O. (2012)
    7. High-throughput transcriptomic and RNAi analysis ident ifies AIM1, ERGIC1, TMED3 and TPX2 as potential drug targets in prostate cancer. (PubMed id 22761906)1 Vainio P....Iljin K. (2012)
    8. AIM1 and LINE-1 epigenetic aberrations in tumor and se rum relate to melanoma progression and disease outcome. (PubMed id 22402438)1 Hoshimoto S....Hoon D.S. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 202 HGNC: 356 AceView: AIM1 Ensembl:ENSG00000112297 euGenes: HUgn202
    ECgene: AIM1 H-InvDB: AIM1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AIM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AIM1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AIM1 gene:
    Search GeneIP for patents involving AIM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    In Situ Hybridization Assays from
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