| Type | Description |
|---|---|
| Definition | tetratricopeptide repeat domain 30B |
| Date | Results | Publications |
|---|---|---|
| 2020-09-19 16:23:00 | A rare TTC30B variant is identified as a candidate for synpolydactyly in a Chinese pedigree. | 31306809 |
| Type | IDs |
|---|---|
| Synonymous | IFT70, IFT70B, fleer |
| Gene |
UniProtKB-ID:
TT30B_HUMAN
UniprotKB:
Q8N4P2
UniParc:
UPI000013DE25
EMBL:
BX647620,
BC033795,
AC073834,
CH471058,
AK055552
Ensembl:
ENSG00000196659
KO:
hsa:150737
|
| Nucleutide sequences |
EMBL-CDS:
BAB70953.1,
AAH33795.1,
EAX11054.1,
CAH56200.1
Ensembl_TRS:
ENST00000408939
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000386181
RefSeq:
NP_689730.2
|
| Others |
UniRef100:
UniRef100_Q8N4P2
UniRef90:
UniRef90_Q8N4P2
UniRef50:
UniRef50_Q8N4P2
UniGene:
Hs.447659
CCDS:
CCDS42784.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| Pubmed编号 | 文献信息 | 发表日期 | 相关基因 |
|---|---|---|---|
| 31306809 |
A rare TTC30B variant is identified as a candidate for synpolydactyly in a Chinese pedigree. Bone Ye Du , Fangfang Chen , Jian Zhang , Zheguang Lin , Qian Ma , Guisheng Xu , Deming Xiao , Yaoting Gui , Jun Yang , Shengxiang Wan |
2019-10-01 | - |
| 29615496 |
CRISPR/Cas9-mediated Genomic Editing of Cluap1/IFT38 Reveals a New Role in Actin Arrangement. Mol Cell Proteomics Tina Beyer , Sylvia Bolz , Katrin Junger , Nicola Horn , Muhammad Moniruzzaman , Yasmin Wissinger , Marius Ueffing , Karsten Boldt |
2018-07-01 | - |
| 28514442 |
Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper |
2017-05-25 | - |
| 27173435 |
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun Karsten Boldt , Jeroen van Reeuwijk , Qianhao Lu , Konstantinos Koutroumpas , Thanh-Minh T Nguyen , Yves Texier , Sylvia E C van Beersum , Nicola Horn , Jason R Willer , Dorus A Mans , Gerard Dougherty , Ideke J C Lamers , Karlien L M Coene , Heleen H Arts , Matthew J Betts , Tina Beyer , Emine Bolat , Christian Johannes Gloeckner , Khatera Haidari , Lisette Hetterschijt , Daniela Iaconis , Dagan Jenkins , Franziska Klose , Barbara Knapp , Brooke Latour , Stef J F Letteboer , Carlo L Marcelis , Dragana Mitic , Manuela Morleo , Machteld M Oud , Moniek Riemersma , Susan Rix , Paulien A Terhal , Grischa Toedt , Teunis J P van Dam , Erik de Vrieze , Yasmin Wissinger , Ka Man Wu , Gordana Apic , Philip L Beales , Oliver E Blacque , Toby J Gibson , Martijn A Huynen , Nicholas Katsanis , Hannie Kremer , Heymut Omran , Erwin van Wijk , Uwe Wolfrum , François Kepes , Erica E Davis , Brunella Franco , Rachel H Giles , Marius Ueffing , Robert B Russell , Ronald Roepman , UK10K Rare Diseases Group |
2016-05-13 | - |
| 26389662 |
Nat. Cell Biol. Malavika Raman , Mikhail Sergeev , Maija Garnaas , John R Lydeard , Edward L Huttlin , Wolfram Goessling , Jagesh V Shah , J Wade Harper |
2015-10-01 |
myl7,
ubxn7,
ubxn10,
TIMM23,
ABCF2,
CDK4,
TOPORS,
TIMM17B,
STUB1,
UBE4B,
TUBB3,
UNC13B,
