P02511

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	CRYAB_HUMAN; P02511;
Entrez ID	1410
GenBank Protein ID	NM_001289807.1; NM_001289808.1; NM_001885.2; XM_011542608.1;
GenBank Nucleotide ID	NP_001276736.1; NP_001276737.1; NP_001876.1; XP_011540910.1;
Protein Name	Alpha-crystallin B chain (Alpha(B)-crystallin) (Heat shock protein beta-5) (HspB5) (Renal carcinoma antigen NY-REN-27) (Rosenthal fiber component)
Gene Name	CRYAB; CRYA2; HSPB5
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. Functional Description May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.
Sequence (Fasta)	MDIAIHHPWI RRPFFPFHSP SRLFDQFFGE HLLESDLFPT STSLSPFYLR PPSFLRAPSW 60 FDTGLSEMRL EKDRFSVNLD VKHFSPEELK VKVLGDVIEV HGKHEERQDE HGFISREFHR 120 KYRIPADVDP LTITSSLSSD GVLTVNGPRK QVSGPERTIP ITREEKPAVT AAPKK 176 Fasta Sequence >P02511\|CRYAB; CRYA2; HSPB5\|Homo sapiens (Human) MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSWFDTGLSEMRLEKDRFSVNLDVKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRKQVSGPERTIPITREEKPAVTAAPKK

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Down syndrome		U	S45	19272359
1	[Reference]: Upregulation of phosphorylated alphaB-crystallin in the brain of children and young adults with Down syndrome.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 14) (view all)	MESH:C563848 ; Alpha-B Crystallinopathy MESH:D002292 ; Carcinoma, Renal Cell MESH:D002294 ; Carcinoma, Squamous Cell OMIM:615184 ; CARDIOMYOPATHY, DILATED, 1II MESH:D002386 ; Cataract OMIM:613763 ; CATARACT 16, MULTIPLE TYPES MESH:D003110 ; Colonic Neoplasms MESH:D004938 ; Esophageal Neoplasms MESH:D008106 ; Liver Cirrhosis, Experimental MESH:D009062 ; Mouth Neoplasms OMIM:613869 ; MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED MESH:D019636 ; Neurodegenerative Diseases MESH:D011471 ; Prostatic Neoplasms MESH:D014062 ; Tongue Neoplasms
DisGeNet (Curated) (count: 53) (view all)	C0003578; Apnea C0007134; Renal Cell Carcinoma C0007137; Squamous cell carcinoma C0007193; Cardiomyopathy, Dilated C0007194; Hypertrophic Cardiomyopathy C0009375; Colonic Neoplasms C0009917; Contracture C0009918; Contracture of joint C0014859; Esophageal Neoplasms C0023893; Liver Cirrhosis, Experimental C0026266; Mitral Valve Insufficiency C0026640; Mouth Neoplasms C0026837; Muscle Rigidity C0026850; Muscular Dystrophy C0033578; Prostatic Neoplasms C0040411; Tongue Neoplasms C0085684; Foot-drop C0086543; Cataract C0151576; Elevated creatine kinase C0234860; Weak cry C0240479; Neck muscle weakness C0241005; Creatine phosphokinase serum increased C0333068; Flexion contracture C0392557; Nuclear cataract C0427065; Distal muscle weakness C0524851; Neurodegenerative Disorders C0544966; Autophagic vaculoes (finding) C1112705; Nuclear non-senile cataract C1145670; Respiratory Failure C1510497; Lens Opacities C1836057; Muscle fiber splitting C1837317; Alpha-B Crystallinopathy C1837323; Hyporeflexia at ankle joints C1838681; Rapidly progressive C1850191; Posterior polar cataract C1850530; Flexion contractures of joints C1850776; Rapidly progressive disorder C1853562; Adult onset C1854494; Slow progression C1858127; Limb-girdle muscle weakness C1864696; Distal limb muscle weakness due to peripheral neuropathy C1864711; Muscle biopsy shows dystrophic changes C1866141; Foot dorsiflexor weakness C3151236; MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED C3551535; Mitral regurgitation, mild C3554649; CARDIOMYOPATHY, DILATED, 1II C3715165; LEFT VENTRICULAR NONCOMPACTION 10 C3806467; Respiratory insufficiency due to muscle weakness C3808377; CATARACT 16, MULTIPLE TYPES C3809288; LEFT VENTRICULAR NONCOMPACTION 8 C4020899; Autosomal recessive predisposition C4021726; EMG: myopathic abnormalities C4025578; Late-onset proximal muscle weakness
GWASdb (count: 3)	rs14133; Serum metabolites; Null rs14133; Lymphocyte counts; asthma\|leukemia\|lymphoma\|lymphopenia\|cardiovascular system disease rs14133; Heart rate; heart conduction disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 14) (view all)	132 PADVDPLTITSSLSS dbPAF 134 DVDPLTITSSLSSDG dbPAF 135 VDPLTITSSLSSDGV dbPAF 136 DPLTITSSLSSDGVL dbPAF 144 LSSDGVLTVNGPRKQ dbPAF 158 QVSGPERTIPITREE dbPAF 19 RPFFPFHSPSRLFDQ dbPAF 21 FFPFHSPSRLFDQFF dbPAF 43 DLFPTSTSLSPFYLR dbPAF 45 FPTSTSLSPFYLRPP dbPAF 53 PFYLRPPSFLRAPSW dbPAF 59 PSFLRAPSWFDTGLS dbPAF 76 RLEKDRFSVNLDVKH dbPAF 85 NLDVKHFSPEELKVK dbPAF
Acetylation (count: 3)	166 IPITREEKPAVTAAP PLMD 90 HFSPEELKVKVLGDV PLMD 92 SPEELKVKVLGDVIE PLMD
Ubiquitination (count: 2)	82 FSVNLDVKHFSPEEL PLMD 92 SPEELKVKVLGDVIE PLMD
Sumoylation (count: 1)	166 IPITREEKPAVTAAP PLMD
Malonylation (count: 1)	92 SPEELKVKVLGDVIE PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

P02511	P04792	HPRD; DIP; MINT
P02511	P05067	IntAct
P02511	P05198	BioGRID
P02511	P16104	BioGRID