Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Intraflagellar transport protein 122 homolog (WD repeat-containing protein 10) (WD repeat-containing protein 140)

 IF122_HUMAN             Reviewed;        1241 AA.
Q9HBG6; B3KW53; B4DEY9; B4DPW7; E7EQF4; E9PDG2; E9PDX2; G3XAB1;
H7C3C0; Q53G36; Q8TC06; Q9BTB9; Q9BTY4; Q9HAT9; Q9HBG5; Q9NV68;
Q9UF80;
27-MAR-2002, integrated into UniProtKB/Swiss-Prot.
04-NOV-2008, sequence version 2.
30-AUG-2017, entry version 144.
RecName: Full=Intraflagellar transport protein 122 homolog;
AltName: Full=WD repeat-containing protein 10;
AltName: Full=WD repeat-containing protein 140;
Name=IFT122; Synonyms=SPG, WDR10, WDR140;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), AND TISSUE SPECIFICITY.
PubMed=11242542; DOI=10.1089/10445490150504684;
Gross C., De Baere E., Lo A., Chang W., Messiaen L.;
"Cloning and characterization of human WDR10, a novel gene located at
3q21 encoding a WD-repeat protein that is highly expressed in
pituitary and testis.";
DNA Cell Biol. 20:41-52(2001).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Shan Y.X., Li J.M., Sha J.H.;
"The research of spermatogenesis related genes.";
Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 9; 10 AND 11).
TISSUE=Cerebellum;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 8).
TISSUE=Testis;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16641997; DOI=10.1038/nature04728;
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R.,
Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R.,
Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V.,
Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.,
Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B.,
Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S.,
Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q.,
Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C.,
Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G.,
Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B.,
Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R.,
Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J.,
Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A.,
Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J.,
Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H.,
Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G.,
Gibbs R.A.;
"The DNA sequence, annotation and analysis of human chromosome 3.";
Nature 440:1194-1198(2006).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
TISSUE=Lung, and Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
IDENTIFICATION IN THE IFT-A COMPLEX.
PubMed=20889716; DOI=10.1101/gad.1966210;
Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J.,
Jackson P.K.;
"TULP3 bridges the IFT-A complex and membrane phosphoinositides to
promote trafficking of G protein-coupled receptors into primary
cilia.";
Genes Dev. 24:2180-2193(2010).
[9]
VARIANTS CED1 CYS-7; PHE-322 AND GLY-502.
PubMed=20493458; DOI=10.1016/j.ajhg.2010.04.012;
Walczak-Sztulpa J., Eggenschwiler J., Osborn D., Brown D.A., Emma F.,
Klingenberg C., Hennekam R.C., Torre G., Garshasbi M., Tzschach A.,
Szczepanska M., Krawczynski M., Zachwieja J., Zwolinska D.,
Beales P.L., Ropers H.H., Latos-Bielenska A., Kuss A.W.;
"Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy
caused by mutations in the IFT122 gene.";
Am. J. Hum. Genet. 86:949-956(2010).
-!- FUNCTION: Required for cilia formation during neuronal patterning.
Acts as a negative regulator of Shh signaling. Required to recruit
TULP3 to primary cilia (By similarity). {ECO:0000250}.
-!- SUBUNIT: Component of the IFT complex A (IFT-A) complex.
{ECO:0000269|PubMed:20889716}.
-!- INTERACTION:
Q9Q2G4:ORF (xeno); NbExp=3; IntAct=EBI-2805994, EBI-6248094;
-!- SUBCELLULAR LOCATION: Cytoplasm. Cell projection, cilium
{ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body
{ECO:0000250}. Note=Localizes to photoreceptor connecting cilia.
{ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=10;
Name=1;
IsoId=Q9HBG6-1; Sequence=Displayed;
Name=3;
IsoId=Q9HBG6-3; Sequence=VSP_041161;
Name=4;
IsoId=Q9HBG6-4; Sequence=VSP_043310, VSP_041161, VSP_043311;
Note=No experimental confirmation available.;
Name=5;
IsoId=Q9HBG6-5; Sequence=VSP_045224;
Name=6;
IsoId=Q9HBG6-6; Sequence=VSP_045224, VSP_041161, VSP_043311;
Name=7;
IsoId=Q9HBG6-7; Sequence=VSP_056773, VSP_041161;
Name=8;
IsoId=Q9HBG6-8; Sequence=VSP_056773;
Name=9;
IsoId=Q9HBG6-9; Sequence=VSP_056774, VSP_041161, VSP_056777,
VSP_043311;
Name=10;
IsoId=Q9HBG6-10; Sequence=VSP_056775, VSP_056776, VSP_043311;
Name=11;
IsoId=Q9HBG6-11; Sequence=VSP_041161, VSP_056778;
-!- TISSUE SPECIFICITY: Expressed in many tissues. Predominant
expression in testis and pituitary. {ECO:0000269|PubMed:11242542}.
