Full text data of CLEC16A
CLEC16A
(KIAA0350)
[Confidence: low (only semi-automatic identification from reviews)]
Protein CLEC16A
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Protein CLEC16A
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q2KHT3
ID CL16A_HUMAN Reviewed; 1053 AA.
AC Q2KHT3; O15058; Q6ZTB2;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 06-FEB-2007, sequence version 2.
DT 22-JAN-2014, entry version 60.
DE RecName: Full=Protein CLEC16A;
GN Name=CLEC16A; Synonyms=KIAA0350;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9205841; DOI=10.1093/dnares/4.2.141;
RA Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VII.
RT The complete sequences of 100 new cDNA clones from brain which can
RT code for large proteins in vitro.";
RL DNA Res. 4:141-150(1997).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lymph;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP INVOLVEMENT IN IDDM, AND TISSUE SPECIFICITY.
RX PubMed=17632545; DOI=10.1038/nature06010;
RA Hakonarson H., Grant S.F.A., Bradfield J.P., Marchand L., Kim C.E.,
RA Glessner J.T., Grabs R., Casalunovo T., Taback S.P., Frackelton E.C.,
RA Lawson M.L., Robinson L.J., Skraban R., Lu Y., Chiavacci R.M.,
RA Stanley C.A., Kirsch S.E., Rappaport E.F., Orange J.S., Monos D.S.,
RA Devoto M., Qu H.-Q., Polychronakos C.;
RT "A genome-wide association study identifies KIAA0350 as a type 1
RT diabetes gene.";
RL Nature 448:591-594(2007).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q2KHT3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2KHT3-2; Sequence=VSP_022746, VSP_022747, VSP_022748,
CC VSP_022750;
CC Name=3;
CC IsoId=Q2KHT3-3; Sequence=VSP_022745, VSP_022749;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Almost exclusively expressed in immune cells,
CC including dendritic cells, B-lymphocytes and natural killer cells.
CC -!- DISEASE: Note=Insulin-dependent diabetes mellitus is significantly
CC associated with variation within a 233-kb linkage disequilibrium
CC block on chromosome 16p13 that includes KIAA0350. Three common
CC non-coding variants of KIAA0350 in strong linkage disequilibrium
CC reach genome-wide significance for association with the disease
CC (PubMed:17632545).
CC -!- SIMILARITY: Belongs to the CLEC16A/gop-1 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA20807.3; Type=Erroneous initiation;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AB002348; BAA20807.3; ALT_INIT; mRNA.
DR EMBL; AK126771; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC112897; AAI12898.1; -; mRNA.
DR RefSeq; NP_001230332.1; NM_001243403.1.
DR RefSeq; NP_056041.1; NM_015226.2.
DR UniGene; Hs.35490; -.
DR ProteinModelPortal; Q2KHT3; -.
DR IntAct; Q2KHT3; 1.
DR STRING; 9606.ENSP00000387122; -.
DR PhosphoSite; Q2KHT3; -.
DR DMDM; 125950459; -.
DR PaxDb; Q2KHT3; -.
DR PRIDE; Q2KHT3; -.
DR Ensembl; ENST00000381822; ENSP00000371244; ENSG00000038532.
DR Ensembl; ENST00000409552; ENSP00000386495; ENSG00000038532.
DR Ensembl; ENST00000409790; ENSP00000387122; ENSG00000038532.
DR GeneID; 23274; -.
DR KEGG; hsa:23274; -.
DR UCSC; uc002dao.3; human.
DR CTD; 23274; -.
DR GeneCards; GC16P011038; -.
DR HGNC; HGNC:29013; CLEC16A.
DR HPA; HPA035814; -.
DR HPA; HPA035815; -.
DR MIM; 611303; gene.
DR neXtProt; NX_Q2KHT3; -.
DR PharmGKB; PA162382340; -.
DR eggNOG; NOG252032; -.
DR HOGENOM; HOG000000678; -.
