P07315 (CRGC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gamma-crystallin C

Alternative name(s):
Gamma-C-crystallin
Gamma-crystallin 2-1
Gamma-crystallin 3

Gene names

Name:	CRYGC
Synonyms:	CRYG3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	174 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Crystallins are the dominant structural components of the vertebrate eye lens.
Subunit structure	Monomer By similarity.
Domain	Has a two-domain beta-structure, folded into four very similar Greek key motifs.
Involvement in disease	Defects in CRYGC are a cause of cataract autosomal dominant (ADC) [MIM:604219]. Cataract is an 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Cataract is the most common treatable cause of visual disability in childhood. Ref.14 Ref.15 Defects in CRYGC are a cause of cataract Coppock-like (CCL) [MIM:604307]. 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. Ref.12 Ref.16
Sequence similarities	Belongs to the beta/gamma-crystallin family. Contains 4 beta/gamma crystallin 'Greek key' domains.
Mass spectrometry	Molecular mass is 20747±0.2 Da from positions 2 - 174. Determined by ESI. Ref.10

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Disease	Cataract Disease mutation
Domain	Repeat
Molecular function	Eye lens protein
PTM	Methylation Oxidation Phosphoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	visual perception Inferred from mutant phenotype Ref.15. Source: UniProtKB
Cellular component	cytoplasm Inferred from direct assay. Source: UniProtKB nucleus Inferred from direct assay. Source: UniProtKB
Molecular function	protein binding Inferred from physical interaction. Source: UniProtKB structural constituent of eye lens Non-traceable author statement Ref.11. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed Ref.8

Chain

2 – 174

173

Gamma-crystallin C

PRO_0000057587

Regions

Domain

2 – 40

39

Beta/gamma crystallin 'Greek key' 1

Domain

41 – 83

43

Beta/gamma crystallin 'Greek key' 2

Domain

88 – 128

41

Beta/gamma crystallin 'Greek key' 3

Domain

129 – 171

43

Beta/gamma crystallin 'Greek key' 4

Region

84 – 87

4

Connecting peptide

Sites

Site

56

1

Susceptible to oxidation

Site

69

1

Susceptible to oxidation

Site

70

1

Susceptible to oxidation

Site

131

1

Susceptible to oxidation

Amino acid modifications

Modified residue

23

1

S-methylcysteine Ref.10

Modified residue

63

1

Phosphotyrosine Ref.9

Modified residue

66

1

Phosphotyrosine Ref.9

Natural variations

Natural variant

5

1

T → P in CCL; interactions between Pro-5 mutants themselves were unchanged versus wild-type CRYGC indicating that homogeneous interaction sites or domains differ from those used in heterogeneous interactions. Ref.12 Ref.16

VAR_021142

Natural variant

6

1

F → L.
Corresponds to variant rs2242072 [ dbSNP | Ensembl ].

VAR_038432

Natural variant

48

1

R → H. Ref.15

VAR_021143

Natural variant

169

1

R → W in ADC; congenital lamellar cataract. Ref.15

VAR_021144

Secondary structure

1

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174

Helix Strand Turn

Details...