-!- DISEASE: Cranioectodermal dysplasia 1 (CED1) [MIM:218330]: A
disorder characterized by craniofacial, skeletal and ectodermal
abnormalities. Clinical features include dolichocephaly (with or
without sagittal suture synostosis), scaphocephaly, short stature,
limb shortening, short ribs, narrow chest, brachydactyly, renal
failure and hepatic fibrosis, small and abnormally shaped teeth,
sparse hair, skin laxity and abnormal nails.
{ECO:0000269|PubMed:20493458}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; AF244930; AAG15427.1; -; mRNA.
EMBL; AF244931; AAG15428.1; -; mRNA.
EMBL; AF302154; AAG13415.1; -; mRNA.
EMBL; AK001759; BAA91888.1; -; mRNA.
EMBL; AK293852; BAG57250.1; -; mRNA.
EMBL; AK298526; BAG60729.1; -; mRNA.
EMBL; AK124140; BAG54015.1; -; mRNA.
EMBL; AK223095; BAD96815.1; -; mRNA.
EMBL; AC080007; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL449212; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471052; EAW79246.1; -; Genomic_DNA.
EMBL; CH471052; EAW79247.1; -; Genomic_DNA.
EMBL; CH471052; EAW79249.1; -; Genomic_DNA.
EMBL; CH471052; EAW79250.1; -; Genomic_DNA.
EMBL; BC028353; AAH28353.1; -; mRNA.
EMBL; BC003045; AAH03045.2; -; mRNA.
EMBL; BC004238; AAH04238.1; -; mRNA.
CCDS; CCDS3059.1; -. [Q9HBG6-3]
CCDS; CCDS3060.1; -. [Q9HBG6-5]
CCDS; CCDS3061.1; -. [Q9HBG6-1]
CCDS; CCDS3062.1; -. [Q9HBG6-4]
CCDS; CCDS63770.1; -. [Q9HBG6-6]
CCDS; CCDS63772.1; -. [Q9HBG6-8]
CCDS; CCDS63773.1; -. [Q9HBG6-7]
PIR; T43484; T43484.
RefSeq; NP_001267470.1; NM_001280541.1. [Q9HBG6-6]
RefSeq; NP_001267474.1; NM_001280545.1. [Q9HBG6-8]
RefSeq; NP_001267475.1; NM_001280546.1. [Q9HBG6-7]
RefSeq; NP_060732.2; NM_018262.3. [Q9HBG6-3]
RefSeq; NP_443711.2; NM_052985.3. [Q9HBG6-5]
RefSeq; NP_443715.1; NM_052989.2. [Q9HBG6-1]
RefSeq; NP_443716.1; NM_052990.2. [Q9HBG6-4]
UniGene; Hs.655284; -.
ProteinModelPortal; Q9HBG6; -.
SMR; Q9HBG6; -.
BioGrid; 120882; 20.
IntAct; Q9HBG6; 17.
STRING; 9606.ENSP00000296266; -.
iPTMnet; Q9HBG6; -.
PhosphoSitePlus; Q9HBG6; -.
BioMuta; IFT122; -.
DMDM; 212276436; -.
EPD; Q9HBG6; -.
MaxQB; Q9HBG6; -.
PaxDb; Q9HBG6; -.
PeptideAtlas; Q9HBG6; -.
PRIDE; Q9HBG6; -.
DNASU; 55764; -.
Ensembl; ENST00000296266; ENSP00000296266; ENSG00000163913. [Q9HBG6-5]
Ensembl; ENST00000347300; ENSP00000323973; ENSG00000163913. [Q9HBG6-3]
Ensembl; ENST00000348417; ENSP00000324005; ENSG00000163913. [Q9HBG6-1]
Ensembl; ENST00000349441; ENSP00000324165; ENSG00000163913. [Q9HBG6-4]
Ensembl; ENST00000431818; ENSP00000410946; ENSG00000163913. [Q9HBG6-8]
Ensembl; ENST00000440957; ENSP00000401569; ENSG00000163913. [Q9HBG6-7]
Ensembl; ENST00000504021; ENSP00000422179; ENSG00000163913. [Q9HBG6-9]
Ensembl; ENST00000507564; ENSP00000425536; ENSG00000163913. [Q9HBG6-6]
GeneID; 55764; -.