DR HOVERGEN; HBG096072; -.
DR OMA; IFSDHIR; -.
DR OrthoDB; EOG773XF9; -.
DR ChiTaRS; CLEC16A; human.
DR GeneWiki; CLEC16A; -.
DR GenomeRNAi; 23274; -.
DR NextBio; 45050; -.
DR PRO; PR:Q2KHT3; -.
DR ArrayExpress; Q2KHT3; -.
DR Bgee; Q2KHT3; -.
DR CleanEx; HS_CLEC16A; -.
DR Genevestigator; Q2KHT3; -.
DR InterPro; IPR019155; Uncharacterised_FPL.
DR Pfam; PF09758; FPL; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Diabetes mellitus;
KW Polymorphism; Reference proteome.
FT CHAIN 1 1053 Protein CLEC16A.
FT /FTId=PRO_0000274476.
FT COMPBIAS 892 933 Ser-rich.
FT VAR_SEQ 1 913 Missing (in isoform 3).
FT /FTId=VSP_022745.
FT VAR_SEQ 201 202 Missing (in isoform 2).
FT /FTId=VSP_022746.
FT VAR_SEQ 419 434 Missing (in isoform 2).
FT /FTId=VSP_022747.
FT VAR_SEQ 882 924 FAVAQCINQHSSPSLSSQSPPSASGSPSGSGSTSHCDSGGT
FT SS -> EPAPRPAPQLVHHGGRSRSFSLWSLCELPFLSQKP
FT RRLAAPAS (in isoform 2).
FT /FTId=VSP_022748.
FT VAR_SEQ 914 935 TSHCDSGGTSSSSTPSTAQSPA -> MAATGFSAPNGSCHG
FT TSRTVNS (in isoform 3).
FT /FTId=VSP_022749.
FT VAR_SEQ 925 1053 Missing (in isoform 2).
FT /FTId=VSP_022750.
FT VARIANT 906 906 G -> E (in dbSNP:rs2241100).
FT /FTId=VAR_030288.
SQ SEQUENCE 1053 AA; 117715 MW; 89DE7C0AE228B0D9 CRC64;
MFGRSRSWVG GGHGKTSRNI HSLDHLKYLY HVLTKNTTVT EQNRNLLVET IRSITEILIW
GDQNDSSVFD FFLEKNMFVF FLNILRQKSG RYVCVQLLQT LNILFENISH ETSLYYLLSN
NYVNSIIVHK FDFSDEEIMA YYISFLKTLS LKLNNHTVHF FYNEHTNDFA LYTEAIKFFN
HPESMVRIAV RTITLNVYKV SLDNQAMLHY IRDKTAVPYF SNLVWFIGSH VIELDDCVQT
DEEHRNRGKL SDLVAEHLDH LHYLNDILII NCEFLNDVLT DHLLNRLFLP LYVYSLENQD
KGGERPKISL PVSLYLLSQV FLIIHHAPLV NSLAEVILNG DLSEMYAKTE QDIQRSSAKP
SIRCFIKPTE TLERSLEMNK HKGKRRVQKR PNYKNVGEEE DEEKGPTEDA QEDAEKAKGT
EGGSKGIKTS GESEEIEMVI MERSKLSELA ASTSVQEQNT TDEEKSAAAT CSESTQWSRP
FLDMVYHALD SPDDDYHALF VLCLLYAMSH NKGMDPEKLE RIQLPVPNAA EKTTYNHPLA
ERLIRIMNNA AQPDGKIRLA TLELSCLLLK QQVLMSAGCI MKDVHLACLE GAREESVHLV
RHFYKGEDIF LDMFEDEYRS MTMKPMNVEY LMMDASILLP PTGTPLTGID FVKRLPCGDV
EKTRRAIRVF FMLRSLSLQL RGEPETQLPL TREEDLIKTD DVLDLNNSDL IACTVITKDG
GMVQRFLAVD IYQMSLVEPD VSRLGWGVVK FAGLLQDMQV TGVEDDSRAL NITIHKPASS
PHSKPFPILQ ATFIFSDHIR CIIAKQRLAK GRIQARRMKM QRIAALLDLP IQPTTEVLGF
GLGSSTSTQH LPFRFYDQGR RGSSDPTVQR SVFASVDKVP GFAVAQCINQ HSSPSLSSQS
PPSASGSPSG SGSTSHCDSG GTSSSSTPST AQSPADAPMS PELPKPHLPD QLVIVNETEA
DSKPSKNVAR SAAVETASLS PSLVPARQPT ISLLCEDTAD TLSVESLTLV PPVDPHSLRS
LTGMPPLSTP AAACTEPVGE EAACAEPVGT AED
//
ID CL16A_HUMAN Reviewed; 1053 AA.
