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UniProtKB - P07315 (CRGC_HUMAN)
Protein
Gamma-crystallin C
Gene
CRYGC
Organism
Homo sapiens (Human)
Status
Functioni
Crystallins are the dominant structural components of the vertebrate eye lens.
GO - Molecular functioni
- structural constituent of eye lens Source: GO_Central
GO - Biological processi
- lens development in camera-type eye Source: GO_Central
- visual perception Source: UniProtKB
Keywordsi
Molecular function | Eye lens protein |
Enzyme and pathway databases
PathwayCommonsi | P07315 |
SignaLinki | P07315 |
SIGNORi | P07315 |
Names & Taxonomyi
Protein namesi | Recommended name: Gamma-crystallin CAlternative name(s): Gamma-C-crystallin Gamma-crystallin 2-1 Gamma-crystallin 3 |
Gene namesi | Name:CRYGC Synonyms:CRYG3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2410, CRYGC |
MIMi | 123680, gene |
neXtProti | NX_P07315 |
VEuPathDBi | HostDB:ENSG00000163254 |
Subcellular locationi
Pathology & Biotechi
Involvement in diseasei
Cataract 2, multiple types (CTRCT2)10 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021142 | 5 | T → P in CTRCT2; reduces protein-protein interactions in vivo. 3 PublicationsCorresponds to variant dbSNP:rs104893618EnsemblClinVar. | 1 | |
Natural variantiVAR_084798 | 78 | S → F in CTRCT2; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_067212 | 129 | G → C in CTRCT2. 1 PublicationCorresponds to variant dbSNP:rs137853924EnsemblClinVar. | 1 | |
Natural variantiVAR_084799 | 144 – 174 | Missing in CTRCT2; unknown pathological significance. 1 PublicationAdd BLAST | 31 | |
Natural variantiVAR_021144 | 168 | R → W in CTRCT2; congenital lamellar cataract; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs28931604EnsemblClinVar. | 1 |
Keywords - Diseasei
Cataract, Disease variantOrganism-specific databases
DisGeNETi | 1420 |
MalaCardsi | CRYGC |
MIMi | 604307, phenotype |
OpenTargetsi | ENSG00000163254 |
Orphaneti | 1377, Cataract-microcornea syndrome 441452, Early-onset lamellar cataract 98991, Early-onset nuclear cataract 98984, Pulverulent cataract |
PharmGKBi | PA26917 |
Miscellaneous databases
Pharosi | P07315, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4296285 |
Genetic variation databases
BioMutai | CRYGC |
DMDMi | 117464 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000057587 | 2 – 174 | Gamma-crystallin CAdd BLAST | 173 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 23 | S-methylcysteine1 Publication | 1 |
Keywords - PTMi
MethylationProteomic databases
MassIVEi | P07315 |
PaxDbi | P07315 |
PeptideAtlasi | P07315 |
PRIDEi | P07315 |
ProteomicsDBi | 51985 |
PTM databases
iPTMneti | P07315 |
PhosphoSitePlusi | P07315 |
Expressioni
Gene expression databases
Bgeei | ENSG00000163254, Expressed in tendon and 33 other tissues |
ExpressionAtlasi | P07315, baseline and differential |
Genevisiblei | P07315, HS |
Organism-specific databases
HPAi | ENSG00000163254, Tissue enriched (testis) |
Interactioni
Subunit structurei
Monomer.
By similarityBinary interactionsi
P07315
With | #Exp. | IntAct |
---|---|---|
CRYAA [P02489] | 3 | EBI-6875941,EBI-6875961 |
CRYAB [P02511] | 3 | EBI-6875941,EBI-739060 |
TRIM7 [Q9C029] | 3 | EBI-6875941,EBI-2813981 |
Protein-protein interaction databases
BioGRIDi | 107810, 13 interactors |
IntActi | P07315, 6 interactors |
MINTi | P07315 |
STRINGi | 9606.ENSP00000282141 |
Miscellaneous databases
RNActi | P07315, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P07315 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 2 – 40 | Beta/gamma crystallin 'Greek key' 1PROSITE-ProRule annotationAdd BLAST | 39 | |
Domaini | 41 – 83 | Beta/gamma crystallin 'Greek key' 2PROSITE-ProRule annotationAdd BLAST | 43 | |
Domaini | 88 – 128 | Beta/gamma crystallin 'Greek key' 3PROSITE-ProRule annotationAdd BLAST | 41 | |
Domaini | 129 – 171 | Beta/gamma crystallin 'Greek key' 4PROSITE-ProRule annotationAdd BLAST | 43 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 84 – 87 | Connecting peptide | 4 |
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
RepeatPhylogenomic databases
eggNOGi | ENOG502RXJY, Eukaryota |
GeneTreei | ENSGT00940000159232 |
HOGENOMi | CLU_081883_1_1_1 |
InParanoidi | P07315 |
OMAi | YEMPNYL |
OrthoDBi | 1220704at2759 |
PhylomeDBi | P07315 |
Family and domain databases
InterProi | View protein in InterPro IPR001064, Beta/gamma_crystallin IPR011024, G_crystallin-like |
Pfami | View protein in Pfam PF00030, Crystall, 2 hits |
PRINTSi | PR01367, BGCRYSTALLIN |
SMARTi | View protein in SMART SM00247, XTALbg, 2 hits |
