CRYM

Last updated
CRYM
Protein CRYM PDB 2i99.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CRYM , DFNA40, THBP, crystallin mu
External IDs OMIM: 123740 MGI: 102675 HomoloGene: 1424 GeneCards: CRYM
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001014444
NM_001888
NM_001376256

NM_016669

RefSeq (protein)

NP_001879
NP_001363185

NP_057878

Location (UCSC) Chr 16: 21.24 – 21.3 Mb Chr 7: 119.79 – 119.8 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Mu-crystallin homolog also known as NADP-regulated thyroid-hormone-binding protein (THBP) is a protein that in humans is encoded by the CRYM gene. Multiple alternatively spliced transcript variants have been found for this gene. [5] [6]

Contents

Function

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. [6]

Its enzyme function has been determined as a ketimine reductase, reducing cyclic ketimines to their reduced forms. Either NADH or NADPH can be used as cofactor. The most active substrate at pH 5.0 is aminoethylcysteine ketimine (AECK), however at neutral pH (pH 7.2) the most active substrate is 1-piperideine-2-carboxylate which is an important part of the pipecolic acid pathway. The active form of thyroxine, T3, has been found to be a potent inhibitor at nanomolar concentrations. [7]

Besides its role in lens biology, CRYM seems also to be involved in thyroid hormone signalling in other tissues. It could be demonstrated that CRYM mutations may cause deafness through thyroid hormone binding effects on the fibrocytes of the cochlea. [8] Disruption of the CRYM gene leads to decreased T3 concentrations in both tissues and serum without alteration of peripheral T3 action in vivo. [9] [10]

The existence of intracellular thyroid hormone binding proteins has been postulated from mathematical modelling of pituitary-thyroid homeostasis. [11] Binding properties have been assumed to be similar to those of extracellular binding proteins, [12] however it is not clear, if THBP is the only intracellular thyroid hormone binding protein.

Related Research Articles

<span class="mw-page-title-main">Thyroid hormone receptor alpha</span> Protein-coding gene in the species Homo sapiens

Thyroid hormone receptor alpha (TR-alpha) also known as nuclear receptor subfamily 1, group A, member 1 (NR1A1), is a nuclear receptor protein that in humans is encoded by the THRA gene.

<span class="mw-page-title-main">Crystallin, gamma D</span> Protein-coding gene in the species Homo sapiens

Gamma-crystallin D is a protein that in humans is encoded by the CRYGD gene.

<span class="mw-page-title-main">60S ribosomal protein L7a</span> Protein-coding gene in the species Homo sapiens

60S ribosomal protein L7a is a protein that in humans is encoded by the RPL7A gene.

<span class="mw-page-title-main">CRYBB2</span> Protein-coding gene in the species Homo sapiens

Beta-crystallin B2 is a protein that in humans is encoded by the CRYBB2 gene.

<span class="mw-page-title-main">CRYGC</span> Protein-coding gene in the species Homo sapiens

Crystallin, gamma C, also known as CRYGC, is a protein which in humans is encoded by the CRYGC gene.

<span class="mw-page-title-main">CRYBB1</span> Protein-coding gene in the species Homo sapiens

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.

<span class="mw-page-title-main">CRYGB</span> Protein-coding gene in the species Homo sapiens

Gamma-crystallin B is a protein that in humans is encoded by the CRYGB gene.

<span class="mw-page-title-main">Crystallin, beta A1</span> Protein-coding gene in the species Homo sapiens

Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 gene.

<span class="mw-page-title-main">CRYGS</span> Protein-coding gene in the species Homo sapiens

Gamma-crystallin S is a protein that in humans is encoded by the CRYGS gene.

<span class="mw-page-title-main">CRYBA4</span> Protein-coding gene in the species Homo sapiens

Beta-crystallin A4 is a protein that in humans is encoded by the CRYBA4 gene.

<span class="mw-page-title-main">CRYZ</span> Protein-coding gene in the species Homo sapiens

Quinone oxidoreductase is an enzyme that in humans is encoded by the CRYZ gene.

<span class="mw-page-title-main">CRYBB3</span> Protein-coding gene in the species Homo sapiens

Beta-crystallin B3 is a protein that in humans is encoded by the CRYBB3 gene.