AC Q2KHT3; O15058; Q6ZTB2;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
read moreDT 06-FEB-2007, sequence version 2.
DT 22-JAN-2014, entry version 60.
DE RecName: Full=Protein CLEC16A;
GN Name=CLEC16A; Synonyms=KIAA0350;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9205841; DOI=10.1093/dnares/4.2.141;
RA Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. VII.
RT The complete sequences of 100 new cDNA clones from brain which can
RT code for large proteins in vitro.";
RL DNA Res. 4:141-150(1997).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Lymph;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP INVOLVEMENT IN IDDM, AND TISSUE SPECIFICITY.
RX PubMed=17632545; DOI=10.1038/nature06010;
RA Hakonarson H., Grant S.F.A., Bradfield J.P., Marchand L., Kim C.E.,
RA Glessner J.T., Grabs R., Casalunovo T., Taback S.P., Frackelton E.C.,
RA Lawson M.L., Robinson L.J., Skraban R., Lu Y., Chiavacci R.M.,
RA Stanley C.A., Kirsch S.E., Rappaport E.F., Orange J.S., Monos D.S.,
RA Devoto M., Qu H.-Q., Polychronakos C.;
RT "A genome-wide association study identifies KIAA0350 as a type 1
RT diabetes gene.";
RL Nature 448:591-594(2007).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q2KHT3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2KHT3-2; Sequence=VSP_022746, VSP_022747, VSP_022748,
CC VSP_022750;
CC Name=3;
CC IsoId=Q2KHT3-3; Sequence=VSP_022745, VSP_022749;
CC Note=No experimental confirmation available;
CC -!- TISSUE SPECIFICITY: Almost exclusively expressed in immune cells,
CC including dendritic cells, B-lymphocytes and natural killer cells.
CC -!- DISEASE: Note=Insulin-dependent diabetes mellitus is significantly
CC associated with variation within a 233-kb linkage disequilibrium
CC block on chromosome 16p13 that includes KIAA0350. Three common
CC non-coding variants of KIAA0350 in strong linkage disequilibrium
CC reach genome-wide significance for association with the disease
CC (PubMed:17632545).
CC -!- SIMILARITY: Belongs to the CLEC16A/gop-1 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA20807.3; Type=Erroneous initiation;
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AB002348; BAA20807.3; ALT_INIT; mRNA.
DR EMBL; AK126771; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC112897; AAI12898.1; -; mRNA.
DR RefSeq; NP_001230332.1; NM_001243403.1.
DR RefSeq; NP_056041.1; NM_015226.2.
DR UniGene; Hs.35490; -.
DR ProteinModelPortal; Q2KHT3; -.
DR IntAct; Q2KHT3; 1.
DR STRING; 9606.ENSP00000387122; -.
DR PhosphoSite; Q2KHT3; -.
DR DMDM; 125950459; -.
DR PaxDb; Q2KHT3; -.
DR PRIDE; Q2KHT3; -.
DR Ensembl; ENST00000381822; ENSP00000371244; ENSG00000038532.
DR Ensembl; ENST00000409552; ENSP00000386495; ENSG00000038532.
