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Protein

Gamma-crystallin C

Gene

CRYGC

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

  • visual perception Source: UniProtKB

Keywordsi

Molecular functionEye lens protein

Enzyme and pathway databases

SIGNORiP07315

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-crystallin C
Alternative name(s):
Gamma-C-crystallin
Gamma-crystallin 2-1
Gamma-crystallin 3
Gene namesi
Name:CRYGC
Synonyms:CRYG3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000163254.4
HGNCiHGNC:2410 CRYGC
MIMi123680 gene
neXtProtiNX_P07315

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 2, multiple types (CTRCT2)7 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. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
See also OMIM:604307
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0211425T → P in CTRCT2; affects protein-protein interactions. 2 PublicationsCorresponds to variant dbSNP:rs104893618EnsemblClinVar.1
Natural variantiVAR_067212129G → C in CTRCT2. 1 PublicationCorresponds to variant dbSNP:rs137853924EnsemblClinVar.1
Natural variantiVAR_021144168R → W in CTRCT2; congenital lamellar cataract; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs28931604EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi1420
MalaCardsiCRYGC
MIMi604307 phenotype
OpenTargetsiENSG00000163254
Orphaneti1377 Cataract-microcornea syndrome
98986 Coppock-like cataract
98984 Pulverulent cataract
98995 Zonular cataract
PharmGKBiPA26917

Polymorphism and mutation databases

BioMutaiCRYGC
DMDMi117464

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000575872 – 174Gamma-crystallin CAdd BLAST173

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei23S-methylcysteine1 Publication1

Keywords - PTMi

Methylation

Proteomic databases

PaxDbiP07315
PeptideAtlasiP07315
PRIDEiP07315

PTM databases

iPTMnetiP07315
PhosphoSitePlusiP07315

Expressioni

Gene expression databases

BgeeiENSG00000163254
CleanExiHS_CRYGC
ExpressionAtlasiP07315 baseline and differential
GenevisibleiP07315 HS

Interactioni

Subunit structurei

Monomer.By similarity

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi107810, 9 interactors
IntActiP07315, 4 interactors
MINTiP07315
STRINGi9606.ENSP00000282141

Structurei

Secondary structure

1174
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi4 – 9Combined sources6
Turni10 – 12Combined sources3
Beta strandi13 – 21Combined sources9
Turni27 – 29Combined sources3
Beta strandi34 – 38Combined sources5
Beta strandi40 – 48Combined sources9
Turni49 – 51Combined sources3
Beta strandi52 – 58Combined sources7
Beta strandi60 – 65Combined sources6
Helixi66 – 69Combined sources4
Beta strandi78 – 82Combined sources5
Beta strandi89 – 95Combined sources7
Turni96 – 98Combined sources3
Beta strandi99 – 105Combined sources7
Helixi112 – 115Combined sources4
Beta strandi122 – 129Combined sources8
Beta strandi131 – 136Combined sources6
Turni137 – 139Combined sources3
Beta strandi140 – 146Combined sources7
Beta strandi148 – 151Combined sources4
Turni154 – 158Combined sources5
Beta strandi165 – 169Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1LFEmodel-A1-174[»]
2NBRNMR-A2-174[»]
ProteinModelPortaliP07315
SMRiP07315
ModBaseiSearch...
MobiDBiSearch...

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
InParanoidiP07315
OMAiEKEDHKG
OrthoDBiEOG091G0L2P
PhylomeDBiP07315

Family and domain databases

InterProiView protein in InterPro
IPR001064 Beta/gamma_crystallin
IPR033483 CRYGC
IPR011024 G_crystallin-like
PANTHERiPTHR11818:SF32 PTHR11818:SF32, 1 hit
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.

P07315-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGKITFYEDR AFQGRSYETT TDCPNLQPYF SRCNSIRVES GCWMLYERPN
60 70 80 90 100
YQGQQYLLRR GEYPDYQQWM GLSDSIRSCC LIPQTVSHRL RLYEREDHKG
110 120 130 140 150
LMMELSEDCP SIQDRFHLSE IRSLHVLEGC WVLYELPNYR GRQYLLRPQE
160 170
YRRCQDWGAM DAKAGSLRRV VDLY
Length:174
Mass (Da):20,879
Last modified:January 23, 2007 - v2
Checksum:iB01DC167171A7668
GO

Mass spectrometryi

Molecular mass is 20747±0.2 Da from positions 2 - 174. Determined by ESI. 1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0211425T → P in CTRCT2; affects protein-protein interactions. 2 PublicationsCorresponds to variant dbSNP:rs104893618EnsemblClinVar.1
Natural variantiVAR_0384326F → L. Corresponds to variant dbSNP:rs2242072Ensembl.1
Natural variantiVAR_02114348R → H2 PublicationsCorresponds to variant dbSNP:rs61751949EnsemblClinVar.1
Natural variantiVAR_067212129G → C in CTRCT2. 1 PublicationCorresponds to variant dbSNP:rs137853924EnsemblClinVar.1
Natural variantiVAR_021144168R → W in CTRCT2; congenital lamellar cataract; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs28931604EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M11973, M11972 Genomic DNA Translation: AAA52114.1
K03004, K03003 Genomic DNA Translation: AAA52111.1
M19364 Genomic DNA Translation: AAA52110.1
U66582 mRNA Translation: AAC50899.1
AC093698 Genomic DNA Translation: AAY24042.1
CH471063 Genomic DNA Translation: EAW70433.1
BC074954 mRNA Translation: AAH74954.1
BC074955 mRNA Translation: AAH74955.1
CCDSiCCDS2379.1
PIRiB24520 CYHUG2
RefSeqiNP_066269.1, NM_020989.3
XP_011508964.1, XM_011510662.1
UniGeneiHs.72910

Genome annotation databases

EnsembliENST00000282141; ENSP00000282141; ENSG00000163254
GeneIDi1420
KEGGihsa:1420
UCSCiuc002vco.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCRGC_HUMAN
AccessioniPrimary (citable) accession number: P07315
Secondary accession number(s): Q53R50
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: January 23, 2007
Last modified: May 23, 2018
This is version 173 of the entry and version 2 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 chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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