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CRYM crystallin mu [ Homo sapiens (human) ]

Gene ID: 1428, updated on 8-May-2016
Official Symbol
CRYMprovided by HGNC
Official Full Name
crystallin muprovided by HGNC
Primary source
HGNC:HGNC:2418
See related
Ensembl:ENSG00000103316 HPRD:08831; MIM:123740; Vega:OTTHUMG00000090707
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]
Orthologs
Location:
16p12.2
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105371124 Neighboring gene uncharacterized LOC105371125 Neighboring gene CRYM antisense RNA 1 Neighboring gene sorting nexin 29 pseudogene 1 Neighboring gene uncharacterized LOC105371133 Neighboring gene nuclear pore complex interacting protein family member B3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADP binding IDA
Inferred from Direct Assay
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 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 from RNA polymerase II promoter 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 IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
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
 
Preferred Names
ketimine reductase mu-crystallin
Names
NADP-regulated thyroid-hormone binding protein
crystallin, mu
mu-crystallin homolog
thiomorpholine-carboxylate dehydrogenase
NP_001879.1

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_001888.4NP_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, OTTHUMP00000115878, ENST00000219599, OTTHUMT00000207398
    Conserved Domains (2) summary
    pfam02423
    Location:3313
    OCD_Mu_crystall; Ornithine cyclodeaminase/mu-crystallin family
    cl21454
    Location:8308
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011545740.1XP_011544042.1  

    See identical proteins and their annotated locations for XP_011544042.1

    UniProtKB/Swiss-Prot
    Q14894
    Conserved Domains (2) summary
    pfam02423
    Location:3313
    OCD_Mu_crystall; Ornithine cyclodeaminase/mu-crystallin family
    cl21454
    Location:8308
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    21357178..21401793 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.