DR Ensembl; ENST00000409790; ENSP00000387122; ENSG00000038532.
DR GeneID; 23274; -.
DR KEGG; hsa:23274; -.
DR UCSC; uc002dao.3; human.
DR CTD; 23274; -.
DR GeneCards; GC16P011038; -.
DR HGNC; HGNC:29013; CLEC16A.
DR HPA; HPA035814; -.
DR HPA; HPA035815; -.
DR MIM; 611303; gene.
DR neXtProt; NX_Q2KHT3; -.
DR PharmGKB; PA162382340; -.
DR eggNOG; NOG252032; -.
DR HOGENOM; HOG000000678; -.
DR HOVERGEN; HBG096072; -.
DR OMA; IFSDHIR; -.
DR OrthoDB; EOG773XF9; -.
DR ChiTaRS; CLEC16A; human.
DR GeneWiki; CLEC16A; -.
DR GenomeRNAi; 23274; -.
DR NextBio; 45050; -.
DR PRO; PR:Q2KHT3; -.
DR ArrayExpress; Q2KHT3; -.
DR Bgee; Q2KHT3; -.
DR CleanEx; HS_CLEC16A; -.
DR Genevestigator; Q2KHT3; -.
DR InterPro; IPR019155; Uncharacterised_FPL.
DR Pfam; PF09758; FPL; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Diabetes mellitus;
KW Polymorphism; Reference proteome.
FT CHAIN 1 1053 Protein CLEC16A.
FT /FTId=PRO_0000274476.
FT COMPBIAS 892 933 Ser-rich.
FT VAR_SEQ 1 913 Missing (in isoform 3).
FT /FTId=VSP_022745.
FT VAR_SEQ 201 202 Missing (in isoform 2).
FT /FTId=VSP_022746.
FT VAR_SEQ 419 434 Missing (in isoform 2).
FT /FTId=VSP_022747.
FT VAR_SEQ 882 924 FAVAQCINQHSSPSLSSQSPPSASGSPSGSGSTSHCDSGGT
FT SS -> EPAPRPAPQLVHHGGRSRSFSLWSLCELPFLSQKP
FT RRLAAPAS (in isoform 2).
FT /FTId=VSP_022748.
FT VAR_SEQ 914 935 TSHCDSGGTSSSSTPSTAQSPA -> MAATGFSAPNGSCHG
FT TSRTVNS (in isoform 3).
FT /FTId=VSP_022749.
FT VAR_SEQ 925 1053 Missing (in isoform 2).
FT /FTId=VSP_022750.
FT VARIANT 906 906 G -> E (in dbSNP:rs2241100).
FT /FTId=VAR_030288.
SQ SEQUENCE 1053 AA; 117715 MW; 89DE7C0AE228B0D9 CRC64;
MFGRSRSWVG GGHGKTSRNI HSLDHLKYLY HVLTKNTTVT EQNRNLLVET IRSITEILIW
GDQNDSSVFD FFLEKNMFVF FLNILRQKSG RYVCVQLLQT LNILFENISH ETSLYYLLSN
NYVNSIIVHK FDFSDEEIMA YYISFLKTLS LKLNNHTVHF FYNEHTNDFA LYTEAIKFFN
HPESMVRIAV RTITLNVYKV SLDNQAMLHY IRDKTAVPYF SNLVWFIGSH VIELDDCVQT
DEEHRNRGKL SDLVAEHLDH LHYLNDILII NCEFLNDVLT DHLLNRLFLP LYVYSLENQD
KGGERPKISL PVSLYLLSQV FLIIHHAPLV NSLAEVILNG DLSEMYAKTE QDIQRSSAKP
SIRCFIKPTE TLERSLEMNK HKGKRRVQKR PNYKNVGEEE DEEKGPTEDA QEDAEKAKGT
EGGSKGIKTS GESEEIEMVI MERSKLSELA ASTSVQEQNT TDEEKSAAAT CSESTQWSRP
FLDMVYHALD SPDDDYHALF VLCLLYAMSH NKGMDPEKLE RIQLPVPNAA EKTTYNHPLA
ERLIRIMNNA AQPDGKIRLA TLELSCLLLK QQVLMSAGCI MKDVHLACLE GAREESVHLV
RHFYKGEDIF LDMFEDEYRS MTMKPMNVEY LMMDASILLP PTGTPLTGID FVKRLPCGDV
EKTRRAIRVF FMLRSLSLQL RGEPETQLPL TREEDLIKTD DVLDLNNSDL IACTVITKDG
GMVQRFLAVD IYQMSLVEPD VSRLGWGVVK FAGLLQDMQV TGVEDDSRAL NITIHKPASS
PHSKPFPILQ ATFIFSDHIR CIIAKQRLAK GRIQARRMKM QRIAALLDLP IQPTTEVLGF
GLGSSTSTQH LPFRFYDQGR RGSSDPTVQR SVFASVDKVP GFAVAQCINQ HSSPSLSSQS
