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Protein

Gamma-crystallin D

Gene

CRYGD

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

Functioni

Crystallins are the dominant structural components of the vertebrate eye lens.

GO - Molecular functioni

  • structural constituent of eye lens Source: UniProtKB

GO - Biological processi

  • cellular response to reactive oxygen species Source: UniProtKB
  • lens development in camera-type eye Source: UniProtKB
  • lens fiber cell differentiation Source: UniProtKB
  • visual perception Source: UniProtKB

Keywordsi

Molecular functionEye lens protein
Biological processSensory transduction, Vision

Enzyme and pathway databases

SIGNORiP07320

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-crystallin D
Alternative name(s):
Gamma-D-crystallin
Gamma-crystallin 4
Gene namesi
Name:CRYGD
Synonyms:CRYG4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000118231.4
HGNCiHGNC:2411 CRYGD
MIMi123690 gene
neXtProtiNX_P07320

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

Pathology & Biotechi

Involvement in diseasei

Cataract 4, multiple types (CTRCT4)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non-nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract.
See also OMIM:115700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01073315R → C in CTRCT4; progressive punctate cataract with early onset; causes disulfide-linked oligomers formation with consequent protein aggregation and precipitation. 2 PublicationsCorresponds to variant dbSNP:rs121909595EnsemblClinVar.1
Natural variantiVAR_03495524P → S in CTRCT4; lowered solubility. 2 PublicationsCorresponds to variant dbSNP:rs28931605EnsemblClinVar.1
Natural variantiVAR_02114524P → T in CTRCT4; lowered solubility. 3 PublicationsCorresponds to variant dbSNP:rs28931605EnsemblClinVar.1
Natural variantiVAR_01073437R → S in CTRCT4; very low solubility; crystallizes spontaneously. 2 PublicationsCorresponds to variant dbSNP:rs121909597EnsemblClinVar.1
Natural variantiVAR_06482943W → R in CTRCT4; much less stable than the wild-type protein; more prone to aggregate when subjected to environmental stresses such as heat and UV irradiation. 1 Publication1
Natural variantiVAR_01073559R → H in CTRCT4; lowered solubility; crystallizes easily. 3 PublicationsCorresponds to variant dbSNP:rs121909596EnsemblClinVar.1
Natural variantiVAR_034956107E → A in CTRCT4. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi24 – 25PN → TK: Wild-type solubility. 2
Mutagenesisi24P → TP: Wild-type solubility. 1 Publication1
Mutagenesisi24P → V: Slightly lowered solubility. 1 Publication1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi1421
MalaCardsiCRYGD
MIMi115700 phenotype
OpenTargetsiENSG00000118231
Orphaneti1377 Cataract-microcornea syndrome
98989 Cerulean cataract
98990 Coralliform cataract
441452 Early-onset lamellar cataract
98991 Early-onset nuclear cataract
98984 Pulverulent cataract
PharmGKBiPA26918

Polymorphism and mutation databases

BioMutaiCRYGD
DMDMi2506321

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000575882 – 174Gamma-crystallin DAdd BLAST173

Proteomic databases

EPDiP07320
MaxQBiP07320
PaxDbiP07320
PeptideAtlasiP07320
PRIDEiP07320
ProteomicsDBi51987

PTM databases

iPTMnetiP07320
PhosphoSitePlusiP07320

Expressioni

Gene expression databases

BgeeiENSG00000118231 Expressed in 88 organ(s), highest expression level in left ovary
CleanExiHS_CRYGD
ExpressionAtlasiP07320 baseline and differential
GenevisibleiP07320 HS

Organism-specific databases

HPAiHPA041269

Interactioni

Subunit structurei

Monomer.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi107811, 5 interactors
DIPiDIP-46208N
IntActiP07320, 2 interactors
MINTiP07320
STRINGi9606.ENSP00000264376

Structurei

Secondary structure

1174
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP07320
SMRiP07320
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP07320

