| Type | Description |
|---|---|
| Definition | terminal nucleotidyltransferase 5A |
| Date | Results | Publications |
|---|---|---|
| 2019-09-21 10:04:00 | We conclude that FAM46A mutations are responsible for a severe form of osteogenesis imperfecta (OI) with congenital bowing of the lower limbs and suggest screening this gene in unexplained OI forms. | 29358272 |
| 2018-10-06 10:49:00 | By functional analysis based on a set of 1129 proteins from 494 obese subjects study identified and validated FAM46A as a trans regulator for leptin. | 29234017 |
| 2017-10-07 11:44:00 | This exploratory genome-wide association studies confirmed APOE and identified the novel loci: rs72907046 near FAM46A (P = 1 x 10(-9) OR = 3.2 [2.1-4.9]). | 26993346 |
| 2016-01-30 11:46:00 | VNTR in the coding region of the FAM46A gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP are associated with susceptibility to tuberculosis | 24625963 |
| 2016-01-16 11:22:00 | Genotype frequencies of cd (four and five VNTR repeats) and cc (four VNTR repeats homozygote) of the FAM46A gene were significantly decreased in the patients compared to the healthy controls in the Croatian and Norwegian subjects | 25884493 |
| Type | IDs |
|---|---|
| Synonymous | C6orf37, FAM46A, OI18, XTP11 |
| Gene |
UniProtKB-ID:
TET5A_HUMAN
UniprotKB:
Q96IP4
UniParc:
UPI000006E9BA,
UPI0000470A11
EMBL:
AY740520,
BC000683,
AL078599,
AK000044,
AK056057,
AK292109,
BC007351,
AF350451,
CH471051
Ensembl:
ENSG00000112773
KO:
hsa:55603
|
| Nucleutide sequences |
EMBL-CDS:
BAF84798.1,
EAW48692.1,
AAM53071.1,
AAH07351.1,
AAW66943.1,
AAH00683.1,
BAA90903.1
Ensembl_TRS:
ENST00000369754,
ENST00000320172
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000318298,
ENSP00000358769
RefSeq:
NP_060103.2
|
| Others |
UniRef100:
UniRef100_Q96IP4
UniRef90:
UniRef90_Q96IP4
UniRef50:
UniRef50_Q96IP4
UniGene:
Hs.10784
CCDS:
CCDS34489.1
|
| {{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 |
|---|---|---|---|
| 32814053 |
Cell Rep Christian Haenig , Nir Atias , Alexander K Taylor , Arnon Mazza , Martin H Schaefer , Jenny Russ , Sean-Patrick Riechers , Shushant Jain , Maura Coughlin , Jean-Fred Fontaine , Brian D Freibaum , Lydia Brusendorf , Martina Zenkner , Pablo Porras , Martin Stroedicke , Sigrid Schnoegl , Kristin Arnsburg , Annett Boeddrich , Lucia Pigazzini , Peter Heutink , J Paul Taylor , Janine Kirstein , Miguel A Andrade-Navarro , Roded Sharan , Erich E Wanker |
2020-08-18 | - |
| 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 | - |
| 29358272 |
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. J Med Genet Mathilde Doyard , Séverine Bacrot , Céline Huber , Maja Di Rocco , Alice Goldenberg , Mona S Aglan , Perrine Brunelle , Samia Temtamy , Caroline Michot , Ghada A Otaify , Coralie Haudry , Mireille Castanet , Julien Leroux , Jean-Paul Bonnefont , Arnold Munnich , Geneviève Baujat , Pablo Lapunzina , Sophie Monnot , Victor L Ruiz-Perez , Valérie Cormier-Daire |
2018-04-01 | - |
| 29234017 |
Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator. Nat Commun Jérôme Carayol , Christian Chabert , Alessandro Di Cara , Claudia Armenise , Gregory Lefebvre , Dominique Langin , Nathalie Viguerie , Sylviane Metairon , Wim H M Saris , Arne Astrup , Patrick Descombes , Armand Valsesia , Jörg Hager |
2017-12-12 | - |
| 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 | - |