PPSASGSPSG SGSTSHCDSG GTSSSSTPST AQSPADAPMS PELPKPHLPD QLVIVNETEA
DSKPSKNVAR SAAVETASLS PSLVPARQPT ISLLCEDTAD TLSVESLTLV PPVDPHSLRS
LTGMPPLSTP AAACTEPVGE EAACAEPVGT AED
//
MIM
611303
*RECORD*
*FIELD* NO
611303
*FIELD* TI
*611303 C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A
;;KIAA0350
*FIELD* TX
CLONING
read more
By sequencing clones obtained from a size-fractionated brain cDNA
library, Nagase et al. (1997) obtained a partial cDNA encoding CLEC16A,
which they designated KIAA0350. RT-PCR detected CLEC16A expression in
all tissues examined, with highest levels in kidney, testis, and ovary.
Nakajima et al. (2002, 2002) extended the partial KIAA0350 sequence and
found that the deduced full-length protein contains 1,062 amino acids.
MAPPING
By radiation hybrid analysis, Nagase et al. (1997) mapped the CLEC16A
gene to chromosome 16.
Hakonarson et al. (2007) noted that the CLEC16A gene maps to chromosome
16p13.
MOLECULAR GENETICS
- Association with Type I Diabetes Mellitus
The Wellcome Trust Case Control Consortium (2007) reported an
association between dbSNP rs12708716 in the KIAA0350 gene and type 1
diabetes (222100) (p = 1.28 x 10(-8); OR, 0.77). In a study of 4,000
individuals with type 1 diabetes, 5,000 controls, and 2,997 family trios
independent of the Wellcome Trust Case Control Consortium (2007) study,
Todd et al. (2007) confirmed the previously reported association of
dbSNP rs12708716 (p = 20.8 x 10(-13); combined with WTCCC p = 2.57 x
10(-18)).
To identify genetic factors that increase the risk of type 1 diabetes,
Hakonarson et al. (2007) performed a genomewide association study in a
large pediatric cohort of European descent. In addition to confirming
previously identified loci, they found that type 1 diabetes was
significantly associated with variation within a 233-kb linkage
disequilibrium block on chromosome 16p13 that contains the KIAA0350
gene, which is predicted to encode a sugar-binding, C-type lectin. Three
common noncoding variants of this gene (dbSNP rs2903692, dbSNP rs725613,
and dbSNP rs17673553) in strong linkage disequilibrium reached
genomewide significance for association with type 1 diabetes. A
subsequent transmission disequilibrium test replication study in an
independent cohort confirmed the association. The combined P values for
these SNPs ranged from 2.74 x 10(-5) to 6.7 x 10(-7).
- Associations with Other Disorders
For a discussion of a possible association between variation in the
CLEC16A gene and susceptibility to multiple sclerosis, see MS (126200).
