| Type | Description |
|---|---|
| Definition | dynein axonemal assembly factor 3 |
| Date | Results | Publications |
|---|---|---|
| 2019-12-07 11:06:00 | as the first report on DNAAF3 mutations in PCD patients in China, our study not only expands the spectrum of DNAAF3 mutations but also further complements the detailed phenotype characteristics of these patients. | 31186518 |
| 2019-06-01 12:17:00 | Genetic variants within DNAH6, DNAH14, and DNAAF3 are associated with variation in lung function among persons with cystic fibrosis. | 29323929 |
| 2012-06-02 11:34:00 | study identified loss-of-function mutations in the human DNAAF3 gene in individuals from families with situs inversus and defects in the assembly of inner and outer dynein arm | 22387996 |
| Type | IDs |
|---|---|
| Synonymous | C19orf51, CILD2, DAB1, PCD, PF22 |
| Gene |
UniProtKB-ID:
DAAF3_HUMAN
UniprotKB:
Q8N9W5
UniParc:
UPI0000227E27,
UPI00005905AA,
UPI0001E5E82E,
UPI000007219C,
UPI00000722C7
EMBL:
AK093458,
AK097388,
BC016843,
AK093473,
AC010327,
BC063449
Ensembl:
ENSG00000167646
KO:
hsa:352909
|
| Nucleutide sequences |
EMBL-CDS:
BAC05029.1,
AAH16843.1,
AAH63449.1,
BAC04177.1,
BAC04172.1
Ensembl_TRS:
ENST00000524407,
ENST00000391720,
ENST00000527223,
ENST00000455045,
ENST00000528412,
ENST00000534214
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000433826,
ENSP00000433247,
ENSP00000436975,
ENSP00000394343,
ENSP00000432046,
ENSP00000375600
RefSeq:
NP_001243643.1,
NP_001243645.1,
NP_001243644.1,
NP_849159.2
|
| Others |
UniRef100:
UniRef100_Q8N9W5
UniRef90:
UniRef90_Q8N9W5
UniRef50:
UniRef50_Q8N9W5
UniGene:
Hs.351582
CCDS:
CCDS59422.1,
CCDS12918.2,
CCDS58679.1,
CCDS58680.1
|
| {{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 |
|---|---|---|---|
| 32738194 |
Quality Control of ER Membrane Proteins by the RNF185/Membralin Ubiquitin Ligase Complex. Mol Cell Michael L van de Weijer , Logesvaran Krshnan , Sabrina Liberatori , Elena Navarro Guerrero , Jacob Robson-Tull , Lilli Hahn , Robert Jan Lebbink , Emmanuel J H J Wiertz , Roman Fischer , Daniel Ebner , Pedro Carvalho |
2020-09-03 | - |
| 31186518 |
J Hum Genet Zhuoyao Guo , Weicheng Chen , Jianfeng Huang , Libo Wang , Liling Qian |
2019-08-01 | - |
| 30021884 |
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck |
2018-10-01 | - |
| 29323929 |
Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. Ann Am Thorac Soc Elizabeth Blue , Tin L Louie , Jessica X Chong , Scott J Hebbring , Kathleen C Barnes , Nicholas M Rafaels , Michael R Knowles , Ronald L Gibson , Michael J Bamshad , Mary J Emond , U.S. National Heart, Lung, and Blood Institute âGrand Opportunityâ Exome Sequencing Project (LungGO) |
2018-04-01 | - |
