HMX1 - H6 family homeobox 1-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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3166 HMX1

基因描述

Type	Description
Definition	H6 family homeobox 1

研究结论

Date	Results	Publications
2019-03-16 11:26:00	Mutation analysis revealed a novel homozygous nonsense mutation c.487G>T in the second exon of the HMX1 that predicted to introduce a premature stop codon at position 163 (p.E163*).	29140751
2011-07-30 10:37:00	The retinal degeneration in the recessively inherited oculo-auricular syndrome is a progressive rod-cone dystrophy.	21417677
2010-01-21 00:00:00	Linkage analysis and mutation screening revealed in the first exon of the NKX5-3 gene a homozygous 26 nucleotide deletion, generating a truncating protein that lacked the complete homeodomain.	18423520

名称对应

Type	IDs
Synonymous	H6, NKX5-3
Gene	UniProtKB-ID: HMX1_HUMAN, F1T0J4_HUMAN UniprotKB: Q9NP08, F1T0J4 UniParc: UPI0002003FE4, UPI00004804DE EMBL: AB593128, AC116612, M99587 Ensembl: ENSG00000288204, ENSG00000215612 KO: hsa:3166
Nucleutide sequences	EMBL-CDS: AAF70205.1, BAJ84068.1 Ensembl_TRS: ENST00000673238, ENST00000400677, ENST00000506970
Protein sequencees	Ensembl_PRO: ENSP00000383516, ENSP00000499825, ENSP00000446997 RefSeq: NP_001293071.1, NP_061815.2
Others	UniRef100: UniRef100_F1T0J4, UniRef100_Q9NP08 UniRef90: UniRef90_F1T0J4, UniRef90_Q9NP08 UniRef50: UniRef50_Q9NP08, UniRef50_F1T0J4 UniGene: Hs.104134 CCDS: CCDS47018.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
30862715	Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Cancer Res. Changlong Liu , Carolyn E Banister , Phillip J Buckhaults	2019-05-01	-
29140751	Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation. Ophthalmic Genet. Ghada M H Abdel-Salam , Mohamed S Abdel-Hamid , Mennat I Mehrez , Ahmad M Kamal , Mohamed B Taher , Hanan H Afifi	2018-04-01	-
28473536	Impact of cytosine methylation on DNA binding specificities of human transcription factors. Science Yimeng Yin , Ekaterina Morgunova , Arttu Jolma , Eevi Kaasinen , Biswajyoti Sahu , Syed Khund-Sayeed , Pratyush K Das , Teemu Kivioja , Kashyap Dave , Fan Zhong , Kazuhiro R Nitta , Minna Taipale , Alexander Popov , Paul A Ginno , Silvia Domcke , Jian Yan , Dirk SchÃ¼beler , Charles Vinson , Jussi Taipale	2017-05-05	-
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	-
21697133	Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. Invest. Ophthalmol. Vis. Sci. Mio Oshikawa , Chihiro Tsutsui , Tomoko Ikegami , Yuki Fuchida , Maki Matsubara , Shigeru Toyama , Ron Usami , Kuniyo Ohtoko , Seishi Kato	2011-08-01	LOC100132249, OTX2-AS1, MIR181A2HG, PRH1-PRR4, LINC01311, LOC100652758, HP11026, RBSG2, LINC01023, HP09025, LINC01563, PANO1, LOC101928120, LINC01363, PIGBOS1, LOC101929185, DISC1FP1, HP09053, ANGPTL7, LINC01053, LOC102723665, HP11014, HP08777, CPLX1, DIAPH2-AS1, SRCAP, CEP250, ADD2, LYPD2, CRABP1, CRABP2, FAM78B, AANAT, DDX1, DMXL1, AGL, DSP, ATOH7, FLNA, MAPK8IP3, PSME4, PDS5A, KPNA6, AIPL1, VAX2, ZNF385A, LTN1, PRPF31, GNB3, GOLGB1, BLOC1S2, RCOR2, LINC00907, RAX, HMX1, DDX51, TLX2, CPLX4, ATXN1L, EYS, OTOP3, DPP10-AS1, ARHGDIG, AMTN, MAB21L1, MAK, MATK, MLLT4, MYH10, NEUROD1, NEUROG1, NRL, NUMA1, OTX2, PAX6, IMPG2, PDE6A, CABP2, NBAS, SERPINF1, KIF1A, FAM208B, PRH1, C14orf132, ANO2, RALGAPB, JPH3, KIDINS220, DISP3, PTPRF, RBP3, RCVRN, RXRG, LOC645967, ISL2, SLC1A7, BRCA1, TULP1, CAD
21417677	Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation. Ophthalmic Genet V Vaclavik , D F Schorderet , F-X Borruat , F L Munier	2011-06-01	-
19274049	A census of human transcription factors: function, expression and evolution. Nat Rev Genet Juan M Vaquerizas , Sarah K Kummerfeld , Sarah A Teichmann , Nicholas M Luscombe	2009-04-01	-
18976975	Genome-scale RNAi screen for host factors required for HIV replication. Cell Host Microbe Honglin Zhou , Min Xu , Qian Huang , Adam T Gates , Xiaohua D Zhang , John C Castle , Erica Stec , Marc Ferrer , Berta Strulovici , Daria J Hazuda , Amy S Espeseth	2008-11-13	-
18423520	Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. Am J Hum Genet Daniel F Schorderet , Olivia Nichini , GaÃ«lle Boisset , Bozena Polok , Leila Tiab , HÃ©lÃ¨ne Mayeur , Bahija Raji , Gauillaume de la Houssaye , Marc M Abitbol , Francis L Munier	2008-05-01	-
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	-

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