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Aliases for CRYBG1 Gene

Aliases for CRYBG1 Gene

  • Crystallin Beta-Gamma Domain Containing 1 2 3
  • AIM1 3 4 5
  • Suppression Of Tumorigenicity 4 (Malignant Melanoma) 2 3
  • Beta/Gamma Crystallin Domain-Containing Protein 1 3 4
  • Absent In Melanoma 1 2 5
  • Beta-Gamma Crystallin Domain Containing 1 3
  • Suppression Of Tumorigenicity 4 2
  • Absent In Melanoma 1 Protein 3
  • ST4 3

External Ids for CRYBG1 Gene

Previous HGNC Symbols for CRYBG1 Gene

  • ST4
  • AIM1

Summaries for CRYBG1 Gene

GeneCards Summary for CRYBG1 Gene

CRYBG1 (Crystallin Beta-Gamma Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is CRYBG2.

UniProtKB/Swiss-Prot for CRYBG1 Gene

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

Gene Wiki entry for CRYBG1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYBG1 Gene

Genomics for CRYBG1 Gene

Regulatory Elements for CRYBG1 Gene

Enhancers for CRYBG1 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
GH06G106517 2 FANTOM5 Ensembl ENCODE dbSUPER 16 +162.7 162664 11.7 HDGF PKNOX1 ARNT WRNIP1 SIN3A DMAP1 FEZF1 ZNF2 YY1 ZNF766 CRYBG1 PRDM1 QRSL1 ATG5 GC06P106528 LOC101927405
GH06G106509 1.5 Ensembl ENCODE dbSUPER 12.8 +152.5 152536 7.7 PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SOBP CRYBG1 ATG5 BEND3 QRSL1 LOC101927405 GC06P106528
GH06G106531 1.1 ENCODE dbSUPER 14.6 +170.7 170663 0.5 CTCF TFAP4 MXI1 PKNOX1 RB1 SAP130 ARID4B SIN3A ZNF2 RAD21 CRYBG1 GC06P106528 GC06P106538
GH06G106496 0.9 Ensembl ENCODE dbSUPER 17.2 +136.3 136318 1.0 CEBPG CRYBG1 QRSL1 LOC101927405 GC06M106404
GH06G106501 0.9 Ensembl ENCODE dbSUPER 17.2 +141.6 141593 2.0 ZBTB48 FOS QRSL1 CRYBG1 RTN4IP1 LOC101927405 GC06P106528
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRYBG1 on UCSC Golden Path with GeneCards custom track

Promoters for CRYBG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200614 92 601 CBX3 RB1 SIN3A KLF17 RAD21 ZEB1 GLIS2 HSF1 ZNF350 ZNF143

Genomic Location for CRYBG1 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 CRYBG1 Gene

Genes around CRYBG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYBG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYBG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYBG1 Gene

Proteins for CRYBG1 Gene

  • Protein details for CRYBG1 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 CRYBG1 Gene

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

    Three dimensional structures from OCA and Proteopedia for CRYBG1 Gene

    Alternative splice isoforms for CRYBG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRYBG1 Gene

Post-translational modifications for CRYBG1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYBG1 Gene

No data available for DME Specific Peptides for CRYBG1 Gene

Domains & Families for CRYBG1 Gene

Gene Families for CRYBG1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y4K1

UniProtKB/Swiss-Prot:

AIM1_HUMAN :
  • Belongs to the beta/gamma-crystallin family.
Family:
  • Belongs to the beta/gamma-crystallin family.
genes like me logo Genes that share domains with CRYBG1: view

Function for CRYBG1 Gene

Molecular function for CRYBG1 Gene

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 CRYBG1 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 CRYBG1: view
genes like me logo Genes that share phenotypes with CRYBG1: view

Animal Models for CRYBG1 Gene

MGI Knock Outs for CRYBG1:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CRYBG1 Gene

Localization for CRYBG1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRYBG1 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CRYBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with CRYBG1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CRYBG1 Gene

Pathways & Interactions for CRYBG1 Gene

SuperPathways for CRYBG1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYBG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CRYBG1: view

