Format

Send to:

Choose Destination

CRYM crystallin mu [ Homo sapiens (human) ]

Gene ID: 1428, updated on 7-Dec-2018

Summary

Official Symbol
CRYMprovided by HGNC
Official Full Name
crystallin muprovided by HGNC
Primary source
HGNC:HGNC:2418
See related
Ensembl:ENSG00000103316 MIM:123740
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

Genomic context

See CRYM in Genome Data Viewer
Location:
16p12.2
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (21258518..21303136, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21269839..21314404, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene zona pellucida glycoprotein 2 Neighboring gene uncharacterized LOC105371123 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 4B Neighboring gene uncharacterized LOC105371125 Neighboring gene CRYM antisense RNA 1 Neighboring gene sorting nexin 29 pseudogene 1 Neighboring gene nuclear pore complex interacting protein family member B3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism, organism-specific biosystem (from REACTOME)
    Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism, organism-specific biosystemThe catabolic pathways of histidine, lysine, phenylalanine, tyrosine, proline and tryptophan are described in this section (Berg et al. 2002).
  • L-lysine degradation II (L-pipecolate pathway), conserved biosystem (from BIOCYC)
    L-lysine degradation II (L-pipecolate pathway), conserved biosystemGeneral Background |FRAME: LYS "Lysine"| is an essential amino acid and its catabolism is unique among the common amino acids in that it proceeds via two distinct major pathways, the |FRAME: LYSINE-...
  • Lysine catabolism, organism-specific biosystem (from REACTOME)
    Lysine catabolism, organism-specific biosystemIn humans, most catabolism of L-lysine normally proceeds via a sequence of seven reactions which feeds into the pathway for fatty acid catabolism. In the first two reactions, catalyzed by a single en...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • lysine degradation II (pipecolate pathway), organism-specific biosystem (from BIOCYC)
    lysine degradation II (pipecolate pathway), organism-specific biosystemGeneral Background : LYS "Lysine" is an essential amino acid and its catabolism is unique among the common amino acids in that it proceeds via two distinct major pathways, the : LYSINE-DEG1-PWY and ...
  • superpathway of L-lysine degradation, conserved biosystem (from BIOCYC)
    superpathway of L-lysine degradation, conserved biosystemL-Lysine degradation is varied among microorganisms, animals and plants. Although many initiating reactions have been studied, in some organisms not all subsequent reactions have been described. In...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADP binding IDA
Inferred from Direct Assay
more info
PubMed 
hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
thiomorpholine-carboxylate dehydrogenase activity TAS
Traceable Author Statement
more info
 
thyroid hormone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thyroid hormone binding IDA
Inferred from Direct Assay
more info
PubMed 
thyroid hormone binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription corepressor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
lysine catabolic process TAS
Traceable Author Statement
more info
 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
thyroid hormone metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thyroid hormone transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
peroxisomal matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ketimine reductase mu-crystallin
Names
NADP-regulated thyroid-hormone binding protein
mu-crystallin homolog
thiomorpholine-carboxylate dehydrogenase
NP_001879.1
XP_024305925.1

NCBI Reference Sequences (RefSeq)

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
    4961..49579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001888.5NP_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
    Q14894
    Related
    ENSP00000219599.3, ENST00000219599.7
    Conserved Domains (1) summary
    pfam02423
    Location:4313
    OCD_Mu_crystall; Ornithine cyclodeaminase/mu-crystallin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    21258518..21303136 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450157.1XP_024305925.1  ketimine reductase mu-crystallin isoform X1

    Conserved Domains (1) summary
    pfam02423
    Location:4313
    OCD_Mu_crystall; Ornithine cyclodeaminase/mu-crystallin family

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_017852933.1 Reference GRCh38.p12 PATCHES

    Range
    82209..126828 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.
Support Center