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CRYM crystallin mu [ Homo sapiens (human) ]

Gene ID: 1428, updated on 24-Mar-2024

Summary

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Official Symbol
CRYMprovided by HGNC
Official Full Name
crystallin muprovided by HGNC
Primary source
HGNC:HGNC:2418
See related
Ensembl:ENSG00000103316 MIM:123740; AllianceGenome:HGNC:2418
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
THBP; DFNA40
Summary
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]
Expression
Biased expression in heart (RPKM 46.6), brain (RPKM 32.2) and 9 other tissues See more
Orthologs
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Genomic context

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See CRYM in Genome Data Viewer
Location:
16p12.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21258521..21303062, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (21193814..21238355, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21269842..21314383, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371123 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10553 Neighboring gene uncharacterized LOC105371125 Neighboring gene Sharpr-MPRA regulatory region 10772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7250 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:21313709-21314297 Neighboring gene CRYM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21358615-21359174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21360327-21361134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21361135-21361940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21365500-21366000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21370782-21371421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21371422-21372060 Neighboring gene sorting nexin 29 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21391363-21391864 Neighboring gene nuclear pore complex interacting protein family member B3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Thyroid and androgen receptor signaling are antagonized by ÎĽ-Crystallin in prostate cancer. Aksoy O, et al. Int J Cancer, 2021 Feb 1. PMID 33034050, Free PMC Article
  2. Ketimine reductase/CRYM catalyzes reductive alkylamination of α-keto acids, confirming its function as an imine reductase. Hallen A, et al. Amino Acids, 2015 Nov. PMID 26173510
  3. Insights into Enzyme Catalysis and Thyroid Hormone Regulation of Cerebral Ketimine Reductase/ÎĽ-Crystallin Under Physiological Conditions. Hallen A, et al. Neurochem Res, 2015 Jun. PMID 25931162
  4. Adipose tissue ÎĽ-crystallin is a thyroid hormone-binding protein associated with systemic insulin sensitivity. Serrano M, et al. J Clin Endocrinol Metab, 2014 Nov. PMID 25057873
  5. Crystallin-gazing: unveiling enzymatic activity. Reed PW, et al. J Neurochem, 2011 Aug. PMID 21418222, Free PMC Article

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Crym-positive striatal astrocytes gate perseverative behaviour.
    Title: Crym-positive striatal astrocytes gate perseverative behaviour.
  2. Gene expression patterns of CRYM and SIGLEC10 in Alzheimer's disease: potential early diagnostic indicators.
    Title: Gene expression patterns of CRYM and SIGLEC10 in Alzheimer's disease: potential early diagnostic indicators.
  3. Thyroid and androgen receptor signaling are antagonized by mu-Crystallin in prostate cancer.
    Title: Thyroid and androgen receptor signaling are antagonized by ÎĽ-Crystallin in prostate cancer.
  4. Results suggest that mu-crystallin may play roles in development of cortical and hippocampal pyramidal cells in the early postnatal period, and in the later period, performs cell-specific functions in selected neuronal populations.
    Title: Expression of CRYM in different rat organs during development and its decreased expression in degenerating pyramidal tracts in amyotrophic lateral sclerosis.
  5. These findings confirm that, mechanistically, ketimine reductase/CRYM acts as a classical imine reductase and may explain the finding of bound pyruvate in the crystallized protein.
    Title: Ketimine reductase/CRYM catalyzes reductive alkylamination of α-keto acids, confirming its function as an imine reductase.
  6. ketimine reductase is a key enzyme in the pipecolate pathway, which is the main lysine degradation pathway in the brain
    Title: Insights into Enzyme Catalysis and Thyroid Hormone Regulation of Cerebral Ketimine Reductase/ÎĽ-Crystallin Under Physiological Conditions.
  7. The expression of mu-crystallin was regulated through the AP-1 site in the promoter.
    Title: Possible roles of the AP-1 site in the cytosolic T3 binding protein promoter and insights into its physiological significance.
  8. The purified human mu-crystallin was confirmed to have ketimine reductase activity with a maximum specific activity similar to that of native ovine ketimine reductase
    Title: Mammalian forebrain ketimine reductase identified as ÎĽ-crystallin; potential regulation by thyroid hormones.
  9. Its ketimine reductase activity is strongly inhibited by thyroid hormones.
    Title: Mammalian forebrain ketimine reductase identified as ÎĽ-crystallin; potential regulation by thyroid hormones.
  10. Its enzyme function has been determined as a ketimine reductase in mammalian brain.
    Title: Mammalian forebrain ketimine reductase identified as ÎĽ-crystallin; potential regulation by thyroid hormones.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal dominant nonsyndromic hearing loss 40
MedGen: C4084708 OMIM: 616357 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables thiomorpholine-carboxylate dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables thiomorpholine-carboxylate dehydrogenase activity TAS
Traceable Author Statement
more info
  
enables thyroid hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables thyroid hormone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables thyroid hormone binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables transcription corepressor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in lysine catabolic process TAS
Traceable Author Statement
more info
  
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in thyroid hormone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in thyroid hormone transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in extracellular exosome HDA PubMed 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
ketimine reductase mu-crystallin
Names
NADP-regulated thyroid-hormone binding protein
mu-crystallin homolog
thiomorpholine-carboxylate dehydrogenase
NP_001363185.1
NP_001879.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011610.1 RefSeqGene

    Range
    29807..49576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001376256.1 → NP_001363185.1  ketimine reductase mu-crystallin

    Status: REVIEWED

    Source sequence(s)
    AK290852, BX648477
    Consensus CDS
    CCDS10597.1
    UniProtKB/Swiss-Prot
    D5MNX0, Q14894, Q5HYB7
    Related
    ENSP00000461904.2, ENST00000572914.2
    Conserved Domains (1) summary
    pfam02423
    Location:4 → 314
    OCD_Mu_crystall; Ornithine cyclodeaminase/mu-crystallin family

  2. NM_001888.5 → NP_001879.1  ketimine reductase mu-crystallin

    See identical proteins and their annotated locations for NP_001879.1

    Status: REVIEWED

    Source sequence(s)
    AK290852, BG033512, BX648477, L02950
    Consensus CDS
    CCDS10597.1
    UniProtKB/Swiss-Prot
    D5MNX0, Q14894, Q5HYB7
    Related
    ENSP00000219599.3, ENST00000219599.8
    Conserved Domains (1) summary
    pfam02423
    Location:4 → 314
    OCD_Mu_crystall; Ornithine cyclodeaminase/mu-crystallin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    21258521..21303062 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_017852933.1 Reference GRCh38.p14 PATCHES

    Range
    82212..126754 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    21193814..21238355 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001014444.2: Suppressed sequence

    Description
    NM_001014444.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14894.1 GenPept UniProtKB/Swiss-Prot:Q14894

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