Type | Description |
---|---|
Definition | RasGEF domain family member 1A |
Date | Results | Publications |
---|---|---|
2010-01-21 00:00:00 | analyzed residues that allow RasGEF1 proteins to discriminate between Rap1 and Rap2, and identified Phe39 in the switch I region of Rap2 as a specificity residue. | 19645719 |
Type | IDs |
---|---|
Synonymous | CG4853 |
Gene |
UniProtKB-ID:
RGF1A_HUMAN
UniprotKB:
Q8N9B8
UniParc:
UPI000006E6F9,
UPI00002289AF
EMBL:
BC022548,
AK095136
Ensembl:
ENSG00000198915
KO:
hsa:221002
|
Nucleutide sequences |
EMBL-CDS:
AAH22548.2,
BAC04491.1
Ensembl_TRS:
ENST00000395810,
ENST00000395809,
ENST00000374459
|
Protein sequencees |
Ensembl_PRO:
ENSP00000379154,
ENSP00000379155,
ENSP00000363583
RefSeq:
XP_011537802.1,
NP_001269791.1,
XP_005271866.1,
NP_660356.2
|
Others |
UniRef100:
UniRef100_Q8N9B8
UniRef90:
UniRef90_Q8N9B8
UniRef50:
UniRef50_Q8N9B8
UniGene:
Hs.125293
CCDS:
CCDS60517.1,
CCDS7202.2
|
{{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 |
---|---|---|---|
25310821 |
A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease. PLoS ONE Jeong-Hyun Kim , Hyun Sub Cheong , Jae Hoon Sul , Jeong-Meen Seo , Dae-Yeon Kim , Jung-Tak Oh , Kwi-Won Park , Hyun-Young Kim , Soo-Min Jung , Kyuwhan Jung , Min Jeng Cho , Joon Seol Bae , Hyoung Doo Shin |
2014-01-01 |
DEFB129,
RASGEF1A,
NRG1,
SLC6A20,
CSGALNACT2,
STIM2,
RET
|
24478790 |
Front Genet Joseph H Lee , Rong Cheng , Lawrence S Honig , Mary Feitosa , Candace M Kammerer , Min S Kang , Nicole Schupf , Shiow J Lin , Jason L Sanders , Harold Bae , Todd Druley , Thomas Perls , Kaare Christensen , Michael Province , Richard Mayeux |
2013-01-01 | - |
23251661 |
PLoS One Anthony G Comuzzie , Shelley A Cole , Sandra L Laston , V Saroja Voruganti , Karin Haack , Richard A Gibbs , Nancy F Butte |
2012-01-01 | - |
19645719 |
FEBS J. Elif Yaman , Raphael Gasper , Carolin Koerner , Alfred Wittinghofer , Uygar H Tazebay |
2009-08-01 |
RASGEF1B,
RASGEF1A,
RAP2A
|
19196962 |
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Proc. Natl. Acad. Sci. U.S.A. Maria-Mercè Garcia-Barcelo , Clara Sze-Man Tang , Elly Sau-Wai Ngan , Vincent Chi-Hang Lui , Yan Chen , Man-Ting So , Thomas Yuk-Yu Leon , Xiao-Ping Miao , Cathy Ka-Yee Shum , Feng-Qin Liu , Ming-Yiu Yeung , Zhen-Wei Yuan , Wei-Hong Guo , Lei Liu , Xiao-Bing Sun , Liu-Ming Huang , Jin-Fa Tou , You-Qiang Song , Danny Chan , Kenneth M C Cheung , Kenneth Kak-Yuen Wong , Stacey S Cherny , Pak-Chung Sham , Paul Kwong-Hang Tam |
2009-02-24 |
RASGEF1A,
NRG1,
CSGALNACT2,
RET
|
19953087 |
Mol. Syst. Biol. Avinash Persaud , Philipp Alberts , Eva M Amsen , Xuejian Xiong , James Wasmuth , Zachary Saadon , Chris Fladd , John Parkinson , Daniela Rotin |
2009-01-01 |
Nedd4,
Nedd4l,
Acvr1b,
Cacnb1,
AKT3,
TOM1,
SGK2,
CDK3,
CDK5,
UBAC1,
BAIAP2,
MERTK,
STK25,
SIVA1,
RBCK1,
RAD51AP1,
CAMKK2,
MAP3K2,
PLK2,
SEPT9,
MAP4K5,
PRRT2,
SAAL1,
CLIC2,
CLK3,
MOB3A,
GRK7,
MAP3K8,
SPANXN3,
TCP10L,
TCEAL2,
CSNK2A1,
BEAN1,
TOM1L2,
DIRAS1,
GRK2,
DAPK3,
TCEANC,
ACAN,
EGFR,
EIF5,
MARK2,
DMTN,
EPHA5,
AKT1,
RASGEF1A,
FES,
FGF12,
FGFR1,
FGFR2,
FKBP3,
UBOX5,
RTF1,
FLT1,
SULF1,
FLT4,
NEDD4L,
WBP2,
ABL1,
FYN,
DECR2,
SPAG8,
FGF21,
GBA,
TIMM10,
RNF11,
AMPD2,
ABL2,
APEX2,
ZADH2,
GRK4,
TBK1,
EFEMP2,
H1F0,
SERPIND1,
ANKRD13D,
AQP9,
IRS1,
KCNB1,
KIFC3,
CUEDC1,
SMAD3,
MAGEB1,
MAP2,
MAP3K3,
MAP3K5,
NEDD4,
NTRK1,
NTRK2,
MINK1,
TBC1D7,
ZDHHC3,
PRR16,
PDGFRA,
PDGFRB,
LUC7L2,
SERPINF1,
STK26,
ZAK
|
17121879 |
Clin. Cancer Res. Katsuaki Ura , Kazutaka Obama , Seiji Satoh , Yoshiharu Sakai , Yusuke Nakamura , Yoichi Furukawa |
2006-11-15 |
RASGEF1A
|
15759212 |
Identifying candidate Hirschsprung disease-associated RET variants. Am J Hum Genet Grzegorz M Burzynski , Ilja M Nolte , Agnes Bronda , Krista K Bos , Jan Osinga , Ivan Plaza Menacho , Bas Twigt , Saskia Maas , Alice S Brooks , Joke B G M Verheij , Charles H C M Buys , Robert M W Hofstra |
2005-05-01 | - |
15829955 |
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature Eileen Sproat Emison , Andrew S McCallion , Carl S Kashuk , Richard T Bush , Elizabeth Grice , Shin Lin , Matthew E Portnoy , David J Cutler , Eric D Green , Aravinda Chakravarti |
2005-04-14 |
ret,
RASGEF1A,
RET
|
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
|
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