Aliases for CRYBG1 Gene

Aliases for CRYBG1 Gene

  • Crystallin Beta-Gamma Domain Containing 1 2 3 5
  • Suppression Of Tumorigenicity 4 (Malignant Melanoma) 2 3
  • Beta/Gamma Crystallin Domain-Containing Protein 1 3 4
  • Absent In Melanoma 1 Protein 3 4
  • AIM1 3 4
  • Beta-Gamma Crystallin Domain Containing 1 3
  • Suppression Of Tumorigenicity 4 2
  • Absent In Melanoma 1 2
  • CRYBG1 5
  • 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. Diseases associated with CRYBG1 include Melanoma. An important paralog of this gene is CRYBG2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CRYBG1 Gene

Genomics for CRYBG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CRYBG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J106360 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.4 384 2.6 CTCF PRDM10 ZNF692 TARDBP FOXA1 LARP7 ZNF143 ZIC2 PATZ1 TRIM22 CRYBG1 ENSG00000233941 piR-57461-212 QRSL1
GH06J106509 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 12.9 +152.3 152282 7.6 RNF2 HNRNPL GATAD2A CTCF PRDM10 ZNF629 KDM1A ZNF692 RCOR2 ZHX2 BEND3 SOBP ATG5 CRYBG1 QRSL1 LOC101927405 lnc-ATG5-4
GH06J106517 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 16.1 +162.8 162766 11.7 RNF2 ARHGAP35 LEF1 POLR2A BACH1 JUND STAT3 DDX20 PRDM1 RELA CRYBG1 PRDM1 QRSL1 ATG5 LOC101927405 lnc-ATG5-4
GH06J106628 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.5 +268.8 268846 2.9 ZNF221 SP1 CREB1 GATAD2A ZNF629 SIX5 POLR2A NFRKB FOS FOXA1 QRSL1 NONHSAG044508.2 RTN4IP1 CRYBG1 piR-38852-008
GH06J106489 Enhancer 0.8 Ensembl dbSUPER 15.6 +129.1 129084 3.2 ZNF692 EP300 EGR1 ZNF316 NCOR1 NFIC POLR3A SPI1 ZFP69B TAL1 CRYBG1 QRSL1 LOC101927405 lnc-RTN4IP1-1 LOC105377924
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRYBG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CRYBG1

Genomic Locations for CRYBG1 Gene

Genomic Locations for CRYBG1 Gene
chr6:106,360,717-106,572,017
(GRCh38/hg38)
Size:
211,301 bases
Orientation:
Plus strand
chr6:106,959,730-107,018,335
(GRCh37/hg19)
Size:
58,606 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-CRBG1_HUMAN
    Recommended name:
    Beta/gamma crystallin domain-containing protein 1
    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

  • Glycosylation at Asn1462
  • Ubiquitination at Lys988
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CRBG1_HUMAN (2023)

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

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CRYBG1 Gene

InterPro:
Blocks:
  • Beta and gamma crystallin
  • Ricin B lectin domain
  • Gamma-crystallin related
ProtoNet:

Suggested Antigen Peptide Sequences for CRYBG1 Gene

GenScript: Design optimal peptide antigens:
  • Beta/gamma crystallin domain-containing protein 1 (AIM1_HUMAN)
  • cDNA FLJ61405, highly similar to Absent in melanoma 1 protein (B4DU04_HUMAN)
  • AIM1 protein (Q6P5P8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y4K1

UniProtKB/Swiss-Prot:

CRBG1_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.

Phenotypes From GWAS Catalog for CRYBG1 Gene

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:
  • Crybg1 Crybg1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYBG1

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
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

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

PathCards logo

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

mRNA/cDNA for CRYBG1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYBG1

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

No ASD Table

Relevant External Links for CRYBG1 Gene

GeneLoc Exon Structure for
CRYBG1

Expression for CRYBG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CRYBG1

Evidence on tissue expression from TISSUES for CRYBG1 Gene

  • Liver(4.3)
  • Intestine(3.4)
  • Skin(2.4)
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 30 31
  • 99.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AIM1 30 31
  • 85.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AIM1 30 31
  • 81.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Aim1 30 31
  • 81.05 (n)
OneToOne
Crybg1 17
Rat
(Rattus norvegicus)
Mammalia Aim1 30
  • 79.87 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AIM1 31
  • 57 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AIM1 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AIM1 30 31
  • 64.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 61 (a)
OneToMany
-- 31
  • 56 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aim1 30
  • 58.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9757 30
Zebrafish
(Danio rerio)
Actinopterygii aim1b 31
  • 36 (a)
OneToMany
aim1a 31
  • 17 (a)
OneToMany
Species where no ortholog for CRYBG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CRYBG1: view image

Paralogs for CRYBG1 Gene

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

Variants for CRYBG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CRYBG1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs1159148 - p.Gln293Pro
rs11968933 - p.Gly267Asp
rs1350902 - p.Leu1096Val
rs1676015 - p.Thr1445Ser
rs2297970 - p.Cys1395Tyr

Additional dbSNP identifiers (rs#s) for CRYBG1 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for CRYBG1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
melanoma
  • malignant melanoma
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CRYBG1: view

No data available for 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 (Journal of molecular biology 2008) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  4. 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
  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 ME … Trent JM (Proceedings of the National Academy of Sciences of the United States of America 1997) 3 4

Products for CRYBG1 Gene

Sources for CRYBG1 Gene