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 40Beta/gamma crystallin 'Greek key' 1PROSITE-ProRule annotationAdd BLAST39
Domaini41 – 83Beta/gamma crystallin 'Greek key' 2PROSITE-ProRule annotationAdd BLAST43
Domaini88 – 128Beta/gamma crystallin 'Greek key' 3PROSITE-ProRule annotationAdd BLAST41
Domaini129 – 171Beta/gamma crystallin 'Greek key' 4PROSITE-ProRule annotationAdd BLAST43

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni84 – 87Connecting peptide4

Domaini

Has a two-domain beta-structure, folded into four very similar Greek key motifs.

Sequence similaritiesi

Belongs to the beta/gamma-crystallin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IWCR Eukaryota
ENOG411298R LUCA
GeneTreeiENSGT00760000118812
HOGENOMiHOG000234389
HOVERGENiHBG003364
InParanoidiP07320
OMAiQMIEITE
OrthoDBiEOG091G0L2P
PhylomeDBiP07320

Family and domain databases

InterProiView protein in InterPro
IPR001064 Beta/gamma_crystallin
IPR011024 G_crystallin-like
PfamiView protein in Pfam
PF00030 Crystall, 2 hits
PRINTSiPR01367 BGCRYSTALLIN
SMARTiView protein in SMART
SM00247 XTALbg, 2 hits
SUPFAMiSSF49695 SSF49695, 1 hit
PROSITEiView protein in PROSITE
PS50915 CRYSTALLIN_BETA_GAMMA, 4 hits

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P07320-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGKITLYEDR GFQGRHYECS SDHPNLQPYL SRCNSARVDS GCWMLYEQPN
60 70 80 90 100
YSGLQYFLRR GDYADHQQWM GLSDSVRSCR LIPHSGSHRI RLYEREDYRG
110 120 130 140 150
QMIEFTEDCS CLQDRFRFNE IHSLNVLEGS WVLYELSNYR GRQYLLMPGD
160 170
YRRYQDWGAT NARVGSLRRV IDFS
Length:174
Mass (Da):20,738
Last modified:January 23, 2007 - v3
Checksum:i437EC83FD79F12E4
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01073315R → C in CTRCT4; progressive punctate cataract with early onset; causes disulfide-linked oligomers formation with consequent protein aggregation and precipitation. 2 PublicationsCorresponds to variant dbSNP:rs121909595EnsemblClinVar.1
Natural variantiVAR_03495524P → S in CTRCT4; lowered solubility. 2 PublicationsCorresponds to variant dbSNP:rs28931605EnsemblClinVar.1
Natural variantiVAR_02114524P → T in CTRCT4; lowered solubility. 3 PublicationsCorresponds to variant dbSNP:rs28931605EnsemblClinVar.1
Natural variantiVAR_01073437R → S in CTRCT4; very low solubility; crystallizes spontaneously. 2 PublicationsCorresponds to variant dbSNP:rs121909597EnsemblClinVar.1
Natural variantiVAR_06482943W → R in CTRCT4; much less stable than the wild-type protein; more prone to aggregate when subjected to environmental stresses such as heat and UV irradiation. 1 Publication1
Natural variantiVAR_01073559R → H in CTRCT4; lowered solubility; crystallizes easily. 3 PublicationsCorresponds to variant dbSNP:rs121909596EnsemblClinVar.1
Natural variantiVAR_021146102M → V2 Publications1
Natural variantiVAR_034956107E → A in CTRCT4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K03006, K03005 Genomic DNA Translation: AAA52112.1
U66583 mRNA Translation: AAB38686.1
AC093698 Genomic DNA Translation: AAY24041.1
BC117338 mRNA Translation: AAI17339.1
BC117340 mRNA Translation: AAI17341.1
CCDSiCCDS2378.1
PIRiI77413
RefSeqiNP_008822.2, NM_006891.3
UniGeneiHs.546247