| 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 | - |
| 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 | - |
| 26673895 |
A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. Elife Koray Kırlı , Samir Karaca , Heinz Jürgen Dehne , Matthias Samwer , Kuan Ting Pan , Christof Lenz , Henning Urlaub , Dirk Görlich |
2015-01-01 |
CHA1,
KRR1,
SRO9,
STE50,
RRP7,
RNQ1,
DCC1,
GBP2,
SAT4,
RVS161,
YCR016W,
PWP2,
SSK22,
SOL2,
PAT1,
YCR087C-A,
OCA4,
MOB2,
EPL1,
BUD27,
FRS2,
LOC1,
YFR016C,
LSB3,
RPL2A,
PHO4,
SAP155,
IRC6,
ENT4,
PRP19,
RIX7,
YLL032C,
FRA1,
ISA1,
SPA2,
PUF3,
RPL8B,
NOC3,
SSL1,
SSK1,
NSE1,
RLP24,
SDO1,
ADE16,
RPL15A,
STU2,
RPS0B,
FRS1,
BMT6,
KIN2,
HRT3,
REX3,
YLR108C,
CFT2,
MSL5,
ACE2,
STM1,
YLR157C-A,
APS1,
CBF5,
SWI6,
SKG3,
HCR1,
PWP1,
NOP56,
BUR2,
GPN3,
DBP9,
GCD7,
SGD1,
STE11,
NMD4,
RPS22B,
ROM2,
STP3,
IKI3,
REH1,
AFG2,
UTP21,
ATG17,
TUS1,
MAG2,
ATG23,
RPS1A,
FPR4,
PDP3,
CDC24,
RBG1,
FUN12,
MTW1,
PRP45,
MAK16,
ECM1,
GPB2,
VPS8,
KIN3,
CDC15,
YAT1,
WHI4
|
| 22387996 |
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat. Genet. Hannah M Mitchison , Miriam Schmidts , Niki T Loges , Judy Freshour , Athina Dritsoula , Rob A Hirst , Christopher O'Callaghan , Hannah Blau , Maha Al Dabbagh , Heike Olbrich , Philip L Beales , Toshiki Yagi , Huda Mussaffi , Eddie M K Chung , Heymut Omran , David R Mitchell |
2012-04-01 |
dnaaf3,
myl7,
gapdh,
DNAAF3
|
| 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
|
| 14702039 |
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. Toshio Ota , Yutaka Suzuki , Tetsuo Nishikawa , Tetsuji Otsuki , Tomoyasu Sugiyama , Ryotaro Irie , Ai Wakamatsu , Koji Hayashi , Hiroyuki Sato , Keiichi Nagai , Kouichi Kimura , Hiroshi Makita , Mitsuo Sekine , Masaya Obayashi , Tatsunari Nishi , Toshikazu Shibahara , Toshihiro Tanaka , Shizuko Ishii , Jun-ichi Yamamoto , Kaoru Saito , Yuri Kawai , Yuko Isono , Yoshitaka Nakamura , Kenji Nagahari , Katsuhiko Murakami , Tomohiro Yasuda , Takao Iwayanagi , Masako Wagatsuma , Akiko Shiratori , Hiroaki Sudo , Takehiko Hosoiri , Yoshiko Kaku , Hiroyo Kodaira , Hiroshi Kondo , Masanori Sugawara , Makiko Takahashi , Katsuhiro Kanda , Takahide Yokoi , Takako Furuya , Emiko Kikkawa , Yuhi Omura , Kumi Abe , Kumiko Kamihara , Naoko Katsuta , Kazuomi Sato , Machiko Tanikawa , Makoto Yamazaki , Ken Ninomiya , Tadashi Ishibashi , Hiromichi Yamashita , Katsuji Murakawa , Kiyoshi Fujimori , Hiroyuki Tanai , Manabu Kimata , Motoji Watanabe , Susumu Hiraoka , Yoshiyuki Chiba , Shinichi Ishida , Yukio Ono , Sumiyo Takiguchi , Susumu Watanabe , Makoto Yosida , Tomoko Hotuta , Junko Kusano , Keiichi Kanehori , Asako Takahashi-Fujii , Hiroto Hara , Tomo-o Tanase , Yoshiko Nomura , Sakae