Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein CLEC16A

Gene

CLEC16A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PARK2 pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PARK2 pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PARK2. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Autophagy

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CLEC16ACurated
Alternative name(s):
C-type lectin domain family 16 member AImported
Gene namesi
Name:CLEC16AImported
Synonyms:KIAA0350
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:29013. CLEC16A.

Subcellular locationi

  • Endosome membrane By similarity; Peripheral membrane protein
  • Lysosome membrane By similarity; Peripheral membrane protein

  • Note: Associates with the endolysosome membrane.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endosome, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Diabetes mellitus, insulin-dependent (IDDM)2 Publications
Disease susceptibility is associated with variations 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).2 Publications
Disease descriptionA 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.
See also OMIM:222100

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

DisGeNETi23274.
MIMi222100. phenotype.
OpenTargetsiENSG00000038532.
PharmGKBiPA162382340.

Polymorphism and mutation databases

BioMutaiCLEC16A.
DMDMi125950459.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002744761 – 1053Protein CLEC16AAdd BLAST1053

Proteomic databases

EPDiQ2KHT3.
MaxQBiQ2KHT3.
PaxDbiQ2KHT3.
PeptideAtlasiQ2KHT3.
PRIDEiQ2KHT3.

PTM databases

iPTMnetiQ2KHT3.
PhosphoSitePlusiQ2KHT3.

Expressioni

Tissue specificityi

Almost exclusively expressed in immune cells, including dendritic cells, B-lymphocytes and natural killer cells.1 Publication

Gene expression databases

BgeeiENSG00000038532.
CleanExiHS_CLEC16A.
ExpressionAtlasiQ2KHT3. baseline and differential.
GenevisibleiQ2KHT3. HS.

Organism-specific databases

HPAiHPA035814.
HPA035815.
HPA061385.

Interactioni

Subunit structurei

Interacts with RNF41/NRDP1.By similarity

Protein-protein interaction databases

BioGridi116875. 3 interactors.
IntActiQ2KHT3. 3 interactors.
STRINGi9606.ENSP00000387122.

Structurei

3D structure databases

ProteinModelPortaliQ2KHT3.
SMRiQ2KHT3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi892 – 933Ser-richAdd BLAST42

Sequence similaritiesi

Belongs to the CLEC16A/gop-1 family.Curated

Phylogenomic databases

eggNOGiKOG2219. Eukaryota.
ENOG410Y0P3. LUCA.
GeneTreeiENSGT00390000013826.
HOGENOMiHOG000000678.
HOVERGENiHBG096072.
InParanoidiQ2KHT3.
KOiK19513.
OMAiAQPDGKI.
OrthoDBiEOG091G02BD.
PhylomeDBiQ2KHT3.
TreeFamiTF314293.

Family and domain databases

InterProiIPR019155. Uncharacterised_FPL.
[Graphical view]
PfamiPF09758. FPL. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q2KHT3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MFGRSRSWVG GGHGKTSRNI HSLDHLKYLY HVLTKNTTVT EQNRNLLVET
60 70 80 90 100
IRSITEILIW GDQNDSSVFD FFLEKNMFVF FLNILRQKSG RYVCVQLLQT
110 120 130 140 150
LNILFENISH ETSLYYLLSN NYVNSIIVHK FDFSDEEIMA YYISFLKTLS
160 170 180 190 200
LKLNNHTVHF FYNEHTNDFA LYTEAIKFFN HPESMVRIAV RTITLNVYKV
210 220 230 240 250
SLDNQAMLHY IRDKTAVPYF SNLVWFIGSH VIELDDCVQT DEEHRNRGKL
260 270 280 290 300
SDLVAEHLDH LHYLNDILII NCEFLNDVLT DHLLNRLFLP LYVYSLENQD
310 320 330 340 350
KGGERPKISL PVSLYLLSQV FLIIHHAPLV NSLAEVILNG DLSEMYAKTE
360 370 380 390 400
QDIQRSSAKP SIRCFIKPTE TLERSLEMNK HKGKRRVQKR PNYKNVGEEE
410 420 430 440 450
DEEKGPTEDA QEDAEKAKGT EGGSKGIKTS GESEEIEMVI MERSKLSELA
460 470 480 490 500
ASTSVQEQNT TDEEKSAAAT CSESTQWSRP FLDMVYHALD SPDDDYHALF
510 520 530 540 550
VLCLLYAMSH NKGMDPEKLE RIQLPVPNAA EKTTYNHPLA ERLIRIMNNA
560 570 580 590 600
AQPDGKIRLA TLELSCLLLK QQVLMSAGCI MKDVHLACLE GAREESVHLV
610 620 630 640 650
RHFYKGEDIF LDMFEDEYRS MTMKPMNVEY LMMDASILLP PTGTPLTGID
660 670 680 690 700
FVKRLPCGDV EKTRRAIRVF FMLRSLSLQL RGEPETQLPL TREEDLIKTD
710 720 730 740 750
DVLDLNNSDL IACTVITKDG GMVQRFLAVD IYQMSLVEPD VSRLGWGVVK
760 770 780 790 800
FAGLLQDMQV TGVEDDSRAL NITIHKPASS PHSKPFPILQ ATFIFSDHIR
810 820 830 840 850
CIIAKQRLAK GRIQARRMKM QRIAALLDLP IQPTTEVLGF GLGSSTSTQH
860 870 880 890 900
LPFRFYDQGR RGSSDPTVQR SVFASVDKVP GFAVAQCINQ HSSPSLSSQS
910 920 930 940 950
PPSASGSPSG SGSTSHCDSG GTSSSSTPST AQSPADAPMS PELPKPHLPD
960 970 980 990 1000
QLVIVNETEA DSKPSKNVAR SAAVETASLS PSLVPARQPT ISLLCEDTAD
1010 1020 1030 1040 1050
TLSVESLTLV PPVDPHSLRS LTGMPPLSTP AAACTEPVGE EAACAEPVGT

AED
Length:1,053
Mass (Da):117,715
Last modified:February 6, 2007 - v2
Checksum:i89DE7C0AE228B0D9
GO
Isoform 2 (identifier: Q2KHT3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     201-202: Missing.
     419-434: Missing.
     882-924: FAVAQCINQH...SHCDSGGTSS → EPAPRPAPQL...KPRRLAAPAS
     925-1053: Missing.