POLD3,
SEC24A,
PNPLA6,
TMED2,
ILVBL,
SLC27A4,
IFT27,
FAF1,
LACTB,
BTBD9,
KLHDC3,
UBXN10,
ADK,
UBXN2B,
CSNK1E,
CSNK1G3,
SLC25A10,
CSTF1,
TTC30B,
PPP4R2,
FAM91A1,
UBXN2A,
DSC1,
DSG1,
ELAVL2,
ERCC3,
ALDH1B1,
ABCB7,
ALDH9A1,
ALDH3A2,
KLHDC10,
UNC13A,
CLUAP1,
EMC1,
MYCBP2,
EPB41L3,
UBXN4,
FAF2,
VPS13A,
ABCF1,
UBR2,
GCAT,
TRAM1,
KLHDC2,
HSPBP1,
MTCH2,
YTHDF3,
KCTD13,
BRWD3,
UBXN7,
TRAF3IP1,
GCDH,
RANBP6,
ATP2C1,
HTRA2,
ACAD9,
IFT81,
SLC25A4,
GSK3B,
MSH6,
MYLPF,
PYCR2,
HLA-B,
HLA-C,
HMGB1,
MMAB,
HSPA2,
UBAC2,
IDE,
ACADM,
ACTBL2,
ACADSB,
ARAF,
STT3A,
JUN,
JUP,
KIFC1,
KPNA3,
MSH2,
MYO6,
NDUFS2,
ATP2B2,
ATP2B3,
NUP98,
ATP4A,
P4HB,
DERL2
|
| 26186194 |
The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin Wühr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi |
2015-07-16 | - |
| 23810713 |
Exp. Cell Res. Paul W Howard , Shall F Jue , Richard A Maurer |
2013-08-15 |
Ift81,
Kif17,
Ift88,
Ift52,
Ttc30a2,
Ift27,
Ift74,
Ift80,
Ttc30b,
Ift57,
Ttc30a1
|
| 21873635 |
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas |
2011-09-01 | - |
| 21602787 |
EMBO J. Chengtian Zhao , Jarema Malicki |
2011-05-20 | - |
| 16344560 |
Genome Res. Kouichi Kimura , Ai Wakamatsu , Yutaka Suzuki , Toshio Ota , Tetsuo Nishikawa , Riu Yamashita , Jun-ichi Yamamoto , Mitsuo Sekine , Katsuki Tsuritani , Hiroyuki Wakaguri , Shizuko Ishii , Tomoyasu Sugiyama , Kaoru Saito , Yuko Isono , Ryotaro Irie , Norihiro Kushida , Takahiro Yoneyama , Rie Otsuka , Katsuhiro Kanda , Takahide Yokoi , Hiroshi Kondo , Masako Wagatsuma , Katsuji Murakawa , Shinichi Ishida , Tadashi Ishibashi , Asako Takahashi-Fujii , Tomoo Tanase , Keiichi Nagai , Hisashi Kikuchi , Kenta Nakai , Takao Isogai , Sumio Sugano |
2006-01-01 |
Nefm,
MED6,
CDH2,
PDZK1P1,
DDTL,
ABI1,
GNPDA1,
GTF2IP4,
ZSCAN30,
SRA1,
TMEM170B,
HOTAIR,
FAM86JP,
LOC100126784,
C8orf88,
LOC100128006,
RAB28P5,
MYHAS,
CDC42P3,
LOC100128979,
LOC100128993,
KTN1-AS1,
LOC100129083,
LOC100129204,
TOPORS-AS1,
LINC00484,
ZNF37BP,
FAM47E,
MRVI1-AS1,
ZNF737,
LOC100130075,
MAPT-IT1,
MIR124-2HG,
LINC00861,
LOC100130238,
LOC100130357,
PARD6G-AS1,
LOC100130547,
NFYC-AS1,
EFCAB10,
LOC100130798,
SBK3,
LOC100130849,
LOC100130872,
LOC100130880,
LOC100130987,
LOC100131047,
LINC01135,
CKMT2-AS1,
ZBTB20-AS1,
WDR86-AS1,
CCDC183-AS1,
SNAP25-AS1,
NEMP2,
ZNF503-AS2,
MIR181A1HG,
DBIL5P,
HDAC6,
MZF1-AS1,
ARMCX4,
LINC00271,
ZNF717,
LOC100132057,
LOC100132111,
CALML3-AS1,
NDUFA6-AS1,
FRG1HP,
FCGR1CP,
GXYLT1P3,
GOLGA8F,
DCAF13P3,
IPO5P1,
MSC-AS1,
SMIM9,
FAM66A,
CD24,
UXT-AS1,
JHDM1D-AS1,
UBE2Q2P2,
TEN1,
JMJD7,
PLA2G4B,
LINC00930,
PDCD6IP,
HECTD2-AS1,
ZFHX4-AS1,
FAR2P2,
LOC100233156,
PCED1B-AS1,
PIGK,
LOC100270746,
LOC100270804,
LINC00940,
ERVV-2,
MEF2B,
ZNRF2P2,
NFE2L3P2,
LINC00894,
BCDIN3D-AS1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
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| 排名 | 研究人员 | 文献 |
|---|---|---|
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