| Type | Description |
|---|---|
| Definition | regulatory factor X6 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-26 13:15:00 | Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6. | 33033118 |
| 2018-03-03 11:51:00 | RFX6 heterozygous protein truncating variants cause reduced penetrance maturity-onset diabetes of the young (MODY). | 29026101 |
| 2016-10-22 10:42:00 | study reports two individuals each with compound heterozygous RFX6 nonsense mutations and an intestinal phenotype consistent with Mitchell-Riley syndrome, but with onset of diabetes in childhood rather than in the first 2 weeks of life | 26264437 |
| 2016-01-16 11:25:00 | association of the THADA, FOXP4, GPRC6A/RFX6 and 8q24 genes with prostate cancer in Asian populations. | 26537068 |
| 2015-07-25 10:36:00 | RFX6 controls insulin gene transcription, insulin content, and secretion by regulation of Ca(2+)-channel genes. | 25497100 |
| Type | IDs |
|---|---|
| Synonymous | MTCHRS, MTFS, RFXDC1, dJ955L16.1 |
| Gene |
UniProtKB-ID:
RFX6_HUMAN
UniprotKB:
Q8HWS3
UniParc:
UPI00001609BE
EMBL:
CH471051,
BC039248,
AL355272
Ensembl:
ENSG00000185002
KO:
hsa:222546
|
| Nucleutide sequences |
EMBL-CDS:
EAW48213.1,
AAH39248.1
Ensembl_TRS:
ENST00000332958
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000332208
RefSeq:
XP_011533891.1,
XP_016865966.1,
NP_775831.2
|
| Others |
UniRef100:
UniRef100_Q8HWS3
UniRef90:
UniRef90_Q8HWS3
UniRef50:
UniRef50_Q8HWS3
UniGene:
Hs.352276
CCDS:
CCDS5113.1
|
| {{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 |
|---|---|---|---|
| 33033118 |
Development Jamie Trott , Yunus Alpagu , Ee Kim Tan , Mohammad Shboul , Yousif Dawood , Michael Elsy , Heike Wollmann , Vincent Tano , Carine Bonnard , Shermaine Eng , Gunaseelan Narayanan , Seetanshu Junnarkar , Stephen Wearne , James Strutt , Aakash Kumar , Lucian B Tomaz , Pierre-Alexis Goy , Slim Mzoughi , Rachel Jennings , Jaco Hagoort , Ascia Eskin , Hane Lee , Stanley F Nelson , Fawaz Al-Kazaleh , Mohammad El-Khateeb , Rajaa Fathallah , Harsha Shah , Jonathan Goeke , Sarah R Langley , Ernesto Guccione , Neil Hanley , Bernadette S De Bakker , Bruno Reversade , N Ray Dunn |
2020-11-05 | - |
| 32296183 |
A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G Coté , Meaghan Daley , Steven Deimling , Alice Desbuleux , Amélie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , István A Kovács , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood |
2020-04-01 | - |
| 29026101 |
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun Kashyap A Patel , Jarno Kettunen , Markku Laakso , Alena StanÄáková , Thomas W Laver , Kevin Colclough , Matthew B Johnson , Marc Abramowicz , Leif Groop , Päivi J Miettinen , Maggie H Shepherd , Sarah E Flanagan , Sian Ellard , Nobuya Inagaki , Andrew T Hattersley , Tiinamaija Tuomi , Miriam Cnop , Michael N Weedon |