Show »
Length:906
Mass (Da):103,547
Checksum:i072711CE4700B2A1
GO
Isoform 3 (identifier: Q2KHT3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-913: Missing.
     914-935: TSHCDSGGTSSSSTPSTAQSPA → MAATGFSAPNGSCHGTSRTVNS

Note: No experimental confirmation available.
Show »
Length:140
Mass (Da):14,283
Checksum:i7623A0791B10A774
GO

Sequence cautioni

The sequence BAA20807 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030288906G → E.Corresponds to variant rs2241100dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0227451 – 913Missing in isoform 3. 1 PublicationAdd BLAST913
Alternative sequenceiVSP_022746201 – 202Missing in isoform 2. 1 Publication2
Alternative sequenceiVSP_022747419 – 434Missing in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_022748882 – 924FAVAQ…GGTSS → EPAPRPAPQLVHHGGRSRSF SLWSLCELPFLSQKPRRLAA PAS in isoform 2. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_022749914 – 935TSHCD…AQSPA → MAATGFSAPNGSCHGTSRTV NS in isoform 3. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_022750925 – 1053Missing in isoform 2. 1 PublicationAdd BLAST129

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002348 mRNA. Translation: BAA20807.3. Different initiation.
AK126771 mRNA. No translation available.
BC112897 mRNA. Translation: AAI12898.1.
CCDSiCCDS45409.1. [Q2KHT3-1]
CCDS58423.1. [Q2KHT3-2]
RefSeqiNP_001230332.1. NM_001243403.1. [Q2KHT3-2]
NP_056041.1. NM_015226.2. [Q2KHT3-1]
UniGeneiHs.35490.

Genome annotation databases

EnsembliENST00000409552; ENSP00000386495; ENSG00000038532. [Q2KHT3-2]
ENST00000409790; ENSP00000387122; ENSG00000038532. [Q2KHT3-1]
GeneIDi23274.
KEGGihsa:23274.
UCSCiuc002dan.5. human. [Q2KHT3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002348 mRNA. Translation: BAA20807.3. Different initiation.
AK126771 mRNA. No translation available.
BC112897 mRNA. Translation: AAI12898.1.
CCDSiCCDS45409.1. [Q2KHT3-1]
CCDS58423.1. [Q2KHT3-2]
RefSeqiNP_001230332.1. NM_001243403.1. [Q2KHT3-2]
NP_056041.1. NM_015226.2. [Q2KHT3-1]
UniGeneiHs.35490.

3D structure databases

ProteinModelPortaliQ2KHT3.
SMRiQ2KHT3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116875. 3 interactors.
IntActiQ2KHT3. 3 interactors.
STRINGi9606.ENSP00000387122.

PTM databases

iPTMnetiQ2KHT3.
PhosphoSitePlusiQ2KHT3.

Polymorphism and mutation databases

BioMutaiCLEC16A.
DMDMi125950459.

Proteomic databases

EPDiQ2KHT3.
MaxQBiQ2KHT3.
PaxDbiQ2KHT3.
PeptideAtlasiQ2KHT3.
PRIDEiQ2KHT3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409552; ENSP00000386495; ENSG00000038532. [Q2KHT3-2]
ENST00000409790; ENSP00000387122; ENSG00000038532. [Q2KHT3-1]
GeneIDi23274.
KEGGihsa:23274.
UCSCiuc002dan.5. human. [Q2KHT3-1]

Organism-specific databases

CTDi23274.
DisGeNETi23274.
GeneCardsiCLEC16A.
HGNCiHGNC:29013. CLEC16A.
HPAiHPA035814.
HPA035815.
HPA061385.
MIMi222100. phenotype.
611303. gene.
neXtProtiNX_Q2KHT3.
OpenTargetsiENSG00000038532.
PharmGKBiPA162382340.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2219. Eukaryota.
ENOG410Y0P3. LUCA.
GeneTreeiENSGT00390000013826.
HOGENOMiHOG000000678.
HOVERGENiHBG096072.
InParanoidiQ2KHT3.
KOiK19513.
OMAiAQPDGKI.
OrthoDBiEOG091G02BD.
PhylomeDBiQ2KHT3.
TreeFamiTF314293.

Miscellaneous databases

ChiTaRSiCLEC16A. human.
GeneWikiiCLEC16A.
GenomeRNAii23274.
PROiQ2KHT3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000038532.
CleanExiHS_CLEC16A.
ExpressionAtlasiQ2KHT3. baseline and differential.
GenevisibleiQ2KHT3. HS.

Family and domain databases

InterProiIPR019155. Uncharacterised_FPL.
[Graphical view]
PfamiPF09758. FPL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCL16A_HUMAN
AccessioniPrimary (citable) accession number: Q2KHT3
Secondary accession number(s): O15058, Q6ZTB2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: November 2, 2016
This is version 84 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

Despite its name, does not contain a C-type lectin domain.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.