SUPFAMi | SSF49695, SSF49695, 1 hit |
PROSITEi | View protein in PROSITE PS50915, CRYSTALLIN_BETA_GAMMA, 4 hits |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P07315-1 [UniParc]FASTAAdd to basket
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
Mass spectrometryi
Molecular mass is 20747±0.2 Da. Determined by ESI. 1 Publication
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021142 | 5 | T → P in CTRCT2; reduces protein-protein interactions in vivo. 3 PublicationsCorresponds to variant dbSNP:rs104893618EnsemblClinVar. | 1 | |
Natural variantiVAR_038432 | 6 | F → L. Corresponds to variant dbSNP:rs2242072Ensembl. | 1 | |
Natural variantiVAR_021143 | 48 | R → H3 PublicationsCorresponds to variant dbSNP:rs61751949EnsemblClinVar. | 1 | |
Natural variantiVAR_084798 | 78 | S → F in CTRCT2; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_067212 | 129 | G → C in CTRCT2. 1 PublicationCorresponds to variant dbSNP:rs137853924EnsemblClinVar. | 1 | |
Natural variantiVAR_084799 | 144 – 174 | Missing in CTRCT2; unknown pathological significance. 1 PublicationAdd BLAST | 31 | |
Natural variantiVAR_021144 | 168 | R → 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 |
CCDSi | CCDS2379.1 |
PIRi | B24520, CYHUG2 |
RefSeqi | NP_066269.1, NM_020989.3 XP_011508964.1, XM_011510662.1 |
Genome annotation databases
Ensembli | ENST00000282141; ENSP00000282141; ENSG00000163254 ENST00000646204; ENSP00000496418; ENSG00000285011 |
GeneIDi | 1420 |
KEGGi | hsa:1420 |
MANE-Selecti | ENST00000282141.4; ENSP00000282141.3; NM_020989.4; NP_066269.1 |
UCSCi | uc002vco.4, human |
Similar proteinsi
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 |
CCDSi | CCDS2379.1 |
PIRi | B24520, CYHUG2 |
RefSeqi | NP_066269.1, NM_020989.3 XP_011508964.1, XM_011510662.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2NBR | NMR | - | A | 2-174 | [»] | |
SMRi | P07315 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107810, 13 interactors |
IntActi | P07315, 6 interactors |
MINTi | P07315 |
STRINGi | 9606.ENSP00000282141 |
Chemistry databases
ChEMBLi | CHEMBL4296285 |
PTM databases
iPTMneti | P07315 |
PhosphoSitePlusi | P07315 |
Genetic variation databases
BioMutai | CRYGC |
DMDMi | 117464 |
Proteomic databases
MassIVEi | P07315 |
PaxDbi | P07315 |
PeptideAtlasi | P07315 |
PRIDEi | P07315 |
ProteomicsDBi | 51985 |
Protocols and materials databases
Antibodypediai | 34194, 167 antibodies from 27 providers |
DNASUi | 1420 |
Genome annotation databases
Ensembli | ENST00000282141; ENSP00000282141; ENSG00000163254 ENST00000646204; ENSP00000496418; ENSG00000285011 |
GeneIDi | 1420 |
KEGGi | hsa:1420 |
MANE-Selecti | ENST00000282141.4; ENSP00000282141.3; NM_020989.4; NP_066269.1 |
UCSCi | uc002vco.4, human |
Organism-specific databases
CTDi | 1420 |
DisGeNETi | 1420 |
GeneCardsi | CRYGC |
HGNCi | HGNC:2410, CRYGC |
HPAi | ENSG00000163254, Tissue enriched (testis) |
MalaCardsi | CRYGC |
MIMi | 123680, gene 604307, phenotype |
neXtProti | NX_P07315 |
OpenTargetsi | ENSG00000163254 |
Orphaneti | 1377, Cataract-microcornea syndrome 441452, Early-onset lamellar cataract 98991, Early-onset nuclear cataract 98984, Pulverulent cataract |
PharmGKBi | PA26917 |
VEuPathDBi | HostDB:ENSG00000163254 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RXJY, Eukaryota |
GeneTreei | ENSGT00940000159232 |
HOGENOMi | CLU_081883_1_1_1 |
InParanoidi | P07315 |
OMAi | YEMPNYL |
OrthoDBi | 1220704at2759 |
PhylomeDBi | P07315 |
Enzyme and pathway databases
PathwayCommonsi | P07315 |
SignaLinki | P07315 |
SIGNORi | P07315 |
Miscellaneous databases
BioGRID-ORCSi | 1420, 8 hits in 1039 CRISPR screens |
GeneWikii | CRYGC |
GenomeRNAii | 1420 |
Pharosi | P07315, Tbio |
PROi | PR:P07315 |
RNActi | P07315, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163254, Expressed in tendon and 33 other tissues |
ExpressionAtlasi | P07315, baseline and differential |
Genevisiblei | P07315, HS |
Family and domain databases
InterProi | View protein in InterPro IPR001064, Beta/gamma_crystallin IPR011024, G_crystallin-like |
Pfami | View protein in Pfam PF00030, Crystall, 2 hits |
PRINTSi | PR01367, BGCRYSTALLIN |
SMARTi | View protein in SMART SM00247, XTALbg, 2 hits |
SUPFAMi | SSF49695, SSF49695, 1 hit |
PROSITEi | View protein in PROSITE PS50915, CRYSTALLIN_BETA_GAMMA, 4 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | CRGC_HUMAN | |
Accessioni | P07315Primary (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: | February 23, 2022 | |
This is version 196 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families