RBCC Red Blood Cell Collection

DNJC5_HUMAN

Source: hRBCD ; ID: IPI00023780
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: DNAJC5 , CSP
Protein names and data: DNJC5_HUMAN , DnaJ homolog subfamily C member 5 , Cysteine string protein; CSP Lenght: 198 a.a.
Mass: 22149 Da
fasta formatted sequence
Function: May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity).
Disease: ( OMIM: 162350 611203 ) Ceroid lipofuscinosis, neuronal, 4B (CLN4B) [MIM:162350]: An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Membrane; Lipid-anchor (By similarity). Melanosome. Cell membrane. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.

Genetic variants

115 - 115 L -> R (in CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization). VAR_066555
116 - 116 Missing (in CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization). VAR_066556

Database cross-references

UniProt: Q9H3Z4
Ensembl: ENST00000360864
Ensembl: ENST00000369911
Ensembl: ENST00000470551
MIM: 162350
MIM: 611203
neXtProt: NX_Q9H3Z4
Antibodypedia: Q9H3Z4 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2