(data stored in ACNUC9435 zone)

HOGENOM: HS12_PE2365

ID   HS12_PE2365                          STANDARD;      PRT;   196 AA.
AC   HS12_PE2365; Q9UJY1; B2R6A6; Q6FIH3; Q9UKS3;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Heat shock protein beta-8; Short=HspB8;AltName:
DE   Full=Alpha-crystallin C chain;AltName: Full=E2-induced gene 1
DE   protein;AltName: Full=Protein kinase H11;AltName: Full=Small stress
DE   protein-like protein HSP22; (HS12.PE2365).
GN   Name=HSPB8; Synonyms=CRYAC, E2IG1, HSP22; ORFNames=PP1629;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS12.PE2365.
CC       Homo sapiens chromosome 12 GRCh37  sequence 1..133841895 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:HSPB8_HUMAN
CC   -!- FUNCTION: Displays temperature-dependent chaperone activity.
CC   -!- SUBUNIT: Monomer. Interacts with HSPB1.
CC   -!- INTERACTION:
CC       Self; NbExp=6; IntAct=EBI-739074, EBI-739074;
CC       P02511:CRYAB; NbExp=2; IntAct=EBI-739074, EBI-739060;
CC       P04792:HSPB1; NbExp=3; IntAct=EBI-739074, EBI-352682;
CC       Q16082:HSPB2; NbExp=3; IntAct=EBI-739074, EBI-739395;
CC       O14558:HSPB6; NbExp=2; IntAct=EBI-739074, EBI-739095;
CC       Q9UBY9:HSPB7; NbExp=5; IntAct=EBI-739074, EBI-739361;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Translocates to
CC       nuclear foci during heat shock.
CC   -!- TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and
CC       heart.
CC   -!- INDUCTION: By 17-beta-estradiol.
CC   -!- DISEASE: Defects in HSPB8 are the cause of distal hereditary motor
CC       neuronopathy type 2A (HMN2A) [MIM:158590]; also known as distal
CC       hereditary motor neuropathy type IIA or spinal Charcot-Marie-Tooth
CC       disease IIA. Distal hereditary motor neuronopathies constitute a
CC       heterogeneous group of neuromuscular disorders caused by selective
CC       impairment of motor neurons in the anterior horn of the spinal
CC       cord, without sensory deficit in the posterior horn. The overall
CC       clinical picture consists of a classical distal muscular atrophy
CC       syndrome in the legs without clinical sensory loss. The disease
CC       starts with weakness and wasting of distal muscles of the anterior
CC       tibial and peroneal compartments of the legs. Later on, weakness
CC       and atrophy may expand to the proximal muscles of the lower limbs
CC       and/or to the distal upper limbs.
CC   -!- DISEASE: Defects in HSPB8 are the cause of Charcot-Marie-Tooth
CC       disease type 2L (CMT2L) [MIM:608673]. CMT2L is an axonal form of
CC       Charcot-Marie-Tooth disease. Axonal CMT neuropathies are
CC       characterized by signs of axonal regeneration in the absence of
CC       obvious myelin alterations, normal or slightly reduced nerve
CC       conduction velocities, and progressive distal muscle weakness and
CC       atrophy.
CC   -!- SIMILARITY: Belongs to the small heat shock protein (HSP20)
CC       family.
CC   -!- CAUTION: Was reported (PubMed:10833516) to have a protein kinase
CC       activity and to act as a Mn(2+)-dependent serine-threonine-
CC       specific protein kinase.
CC   -!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db;
CC       URL="http://www.molgen.ua.ac.be/CMTMutations/";
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPB8";
