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Aliases for AIM1L Gene

Aliases for AIM1L Gene

  • Absent In Melanoma 1-Like 2 3
  • Beta/Gamma Crystallin Domain-Containing Protein 2 3 4
  • Beta-Gamma Crystallin Domain Containing 2 2 3
  • CRYBG2 3 4
  • Absent In Melanoma 1-Like Protein 3

External Ids for AIM1L Gene

Summaries for AIM1L Gene

GeneCards Summary for AIM1L Gene

AIM1L (Absent In Melanoma 1-Like) is a Protein Coding gene. An important paralog of this gene is AIM1.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AIM1L Gene

Genomics for AIM1L Gene

Genomic Location for AIM1L Gene

Start:
26,321,859 bp from pter
End:
26,354,130 bp from pter
Size:
32,272 bases
Orientation:
Minus strand

Genomic View for AIM1L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AIM1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIM1L Gene

Regulatory Elements for AIM1L Gene

Proteins for AIM1L Gene

  • Protein details for AIM1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1P7-AIM1L_HUMAN
    Recommended name:
    Absent in melanoma 1-like protein
    Protein Accession:
    Q8N1P7
    Secondary Accessions:
    • B2RNG3
    • Q5T137
    • Q5T150

    Protein attributes for AIM1L Gene

    Size:
    616 amino acids
    Molecular mass:
    68646 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI15847.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI15850.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for AIM1L Gene

Proteomics data for AIM1L Gene at MOPED

Post-translational modifications for AIM1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AIM1L Gene

No data available for DME Specific Peptides for AIM1L Gene

Domains for AIM1L Gene

UniProtKB/Swiss-Prot:

AIM1L_HUMAN
Domain:
  • Contains 10 beta/gamma crystallin Greek key domains.:
    • Q8N1P7
  • Contains 1 ricin B-type lectin domain.:
    • Q8N1P7
genes like me logo Genes that share domains with AIM1L: view

No data available for Gene Families for AIM1L Gene

Function for AIM1L Gene

Gene Ontology (GO) - Molecular Function for AIM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with AIM1L: view

Phenotypes for AIM1L Gene

GenomeRNAi human phenotypes for AIM1L:
genes like me logo Genes that share phenotypes with AIM1L: view

miRNA for AIM1L Gene

miRTarBase miRNAs that target AIM1L

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AIM1L Gene

Localization for AIM1L Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AIM1L Gene COMPARTMENTS Subcellular localization image for AIM1L gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for AIM1L Gene

Pathways for AIM1L Gene

SuperPathways for AIM1L Gene

No Data Available

Interacting Proteins for AIM1L Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000433931%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000433931 for AIM1L Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for AIM1L Gene

None

No data available for Pathways by source for AIM1L Gene

Transcripts for AIM1L Gene

Unigene Clusters for AIM1L Gene

Absent in melanoma 1-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AIM1L Gene

No ASD Table

Relevant External Links for AIM1L Gene

GeneLoc Exon Structure for
AIM1L
ECgene alternative splicing isoforms for
AIM1L

Expression for AIM1L Gene

mRNA expression in normal human tissues for AIM1L Gene

mRNA differential expression in normal tissues according to GTEx for AIM1L Gene

This gene is overexpressed in Esophagus - Mucosa (20.5), Vagina (6.9), Skin - Not Sun Exposed (Suprapubic) (6.8), Skin - Sun Exposed (Lower leg) (6.0), and Minor Salivary Gland (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AIM1L Gene

SOURCE GeneReport for Unigene cluster for AIM1L Gene Hs.128738

genes like me logo Genes that share expressions with AIM1L: view

Orthologs for AIM1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for AIM1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIM1L 36
  • 99 (n)
  • 98.19 (a)
AIM1L 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AIM1L 37
  • 42 (a)
OneToOne
LOC507142 36
  • 82.29 (n)
  • 77.6 (a)
dog
(Canis familiaris)
Mammalia AIM1L 36
  • 84.26 (n)
  • 79.73 (a)
AIM1L 37
  • 43 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aim1l 36
  • 78.97 (n)
  • 76.9 (a)
Aim1l 16
Aim1l 37
  • 43 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIM1L 37
  • 27 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AIM1L 37
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aim1l 36
  • 79.21 (n)
  • 76.07 (a)
chicken
(Gallus gallus)
Aves AIM1L 37
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AIM1L 37
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AIM1L 37
  • 47 (a)
OneToOne
Species with no ortholog for AIM1L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AIM1L Gene

ENSEMBL:
Gene Tree for AIM1L (if available)
TreeFam:
Gene Tree for AIM1L (if available)

Paralogs for AIM1L Gene

Paralogs for AIM1L Gene

genes like me logo Genes that share paralogs with AIM1L: view

Variants for AIM1L Gene

Sequence variations from dbSNP and Humsavar for AIM1L Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3201334 -- 26,346,213(-) TGCCT(G/T)GGCCC reference, missense
rs4072445 -- 26,337,728(+) CCAGC(C/T)CAGGA intron-variant
rs4233461 -- 26,354,815(+) TGAGA(A/G)AGGCA upstream-variant-2KB
rs4262530 -- 26,355,543(+) ATTCC(A/G)CCTAG upstream-variant-2KB
rs4325118 -- 26,353,756(+) GGTGT(A/G)TGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AIM1L Gene

Variant ID Type Subtype PubMed ID
nsv871165 CNV Loss 21882294
esv2658785 CNV Deletion 23128226
esv2745685 CNV Deletion 23290073
esv2745697 CNV Deletion 23290073
esv2745708 CNV Deletion 23290073
esv1007945 CNV Deletion 20482838
esv1693475 CNV Deletion 17803354
esv993255 CNV Deletion 20482838

Relevant External Links for AIM1L Gene

HapMap Linkage Disequilibrium report
AIM1L

Disorders for AIM1L Gene

Relevant External Links for AIM1L

Genetic Association Database (GAD)
AIM1L
Human Genome Epidemiology (HuGE) Navigator
AIM1L
genes like me logo Genes that share disorders with AIM1L: view

No data available for UniProtKB/Swiss-Prot for AIM1L Gene

Publications for AIM1L Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  3. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. (PMID: 17672918) Szafranski K. … Platzer M. (Genome Biol. 2007) 3
  4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PMID: 21906983) Kim W. … Gygi S.P. (Mol. Cell 2011) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3

Products for AIM1L Gene

Sources for AIM1L Gene

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