2017-10-12 | - |
| 26871637 |
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. Cell Xinping Yang , Jasmin Coulombe-Huntington , Shuli Kang , Gloria M Sheynkman , Tong Hao , Aaron Richardson , Song Sun , Fan Yang , Yun A Shen , Ryan R Murray , Kerstin Spirohn , Bridget E Begg , Miquel Duran-Frigola , Andrew MacWilliams , Samuel J Pevzner , Quan Zhong , Shelly A Trigg , Stanley Tam , Lila Ghamsari , Nidhi Sahni , Song Yi , Maria D Rodriguez , Dawit Balcha , Guihong Tan , Michael Costanzo , Brenda Andrews , Charles Boone , Xianghong J Zhou , Kourosh Salehi-Ashtiani , Benoit Charloteaux , Alyce A Chen , Michael A Calderwood , Patrick Aloy , Frederick P Roth , David E Hill , Lilia M Iakoucheva , Yu Xia , Marc Vidal |
2016-02-11 |
USH1C,
PQBP1,
OPTN,
RBM5,
CDK5,
CDK7,
RABEPK,
SRRM1,
NOD1,
CD2BP2,
RBM14,
HAX1,
SLC30A9,
STK25,
SEMA4F,
SLC19A2,
CETP,
SRSF10,
SEPT9,
ALDH1L1,
RCC1,
LDB3,
AKAP10,
SEC63,
PHF21B,
HELQ,
CKB,
ERCC8,
CLCN2,
ZFYVE27,
CLPTM1,
TTC8,
C15orf40,
COL1A2,
BBS5,
ACMSD,
DNAJC19,
CPA2,
C7orf34,
CRH,
CRK,
RDH12,
MIPOL1,
ZNF688,
SLC25A10,
NKX2-5,
CTNS,
CTSD,
UPP2,
CYBB,
CYP11A1,
TSTD2,
DAO,
REM2,
DYX1C1,
DCN,
DDC,
GLIS3,
DGUOK,
DHCR7,
DMD,
E2F6,
TYMP,
EGR2,
FLCN,
EPHX1,
EYA4,
ETFA,
ETV6,
FANCC,
FANCG,
EFEMP1,
MICU2,
ZUFSP,
FCGR3A,
ABCB7,
FGA,
FGFR1,
FH,
DOLK,
KIAA0907,
ARHGEF15,
SETX,
ARHGAP26,
SPG20,
FMO3,
ETHE1,
SLC39A14,
CDK20,
SMUG1,
FXN,
FTSJ1,
MCM9,
GABRA2,
GAD1,
SUMF2,
GALT,
UNC50,
FBXO8
|
| 26264437 |
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur. J. Hum. Genet. Francis H Sansbury , Birgül Kirel , Richard Caswell , Hana Lango Allen , Hana Lango Allen , Sarah E Flanagan , Andrew T Hattersley , Sian Ellard , Charles J Shaw-Smith |
2015-12-01 | - |
| 25497100 |
RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells. Cell Rep Vikash Chandra , Olivier Albagli-Curiel , Benoit Hastoy , Julie Piccand , Clotilde Randriamampita , Emmanuel Vaillant , Hélène Cavé , Kanetee Busiah , Philippe Froguel , Martine Vaxillaire , Patrik Rorsman , Michel Polak , Raphael Scharfmann |
2014-12-24 | - |
| 25416956 |
A proteome-scale map of the human interactome network. Cell Thomas Rolland , Murat TaÅan , Benoit Charloteaux , Samuel J Pevzner , Quan Zhong , Nidhi Sahni , Song Yi , Irma Lemmens , Celia Fontanillo , Roberto Mosca , Atanas Kamburov , Susan D Ghiassian , Xinping Yang , Lila Ghamsari , Dawit Balcha , Bridget E Begg , Pascal Braun , Marc Brehme , Martin P Broly , Anne-Ruxandra Carvunis , Dan Convery-Zupan , Roser Corominas , Jasmin Coulombe-Huntington , Elizabeth Dann , Matija Dreze , Amélie Dricot , Changyu Fan , Eric Franzosa , Fana Gebreab , Bryan J Gutierrez , Madeleine F Hardy , Mike Jin , Shuli Kang , Ruth Kiros , Guan Ning Lin , Katja Luck , Andrew MacWilliams , Jörg Menche , Ryan R Murray , Alexandre Palagi , Matthew M Poulin , Xavier Rambout , John Rasla , Patrick Reichert , Viviana Romero , Elien Ruyssinck , Julie M Sahalie , Annemarie Scholz , Akash A Shah , Amitabh Sharma , Yun Shen , Kerstin Spirohn , Stanley Tam , Alexander O Tejeda , Shelly A Trigg , Jean-Claude Twizere , Kerwin Vega , Jennifer Walsh , Michael E Cusick , Yu Xia , Albert-László Barabási , Lilia M Iakoucheva , Patrick Aloy , Javier De Las Rivas , Jan Tavernier , Michael A Calderwood , David E Hill , Tong Hao , Frederick P Roth , Marc Vidal |
2014-11-20 | - |
| 24390282 |
Nat. Genet. Qilai Huang , Thomas Whitington , Ping Gao , Johan F Lindberg , Yuehong Yang , Jielin Sun , Marja-Riitta Väisänen , Robert Szulkin , Matti Annala , Jian Yan , Lars A Egevad , Kai Zhang , Ruizhu Lin , Arttu Jolma , Matti Nykter , Aki Manninen , Fredrik Wiklund , Markku H Vaarala , Tapio Visakorpi , Jianfeng Xu , Jussi Taipale , Gong-Hong Wei |
2014-02-01 | - |
| 24722188 |
Nat Commun Roser Corominas , Xinping Yang , Guan Ning Lin , Shuli Kang , Yun Shen , Lila Ghamsari , Martin Broly , Maria Rodriguez , Stanley Tam , Shelly A Trigg , Changyu Fan , Song Yi , Murat Tasan , Irma Lemmens , Xingyan Kuang , Nan Zhao , Dheeraj Malhotra , Jacob J Michaelson , Vladimir Vacic , Michael A Calderwood , Frederick P Roth , Jan Tavernier , Steve Horvath , Kourosh Salehi-Ashtiani , Dmitry Korkin , Jonathan Sebat , David E Hill , Tong Hao , Marc Vidal , Lilia M Iakoucheva |
2014-01-01 |
ADA,
CDH9,
CDH10,
TRIM10,
SORBS3,
PSME3,
CALCOCO2,
SPRY2,
EFS,
IKZF1,
CDR2,
NDC80,
TACC3,
CDX4,
ZBTB18,
NEBL,
SPAG5,
RBCK1,
RAI2,
VAMP5,
CPLX1,
RCBTB2,
RBPMS,
MID2,
RAPGEF4,
KLF12,
EXOSC8,
DTX2,
GALNT13,
GPRASP2,
CMTM5,
AGAP1,
RAB3IP,
SSX2IP,
PIH1D2,
RHEBL1,
PRR20A,
FSD2,
ADORA2A,
FUNDC1,
PTCHD1,
CRMP1,
CRX,
NOL4L,
DYDC1,
MIPOL1,
MGAT5B,
CTBP1,
CTBP2,
TTC23L,
ADRB2,
AMOT,
ADSL,
SAXO1,
CCDC67,
DAB1,
DAO,
OTUD7A,
MARCH10,
AP2B1,
AES,
TXLNB,
FAM9B,
DHCR7,
DHPS,
SEPT1,
DLG2,
DLX1,
DLX2,
DMPK,
DPYD,
DPYSL2,
DRD3,
ABAT,
EDA,
EIF4E,
EIF4EBP1,
EIF4EBP2,
TXLNA,
ERBB2,
ESR2,
SPERT,
REEP3,
EEF1AKMT1,
RFX6,
FGFR3,
FHIT,
IKZF3,
IKZF2,
NTNG1,
ZBTB1,
FAN1,
RPIA,
SWAP70,
SEPT6,
CEP68,
CYFIP1,
GSE1,
FAM168A
|
| 23803082 |
Susceptibility loci associations with prostate cancer risk in northern Chinese men. Asian Pac. J. Cancer Prev. Na-Na Wang , Yong Xu , Kuo Yang , Dong Wei , Yao-Guang Zhang , Ming Liu , Xiao-Hong Shi , Si-Ying Liang , Liang Sun , Xiao-Quan Zhu , Yi-Ge Yang , Lei Tang , Cheng-Xiao Zhao , Xin Wang , Xin Chen , Juan Hui , Yu-Hong Zhang , Ling Zhu , Fan Yang , Yu-Rong Zhang , Ze Yang , Jian-Ye Wang |
2013-01-01 | - |
| 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