CC   -!- GENE_FAMILY: HOG000233955 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000152137;ENST00000281938;ENSP00000281938.
DR   EMBL; AF133207; - ;
DR   EMBL; AF191017; - ;
DR   EMBL; AF217987; - ;
DR   EMBL; AF250138; - ;
DR   EMBL; AK312501; - ;
DR   EMBL; AL136936; - ;
DR   EMBL; BC002673; - ;
DR   EMBL; BT006876; - ;
DR   EMBL; CH471054; - ;
DR   EMBL; CR533453; - ;
DR   UniProtKB/Swiss-Prot; Q9UJY1; B2R6A6; Q6FIH3; Q9UKS3; -.
DR   EMBL; AF191017; AAF09481.1; -; mRNA.
DR   EMBL; AF250138; AAF65562.1; -; mRNA.
DR   EMBL; AF133207; AAD55359.1; -; mRNA.
DR   EMBL; AL136936; CAB66870.1; -; mRNA.
DR   EMBL; AF217987; AAG17230.1; -; mRNA.
DR   EMBL; BT006876; AAP35522.1; -; mRNA.
DR   EMBL; CR533453; CAG38484.1; -; mRNA.
DR   EMBL; AK312501; BAG35403.1; -; mRNA.
DR   EMBL; CH471054; EAW98144.1; -; Genomic_DNA.
DR   EMBL; BC002673; AAH02673.1; -; mRNA.
DR   IPI; IPI00007264; -.
DR   RefSeq; NP_055180.1; NM_014365.2.
DR   UniGene; Hs.400095; -.
DR   ProteinModelPortal; Q9UJY1; -.
DR   SMR; Q9UJY1; 94-173.
DR   IntAct; Q9UJY1; 11.
DR   MINT; MINT-1456822; -.
DR   STRING; Q9UJY1; -.
DR   PhosphoSite; Q9UJY1; -.
DR   PRIDE; Q9UJY1; -.
DR   Ensembl; ENST00000281938; ENSP00000281938; ENSG00000152137.
DR   GeneID; 26353; -.
DR   KEGG; hsa:26353; -.
DR   UCSC; uc001txb.1; human.
DR   CTD; 26353; -.
DR   GeneCards; GC12P116624; -.
DR   H-InvDB; HIX0011052; -.
DR   HGNC; HGNC:30171; HSPB8.
DR   HPA; HPA015876; -.
DR   MIM; 158590; phenotype.
DR   MIM; 608014; gene.
DR   MIM; 608673; phenotype.
DR   neXtProt; NX_Q9UJY1; -.
DR   Orphanet; 99945; Autosomal dominant Charcot-Marie-Tooth disease type 2L.
DR   Orphanet; 139525; Distal hereditary motor neuropathy type 2.
DR   PharmGKB; PA134900173; -.
DR   eggNOG; prNOG05247; -.
DR   GeneTree; ENSGT00550000074302; -.
DR   InParanoid; Q9UJY1; -.
DR   OMA; MPFPCHY; -.
DR   OrthoDB; EOG4KKZ43; -.
DR   PhylomeDB; Q9UJY1; -.
DR   NextBio; 48689; -.
DR   ArrayExpress; Q9UJY1; -.
DR   Bgee; Q9UJY1; -.
DR   CleanEx; HS_HSPB8; -.
DR   Genevestigator; Q9UJY1; -.
DR   GermOnline; ENSG00000152137; Homo sapiens.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR   GO; GO:0004674; F:protein serine/threonine kinase activity; NAS:UniProtKB.
DR   GO; GO:0008219; P:cell death; IEA:UniProtKB-KW.
DR   GO; GO:0009408; P:response to heat; IEA:InterPro.
DR   InterPro; IPR001436; Alpha-crystallin/HSP.
DR   InterPro; IPR002068; Hsp20.
DR   InterPro; IPR008978; HSP20-like_chaperone.
DR   Pfam; PF00011; HSP20; 1.
DR   PIRSF; PIRSF036514; Sm_HSP_B1; 1.
DR   PRINTS; PR00299; ACRYSTALLIN.
DR   SUPFAM; SSF49764; HSP20_chap; 1.
DR   PROSITE; PS01031; HSP20; 1.
DR   HOGENOMDNA; HS12.PE2365; -.
KW   ENSG000001521371755old_1320000031; ENSP000002819387901old_1320000031;
KW   AF133207; AF191017; AF217987; AF250138; AK312501; AL136936; BC002673;
KW   CH471054; CR533453;
KW   Chaperone; Charcot-Marie-Tooth disease; Complete proteome; Cytoplasm;
KW   Disease mutation; Neurodegeneration; Neuropathy; Nucleus;
KW   Phosphoprotein; Polymorphism; Reference proteome; Stress response.
SQ   SEQUENCE   196 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MADGQMPFSC HYPSRLRRDP FRDSPLSSRL LDDGFGMDPF PDDLTASWPD WALPRLSSAW
     PGTLRSGMVP RGPTATARFG VPAEGRTPPP FPGEPWKVCV NVHSFKPEEL MVKTKDGYVE
     VSGKHEEKQQ EGGIVSKNFT KKIQLPAEVD PVTVFASLSP EGLLIIEAPQ VPPYSTFGES
     SFNNELPQDS QEVTCT
//

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