CLN5 | ENSG00000102805 | NCBI 1203

Details for: CLN5

Gene ID: 1203

Symbol: CLN5

Ensembl ID: ENSG00000102805

Description: CLN5 intracellular trafficking protein

Associated with

Bis(monoacylglycero)phosphate synthase activity
(GO:0160121)
Brain development
(GO:0007420)
Cytosol
(GO:0005829)
Endoplasmic reticulum
(GO:0005783)
Extracellular exosome
(GO:0070062)
Glycosylation
(GO:0070085)
Golgi apparatus
(GO:0005794)
Hydrolase activity, acting on glycosyl bonds
(GO:0016798)
Long-chain fatty acyl-coa hydrolase activity
(GO:0052816)
Lysosomal lumen acidification
(GO:0007042)
Lysosomal membrane
(GO:0005765)
Lysosome
(GO:0005764)
Lysosome organization
(GO:0007040)
Mannose binding
(GO:0005537)
Membrane
(GO:0016020)
Neurogenesis
(GO:0022008)
Neuron maturation
(GO:0042551)
Perinuclear region of cytoplasm
(GO:0048471)
Positive regulation of gtp binding
(GO:1904426)
Protein binding
(GO:0005515)
Protein catabolic process
(GO:0030163)
Retrograde transport, endosome to golgi
(GO:0042147)
Signal peptide processing
(GO:0006465)
Vacuolar lumen
(GO:0005775)
Visual perception
(GO:0007601)

Other Information

Proteins

Ceroid-lipofuscinosis neuronal protein 5

Genular Protein ID: 3587328721

Symbol: CLN5_HUMAN

Name: Ceroid-lipofuscinosis neuronal protein 5

UniProtKB Accession Codes:

O75503 B3KQK7

Database IDs:

Citations:

PubMed ID: 9662406

Title: CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

PubMed ID: 9662406

DOI: 10.1038/975

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 11971870

Title: Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.

PubMed ID: 11971870

DOI: 10.1093/hmg/11.8.885

PubMed ID: 22431521

Title: The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting.

PubMed ID: 22431521

DOI: 10.1128/mcb.06726-11

PubMed ID: 15728307

Title: A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

PubMed ID: 15728307

DOI: 10.1212/01.wnl.0000151974.44980.f1

PubMed ID: 16814585

Title: Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

PubMed ID: 16814585

DOI: 10.1016/j.ymgme.2006.04.010

PubMed ID: 17607606

Title: Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

PubMed ID: 17607606

DOI: 10.1055/s-2007-981449

PubMed ID: 19309691

Title: Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

PubMed ID: 19309691

DOI: 10.1002/humu.21010

PubMed ID: 20052765

Title: The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

PubMed ID: 20052765

DOI: 10.1002/humu.21195

PubMed ID: 21990111

Title: Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PubMed ID: 21990111

DOI: 10.1002/humu.21624

PubMed ID: 24038957

Title: Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

PubMed ID: 24038957

DOI: 10.1002/humu.22443

PubMed ID: 24058541

Title: The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.

PubMed ID: 24058541

DOI: 10.1371/journal.pone.0074299

PubMed ID: 26342652

Title: Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.

PubMed ID: 26342652

DOI: 10.1016/j.yexcr.2015.08.021

Sequence Information:

Length: 358
Mass: 41497
Checksum: 07E49D4913685190
Sequence:

MAQEVDTAQG AEMRRGAGAA RGRASWCWAL ALLWLAVVPG WSRVSGIPSR RHWPVPYKRF 
DFRPKPDPYC QAKYTFCPTG SPIPVMEGDD DIEVFRLQAP VWEFKYGDLL GHLKIMHDAI 
GFRSTLTGKN YTMEWYELFQ LGNCTFPHLR PEMDAPFWCN QGAACFFEGI DDVHWKENGT 
LVQVATISGN MFNQMAKWVK QDNETGIYYE TWNVKASPEK GAETWFDSYD CSKFVLRTFN 
KLAEFGAEFK NIETNYTRIF LYSGEPTYLG NETSVFGPTG NKTLGLAIKR FYYPFKPHLP 
TKEFLLSLLQ IFDAVIVHKQ FYLFYNFEYW FLPMKFPFIK ITYEEIPLPI RNKTLSGL

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: CLN5

Associated with

Other Information

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. PubMed ID: 9662406

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and analysis of human chromosome 13. PubMed ID: 15057823

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. PubMed ID: 11971870

The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. PubMed ID: 22431521

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. PubMed ID: 15728307

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. PubMed ID: 16814585

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. PubMed ID: 17607606

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. PubMed ID: 19309691

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. PubMed ID: 20052765

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. PubMed ID: 21990111

Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. PubMed ID: 24038957

The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. PubMed ID: 24058541

Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. PubMed ID: 26342652