No data available for Pathways by source and SIGNOR curated interactions for CRYBG1 Gene

Drugs & Compounds for CRYBG1 Gene

No Compound Related Data Available

Transcripts for CRYBG1 Gene

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRYBG1 Gene

No ASD Table

Relevant External Links for CRYBG1 Gene

GeneLoc Exon Structure for
CRYBG1
ECgene alternative splicing isoforms for
CRYBG1

Expression for CRYBG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CRYBG1 Gene:

CRYBG1

Evidence on tissue expression from TISSUES for CRYBG1 Gene

  • Liver(4.2)
  • Intestine(3.1)
genes like me logo Genes that share expression patterns with CRYBG1: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYBG1 Gene

Orthologs for CRYBG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYBG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIM1 34 35
  • 99.23 (n)
cow
(Bos Taurus)
Mammalia AIM1 34 35
  • 85.87 (n)
dog
(Canis familiaris)
Mammalia AIM1 34 35
  • 81.85 (n)
mouse
(Mus musculus)
Mammalia Aim1 34 35
  • 81.05 (n)
Crybg1 16
rat
(Rattus norvegicus)
Mammalia Aim1 34
  • 79.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AIM1 35
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIM1 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIM1 34 35
  • 64.93 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 61 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia aim1 34
  • 58.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9757 34
zebrafish
(Danio rerio)
Actinopterygii aim1b 35
  • 36 (a)
OneToMany
aim1a 35
  • 17 (a)
OneToMany
Species where no ortholog for CRYBG1 was found in the sources mined by GeneCards:
  • 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 CRYBG1 Gene

ENSEMBL:
Gene Tree for CRYBG1 (if available)
TreeFam:
Gene Tree for CRYBG1 (if available)

Paralogs for CRYBG1 Gene

Paralogs for CRYBG1 Gene

genes like me logo Genes that share paralogs with CRYBG1: view

Variants for CRYBG1 Gene

Sequence variations from dbSNP and Humsavar for CRYBG1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000069763 -- 106,437,307(+) CTCTT(-/CC)AACTA intron-variant
rs1000070294 -- 106,395,223(+) AACTC(-/CTT)CTCTA intron-variant
rs1000080520 -- 106,384,364(+) GATTT(A/C)AGTGC intron-variant
rs1000100849 -- 106,426,320(+) CTATC(A/G)ACATA intron-variant
rs1000110818 -- 106,386,072(+) TTGAA(C/G)GTTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CRYBG1 Gene

Variant ID Type Subtype PubMed ID
dgv3358n106 CNV deletion 24896259
esv1180121 CNV deletion 17803354
esv2278880 CNV deletion 18987734
esv2481074 CNV deletion 19546169
esv26399 CNV gain 19812545
esv2671128 CNV deletion 23128226
esv2732540 CNV deletion 23290073
esv2732541 CNV deletion 23290073
esv2732542 CNV deletion 23290073
esv2732543 CNV deletion 23290073
esv3540273 CNV deletion 23714750
esv3610277 CNV loss 21293372
esv5031 CNV loss 18987735
esv6147 CNV loss 19470904
nsv1017419 CNV loss 25217958
nsv1128268 CNV deletion 24896259
nsv1153085 CNV deletion 26484159
nsv1161442 CNV duplication 26073780
nsv950488 CNV duplication 24416366
nsv956516 CNV deletion 24416366

Variation tolerance for CRYBG1 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 CRYBG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYBG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYBG1 Gene

Disorders for CRYBG1 Gene

Relevant External Links for CRYBG1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYBG1

No disorders were found for CRYBG1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CRYBG1 Gene

Publications for CRYBG1 Gene

  1. Exploring the limits of sequence and structure in a variant betagamma-crystallin domain of the protein absent in melanoma-1 (AIM1). (PMID: 18582473) Aravind P. … Sankaranarayanan R. (J. Mol. Biol. 2008) 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. 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 64
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. 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 64

Products for CRYBG1 Gene

Sources for CRYBG1 Gene

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