<span class="mw-page-title-main">CRYGA</span> Protein-coding gene in the species Homo sapiens

Gamma-crystallin A is a protein that in humans is encoded by the CRYGA gene.

<span class="mw-page-title-main">LIM2</span> Protein-coding gene in the species Homo sapiens

Lens fiber membrane intrinsic protein is a protein that in humans is encoded by the LIM2 gene.

<span class="mw-page-title-main">OASL</span> Protein-coding gene in the species Homo sapiens

59 kDa 2'-5'-oligoadenylate synthetase-like protein is an enzyme that in humans is encoded by the OASL gene.

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Absent in melanoma 1 protein is a protein that in humans is encoded by the AIM1 gene.

<span class="mw-page-title-main">CEMIP</span> Protein-coding gene in the species Homo sapiens

Cell migration-inducing and hyaluronan-binding protein (CEMIP), formerly known as KIAA1199, is a protein that in humans is encoded by the CEMIP gene. CEMIP has been shown to bind hyaluronic acid and catalyze its depolymerization independently of CD44 and hyaluronidases. Such function has also been validated in mice.

<span class="mw-page-title-main">HMGN3</span> Protein-coding gene in the species Homo sapiens

High mobility group nucleosome-binding domain-containing protein 3 is a protein that in humans is encoded by the HMGN3 gene.

<span class="mw-page-title-main">GPHB5</span> Protein-coding gene in the species Homo sapiens

Glycoprotein hormone beta-5 is a protein that in humans is encoded by the GPHB5 gene.

<span class="mw-page-title-main">Protein moonlighting</span> Proteins performing more than one function

Protein moonlighting is a phenomenon by which a protein can perform more than one function. It is an excellent example of gene sharing.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000103316 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030905 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Chen H, Phillips HA, Callen DF, Kim RY, Wistow GJ, Antonarakis SE (Feb 1993). "Localization of the human gene for mu-crystallin to chromosome 16p". Genomics. 14 (4): 1115–6. doi: 10.1016/S0888-7543(05)80143-0 . PMID   1478656.
  6. 1 2 "Entrez Gene: CRYM crystallin, mu".
  7. Hallen A, Cooper AJ, Jamie JF, Haynes PA, Willows RD (February 2011). "Mammalian forebrain ketimine reductase identified as μ-crystallin; potential regulation by thyroid hormones". J Neurochem. 118 (3): 379–387. doi:10.1111/j.1471-4159.2011.07220.x. PMID   21332720. S2CID   2081522.
  8. Oshima A, Suzuki S, Takumi Y, Hashizume K, Abe S, Usami S (June 2006). "CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea". J. Med. Genet. 43 (6): e25. doi:10.1136/jmg.2005.034397. PMC   2564543 . PMID   16740909.
  9. Abe S, Katagiri T, Saito-Hisaminato A, Usami S, Inoue Y, Tsunoda T, Nakamura Y (January 2003). "Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues". Am. J. Hum. Genet. 72 (1): 73–82. doi:10.1086/345398. PMC   420014 . PMID   12471561.
  10. Suzuki S, Suzuki N, Mori J, Oshima A, Usami S, Hashizume K (April 2007). "micro-Crystallin as an intracellular 3,5,3'-triiodothyronine holder in vivo". Mol. Endocrinol. 21 (4): 885–94. doi: 10.1210/me.2006-0403 . PMID   17264173.
  11. Dietrich JW (2002). Der Hypophysen-Schilddrüsen-Regelkreis. Entwicklung und klinische Anwendung eines nichtlinearen Modells[The pituitary-thyroid control loop. Development and clinical application of a nonlinear model] (in German). Berlin: Logos-Verlag. ISBN   3-89722-850-5.
  12. Dietrich JW, Tesche A, Pickardt CR, Mitzdorf U (2004). "Thyrotropic Feedback Control: Evidence for an Additional Ultrashort Feedback Loop from Fractal Analysis". Cybernetics and Systems. 35 (4): 315–31. doi:10.1080/01969720490443354. S2CID   13421388.

Further reading