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Protein

Ketimine reductase mu-crystallin

Gene

CRYM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors.1 Publication

Catalytic activityi

Thiomorpholine 3-carboxylate + NAD(P)+ = 3,4-dehydro-thiomorpholine-3-carboxylate + NAD(P)H.1 Publication

Cofactori

NAD+2 Publications, NADP+2 Publications

Kineticsi

  1. KM=47 µM for 3,4-dehydro-thiomorpholine-3-carboxylate (at pH 5.0 and 37 degrees Celsius)1 Publication
  2. KM=3.6 µM for NADH (at pH 5.0 and 37 degrees Celsius)1 Publication
  1. Vmax=9.6 µmol/min/mg enzyme with 3,4-dehydro-thiomorpholine-3-carboxylate as substrate (at pH 5.0 and 37 degrees Celsius)1 Publication

pH dependencei

Optimum pH is 4.5.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei168NADP1 Publication1
Binding sitei169NADP1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi143 – 148NADP1 Publication6

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
LigandNAD, NADP

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000103316-MONOMER
ReactomeiR-HSA-71064 Lysine catabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Ketimine reductase mu-crystallin (EC:1.5.1.25)
Alternative name(s):
NADP-regulated thyroid-hormone-binding protein
Gene namesi
Name:CRYM
Synonyms:THBP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103316.10
HGNCiHGNC:2418 CRYM
MIMi123740 gene
neXtProtiNX_Q14894

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 40 (DFNA40)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:616357
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073780314K → KYNKGT in DFNA40. 1 Publication1
Natural variantiVAR_073781314K → T in DFNA40. 1 PublicationCorresponds to variant dbSNP:rs104894512EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi1428
MalaCardsiCRYM
MIMi616357 phenotype
OpenTargetsiENSG00000103316
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA26924

Chemistry databases

DrugBankiDB05235 NRP409

Polymorphism and mutation databases

BioMutaiCRYM
DMDMi2498259

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002006781 – 314Ketimine reductase mu-crystallinAdd BLAST314

Proteomic databases

EPDiQ14894
PaxDbiQ14894
PeptideAtlasiQ14894
PRIDEiQ14894
ProteomicsDBi60215

PTM databases

iPTMnetiQ14894
PhosphoSitePlusiQ14894

Expressioni

Tissue specificityi

Expressed in neural tissue, muscle and kidney.

Gene expression databases

BgeeiENSG00000103316 Expressed in 194 organ(s), highest expression level in caudate nucleus
CleanExiHS_CRYM
ExpressionAtlasiQ14894 baseline and differential
GenevisibleiQ14894 HS

Organism-specific databases

HPAiHPA019086
HPA030619

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
TERF1P542742EBI-7107048,EBI-710997

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107815, 5 interactors
IntActiQ14894, 4 interactors
MINTiQ14894
STRINGi9606.ENSP00000219599

Structurei

Secondary structure

1314
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ14894
SMRiQ14894
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14894

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3007 Eukaryota
COG2423 LUCA
GeneTreeiENSGT00390000000237
HOGENOMiHOG000137263
HOVERGENiHBG005408
InParanoidiQ14894
KOiK18258
OMAiHTHINAM
OrthoDBiEOG091G0NR8
PhylomeDBiQ14894
TreeFamiTF105309

Family and domain databases

Gene3Di3.30.1780.10, 2 hits
InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR003462 ODC_Mu_crystall
IPR023401 ODC_N
PANTHERiPTHR13812 PTHR13812, 1 hit
PfamiView protein in Pfam
PF02423 OCD_Mu_crystall, 1 hit
PIRSFiPIRSF001439 CryM, 1 hit
SUPFAMiSSF51735 SSF51735, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q14894-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSRVPAFLSA AEVEEHLRSS SLLIPPLETA LANFSSGPEG GVMQPVRTVV
60 70 80 90 100
PVTKHRGYLG VMPAYSAAED ALTTKLVTFY EDRGITSVVP SHQATVLLFE
110 120 130 140 150
PSNGTLLAVM DGNVITAKRT AAVSAIATKF LKPPSSEVLC ILGAGVQAYS
160 170 180 190 200
HYEIFTEQFS FKEVRIWNRT KENAEKFADT VQGEVRVCSS VQEAVAGADV
210 220 230 240 250
IITVTLATEP ILFGEWVKPG AHINAVGASR PDWRELDDEL MKEAVLYVDS
260 270 280 290 300
QEAALKESGD VLLSGAEIFA ELGEVIKGVK PAHCEKTTVF KSLGMAVEDT
310
VAAKLIYDSW SSGK
Length:314
Mass (Da):33,776
Last modified:November 1, 1997 - v1
Checksum:iA49D316B41CE6648
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L325I3L325_HUMAN
Ketimine reductase mu-crystallin
CRYM
241Annotation score:
I3L2W5I3L2W5_HUMAN
Ketimine reductase mu-crystallin
CRYM
165Annotation score:
I3NI53I3NI53_HUMAN
Ketimine reductase mu-crystallin
CRYM
140Annotation score:
I3L3Y1I3L3Y1_HUMAN
Ketimine reductase mu-crystallin
CRYM
97Annotation score:
I3L3J9I3L3J9_HUMAN
Ketimine reductase mu-crystallin
CRYM
25Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073780314K → KYNKGT in DFNA40. 1 Publication1
Natural variantiVAR_073781314K → T in DFNA40. 1 PublicationCorresponds to variant dbSNP:rs104894512EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L02950 mRNA Translation: AAC16914.1
U85772 mRNA Translation: AAB81564.1
AF039397
, AF039392, AF039393, AF039394, AF039395, AF039396 Genomic DNA Translation: AAB94938.1
AK290852 mRNA Translation: BAF83541.1
BX648477 mRNA Translation: CAI46030.1
AF001550 Genomic DNA Translation: AAB67600.1
CH471228 Genomic DNA Translation: EAW66863.1
BC018061 mRNA Translation: AAH18061.1
CCDSiCCDS10597.1
PIRiB46290
RefSeqiNP_001879.1, NM_001888.4
UniGeneiHs.924