| 26993346 |
Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease. Alzheimers Dement Jonathan M Schott , Sebastian J Crutch , Minerva M Carrasquillo , James Uphill , Tim J Shakespeare , Natalie S Ryan , Keir X Yong , Manja Lehmann , Nilufer Ertekin-Taner , Neill R Graff-Radford , Bradley F Boeve , Melissa E Murray , Qurat Ul Ain Khan , Ronald C Petersen , Dennis W Dickson , David S Knopman , Gil D Rabinovici , Bruce L Miller , Aida Suárez González , Eulogio Gil-Néciga , Julie S Snowden , Jenny Harris , Stuart M Pickering-Brown , Eva Louwersheimer , Wiesje M van der Flier , Philip Scheltens , Yolande A Pijnenburg , Douglas Galasko , Marie Sarazin , Bruno Dubois , Eloi Magnin , Daniela Galimberti , Elio Scarpini , Stefano F Cappa , John R Hodges , Glenda M Halliday , Lauren Bartley , Maria C Carrillo , Jose T Bras , John Hardy , Martin N Rossor , John Collinge , Nick C Fox , Simon Mead |
2016-08-01 | - |
| 27060136 |
FAM46 proteins are novel eukaryotic non-canonical poly(A) polymerases. Nucleic Acids Res Krzysztof Kuchta , Anna Muszewska , Lukasz Knizewski , Kamil Steczkiewicz , Lucjan S Wyrwicz , Krzysztof Pawlowski , Leszek Rychlewski , Krzysztof Ginalski |
2016-05-05 | - |
| 26496610 |
A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell Marco Y Hein , Nina C Hubner , Ina Poser , Jürgen Cox , Nagarjuna Nagaraj , Yusuke Toyoda , Igor A Gak , Ina Weisswange , Jörg Mansfeld , Frank Buchholz , Anthony A Hyman , Matthias Mann |
2015-10-22 |
Cep85l,
Rcc1,
Zbtb48,
Bsdc1,
Kifc1,
Ccp110,
Ints4,
Slc6a8,
Cenpi,
Nup107,
Xpo1,
Fbxw11,
Tubg1,
Csnk1d,
Bap1,
Ptpn23,
Tecpr2,
Slain1,
Ankrd28,
Prkaa1,
Espl1,
Gbf1,
Cdc20,
Cenpf,
Trip11,
Mbd5,
Kif22,
Dut,
Srsf1,
Actb,
Spred2,
Akt2,
Mta1,
Tgs1,
Pip4k2c,
Ankfy1,
Apc,
Ar,
Rhoa,
Atp2a2,
Atp5a1,
Atp7a,
Cep131,
Bach1,
Bcl7c,
Bmpr1a,
Brca1,
Bub1,
Bub1b,
C1qbp,
Anxa2,
Calu,
Cbx1,
Cbx4,
Cct2,
Cct3,
Cct4,
Cct7,
Cct8,
Cd2ap,
Cdk1,
Cdc37,
Cdh1,
Chek1,
Cit,
Copa,
Crebbp,
Cry1,
Csk,
Smc3,
Dctn1,
Ddb1,
Cdk2ap1,
Mapre1,
Ect2,
Eef1a1,
Eif3a,
Mark2,
Evpl,
Ewsr1,
Wdr5,
Dclre1b,
Fbl,
Fgfr1,
Flot1,
Flot2,
B4galt1,
Gnb1,
Gspt1,
Hdac6,
Herc2,
Hsf1,
Hsph1,
Elavl1,
Id2,
Cyr61,
Cep250,
Insr,
Eif3e
|
| 25814554 |
Phospho-tyrosine dependent protein-protein interaction network. Mol. Syst. Biol. Arndt Grossmann , Nouhad Benlasfer , Petra Birth , Anna Hegele , Franziska Wachsmuth , Luise Apelt , Ulrich Stelzl |
2015-03-01 |
SH2B3,
SH2D3A,
HUWE1,
FSBP,
TSPAN2,
TNK2,
SPRY2,
APBB3,
TRDN,
ANAPC10,
BAIAP2,
ZNHIT1,
SEMA4D,
UBD,
CENPB,
POLR3F,
RAI2,
SDCCAG8,
FRS3,
FRS2,
PGRMC1,
CYP46A1,
ARID5A,
NMU,
RALBP1,
YWHAQ,
LECT1,
CYB561D2,
RCAN3,
CAPN10,
FSTL1,
RASSF1,
CHN2,
TP53RK,
EFHC1,
OSBPL6,
C1QTNF3,
DDIT4L,
FAM46B,
CKM,
TM4SF19,
RBP7,
OLIG1,
CLNK,
SH2D1B,
TWIST2,
ASCL4,
SOCS4,
COX6B2,
GABPB2,
SHE,
VSTM2L,
C22orf39,
PPP1R21,
SCLT1,
PACRGL,
SETD9,
C6orf141,
MAGEC3,
DCAF12L1,
CRK,
CRKL,
CRP,
TCP10L,
ASB8,
ASB9,
CRYBA2,
CSK,
DUSP18,
FAM117B,
PLB1,
IQUB,
WBSCR27,
CYP2C8,
DBN1,
PAQR7,
DDX5,
LIX1,
GLIS3,
DOK1,
EPYC,
DTNA,
E2F2,
E2F6,
PHC2,
KRTCAP2,
ELK1,
ADCK5,
EPS8,
AKT1,
ESD,
MECOM,
EYA3,
EZH2,
FABP7,
FANCG,
MPEG1,
LNX2,
FAM217A
|
| 25231575 |
J Orthop Res Godfrey E Etokebe , Zdravko Jotanovic , Radovan Mihelic , Biserka Mulac-Jericevic , Tamara Nikolic , Sanja Balen , Branko Sestan , Zlatko Dembic |
2015-01-01 | - |
| 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