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Protein

Gamma-crystallin C

Gene

CRYGC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Molecular functioni

Eye lens protein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163254-MONOMER.

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

HGNCiHGNC:2410. CRYGC.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Cataract 2, multiple types (CTRCT2)6 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 rs104893618dbSNPEnsembl.1
Natural variantiVAR_067212129G → C in CTRCT2. 1 PublicationCorresponds to variant rs137853924dbSNPEnsembl.1
Natural variantiVAR_021144168R → W in CTRCT2; congenital lamellar cataract; unknown pathological significance. 2 Publications1

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

WithEntry#Exp.IntActNotes
CRYAAP024893EBI-6875941,EBI-6875961
CRYABP025113EBI-6875941,EBI-739060

Protein-protein interaction databases

BioGridi107810. 9 interactors.
IntActiP07315. 3 interactors.
MINTiMINT-221050.
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
Contains 4 beta/gamma crystallin 'Greek key' domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IWCR. Eukaryota.
ENOG411298R. LUCA.
GeneTreeiENSGT00760000118812.
HOGENOMiHOG000234389.
HOVERGENiHBG003364.
InParanoidiP07315.
OMAiEKEDHKG.
OrthoDBiEOG091G0L2P.
PhylomeDBiP07315.

Family and domain databases

InterProiIPR001064. Beta/gamma_crystallin.
IPR033483. CRYGC.
IPR011024. G_crystallin-rel.
[Graphical view]
PANTHERiPTHR11818:SF32. PTHR11818:SF32. 1 hit.
PfamiPF00030. Crystall. 2 hits.
[Graphical view]
PRINTSiPR01367. BGCRYSTALLIN.
SMARTiSM00247. XTALbg. 2 hits.
[Graphical view]
SUPFAMiSSF49695. SSF49695. 1 hit.
PROSITEiPS50915. CRYSTALLIN_BETA_GAMMA. 4 hits.
[Graphical view]

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 rs104893618dbSNPEnsembl.1
Natural variantiVAR_0384326F → L.Corresponds to variant rs2242072dbSNPEnsembl.1
Natural variantiVAR_02114348R → H.2 PublicationsCorresponds to variant rs61751949dbSNPEnsembl.1
Natural variantiVAR_067212129G → C in CTRCT2. 1 PublicationCorresponds to variant rs137853924dbSNPEnsembl.1
Natural variantiVAR_021144168R → W in CTRCT2; congenital lamellar cataract; unknown pathological significance. 2 Publications1

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

Cross-referencesi

Web resourcesi

Eye disease Crystallin, gamma-C (CRYGC)

Leiden Open Variation Database (LOVD)

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.

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...

Protein-protein interaction databases

BioGridi107810. 9 interactors.
IntActiP07315. 3 interactors.
MINTiMINT-221050.
STRINGi9606.ENSP00000282141.

PTM databases

iPTMnetiP07315.
PhosphoSitePlusiP07315.

Polymorphism and mutation databases

BioMutaiCRYGC.
DMDMi117464.

Proteomic databases

PaxDbiP07315.
PeptideAtlasiP07315.
PRIDEiP07315.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi1420.
DisGeNETi1420.
GeneCardsiCRYGC.
HGNCiHGNC:2410. CRYGC.
MalaCardsiCRYGC.
MIMi123680. gene.
604307. phenotype.
neXtProtiNX_P07315.
OpenTargetsiENSG00000163254.
Orphaneti1377. Cataract-microcornea syndrome.
98986. Coppock-like cataract.
98984. Pulverulent cataract.
98995. Zonular cataract.
PharmGKBiPA26917.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWCR. Eukaryota.
ENOG411298R. LUCA.
GeneTreeiENSGT00760000118812.
HOGENOMiHOG000234389.
HOVERGENiHBG003364.
InParanoidiP07315.
OMAiEKEDHKG.
OrthoDBiEOG091G0L2P.
PhylomeDBiP07315.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163254-MONOMER.

Miscellaneous databases

GeneWikiiCRYGC.
GenomeRNAii1420.
PROiP07315.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163254.
CleanExiHS_CRYGC.
ExpressionAtlasiP07315. baseline and differential.
GenevisibleiP07315. HS.

Family and domain databases

InterProiIPR001064. Beta/gamma_crystallin.
IPR033483. CRYGC.
IPR011024. G_crystallin-rel.
[Graphical view]
PANTHERiPTHR11818:SF32. PTHR11818:SF32. 1 hit.
PfamiPF00030. Crystall. 2 hits.
[Graphical view]
PRINTSiPR01367. BGCRYSTALLIN.
SMARTiSM00247. XTALbg. 2 hits.
[Graphical view]
SUPFAMiSSF49695. SSF49695. 1 hit.
PROSITEiPS50915. CRYSTALLIN_BETA_GAMMA. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCRGC_HUMAN
AccessioniPrimary (citable) accession number: P07315
Secondary accession number(s): Q53R50
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 164 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.