KEGG; hsa:55764; -.
UCSC; uc003eml.5; human. [Q9HBG6-1]
CTD; 55764; -.
DisGeNET; 55764; -.
GeneCards; IFT122; -.
GeneReviews; IFT122; -.
H-InvDB; HIX0003670; -.
H-InvDB; HIX0163443; -.
HGNC; HGNC:13556; IFT122.
HPA; HPA041815; -.
MalaCards; IFT122; -.
MIM; 218330; phenotype.
MIM; 606045; gene.
neXtProt; NX_Q9HBG6; -.
OpenTargets; ENSG00000163913; -.
Orphanet; 1515; Cranioectodermal dysplasia.
PharmGKB; PA37798; -.
eggNOG; KOG1538; Eukaryota.
eggNOG; COG2319; LUCA.
GeneTree; ENSGT00390000001016; -.
HOGENOM; HOG000261131; -.
HOVERGEN; HBG069969; -.
InParanoid; Q9HBG6; -.
KO; K19656; -.
OMA; YKCSNYS; -.
OrthoDB; EOG091G01CU; -.
PhylomeDB; Q9HBG6; -.
TreeFam; TF105855; -.
Reactome; R-HSA-5610787; Hedgehog 'off' state.
Reactome; R-HSA-5620924; Intraflagellar transport.
SignaLink; Q9HBG6; -.
ChiTaRS; IFT122; human.
GenomeRNAi; 55764; -.
PRO; PR:Q9HBG6; -.
Proteomes; UP000005640; Chromosome 3.
Bgee; ENSG00000163913; -.
CleanEx; HS_IFT122; -.
ExpressionAtlas; Q9HBG6; baseline and differential.
Genevisible; Q9HBG6; HS.
GO; GO:0036064; C:ciliary basal body; IEA:Ensembl.
GO; GO:0097546; C:ciliary base; IEA:Ensembl.
GO; GO:0097542; C:ciliary tip; TAS:Reactome.
GO; GO:0005929; C:cilium; ISS:UniProtKB.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0030991; C:intraciliary transport particle A; IDA:UniProtKB.
GO; GO:0016020; C:membrane; IDA:UniProtKB.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0032391; C:photoreceptor connecting cilium; ISS:UniProtKB.
GO; GO:0048593; P:camera-type eye morphogenesis; ISS:UniProtKB.
GO; GO:0060830; P:ciliary receptor clustering involved in smoothened signaling pathway; IEA:Ensembl.
GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
GO; GO:0010172; P:embryonic body morphogenesis; ISS:UniProtKB.
GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl.
GO; GO:0035115; P:embryonic forelimb morphogenesis; IEA:Ensembl.
GO; GO:0035050; P:embryonic heart tube development; ISS:UniProtKB.
GO; GO:0060971; P:embryonic heart tube left/right pattern formation; IEA:Ensembl.
GO; GO:0072594; P:establishment of protein localization to organelle; IEA:Ensembl.
GO; GO:0035720; P:intraciliary anterograde transport; IEA:Ensembl.
GO; GO:0035721; P:intraciliary retrograde transport; ISS:UniProtKB.
GO; GO:0035735; P:intraciliary transport involved in cilium assembly; TAS:Reactome.
GO; GO:0060173; P:limb development; ISS:UniProtKB.
GO; GO:0050680; P:negative regulation of epithelial cell proliferation; IEA:Ensembl.
GO; GO:0045879; P:negative regulation of smoothened signaling pathway; ISS:UniProtKB.
GO; GO:0021914; P:negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning; IEA:Ensembl.
GO; GO:0001843; P:neural tube closure; ISS:UniProtKB.
GO; GO:1905515; P:non-motile cilium assembly; IEA:Ensembl.
GO; GO:0061512; P:protein localization to cilium; IMP:MGI.
GO; GO:0007227; P:signal transduction downstream of smoothened; IEA:Ensembl.
GO; GO:0060831; P:smoothened signaling pathway involved in dorsal/ventral neural tube patterning; IEA:Ensembl.
Gene3D; 1.25.40.10; -; 2.
Gene3D; 2.130.10.10; -; 1.
