Type | Description |
---|---|
Definition | ferric chelate reductase 1 like |
Date | Results | Publications |
---|---|---|
2017-05-13 14:30:00 | Loss-of-Function Mutations in FRRS1L gene is associated with Epileptic-Dyskinetic Encephalopathy. | 27236917 |
Type | IDs |
---|---|
Synonymous | C9orf4, CG-6, CG6, EIEE37 |
Gene |
UniProtKB-ID:
FRS1L_HUMAN
UniprotKB:
Q9P0K9
UniParc:
UPI000013D040
EMBL:
AF155065,
AL358815
Ensembl:
ENSG00000260230
KO:
hsa:23732
|
Nucleutide sequences |
EMBL-CDS:
AAF28159.1
Ensembl_TRS:
ENST00000561981
|
Protein sequencees |
Ensembl_PRO:
ENSP00000477141
RefSeq:
XP_011516756.1,
NP_055149.3
|
Others |
UniRef100:
UniRef100_Q9P0K9
UniRef90:
UniRef90_Q9P0K9
UniRef50:
UniRef50_Q9P0K9
UniGene:
Hs.347537
|
{{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 |
---|---|---|---|
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 | - |
27236917 |
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Am J Hum Genet Marianna Madeo , Michelle Stewart , Yuyang Sun , Nadia Sahir , Sarah Wiethoff , Indra Chandrasekar , Anna Yarrow , Jill A Rosenfeld , Yaping Yang , Dawn Cordeiro , Elizabeth M McCormick , Colleen C Muraresku , Tyler N Jepperson , Lauren J McBeth , Mohammed Zain Seidahmed , Heba Y El Khashab , Muddathir Hamad , Hamid Azzedine , Karl Clark , Silvia Corrochano , Sara Wells , Mariet W Elting , Marjan M Weiss , Sabrina Burn , Angela Myers , Megan Landsverk , Patricia L Crotwell , Quinten Waisfisz , Nicole I Wolf , Patrick M Nolan , Sergio Padilla-Lopez , Henry Houlden , Richard Lifton , Shrikant Mane , Brij B Singh , Marni J Falk , Saadet Mercimek-Mahmutoglu , Kaya Bilguvar , Mustafa A Salih , Abraham Acevedo-Arozena , Michael C Kruer |
2016-06-02 | - |
27239025 |
Clin. Genet. R Shaheen , S Al Tala , N Ewida , M Abouelhoda , F S Alkuraya |
2016-05-30 | - |
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 | - |
15164053 |
DNA sequence and analysis of human chromosome 9. Nature S J Humphray , K Oliver , A R Hunt , R W Plumb , J E Loveland , K L Howe , T D Andrews , S Searle , S E Hunt , C E Scott , M C Jones , R Ainscough , J P Almeida , K D Ambrose , R I S Ashwell , A K Babbage , S Babbage , C L Bagguley , J Bailey , R Banerjee , D J Barker , K F Barlow , K Bates , H Beasley , O Beasley , C P Bird , S Bray-Allen , A J Brown , J Y Brown , D Burford , W Burrill , J Burton , C Carder , N P Carter , J C Chapman , Y Chen , G Clarke , S Y Clark , C M Clee , S Clegg , R E Collier , N Corby , M Crosier , A T Cummings , J Davies , P Dhami , M Dunn , I Dutta , L W Dyer , M E Earthrowl , L Faulkner , C J Fleming , A Frankish , J A Frankland , L French , D G Fricker , P Garner , J Garnett , J Ghori , J G R Gilbert , C Glison , D V Grafham , S Gribble , C Griffiths , S Griffiths-Jones , R Grocock , J Guy , R E Hall , S Hammond , J L Harley , E S I Harrison , E A Hart , P D Heath , C D Henderson , B L Hopkins , P J Howard , P J Howden , E Huckle , C Johnson , D Johnson , A A Joy , M Kay , S Keenan , J K Kershaw , A M Kimberley , A King , A Knights , G K Laird , C Langford , S Lawlor , D A Leongamornlert , M Leversha , C Lloyd , D M Lloyd , J Lovell , S Martin , M Mashreghi-Mohammadi , L Matthews , S McLaren , K E McLay , A McMurray , S Milne , T Nickerson , J Nisbett , G Nordsiek , A V Pearce , A I Peck , K M Porter , R Pandian , S Pelan , B Phillimore , S Povey , Y Ramsey , V Rand , M Scharfe , H K Sehra , R Shownkeen , S K Sims , C D Skuce , M Smith , C A Steward , D Swarbreck , N Sycamore , J Tester , A Thorpe , A Tracey , A Tromans , D W Thomas , M Wall , J M Wallis , A P West , S L Whitehead , D L Willey , S A Williams , L Wilming , P W Wray , L Young , J L Ashurst , A Coulson , H Blöcker , R Durbin , J E Sulston , T Hubbard , M J Jackson , D R Bentley , S Beck , J Rogers , I Dunham |
