DnaJ homolog subfamily C member 5 (DNAJC5)

The protein contains 198 amino acids for an estimated molecular weight of 22149 Da.

 

Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity). (updated: Dec. 20, 2017)

Protein identification was indicated in the following studies:

  1. Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
  2. Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
  3. Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
  4. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  5. D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.

Methods

The following articles were analysed to gather the proteome content of erythrocytes.

The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete
TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry

The compilation of older studies can be retrieved from the Red Blood Cell Collection database.

The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.

No sequence conservation computed yet.

This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt, is predicted to be membranous by TOPCONS.


Interpro domains
Total structural coverage: 100%
Model score: 0
No model available.

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VariantDescription
CLN4B

The reference OMIM entry for this protein is 162350

Ceroid lipofuscinosis, neuronal, 4b, autosomal dominant; cln4b
Kufs disease, autosomal dominant
Ceroid lipofuscinosis, neuronal, parry type

A number sign (#) is used with this entry because neuronal lipofuscinosis-4B (CLN4B) is caused by heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.

DESCRIPTION

Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, 204200). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).

CLINICAL FEATURES

Boehme et al. (1971) reported a family (named Parry) in which 11 individuals over 4 generations were affected with adult-onset neuronal ceroid lipofuscinosis (NCL) in an autosomal dominant pattern of inheritance. The strikingly consistent clinical picture was onset of a cerebellar syndrome at about age 31 years, followed by seizures, myoclonic jerks, and progressive dementia. Pathologic features included neuronal loss and accumulation of lipopigment in remaining neurons. No curvilinear or fingerprint patterns were apparent on ultrastructural examination. Armstrong et al. (1974) studied 3 sibs from Boehme's family and found that all 3 had low peroxidase although only 2 were clinically affected. Brodner and Noh (1976) and Brodner et al. (1976) studied a 24-year-old man from the family reported by Boehme et al. (1971). Cortical biopsy at the time of craniotomy for removal of astrocytoma showed changes indicative of Kufs disease. Velinov et al. (2012) reported follow-up of the Parry family reported by Boehme et al. (1971). The 49-year-old female proband developed psychiatric problems, including irritability and obsessive-compulsive manifestations, in her mid-twenties. EEG showed recurrent burst of 4- to 6-Hz slow waves, and she later developed overt seizures. This was followed by progressive memory loss and gait ataxia. In her forties, she reported progressive visual disturbances, described as 'yellow blinding lights.' Electron microscopic analysis of patient lymphocytes showed no lysosomal inclusions at age 26 years, but changes consistent with granular osmiophilic deposits and curvilinear profiles were observed at age 34. Ferrer et al. (1980) reported a family with autosomal dominant Kufs disease with 6 affected individuals in 2 generations. Disease onset ranged from age 33 to 37 years and was characterized by progressive dementia and involuntary movements of the face and neck. One affected individual had seizures. Brain biopsy showed mild neuronal loss and the accumulation of a granular, membrane-bound product resembling lipofuscin with occasional dense compact rectilinear profiles, but no fingerprint or curvilinear profiles. Goebel and Braak (1989) provided a detailed review of adult-onset NCL. Psychiatric and behavioral changes, mental deterioration, seizures, extrapyramidal symptoms, and ataxia dominate the clinical picture, while ocular symptoms are conspicuously absent. Josephson et al. (2001) reported a family of English ancestry in which 1 ... More on the omim web site

Subscribe to this protein entry history

Feb. 10, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.

Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated

Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated

Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 162350 was added.