Genome annotation databases

EnsembliENST00000219599; ENSP00000219599; ENSG00000103316
ENST00000543948; ENSP00000440227; ENSG00000103316
ENST00000639592; ENSP00000490961; ENSG00000283922
ENST00000640547; ENSP00000492104; ENSG00000283922
GeneIDi1428
KEGGihsa:1428
UCSCiuc002dim.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L02950 mRNA Translation: AAC16914.1
U85772 mRNA Translation: AAB81564.1
AF039397
, AF039392, AF039393, AF039394, AF039395, AF039396 Genomic DNA Translation: AAB94938.1
AK290852 mRNA Translation: BAF83541.1
BX648477 mRNA Translation: CAI46030.1
AF001550 Genomic DNA Translation: AAB67600.1
CH471228 Genomic DNA Translation: EAW66863.1
BC018061 mRNA Translation: AAH18061.1
CCDSiCCDS10597.1
PIRiB46290
RefSeqiNP_001879.1, NM_001888.4
UniGeneiHs.924

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2I99X-ray2.60A/B2-313[»]
ProteinModelPortaliQ14894
SMRiQ14894
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107815, 5 interactors
IntActiQ14894, 4 interactors
MINTiQ14894
STRINGi9606.ENSP00000219599

Chemistry databases

DrugBankiDB05235 NRP409

PTM databases

iPTMnetiQ14894
PhosphoSitePlusiQ14894

Polymorphism and mutation databases

BioMutaiCRYM
DMDMi2498259

Proteomic databases

EPDiQ14894
PaxDbiQ14894
PeptideAtlasiQ14894
PRIDEiQ14894
ProteomicsDBi60215

Protocols and materials databases

DNASUi1428
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000219599; ENSP00000219599; ENSG00000103316
ENST00000543948; ENSP00000440227; ENSG00000103316
ENST00000639592; ENSP00000490961; ENSG00000283922
ENST00000640547; ENSP00000492104; ENSG00000283922
GeneIDi1428
KEGGihsa:1428
UCSCiuc002dim.4 human

Organism-specific databases

CTDi1428
DisGeNETi1428
EuPathDBiHostDB:ENSG00000103316.10
GeneCardsiCRYM
HGNCiHGNC:2418 CRYM
HPAiHPA019086
HPA030619
MalaCardsiCRYM
MIMi123740 gene
616357 phenotype
neXtProtiNX_Q14894
OpenTargetsiENSG00000103316
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA26924
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3007 Eukaryota
COG2423 LUCA
GeneTreeiENSGT00390000000237
HOGENOMiHOG000137263
HOVERGENiHBG005408
InParanoidiQ14894
KOiK18258
OMAiHTHINAM
OrthoDBiEOG091G0NR8
PhylomeDBiQ14894
TreeFamiTF105309

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000103316-MONOMER
ReactomeiR-HSA-71064 Lysine catabolism

Miscellaneous databases

ChiTaRSiCRYM human
EvolutionaryTraceiQ14894
GeneWikiiCRYM
GenomeRNAii1428
PROiPR:Q14894
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103316 Expressed in 194 organ(s), highest expression level in caudate nucleus
CleanExiHS_CRYM
ExpressionAtlasiQ14894 baseline and differential
GenevisibleiQ14894 HS

Family and domain databases

Gene3Di3.30.1780.10, 2 hits
InterProiView protein in InterPro
IPR036291 NAD(P)-bd_dom_sf
IPR003462 ODC_Mu_crystall
IPR023401 ODC_N
PANTHERiPTHR13812 PTHR13812, 1 hit
PfamiView protein in Pfam
PF02423 OCD_Mu_crystall, 1 hit
PIRSFiPIRSF001439 CryM, 1 hit
SUPFAMiSSF51735 SSF51735, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCRYM_HUMAN
AccessioniPrimary (citable) accession number: Q14894
Secondary accession number(s): D5MNX0, Q5HYB7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: September 12, 2018
This is version 166 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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