InterPro; IPR011990; TPR-like_helical_dom.
InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
InterPro; IPR001680; WD40_repeat.
InterPro; IPR017986; WD40_repeat_dom.
Pfam; PF00400; WD40; 1.
SMART; SM00320; WD40; 7.
SUPFAM; SSF50978; SSF50978; 3.
PROSITE; PS50082; WD_REPEATS_2; 1.
PROSITE; PS50294; WD_REPEATS_REGION; 1.
1: Evidence at protein level;
Alternative splicing; Cell projection; Ciliopathy; Cilium;
Cilium biogenesis/degradation; Complete proteome; Cytoplasm;
Cytoskeleton; Developmental protein; Disease mutation;
Ectodermal dysplasia; Reference proteome; Repeat; WD repeat.
CHAIN 1 1241 Intraflagellar transport protein 122
homolog.
/FTId=PRO_0000051045.
REPEAT 10 50 WD 1.
REPEAT 51 91 WD 2.
REPEAT 93 129 WD 3.
REPEAT 131 169 WD 4.
REPEAT 278 317 WD 5.
REPEAT 319 359 WD 6.
REPEAT 512 551 WD 7.
VAR_SEQ 1 150 Missing (in isoform 7 and isoform 8).
{ECO:0000303|PubMed:17974005}.
/FTId=VSP_056773.
VAR_SEQ 65 116 Missing (in isoform 4).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_043310.
VAR_SEQ 65 116 GKRFASGSADKSVIIWTSKLEGILKYTHNDAIQCVSYNPIT
HQLASCSSSDF -> VLCIE (in isoform 9).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_056774.
VAR_SEQ 66 117 Missing (in isoform 10).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_056775.
VAR_SEQ 91 91 T -> TSWSVMSSLHLHLPFLGLHKTVRVTATDKAPKGQGG
RIDCLRPSVQNQPGQK (in isoform 5 and
isoform 6).
{ECO:0000303|PubMed:11242542}.
/FTId=VSP_045224.
VAR_SEQ 139 247 SWTNDGQYLALGMFNGIISIRNKNGEEKVKIERPGGSLSPI
WSICWNPSSRWESFWMNRENEDAEDVIVNRYIQEIPSTLKS
AVYSSQGSEAEEEEPEEEDDSPRDDNL -> R (in
isoform 10).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_056776.
VAR_SEQ 188 247 SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGS
EAEEEEPEEEDDSPRDDNL -> R (in isoform 3,
isoform 4, isoform 6, isoform 7, isoform
9 and isoform 11).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_041161.
VAR_SEQ 665 682 Missing (in isoform 9).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_056777.
VAR_SEQ 930 930 Q -> QA (in isoform 4, isoform 6, isoform
9 and isoform 10).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_043311.
VAR_SEQ 1053 1241 Missing (in isoform 11).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_056778.
VARIANT 7 7 W -> C (in CED1; dbSNP:rs267607193).
{ECO:0000269|PubMed:20493458}.
/FTId=VAR_063584.
VARIANT 322 322 S -> F (in CED1; dbSNP:rs267607192).
{ECO:0000269|PubMed:20493458}.
/FTId=VAR_063585.
VARIANT 502 502 V -> G (in CED1; dbSNP:rs267607191).
{ECO:0000269|PubMed:20493458}.
/FTId=VAR_063586.
CONFLICT 238 238 E -> D (in Ref. 7; AAH28353).
{ECO:0000305}.
CONFLICT 273 273 I -> T (in Ref. 1; AAG15427).
{ECO:0000305}.
CONFLICT 489 489 L -> S (in Ref. 3; BAD96815).
{ECO:0000305}.
CONFLICT 687 687 R -> Q (in Ref. 1; AAG15428).
{ECO:0000305}.
CONFLICT 773 773 S -> P (in Ref. 4; BAG54015).
{ECO:0000305}.
CONFLICT 843 843 E -> G (in Ref. 4; BAG54015).
{ECO:0000305}.
CONFLICT 907 907 A -> V (in Ref. 1; AAG15428).
{ECO:0000305}.
CONFLICT 996 996 V -> VR (in Ref. 1; AAG15427 and 3;
BAG60729). {ECO:0000305}.
CONFLICT 1182 1182 L -> F (in Ref. 3; BAA91888 and 4;
BAG54015). {ECO:0000305}.