For a discussion of an association between variation in the CLEC16A gene
and selective immunoglobulin A deficiency, see IGAD1 (137100).
*FIELD* RF
1. Hakonarson, H.; Grant, S. F. A.; Bradfield, J. P.; Marchand, L.;
Kim, C. E.; Glessner, J. T.; Grabs, R.; Casalunovo, T.; Taback, S.
P.; Frackelton, E. C.; Lawson, M. L.; Robinson, L. J.; and 11 others
: A genome-wide association study identifies KIAA0350 as a type 1
diabetes gene. Nature 448: 591-594, 2007.
2. Nagase, T.; Ishikawa, K.; Nakajima, D.; Ohira, M.; Seki, N.; Miyajima,
N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of
the coding sequences of unidentified human genes. VII. The complete
sequences of 100 new cDNA clones from brain which can code for large
proteins in vitro. DNA Res. 4: 141-150, 1997.
3. Nakajima, D.; Okazaki, N.; Yamakawa, H.; Kikuno, R.; Ohara, O.;
Nagase, T.: Construction of expression-ready cDNA clones for KIAA
genes: manual creation of 330 cDNA clones. DNA Res. 9: 99-106, 2002.
4. Nakajima, D.; Okazaki, N.; Yamakawa, H.; Kikuno, R.; Ohara, O.;
Nagase, T.: Construction of expression-ready cDNA clones for KIAA
genes: manual creation of 330 cDNA clones (Supplement). DNA Res. 9:
107-115, 2002.
5. Todd, J. A.; Walker, N. M.; Cooper, J. D.; Smyth, D. J.; Downes,
K.; Plagnol, V.; Bailey, R.; Nejentsev, S.; Field, S. F.; Payne, F.;
Lowe, C. E.; Szeszko, J. S.; and 30 others: Robust associations
of four new chromosome regions from genome-wide analyses of type 1
diabetes. Nature Genet. 39: 857-864, 2007.
6. Wellcome Trust Case Control Consortium: Genome-wide association
study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:
661-678, 2007.
*FIELD* CN
Marla J. F. O'Neill - updated: 9/24/2010
Marla J. F. O'Neill - updated: 11/19/2007
Ada Hamosh - updated: 8/13/2007
*FIELD* CD
Patricia A. Hartz: 8/6/2007
*FIELD* ED
wwang: 09/24/2010
terry: 9/24/2010
wwang: 1/13/2010
ckniffin: 12/29/2009
terry: 6/23/2009
wwang: 11/19/2007
carol: 8/14/2007
mgross: 8/14/2007
terry: 8/13/2007
mgross: 8/6/2007
*RECORD*
*FIELD* NO
611303
*FIELD* TI
*611303 C-TYPE LECTIN DOMAIN FAMILY 16, MEMBER A; CLEC16A
;;KIAA0350
*FIELD* TX
CLONING
read more
By sequencing clones obtained from a size-fractionated brain cDNA
library, Nagase et al. (1997) obtained a partial cDNA encoding CLEC16A,
which they designated KIAA0350. RT-PCR detected CLEC16A expression in
all tissues examined, with highest levels in kidney, testis, and ovary.
Nakajima et al. (2002, 2002) extended the partial KIAA0350 sequence and
found that the deduced full-length protein contains 1,062 amino acids.
MAPPING
By radiation hybrid analysis, Nagase et al. (1997) mapped the CLEC16A
gene to chromosome 16.
Hakonarson et al. (2007) noted that the CLEC16A gene maps to chromosome
16p13.
MOLECULAR GENETICS
- Association with Type I Diabetes Mellitus
The Wellcome Trust Case Control Consortium (2007) reported an
association between dbSNP rs12708716 in the KIAA0350 gene and type 1
diabetes (222100) (p = 1.28 x 10(-8); OR, 0.77). In a study of 4,000
individuals with type 1 diabetes, 5,000 controls, and 2,997 family trios
independent of the Wellcome Trust Case Control Consortium (2007) study,
Todd et al. (2007) confirmed the previously reported association of
dbSNP rs12708716 (p = 20.8 x 10(-13); combined with WTCCC p = 2.57 x
10(-18)).