Beta strand

2 – 8

7

Helix

9 – 11

3

Beta strand

12 – 20

9

Turn

26 – 28

3

Beta strand

33 – 47

15

Turn

48 – 50

3

Beta strand

51 – 57

7

Beta strand

59 – 65

7

Helix

66 – 68

3

Beta strand

71 – 73

3

Beta strand

77 – 81

5

Beta strand

88 – 94

7

Turn

95 – 97

3

Beta strand

98 – 101

4

Helix

111 – 115

5

Beta strand

122 – 128

7

Beta strand

130 – 135

6

Turn

136 – 138

3

Beta strand

139 – 145

7

Beta strand

147 – 150

4

Helix

153 – 156

4

Beta strand

165 – 168

4

Sequences

	Sequence		Length	Mass (Da)
	P07315 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: B01DC167171A7668	FASTA	174	20,879
	10 20 30 40 50 60 MGKITFYEDR AFQGRSYETT TDCPNLQPYF SRCNSIRVES GCWMLYERPN YQGQQYLLRR 70 80 90 100 110 120 GEYPDYQQWM GLSDSIRSCC LIPQTVSHRL RLYEREDHKG LMMELSEDCP SIQDRFHLSE 130 140 150 160 170 IRSLHVLEGC WVLYELPNYR GRQYLLRPQE YRRCQDWGAM DAKAGSLRRV VDLY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Two human gamma-crystallin genes are linked and riddled with Alu-repeats." den Dunnen J.T., Moormann R.J.M., Cremers F.P.M., Schoenmakers J.G.G. Gene 38:197-204(1985) [PubMed: 4065573] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Structural and evolutionary relationships among five members of the human gamma-crystallin gene family." Meakin S.O., Breitman M.L., Tsui L.-C. Mol. Cell. Biol. 5:1408-1414(1985) [PubMed: 4033658] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"Nucleotide sequence of the rat gamma-crystallin gene region and comparison with an orthologous human region." den Dunnen J.T., van Neck J.W., Cremers F.P.M., Lubsen N.H., Schoenmakers J.G.G. Gene 78:201-213(1989) [PubMed: 2777080] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"Cloning and expression of human lens crystallins." Petrash J.M., Mathur S., Manoharan M., Andley U.P. Invest. Ophthalmol. Vis. Sci. 36:S882-S882(1995) Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Lens.
[5]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]	"Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens." Lampi K.J., Ma Z., Shih M., Shearer T.R., Smith J.B., Smith D.L., David L.L. J. Biol. Chem. 272:2268-2275(1997) [PubMed: 8999933] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-26.
[9]	"Shotgun identification of protein modifications from protein complexes and lens tissue." MacCoss M.J., McDonald W.H., Saraf A., Sadygov R., Clark J.M., Tasto J.J., Gould K.L., Wolters D., Washburn M., Weiss A., Clark J.I., Yates J.R. III Proc. Natl. Acad. Sci. U.S.A. 99:7900-7905(2002) [PubMed: 12060738] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-63 AND TYR-66, SUSCEPTIBILITY TO OXIDATION, MASS SPECTROMETRY. Tissue: Lens.
[10]	"Methylation and carbamylation of human gamma-crystallins." Lapko V.N., Smith D.L., Smith J.B. Protein Sci. 12:1762-1774(2003) [PubMed: 12876325] [Abstract] Cited for: METHYLATION AT CYS-23, MASS SPECTROMETRY.
[11]	"Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins." Salim A., Zaidi Z.H. Biochem. Biophys. Res. Commun. 300:624-630(2003) [PubMed: 12507494] [Abstract] Cited for: 3D-STRUCTURE MODELING.
[12]	"The gamma-crystallins and human cataracts: a puzzle made clearer." Heon E., Priston M., Schorderet D.F., Billingsley G.D., Girard P.O., Lubsen N., Munier F.L. Am. J. Hum. Genet. 65:1261-1267(1999) [PubMed: 10521291] [Abstract] Cited for: VARIANT CCL PRO-5.
[13]	Erratum Heon E., Priston M., Schorderet D.F., Billingsley G.D., Girard P.O., Lubsen N., Munier F.L. Am. J. Hum. Genet. 66:753-753(2000)
[14]	"A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract." Ren Z., Li A., Shastry B.S., Padma T., Ayyagari R., Scott M.H., Parks M.M., Kaiser-Kupfer M.I., Hejtmancik J.F. Hum. Genet. 106:531-537(2000) [PubMed: 10914683] [Abstract] Cited for: INVOLVEMENT IN ADC.
[15]	"Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts." Santhiya S.T., Shyam Manohar M., Rawlley D., Vijayalakshmi P., Namperumalsamy P., Gopinath P.M., Loester J., Graw J. J. Med. Genet. 39:352-358(2002) [PubMed: 12011157] [Abstract] Cited for: VARIANT ADC TRP-169, VARIANT HIS-48.
[16]	"Alteration of protein-protein interactions of congenital cataract crystallin mutants." Fu L., Liang J.J.-N. Invest. Ophthalmol. Vis. Sci. 44:1155-1159(2003) [PubMed: 12601044] [Abstract] Cited for: CHARACTERIZATION OF VARIANT CCL PRO-5.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00220282.

PIR

CYHUG2. B24520.

RefSeq

NP_066269.1. NM_020989.3.

UniGene

Hs.72910.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1LFE	model	-	A	1-174	[»]

ProteinModelPortal

P07315.

SMR

P07315. Positions 2-174.

ModBase

Search...

Protein-protein interaction databases

MINT

MINT-221050.

STRING

P07315.

PTM databases

PhosphoSite

P07315.

Polymorphism databases

DMDM

117464.

Proteomic databases

PeptideAtlas

P07315.

PRIDE

P07315.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000282141; ENSP00000282141; ENSG00000163254.

GeneID

1420.

KEGG

hsa:1420.

UCSC

uc002vco.2. human.

Organism-specific databases

CTD

1420.

GeneCards

GC02M208992.

H-InvDB

HIX0029985.

HGNC

HGNC:2410. CRYGC.

MIM

123680. gene+phenotype.
604219. phenotype.
604307. phenotype.

neXtProt

NX_P07315.

Orphanet

98986. Cataract, Coppock-like.
98984. Pulverulent cataract.
98995. Zonular cataract.

PharmGKB

PA26917.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG06709.

GeneTree

ENSGT00560000076658.

HOGENOM

HBG715438.

HOVERGEN

HBG003364.

InParanoid

P07315.

OMA

EDCPSIQ.

OrthoDB

EOG4K9BD7.

PhylomeDB

P07315.

Gene expression databases

ArrayExpress

P07315.

Bgee

P07315.

CleanEx

HS_CRYGC.

Genevestigator

P07315.

GermOnline

ENSG00000163254. Homo sapiens.

Family and domain databases

InterPro

IPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
[Graphical view]

Gene3D

G3DSA:2.60.20.10. Crystallin. 2 hits.

Pfam

PF00030. Crystall. 2 hits.
[Graphical view]

PRINTS

PR01367. BGCRYSTALLIN.

SMART

SM00247. XTALbg. 2 hits.
[Graphical view]

SUPFAM

SSF49695. G_crystallin_SF. 1 hit.

PROSITE

PS50915. CRYSTALLIN_BETA_GAMMA. 4 hits.
[Graphical view]

ProtoNet

Search...

Other

NextBio

5807.

SOURCE

Search...

Entry information

Entry name

CRGC_HUMAN

Accession

Primary (citable) accession number: P07315
Secondary accession number(s): Q53R50

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1988
Last sequence update:	January 23, 2007
Last modified:	January 25, 2012
This is version 122 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.