SEQUENCE 1241 AA; 141825 MW; 6C3C543369A6BDF5 CRC64;
MRAVLTWRDK AEHCINDIAF KPDGTQLILA AGSRLLVYDT SDGTLLQPLK GHKDTVYCVA
YAKDGKRFAS GSADKSVIIW TSKLEGILKY THNDAIQCVS YNPITHQLAS CSSSDFGLWS
PEQKSVSKHK SSSKIICCSW TNDGQYLALG MFNGIISIRN KNGEEKVKIE RPGGSLSPIW
SICWNPSSRW ESFWMNRENE DAEDVIVNRY IQEIPSTLKS AVYSSQGSEA EEEEPEEEDD
SPRDDNLEER NDILAVADWG QKVSFYQLSG KQIGKDRALN FDPCCISYFT KGEYILLGGS
DKQVSLFTKD GVRLGTVGEQ NSWVWTCQAK PDSNYVVVGC QDGTISFYQL IFSTVHGLYK
DRYAYRDSMT DVIVQHLITE QKVRIKCKEL VKKIAIYRNR LAIQLPEKIL IYELYSEDLS
DMHYRVKEKI IKKFECNLLV VCANHIILCQ EKRLQCLSFS GVKEREWQME SLIRYIKVIG
GPPGREGLLV GLKNGQILKI FVDNLFAIVL LKQATAVRCL DMSASRKKLA VVDENDTCLV
YDIDTKELLF QEPNANSVAW NTQCEDMLCF SGGGYLNIKA STFPVHRQKL QGFVVGYNGS
KIFCLHVFSI SAVEVPQSAP MYQYLDRKLF KEAYQIACLG VTDTDWRELA MEALEGLDFE
TAKKAFIRVQ DLRYLELISS IEERKKRGET NNDLFLADVF SYQGKFHEAA KLYKRSGHEN
LALEMYTDLC MFEYAKDFLG SGDPKETKML ITKQADWARN IKEPKAAVEM YISAGEHVKA
IEICGDHGWV DMLIDIARKL DKAEREPLLL CATYLKKLDS PGYAAETYLK MGDLKSLVQL
HVETQRWDEA FALGEKHPEF KDDIYMPYAQ WLAENDRFEE AQKAFHKAGR QREAVQVLEQ
LTNNAVAESR FNDAAYYYWM LSMQCLDIAQ DPAQKDTMLG KFYHFQRLAE LYHGYHAIHR
HTEDPFSVHR PETLFNISRF LLHSLPKDTP SGISKVKILF TLAKQSKALG AYRLARHAYD
KLRGLYIPAR FQKSIELGTL TIRAKPFHDS EELVPLCYRC STNNPLLNNL GNVCINCRQP
FIFSASSYDV LHLVEFYLEE GITDEEAISL IDLEVLRPKR DDRQLEIANN SSQILRLVET
KDSIGDEDPF TAKLSFEQGG SEFVPVVVSR LVLRSMSRRD VLIKRWPPPL RWQYFRSLLP
DASITMCPSC FQMFHSEDYE LLVLQHGCCP YCRRCKDDPG P


Related products :

Catalog number Product name Quantity
EIAAB46169 Homo sapiens,Human,IFT121,Intraflagellar transport protein 121 homolog,KIAA1336,WD repeat-containing protein 35,WDR35
EIAAB08269 CNPY3,CTG repeat protein 4a,CTG4A,ERDA5,Expanded repeat-domain protein CAG_CTG 5,Homo sapiens,HSPC084,Human,PRAT4A,Protein associated with TLR4,Protein canopy homolog 3,TNRC5,Trinucleotide repeat-cont
EIAAB44456 Bardet-Biedl syndrome 8 protein homolog,Bbs8,Mouse,Mus musculus,Tetratricopeptide repeat protein 8,TPR repeat protein 8,Ttc8
EIAAB11581 CCRP,Cytoplasmic CAR retention protein,DnaJ homolog subfamily C member 7,Dnajc7,MDj11,Mouse,Mus musculus,Tetratricopeptide repeat protein 2,TPR repeat protein 2,Ttc2
EIAAB14615 Afh,Fbl3a,F-box and leucine-rich repeat protein 3A,F-box_LRR-repeat protein 3,F-box_LRR-repeat protein 3A,Fbxl3,Fbxl3a,Mouse,Mus musculus,Ovtm,Protein after-hours,Protein overtime
EIAAB44425 DCRR1,E3 ubiquitin-protein ligase TTC3,Homo sapiens,Human,Protein DCRR1,RING finger protein 105,RNF105,Tetratricopeptide repeat protein 3,TPR repeat protein 3,TPR repeat protein D,TPRD,TTC3
EIAAB44454 Homo sapiens,Human,Tetratricopeptide repeat protein 7B,Tetratricopeptide repeat protein 7-like-1,TPR repeat protein 7B,TPR repeat protein 7-like-1,TTC7B,TTC7L1
EIAAB46135 Bromodomain and WD repeat-containing protein 2,BRWD2,Homo sapiens,Human,KIAA1351,WD repeat-containing protein 11,WD repeat-containing protein 15,WDR11,WDR15
