Human Gene CRYM (ENST00000219599.8) from GENCODE V44
Description: Homo sapiens crystallin mu (CRYM), transcript variant 1, mRNA. (from RefSeq NM_001888) RefSeq Summary (NM_001888): 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]. Gencode Transcript: ENST00000219599.8 Gencode Gene: ENSG00000103316.12 Transcript (Including UTRs) Position: hg38 chr16:21,258,521-21,303,062 Size: 44,542 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr16:21,258,781-21,278,251 Size: 19,471 Coding Exon Count: 8
ID:CRYM_HUMAN DESCRIPTION: RecName: Full=Thiomorpholine-carboxylate dehydrogenase; EC=1.5.1.25; AltName: Full=Mu-crystallin homolog; AltName: Full=NADP-regulated thyroid-hormone-binding protein; AltName: Full=ketimine reductase; 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. CATALYTIC ACTIVITY: Thiomorpholine 3-carboxylate + NAD(P)(+) = 3,4-dehydro-thiomorpholine-3-carboxylate + NAD(P)H. COFACTOR: NAD or NADP. BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 4.5; SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Expressed in neural tissue, muscle and kidney. SIMILARITY: Belongs to the ornithine cyclodeaminase family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14894
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003714 transcription corepressor activity GO:0005515 protein binding GO:0016491 oxidoreductase activity GO:0016639 oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor GO:0042562 hormone binding GO:0042803 protein homodimerization activity GO:0047127 thiomorpholine-carboxylate dehydrogenase activity GO:0050661 NADP binding GO:0070324 thyroid hormone binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006554 lysine catabolic process GO:0007605 sensory perception of sound GO:0042403 thyroid hormone metabolic process GO:0055114 oxidation-reduction process GO:0070327 thyroid hormone transport
US Server
