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

Aliases for AIM1L Gene

Aliases for AIM1L Gene

  • Absent In Melanoma 1-Like 2 3 5
  • 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

Previous GeneCards Identifiers for AIM1L Gene

  • GC00U990701
  • GC01M025670
  • GC01M025882
  • GC01M026253
  • GC01M026521
  • GC01M026648
  • GC01M024902

Summaries for AIM1L Gene

GeneCards Summary for AIM1L Gene

AIM1L (Absent In Melanoma 1-Like) is a Protein Coding gene. GO annotations related to this gene include carbohydrate binding. 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

Regulatory Elements for AIM1L Gene

Enhancers for AIM1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F026348 1.1 FANTOM5 Ensembl ENCODE 14.4 -0.8 -803 12.2 HDGF PKNOX1 ARNT MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CD52 UBXN11 CEP85 NPM1P39 AIM1L CNKSR1 LOC101928728 RPL17P9 HMGN2 LOC101928324
GH01F026376 0.9 Ensembl ENCODE 12.1 -24.0 -23971 2.6 HDGF PKNOX1 CREB3L1 SIN3A FEZF1 ZNF2 CBX5 FOS KLF13 JUNB FAM110D AIM1L LIN28A DHDDS SLC30A2 ENSG00000236782 ZNF593 ZDHHC18 HMGN2 TRIM63
GH01F026391 0.6 Ensembl ENCODE 11.7 -37.4 -37372 0.6 CTCF PKNOX1 WRNIP1 ETV1 THRB RAD21 FOSL1 GATA2 ZNF143 SMC3 AIM1L UBXN11 CD52 PDIK1L HMGN2 FAM110D ENSG00000236782 ZNF593 SLC30A2 TRIM63
GH01F026385 0.4 Ensembl 11.6 -31.8 -31771 1.0 BCOR SUZ12 ZNF121 POLR2A ZNF143 NFE2 TRIM24 ZBTB20 NFE2L2 THAP11 LIN28A AIM1L UBXN11 CD52 DHDDS NPM1P39 HMGN2 FAM110D TRIM63 SLC30A2
GH01F026387 1.1 ENCODE 11.6 -33.4 -33435 0.2 PKNOX1 ARNT MLX ARID4B DMAP1 SLC30A9 FOS SP5 NFYC JUNB LIN28A AIM1L UBXN11 CD52 DHDDS HMGN2 TRIM63 SLC30A2 EXTL1 LOC101928324
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AIM1L on UCSC Golden Path with GeneCards custom track

Genomic Location for AIM1L Gene

Chromosome:
1
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

Genes around AIM1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIM1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIM1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for AIM1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AIM1L Gene

Domains & Families for AIM1L Gene

Gene Families for AIM1L Gene

Suggested Antigen Peptide Sequences for AIM1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N1P7

UniProtKB/Swiss-Prot:

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

Function for AIM1L Gene

Gene Ontology (GO) - Molecular Function for AIM1L Gene

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

Animal Model Products

miRNA for AIM1L Gene

miRTarBase miRNAs that target AIM1L

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 4
cytoskeleton 2
cytosol 2
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for AIM1L Gene

Pathways & Interactions 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 Q8N1P7-AIM1L_HUMAN for AIM1L Gene via STRING IID

Gene Ontology (GO) - Biological Process for AIM1L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for AIM1L Gene

Transcripts for AIM1L Gene

Unigene Clusters for AIM1L Gene

Absent in melanoma 1-like:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for AIM1L Gene

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

This gene is overexpressed in Esophagus - Mucosa (x20.5), Vagina (x6.9), Skin - Not Sun Exposed (Suprapubic) (x6.8), Skin - Sun Exposed (Lower leg) (x6.0), and Minor Salivary Gland (x4.2).

Protein differential expression in normal tissues from HIPED for AIM1L Gene

This gene is overexpressed in Cervix (42.2), Placenta (16.9), and Heart (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AIM1L Gene



Protein tissue co-expression partners for AIM1L Gene

NURSA nuclear receptor signaling pathways regulating expression of AIM1L Gene:

AIM1L

SOURCE GeneReport for Unigene cluster for AIM1L Gene:

Hs.128738
genes like me logo Genes that share expression patterns with AIM1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for AIM1L Gene

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 34 35
  • 99 (n)
dog
(Canis familiaris)
Mammalia AIM1L 34 35
  • 84.26 (n)
cow
(Bos Taurus)
Mammalia LOC507142 34
  • 82.29 (n)
AIM1L 35
  • 42 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aim1l 34
  • 79.21 (n)
mouse
(Mus musculus)
Mammalia Aim1l 34 16 35
  • 78.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AIM1L 35
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIM1L 35
  • 27 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIM1L 35
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AIM1L 35
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AIM1L 35
  • 47 (a)
OneToOne
Species where no ortholog for AIM1L was found in the sources mined by GeneCards:
  • 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
rs10611174 -- 26,324,535(+) ACACA(-/CA)GTTCC intron-variant, nc-transcript-variant
rs10751735 -- 26,336,871(+) GTGTG(C/T)TGGGG nc-transcript-variant, reference, missense
rs10794528 -- 26,354,204(+) CCCTC(A/G)GATTC upstream-variant-2KB
rs10902739 -- 26,339,692(+) GATCA(C/T)GCCAT intron-variant
rs10902740 -- 26,339,705(+) CACTC(A/C)AGCCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv1007945 CNV deletion 20482838
esv1693475 CNV deletion 17803354
esv2658785 CNV deletion 23128226
esv2745685 CNV deletion 23290073
esv2745697 CNV deletion 23290073
esv2745708 CNV deletion 23290073
esv993255 CNV deletion 20482838
nsv1114963 CNV deletion 24896259
nsv1125458 CNV tandem duplication 24896259
nsv1150710 CNV insertion 26484159
nsv545907 CNV loss 21841781

Variation tolerance for AIM1L Gene

Gene Damage Index Score: 14.48; 96.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AIM1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIM1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIM1L Gene

Disorders for AIM1L Gene

Relevant External Links for AIM1L

Genetic Association Database (GAD)
AIM1L
Human Genome Epidemiology (HuGE) Navigator
AIM1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AIM1L

No disorders were found for AIM1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AIM1L Gene

Publications for AIM1L Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. 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 64
  4. 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 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for AIM1L Gene

Sources for AIM1L Gene

Content
Loading form....