Togiya , Fukuyo Komai , Reiko Hara , Kazuha Takeuchi , Miho Arita , Nobuyuki Imose , Kaoru Musashino , Hisatsugu Yuuki , Atsushi Oshima , Naokazu Sasaki , Satoshi Aotsuka , Yoko Yoshikawa , Hiroshi Matsunawa , Tatsuo Ichihara , Namiko Shiohata , Sanae Sano , Shogo Moriya , Hiroko Momiyama , Noriko Satoh , Sachiko Takami , Yuko Terashima , Osamu Suzuki , Satoshi Nakagawa , Akihiro Senoh , Hiroshi Mizoguchi , Yoshihiro Goto , Fumio Shimizu , Hirokazu Wakebe , Haretsugu Hishigaki , Takeshi Watanabe , Akio Sugiyama , Makoto Takemoto , Bunsei Kawakami , Masaaki Yamazaki , Koji Watanabe , Ayako Kumagai , Shoko Itakura , Yasuhito Fukuzumi , Yoshifumi Fujimori , Megumi Komiyama , Hiroyuki Tashiro , Akira Tanigami , Tsutomu Fujiwara , Toshihide Ono , Katsue Yamada , Yuka Fujii , Kouichi Ozaki , Maasa Hirao , Yoshihiro Ohmori , Ayako Kawabata , Takeshi Hikiji , Naoko Kobatake , Hiromi Inagaki , Yasuko Ikema , Sachiko Okamoto , Rie Okitani , Takuma Kawakami , Saori Noguchi , Tomoko Itoh , Keiko Shigeta , Tadashi Senba , Kyoka Matsumura , Yoshie Nakajima , Takae Mizuno , Misato Morinaga , Masahide Sasaki , Takushi Togashi , Masaaki Oyama , Hiroko Hata , Manabu Watanabe , Takami Komatsu , Junko Mizushima-Sugano , Tadashi Satoh , Yuko Shirai , Yukiko Takahashi , Kiyomi Nakagawa , Koji Okumura , Takahiro Nagase , Nobuo Nomura , Hisashi Kikuchi , Yasuhiko Masuho , Riu Yamashita , Kenta Nakai , Tetsushi Yada , Yusuke Nakamura , Osamu Ohara , Takao Isogai , Sumio Sugano |
2004-01-01 |
Slc9a8,
Nefm,
Hfe2,
AKT3,
ZBTB11-AS1,
LOC100034248,
PDZK1P1,
DDTL,
LOC100049716,
ACOT8,
GNPDA1,
ZBTB33,
GTF2IP4,
POM121C,
ZSCAN30,
SRA1,
SNORD123,
UCKL1-AS1,
ZGLP1,
LOC100125918,
LINC00322,
LOC100127940,
HECW1-IT1,
LOC100127955,
LOC100127972,
LOC100127974,
FAM229A,
LOC100128076,
STAU2-AS1,
LOC100128164,
TMPO-AS1,
LOC100128219,
LOC100128239,
LOC100128253,
TNK2-AS1,
DNM1P35,
LOC100128288,
DLG5-AS1,
LOC100128310,
TRAPPC3L,
FAM83H-AS1,
LOC100128361,
LOC100128364,
FAM225B,
LOC100128386,
LOC100128398,
ASTN2-AS1,
C1orf132,
MYHAS,
LOC100128651,
LINC00476,
SRRM2-AS1,
GPR158-AS1,
LINC01165,
VPS9D1-AS1,
FAM66B,
GATA6-AS1,
LINC01310,
LOC100128979,
LOC100128988,
LOC100129034,
SEMA3F-AS1,
UNQ6494,
LOC100129115,
KHDC1L,
LOC100129175,
MATN1-AS1,
SLC39A12-AS1,
LOC100129297,
LOC100129312,
LINC00484,
LOC100129397,
LOC100129406,
DDC-AS1,
LOC100129434,
LOC100129447,
LOC100129455,
LYRM4-AS1,
ZNF37BP,
LOC100129516,
LOC100129518,
LOC100129540,
LOC100129572,
FAM47E,
LOC100129620,
LOC100129648,
C9orf173-AS1,
LOC100129775,
SLC25A21-AS1,
PCOLCE-AS1,
SCOC-AS1,
LOC100129884,
LOC100129894,
LOC100129917,
LOC100129935,
LOC100130078,
LOC100130111,
MAPT-IT1,
MIR124-2HG
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员