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    CRYM crystallin mu [ Homo sapiens (human) ]

    Gene ID: 1428, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21258521..21303062, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (21193814..21238355, complement)
    RS_2024_09 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 ATP binding cassette subfamily A member 15, pseudogene 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 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. Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis. Daoud H, et al. Arch Neurol, 2011 May. PMID 21220648
    2. 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
    3. High affinity thyroid hormone-binding protein in human kidney: kinetic characterization and identification by photoaffinity labeling. Vié MP, et al. Endocrinology, 1996 Nov. PMID 8895318
    4. Mammalian forebrain ketimine reductase identified as ÎĽ-crystallin; potential regulation by thyroid hormones. Hallen A, et al. J Neurochem, 2011 Aug. PMID 21332720
    5. Crystallin-gazing: unveiling enzymatic activity. Reed PW, et al. J Neurochem, 2011 Aug. PMID 21418222, Free PMC Article

    See all (46) 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
    		Compare labs

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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