CRYM

Protein identityUniProt · HPA

UniProt accession

Q14894

Gene

CRYM

Ensembl

ENSG00000103316

Chromosome

16

Canonical length

314 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

314 residues, UniProt reviewed canonical sequence.

>Q14894|CRYM
     1  MSRVPAFLSA AEVEEHLRSS SLLIPPLETA LANFSSGPEG GVMQPVRTVV PVTKHRGYLG
    61  VMPAYSAAED ALTTKLVTFY EDRGITSVVP SHQATVLLFE PSNGTLLAVM DGNVITAKRT
   121  AAVSAIATKF LKPPSSEVLC ILGAGVQAYS HYEIFTEQFS FKEVRIWNRT KENAEKFADT
   181  VQGEVRVCSS VQEAVAGADV IITVTLATEP ILFGEWVKPG AHINAVGASR PDWRELDDEL
   241  MKEAVLYVDS QEAALKESGD VLLSGAEIFA ELGEVIKGVK PAHCEKTTVF KSLGMAVEDT
   301  VAAKLIYDSW SSGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CRYM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

302 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CRYM.

Disease | AllUniProt

Conditions CRYM is implicated in, by any mechanism.

• Deafness, autosomal dominant, 40 (DFNA40) MIM:616357

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.76

gnomAD pLI

0.03

gnomAD missense Z

0.98

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• lysine catabolic process
• negative regulation of transcription by RNA polymerase II
• sensory perception of sound
• thyroid hormone metabolic process
• thyroid hormone transport

Molecular functions

• NADP binding
• protein homodimerization activity
• thyroid hormone binding
• transcription corepressor activity
• delta1-piperideine-2-carboxylate reductase activity
• pyrroline-2-carboxylate reductase activity
• thiomorpholine-carboxylate dehydrogenase activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome
• mitochondrion
• nucleus
• peroxisomal matrix

Protein domainsUniProt · Pfam · InterPro

• NAD(P)-binding domain superfamily
• Ornithine cyclodeaminase/mu-crystallin
• Ornithine cyclodeaminase, N-terminal
• Ornithine cyclodeaminase/mu-crystallin family

KeywordsUniProt

• Cytoplasm
• Deafness
• NAD
• NADP
• Non-syndromic deafness
• Oxidoreductase