Genome annotation databases

EnsembliENST00000264376; ENSP00000264376; ENSG00000118231
ENST00000644920; ENSP00000496652; ENSG00000285434
GeneIDi1421
KEGGihsa:1421
UCSCiuc002vcn.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Eye disease Crystallin, gamma-D (CRYGD)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K03006, K03005 Genomic DNA Translation: AAA52112.1
U66583 mRNA Translation: AAB38686.1
AC093698 Genomic DNA Translation: AAY24041.1
BC117338 mRNA Translation: AAI17339.1
BC117340 mRNA Translation: AAI17341.1
CCDSiCCDS2378.1
PIRiI77413
RefSeqiNP_008822.2, NM_006891.3
UniGeneiHs.546247

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1H4AX-ray1.15X2-174[»]
1HK0X-ray1.25X2-174[»]
1LD0model-A1-174[»]
2G98X-ray2.20A/B2-174[»]
2KFBNMR-A2-174[»]
2KLJOther-A2-174[»]
4GR7X-ray1.70A/X2-174[»]
4JGFX-ray2.50A/B2-172[»]
ProteinModelPortaliP07320
SMRiP07320
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107811, 5 interactors
DIPiDIP-46208N
IntActiP07320, 2 interactors
MINTiP07320
STRINGi9606.ENSP00000264376

PTM databases

iPTMnetiP07320
PhosphoSitePlusiP07320

Polymorphism and mutation databases

BioMutaiCRYGD
DMDMi2506321

Proteomic databases

EPDiP07320
MaxQBiP07320
PaxDbiP07320
PeptideAtlasiP07320
PRIDEiP07320
ProteomicsDBi51987

Protocols and materials databases

DNASUi1421
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264376; ENSP00000264376; ENSG00000118231
ENST00000644920; ENSP00000496652; ENSG00000285434
GeneIDi1421
KEGGihsa:1421
UCSCiuc002vcn.5 human

Organism-specific databases

CTDi1421
DisGeNETi1421
EuPathDBiHostDB:ENSG00000118231.4
GeneCardsiCRYGD
HGNCiHGNC:2411 CRYGD
HPAiHPA041269
MalaCardsiCRYGD
MIMi115700 phenotype
123690 gene
neXtProtiNX_P07320
OpenTargetsiENSG00000118231
Orphaneti1377 Cataract-microcornea syndrome
98989 Cerulean cataract
98990 Coralliform cataract
441452 Early-onset lamellar cataract
98991 Early-onset nuclear cataract
98984 Pulverulent cataract
PharmGKBiPA26918
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWCR Eukaryota
ENOG411298R LUCA
GeneTreeiENSGT00760000118812
HOGENOMiHOG000234389
HOVERGENiHBG003364
InParanoidiP07320
OMAiQMIEITE
OrthoDBiEOG091G0L2P
PhylomeDBiP07320

Enzyme and pathway databases

SIGNORiP07320

Miscellaneous databases

EvolutionaryTraceiP07320
GeneWikiiCrystallin,_gamma_D
GenomeRNAii1421
PROiPR:P07320
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118231 Expressed in 88 organ(s), highest expression level in left ovary
CleanExiHS_CRYGD
ExpressionAtlasiP07320 baseline and differential
GenevisibleiP07320 HS

Family and domain databases

InterProiView protein in InterPro
IPR001064 Beta/gamma_crystallin
IPR011024 G_crystallin-like
PfamiView protein in Pfam
PF00030 Crystall, 2 hits
PRINTSiPR01367 BGCRYSTALLIN
SMARTiView protein in SMART
SM00247 XTALbg, 2 hits
SUPFAMiSSF49695 SSF49695, 1 hit
PROSITEiView protein in PROSITE
PS50915 CRYSTALLIN_BETA_GAMMA, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCRGD_HUMAN
AccessioniPrimary (citable) accession number: P07320
Secondary accession number(s): Q17RF7, Q53R51, Q99681
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 191 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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