CLEC16A
entrez
23274
canonical
uniprot
Q2KHT3
canonical
ensembl
ENSG00000038532
resolver
ensp
ENSP00000386495
resolver
ensp
ENSP00000387122
resolver
ensp
ENSP00000515187
resolver
ensp
ENSP00000574463
resolver
ensp
ENSP00000574464
resolver
ensp
ENSP00000593470
resolver
ensp
ENSP00000793170
resolver
ensp
ENSP00000793171
resolver
ensp
ENSP00000793173
resolver
enst
ENST00000703130
resolver
genesymbol
CLEC16A
resolver
genesymbol_syn
KIAA0350
resolver
hgnc
HGNC:29013
resolver
uniprot
A0A8V8TR67
resolver
uniprot
O15058
resolver
uniprot
Q6ZTB2
resolver
uniprot_entry
A0A8V8TR67_HUMAN
resolver
uniprot_entry
CL16A_HUMAN
resolver
uniprot_sec
O15058
resolver
uniprot_sec
Q6ZTB2
resolver
amino_acid_sequence
MFGRSRSWVGGGHGKTSRNIHSLDHLKYLYHVLTKNTTVTEQNRNLLVETIRSITEILIWGDQNDSSVFDFFLEKNMFVFFLNILRQKSGRYVCVQLLQTLNILFENISHETSLYYLLSNNYVNSIIVHKFDFSDEEIMAYYISFLKTLSLKLNNHTVHFFYNEHTNDFALYTEAIKFFNHPESMVRIAVRTITLNVYKVSLDNQAMLHYIRDKTAVPYFSNLVWFIGSHVIELDDCVQTDEEHRNRGKLSDLVAEHLDHLHYLNDILIINCEFLNDVLTDHLLNRLFLPLYVYSLENQDKGGERPKISLPVSLYLLSQVFLIIHHAPLVNSLAEVILNGDLSEMYAKTEQDIQRSSAKPSIRCFIKPTETLERSLEMNKHKGKRRVQKRPNYKNVGEEEDEEKGPTEDAQEDAEKAKGTEGGSKGIKTSGESEEIEMVIMERSKLSELAASTSVQEQNTTDEEKSAAATCSESTQWSRPFLDMVYHALDSPDDDYHALFVLCLLYAMSHNKGMDPEKLERIQLPVPNAAEKTTYNHPLAERLIRIMNNAAQPDGKIRLATLELSCLLLKQQVLMSAGCIMKDVHLACLEGAREESVHLVRHFYKGEDIFLDMFEDEYRSMTMKPMNVEYLMMDASILLPPTGTPLTGIDFVKRLPCGDVEKTRRAIRVFFMLRSLSLQLRGEPETQLPLTREEDLIKTDDVLDLNNSDLIACTVITKDGGMVQRFLAVDIYQMSLVEPDVSRLGWGVVKFAGLLQDMQVTGVEDDSRALNITIHKPASSPHSKPFPILQATFIFSDHIRCIIAKQRLAKGRIQARRMKMQRIAALLDLPIQPTTEVLGFGLGSSTSTQHLPFRFYDQGRRGSSDPTVQRSVFASVDKVPGFAVAQCINQHSSPSLSSQSPPSASGSPSGSGSTSHCDSGGTSSSSTPSTAQSPADAPMSPELPKPHLPDQLVIVNETEADSKPSKNVARSAAVETASLSPSLVPARQPTISLLCEDTADTLSVESLTLVPPVDPHSLRSLTGMPPLSTPAAACTEPVGEEAACAEPVGTAED
uniprot
proteins
disease_involvement
DISEASE: Type 1 diabetes mellitus (T1D) [MIM:222100]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:17632545, ECO:0000269|PubMed:24949970}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Three common non-coding variants of CLEC16A in strong linkage disequilibrium reach genome-wide significance for association with the disease (PubMed:17632545). The non-coding variant rs12708716 is associated with reduced expression of CLEC16A in beta cells and reduced beta cell function (PubMed:24949970). {ECO:0000269|PubMed:17632545, ECO:0000269|PubMed:24949970}.
uniprot
proteins
function
FUNCTION: Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteasomal degradation, RNF41/NRDP1 which regulates proteasomal degradation of PRKN. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health. {ECO:0000269|PubMed:24949970}.
uniprot
proteins
mass_dalton
117715
uniprot
proteins
protein_family
CLEC16A/gop-1 family
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17632545
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24949970
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
1053
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000250|UniProtKB:Q80U30}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q80U30}. Lysosome membrane {ECO:0000250|UniProtKB:Q80U30}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q80U30}. Note=Associates with the endolysosome membrane. {ECO:0000250|UniProtKB:Q80U30}.
uniprot
proteins