2004-05-27 |
LINC00476,
C9orf92,
IZUMO3,
FAM205C,
FAM157B,
FAM27C,
FAM27B,
GNE,
LOC100288842,
FAM27E2,
SH2D3C,
CCDC180,
TMEM210,
FAM74A7,
RCL1,
PRR31,
TOPORS,
RABEPK,
CDK9,
SIGMAR1,
CDKN2A,
CDKN2B,
UBAC1,
ZER1,
SEMA4D,
ANP32B,
SPTLC1,
RRAGA,
ACTL7B,
ACTL7A,
SPIN1,
SEC61B,
SLC27A4,
SPACA9,
ADAMTS13,
CACFD1,
INSL6,
SLC2A6,
RPL35,
MAN1B1,
DCTN3,
KIF12,
PALM2,
UHRF2,
FAM122A,
CLTA,
COL5A1,
COL15A1,
NACC2,
C9orf116,
CARNMT1,
C9orf57,
C9orf85,
C9orf135,
LCN8,
ANKRD19P,
RPP25L,
OR13C5,
OR13C8,
OR13C3,
OR13C4,
OR13F1,
TRPM6,
CTSV,
RNF38,
GLIPR2,
DAB2IP,
CYLC2,
C9orf66,
NXNL2,
TTLL11,
FAM201A,
TTC16,
SAXO1,
FREM1,
KIAA2026,
C9orf84,
KIAA1958,
TSTD2,
PRUNE2,
BRINP1,
DBH,
STKLD1,
KCNV2,
TMEM252,
QSOX2,
ZNF883,
DMRT1,
ECM2,
TOR1A,
MEGF9,
AAED1,
ELAVL2,
C9orf72,
CCDC171,
NAIF1,
FAM219A,
CCDC107,
ANKS6
|
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
|
12477932 |
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. Robert L Strausberg , Elise A Feingold , Lynette H Grouse , Jeffery G Derge , Richard D Klausner , Francis S Collins , Lukas Wagner , Carolyn M Shenmen , Gregory D Schuler , Stephen F Altschul , Barry Zeeberg , Kenneth H Buetow , Carl F Schaefer , Narayan K Bhat , Ralph F Hopkins , Heather Jordan , Troy Moore , Steve I Max , Jun Wang , Florence Hsieh , Luda Diatchenko , Kate Marusina , Andrew A Farmer , Gerald M Rubin , Ling Hong , Mark Stapleton , M Bento Soares , Maria F Bonaldo , Tom L Casavant , Todd E Scheetz , Michael J Brownstein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Christa Prange , Sam S Raha , Naomi A Loquellano , Garrick J Peters , Rick D Abramson , Sara J Mullahy , Stephanie A Bosak , Paul J McEwan , Kevin J McKernan , Joel A Malek , Preethi H Gunaratne , Stephen Richards , Kim C Worley , Sarah Hale , Angela M Garcia , Laura J Gay , Stephen W Hulyk , Debbie K Villalon , Donna M Muzny , Erica J Sodergren , Xiuhua Lu , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madan , Alice C Young , Yuriy Shevchenko , Gerard G Bouffard , Robert W Blakesley , Jeffrey W Touchman , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Martin I Krzywinski , Ursula Skalska , Duane E Smailus , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Marco A Marra , Mammalian Gene Collection Program Team |
2002-12-24 | - |
10603000 |
Mamm. Genome B P Chadwick , M Leyne , S Gill , C B Liebert , J Mull , E Mezey , C M Robbins , H W Pinkett , I Makalowska , C Maayan , A Blumenfeld , F B Axelrod , M Brownstein , J F Gusella , S A Slaugenhaupt |
2000-01-01 | - |
9110174 |
Large-scale concatenation cDNA sequencing. Genome Res. W Yu , B Andersson , K C Worley , D M Muzny , Y Ding , W Liu , J Y Ricafrente , M A Wentland , G Lennon , R A Gibbs |
1997-04-01 | - |
8619474 |
A "double adaptor" method for improved shotgun library construction. Anal. Biochem. B Andersson , M A Wentland , J Y Ricafrente , W Liu , R A Gibbs |
1996-04-05 |
AKT3,
LOC100129973,
PP14571,
LOC100131510,
SH3RF3-AS1,
ZNF783,
RBFADN,
LOC100506472,
LINC01007,
LOC100506639,
LOC100507424,
ABCB6,
LINC00563,
ARPC1B,
LRPPRC,
PDIA6,
OPTN,
PLXNC1,
WASF2,
CASC20,
RNF41,
CDK4,
STX6,
ATP8A1,
RAPGEF3,
UBAC1,
LYPLA1,
OLFM1,
CARM1,
SEMA6C,
DDX17,
LOC105377443,
AGPAT1,
STAMBP,
FAM189B,
AHCYL1,
SRSF10,
ADCY2,
MALT1,
JTB,
RUNDC3A,
MORF4L1,
EHD1,
YWHAQ,
FAM107A,
DDX20,
PACSIN2,
ATXN2L,
LARP4,
EXOC3,
RNF13,
MGLL,
OSBPL11,
MARCH3,
KCTD12,
CLCN4,
C14orf79,
SPATA2L,
ALDH16A1,
MBOAT2,
COX4I1,
COX11,
CPD,
UBXN2B,
RALYL,
CRYAB,
HECTD2,
CSK,
SLC38A6,
CSNK1G2,
BEAN1,
TOM1L2,
B3GNTL1,
WIPF2,
TICAM1,
C19orf25,
ZNF555,
NBPF12,
CNIH3,
CTNND2,
SPICE1,
LOC155060,
ANKRD46,
LINC00599,
CD55,
DBP,
PLPPR5,
DFNA5,
ABHD3,
DHPS,
DIAPH1,
DIO2,
DNM1,
DOK1,
RCAN1,
TSC22D3,
DTNB,
EIF4A1,
TXLNA
|
排名 | 科研单位 | 文献 |
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