To identify genetic factors that increase the risk of type 1 diabetes,
Hakonarson et al. (2007) performed a genomewide association study in a
large pediatric cohort of European descent. In addition to confirming
previously identified loci, they found that type 1 diabetes was
significantly associated with variation within a 233-kb linkage
disequilibrium block on chromosome 16p13 that contains the KIAA0350
gene, which is predicted to encode a sugar-binding, C-type lectin. Three
common noncoding variants of this gene (dbSNP rs2903692, dbSNP rs725613,
and dbSNP rs17673553) in strong linkage disequilibrium reached
genomewide significance for association with type 1 diabetes. A
subsequent transmission disequilibrium test replication study in an
independent cohort confirmed the association. The combined P values for
these SNPs ranged from 2.74 x 10(-5) to 6.7 x 10(-7).
- Associations with Other Disorders
For a discussion of a possible association between variation in the
CLEC16A gene and susceptibility to multiple sclerosis, see MS (126200).
For a discussion of an association between variation in the CLEC16A gene
and selective immunoglobulin A deficiency, see IGAD1 (137100).
*FIELD* RF
1. Hakonarson, H.; Grant, S. F. A.; Bradfield, J. P.; Marchand, L.;
Kim, C. E.; Glessner, J. T.; Grabs, R.; Casalunovo, T.; Taback, S.
P.; Frackelton, E. C.; Lawson, M. L.; Robinson, L. J.; and 11 others
: A genome-wide association study identifies KIAA0350 as a type 1
diabetes gene. Nature 448: 591-594, 2007.
2. Nagase, T.; Ishikawa, K.; Nakajima, D.; Ohira, M.; Seki, N.; Miyajima,
N.; Tanaka, A.; Kotani, H.; Nomura, N.; Ohara, O.: Prediction of
the coding sequences of unidentified human genes. VII. The complete
sequences of 100 new cDNA clones from brain which can code for large
proteins in vitro. DNA Res. 4: 141-150, 1997.
3. Nakajima, D.; Okazaki, N.; Yamakawa, H.; Kikuno, R.; Ohara, O.;
Nagase, T.: Construction of expression-ready cDNA clones for KIAA
genes: manual creation of 330 cDNA clones. DNA Res. 9: 99-106, 2002.
4. Nakajima, D.; Okazaki, N.; Yamakawa, H.; Kikuno, R.; Ohara, O.;
Nagase, T.: Construction of expression-ready cDNA clones for KIAA
genes: manual creation of 330 cDNA clones (Supplement). DNA Res. 9:
107-115, 2002.
5. Todd, J. A.; Walker, N. M.; Cooper, J. D.; Smyth, D. J.; Downes,
K.; Plagnol, V.; Bailey, R.; Nejentsev, S.; Field, S. F.; Payne, F.;
Lowe, C. E.; Szeszko, J. S.; and 30 others: Robust associations
of four new chromosome regions from genome-wide analyses of type 1
diabetes. Nature Genet. 39: 857-864, 2007.
6. Wellcome Trust Case Control Consortium: Genome-wide association
study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:
661-678, 2007.
*FIELD* CN
Marla J. F. O'Neill - updated: 9/24/2010
Marla J. F. O'Neill - updated: 11/19/2007
Ada Hamosh - updated: 8/13/2007
*FIELD* CD
Patricia A. Hartz: 8/6/2007
*FIELD* ED
wwang: 09/24/2010
terry: 9/24/2010
wwang: 1/13/2010
ckniffin: 12/29/2009
terry: 6/23/2009
wwang: 11/19/2007
carol: 8/14/2007
mgross: 8/14/2007
terry: 8/13/2007
mgross: 8/6/2007