EIAAB10559 Dcaf7,DDB1- and CUL4-associated factor 7,Han11,Mouse,Mus musculus,WD repeat-containing protein 68,WD repeat-containing protein An11 homolog,Wdr68
EIAAB10560 DCAF7,DDB1- and CUL4-associated factor 7,HAN11,Homo sapiens,Human,WD repeat-containing protein 68,WD repeat-containing protein An11 homolog,WDR68
EIAAB11582 DnaJ homolog subfamily C member 7,DNAJC7,Homo sapiens,Human,Tetratricopeptide repeat protein 2,TPR repeat protein 2,TPR2,TTC2
EIAAB38884 Brain-enriched WD repeat-containing protein,Bwd,Rat,Rattus norvegicus,Smu1,Smu-1 suppressor of mec-8 and unc-52 protein homolog,WD40 repeat-containing protein SMU1
EIAAB13053 CAG repeat protein 32,CAGH32,Domino homolog,E1A-binding protein p400,EP400,hDomino,Homo sapiens,Human,KIAA1498,KIAA1818,p400 kDa SWI2_SNF2-related protein,TNRC12,Trinucleotide repeat-containing gene 1
EIAAB14616 FBL3A,F-box and leucine-rich repeat protein 3A,F-box_LRR-repeat protein 3,F-box_LRR-repeat protein 3A,FBXL3,FBXL3A,Homo sapiens,Human
EIAAB46358 Atg18 protein homolog,Homo sapiens,Human,WD repeat domain phosphoinositide-interacting protein 1,WD40 repeat protein interacting with phosphoinositides of 49 kDa,WIPI 49 kDa,WIPI1,WIPI-1,WIPI49
EIAAB46451 Dd57,Mouse,Mus musculus,WD repeat-containing protein 8,WD repeat-containing protein antisense to TP73 gene,WD repeat-containing protein WRAP73,Wdr8,Wrap73
EIAAB46450 Homo sapiens,Human,WD repeat-containing protein 8,WD repeat-containing protein antisense to TP73 gene,WD repeat-containing protein WRAP73,WDR8,WRAP73
EIAAB46365 Homo sapiens,Human,WD repeat domain phosphoinositide-interacting protein 3,WD repeat-containing protein 45-like,WDR45L,WDR45-like protein,WIPI3,WIPI-3,WIPI49-like protein
EIAAB14621 FBL4,FBL5,F-box and leucine-rich repeat protein 5,F-box protein FBL4_FBL5,F-box_LRR-repeat protein 5,FBXL5,FLR1,Homo sapiens,Human,p45SKP2-like protein
EIAAB44421 Homo sapiens,Human,Protein TBPP2A,Testis development protein NYD-SP14,Tetratricopeptide repeat protein 29,TPR repeat protein 29,TTC29
EIAAB46274 Homo sapiens,Human,PQQ repeat and WD repeat-containing protein,PQWD,WD repeat-containing protein 88,WDR88
EIAAB43358 CAG repeat protein 26,CAGH26,EMSY interactor protein,Glycine-tryptophan protein of 182 kDa,GW182 autoantigen,Homo sapiens,Human,KIAA1460,Protein GW1,TNRC6,TNRC6A,Trinucleotide repeat-containing gene 6
10-288-21986F WD repeat protein 68 - WD repeat protein An11 homolog 0.1 mg
10-288-21986F WD repeat protein 68 - WD repeat protein An11 homolog 0.05 mg
EIAAB46368 DXImx38e,Mouse,Mus musculus,WD repeat domain phosphoinositide-interacting protein 4,WD repeat domain X-linked 1,WD repeat-containing protein 45,Wdr45,Wdrx1,Wipi4,WIPI-4


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur