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Aliases for CRYM Gene

Aliases for CRYM Gene

  • Crystallin, Mu 2 3
  • Thiomorpholine-Carboxylate Dehydrogenase 2 3
  • DFNA40 3 6
  • THBP 3 4
  • NADP-Regulated Thyroid-Hormone Binding Protein 3
  • NADP-Regulated Thyroid-Hormone-Binding Protein 4
  • Ketimine Reductase Mu-Crystallin 3
  • Mu-Crystallin Homolog 3
  • EC 1.5.1.25 4

External Ids for CRYM Gene

Previous GeneCards Identifiers for CRYM Gene

  • GC16M020678
  • GC16M021278
  • GC16M021236
  • GC16M021177
  • GC16M019805
  • GC16M021269

Summaries for CRYM Gene

Entrez Gene Summary for CRYM Gene

  • Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]

GeneCards Summary for CRYM Gene

CRYM (Crystallin, Mu) is a Protein Coding gene. Diseases associated with CRYM include autosomal dominant non-syndromic sensorineural deafness type dfna. GO annotations related to this gene include protein homodimerization activity and NADP binding.

UniProtKB/Swiss-Prot for CRYM Gene

  • Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors.

Gene Wiki entry for CRYM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYM Gene

Genomics for CRYM Gene

Regulatory Elements for CRYM Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CRYM Gene

Start:
21,238,874 bp from pter
End:
21,303,083 bp from pter
Size:
64,210 bases
Orientation:
Minus strand

Genomic View for CRYM Gene

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

RefSeq DNA sequence for CRYM Gene

Proteins for CRYM Gene

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

    Protein Symbol:
    Q14894-CRYM_HUMAN
    Recommended name:
    Ketimine reductase mu-crystallin
    Protein Accession:
    Q14894
    Secondary Accessions:
    • D5MNX0
    • Q5HYB7

    Protein attributes for CRYM Gene

    Size:
    314 amino acids
    Molecular mass:
    33776 Da
    Cofactor:
    Name=NAD(+); Xref=ChEBI:CHEBI:57540; Name=NADP(+); Xref=ChEBI:CHEBI:58349;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for CRYM Gene

neXtProt entry for CRYM Gene

Proteomics data for CRYM Gene at MOPED

Post-translational modifications for CRYM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYM Gene

No data available for DME Specific Peptides for CRYM Gene

Domains for CRYM Gene

Protein Domains for CRYM Gene

Suggested Antigen Peptide Sequences for CRYM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14894

UniProtKB/Swiss-Prot:

CRYM_HUMAN :
  • Q14894
Family:
  • Belongs to the ornithine cyclodeaminase/mu-crystallin family.
genes like me logo Genes that share domains with CRYM: view

No data available for Gene Families for CRYM Gene

Function for CRYM Gene

Molecular function for CRYM Gene

GENATLAS Biochemistry:
crystallin,mu polypeptide
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=47 uM for 3,4-dehydro-thiomorpholine-3-carboxylate (at pH 5.0 and 37 degrees Celsius) {ECO:0000269 PubMed:21332720}; KM=3.6 uM for NADH (at pH 5.0 and 37 degrees Celsius) {ECO:0000269 PubMed:21332720}; Vmax=9.6 umol/min/mg enzyme with 3,4-dehydro-thiomorpholine-3- carboxylate as substrate (at pH 5.0 and 37 degrees Celsius) {ECO:0000269 PubMed:21332720}; pH dependence: Optimum pH is 4.5. {ECO:0000269 PubMed:21332720};
UniProtKB/Swiss-Prot CatalyticActivity:
Thiomorpholine 3-carboxylate + NAD(P)(+) = 3,4-dehydro-thiomorpholine-3-carboxylate + NAD(P)H.
UniProtKB/Swiss-Prot Function:
Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors.

Enzyme Numbers (IUBMB) for CRYM Gene

Gene Ontology (GO) - Molecular Function for CRYM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IMP 11897713
GO:0004616 phosphogluconate dehydrogenase (decarboxylating) activity --
GO:0042562 hormone binding --
GO:0042803 protein homodimerization activity IDA 12590647
GO:0047127 thiomorpholine-carboxylate dehydrogenase activity IEA --
genes like me logo Genes that share ontologies with CRYM: view
genes like me logo Genes that share phenotypes with CRYM: view

Animal Models for CRYM Gene

MGI Knock Outs for CRYM:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYM

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for CRYM Gene

Localization for CRYM Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRYM Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYM Gene COMPARTMENTS Subcellular localization image for CRYM gene
Compartment Confidence
nucleus 4
plasma membrane 4
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for CRYM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 12471561
GO:0005739 mitochondrion IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CRYM: view

Pathways for CRYM Gene

SuperPathways for CRYM Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 11897713
GO:0006098 pentose-phosphate shunt --
GO:0007605 sensory perception of sound IMP 12471561
GO:0042403 thyroid hormone metabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CRYM: view

No data available for Pathways by source for CRYM Gene

Compounds for CRYM Gene

(8) Novoseek inferred chemical compound relationships for CRYM Gene

Compound -log(P) Hits PubMed IDs
tetrahydrobiopterin 71.4 23
ornithine 68.3 8
nadph 45.9 2
triiodothyronine 34.6 1
thyroxine 26.1 3
genes like me logo Genes that share compounds with CRYM: view

Transcripts for CRYM Gene

Unigene Clusters for CRYM Gene

Crystallin, mu:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYM

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8
SP1: - - -
SP2: - - -
SP3:
SP4:

Relevant External Links for CRYM Gene

GeneLoc Exon Structure for
CRYM
ECgene alternative splicing isoforms for
CRYM

Expression for CRYM Gene

mRNA expression in normal human tissues for CRYM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (8.1), Brain - Caudate (basal ganglia) (4.2), Brain - Frontal Cortex (BA9) (4.2), Brain - Cerebellar Hemisphere (4.1), and Brain - Cortex (4.1).

Protein differential expression in normal tissues for CRYM Gene

This gene is overexpressed in Retina (23.1) and Brain (10.5).

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

SOURCE GeneReport for Unigene cluster for CRYM Gene Hs.924

mRNA Expression by UniProt/SwissProt for CRYM Gene

Q14894-CRYM_HUMAN
Tissue specificity: Expressed in neural tissue, muscle and kidney
genes like me logo Genes that share expressions with CRYM: view

In Situ Assay Products

No data available for Expression partners for CRYM Gene

Orthologs for CRYM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CRYM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CRYM 35
  • 89.38 (n)
  • 90.13 (a)
CRYM 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRYM 35
  • 91.3 (n)
  • 92.36 (a)
CRYM 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crym 35
  • 87.01 (n)
  • 88.82 (a)
Crym 16
Crym 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CRYM 35
  • 99.47 (n)
  • 99.68 (a)
CRYM 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crym 35
  • 86.58 (n)
  • 88.18 (a)
oppossum
(Monodelphis domestica)
Mammalia CRYM 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRYM 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRYM 35
  • 70.09 (n)
  • 73.72 (a)
CRYM 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRYM 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia crym 35
  • 67.42 (n)
  • 71.43 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24695 35
zebrafish
(Danio rerio)
Actinopterygii crym 35
  • 60.43 (n)
  • 62.26 (a)
Dr.22409 35
crym 36
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011137 35
  • 47.43 (n)
  • 35.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4872 35
  • 49.78 (n)
  • 37.33 (a)
CG4872 36
  • 28 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G52810 35
  • 46.38 (n)
  • 34.78 (a)
rice
(Oryza sativa)
Liliopsida Os10g0533200 35
  • 49.12 (n)
  • 39.85 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAP11E10.01 35
  • 41.96 (n)
  • 33.2 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for CRYM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYM Gene

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

Paralogs for CRYM Gene

No data available for Paralogs for CRYM Gene

Variants for CRYM Gene

Sequence variations from dbSNP and Humsavar for CRYM Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs10726 -- 21,258,690(-) TCCCC(A/G)GTGAA utr-variant-3-prime
rs14122 Benign 21,261,270(-) ACCAC(C/G)GTGTT reference, synonymous-codon
rs155930 -- 21,296,385(+) ATAAG(A/G)CAATA intron-variant
rs155934 -- 21,291,817(-) aaggg(C/T)tgata intron-variant
rs172851 -- 21,290,205(-) caaga(C/T)ttatt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv436835 CNV Insertion 17901297
nsv905576 CNV Gain 21882294
esv34235 CNV Gain 17911159
nsv526247 CNV Loss 19592680
dgv830e1 CNV Complex 17122850
esv2714068 CNV Deletion 23290073

Relevant External Links for CRYM Gene

HapMap Linkage Disequilibrium report
CRYM
Human Gene Mutation Database (HGMD)
CRYM
Locus Specific Mutation Databases (LSDB)
CRYM

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

Disorders for CRYM Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for CRYM Gene in MalaCards »

(1) Diseases for CRYM Gene including...

(2) University of Copenhagen DISEASES for CRYM Gene

(2) Novoseek inferred disease relationships for CRYM Gene

Disease -log(P) Hits PubMed IDs
tumors 0 3
cancer 0 2

Relevant External Links for CRYM

Human Genome Epidemiology (HuGE) Navigator
CRYM
genes like me logo Genes that share disorders with CRYM: view

No data available for OMIM , UniProtKB/Swiss-Prot and Genatlas for CRYM Gene

Publications for CRYM Gene

  1. Two roles for mu-crystallin: a lens structural protein in diurnal marsupials and a possible enzyme in mammalian retinas. (PMID: 9285773) Segovia L. … Wistow G. (Mol. Vis. 1997) 3 4 23
  2. Purification, molecular cloning, and functional expression of the human nicotinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein. (PMID: 9328354) Vie M.-P. … Blondeau J.-P. (Mol. Endocrinol. 1997) 3 4 23
  3. Mu-crystallin is a mammalian homologue of Agrobacterium ornithine cyclodeaminase and is expressed in human retina. (PMID: 1384048) Kim R.Y. … Wistow G.J. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  4. Localization of the human gene for mu-crystallin to chromosome 16p. (PMID: 1478656) Chen H. … Antonarakis S.E. (Genomics 1992) 2 3 23
  5. Crystal structure of human micro-crystallin complexed with NADPH. (PMID: 17242435) Cheng Z. … Gong W. (Protein Sci. 2007) 3 4 23

Products for CRYM Gene

Sources for CRYM Gene

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