Type | Description |
---|---|
Definition | solute carrier family 6 member 17 |
Date | Results | Publications |
---|---|---|
2015-05-16 12:55:00 | Our genetic findings implicate homozygous SLC6A17 mutations in autosomal-recessive intellectual disability. | 25704603 |
2010-06-30 22:05:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
2010-01-21 00:00:00 | The substrate profile of the NTT4/XT1-dependent activity is similar to that of the closely related B(0)AT2/SBAT1 (SLC6A15), including a submillimolar apparent affinity for proline and leucine and a low millimolar apparent affinity for glutamine. | 19147495 |
Type | IDs |
---|---|
Synonymous | MRT48, NTT4 |
Gene |
UniProtKB-ID:
S6A17_HUMAN
UniprotKB:
Q9H1V8
UniParc:
UPI0000470B3D
EMBL:
AK289982,
BC140908,
AL137790,
AL355990
Ensembl:
ENSG00000197106
KO:
hsa:388662
|
Nucleutide sequences |
EMBL-CDS:
BAF82671.1,
AAI40909.1
Ensembl_TRS:
ENST00000331565
|
Protein sequencees |
Ensembl_PRO:
ENSP00000330199
RefSeq:
XP_006710706.1,
NP_001010898.1
|
Others |
UniRef100:
UniRef100_Q9H1V8
UniRef90:
UniRef90_Q9H1V8
UniRef50:
UniRef50_Q9H1V8
UniGene:
Hs.128382
CCDS:
CCDS30799.1
|
{{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 |
---|---|---|---|
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 | - |
30280653 |
Blood-Brain Barrier: From Physiology to Disease and Back. Physiol. Rev. Melanie D Sweeney , Zhen Zhao , Axel Montagne , Amy R Nelson , Berislav V Zlokovic |
2019-01-01 | - |
25970702 |
Mutations in SLC6A17 cause autosomal-recessive intellectual disability. Clin. Genet. S Waltl |
2015-08-01 | - |
25704603 |
Am J Hum Genet Zafar Iqbal , Marjolein H Willemsen , Marie-Amélie Papon , Luciana Musante , Marco Benevento , Hao Hu , Hanka Venselaar , Willemijn M Wissink-Lindhout , Anneke T Vulto-van Silfhout , Lisenka E L M Vissers , Arjan P M de Brouwer , Sylviane Marouillat , Thomas F Wienker , Hans Hilger Ropers , Kimia Kahrizi , Nael Nadif Kasri , Hossein Najmabadi , Frédéric Laumonnier , Tjitske Kleefstra , Hans van Bokhoven |
2015-03-05 | - |
22589738 |
PLoS Genet Caroline S Fox , Yongmei Liu , Charles C White , Mary Feitosa , Albert V Smith , Nancy Heard-Costa , Kurt Lohman , GIANT Consortium , MAGIC Consortium , GLGC Consortium , Andrew D Johnson , Meredith C Foster , Danielle M Greenawalt , Paula Griffin , Jinghong Ding , Anne B Newman , Fran Tylavsky , Iva Miljkovic , Stephen B Kritchevsky , Lenore Launer , Melissa Garcia , Gudny Eiriksdottir , J Jeffrey Carr , Vilmunder Gudnason , Tamara B Harris , L Adrienne Cupples , Ingrid B Borecki |
2012-01-01 | - |
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 | - |
20379614 |
Mol. Med. Jed E Rose , Frédérique M Behm , Tomas Drgon , Catherine Johnson , George R Uhl |
2010-03-17 | - |
19147495 |
Synaptic Vesicle Protein NTT4/XT1 (SLC6A17) Catalyzes Na+-coupled Neutral Amino Acid Transport. J Biol Chem Kimberly A Zaia , Richard J Reimer |
2009-03-27 | - |
18768736 |
Mol. Pharmacol. Leonardo A Parra , Tracy Baust , Salah El Mestikawy , Marisol Quiroz , Beth Hoffman , Jack M Haflett , Jeffrey K Yao , Gonzalo E Torres |
2008-12-01 |
Slc6a17
|
16710414 |
The DNA sequence and biological annotation of human chromosome 1. Nature S G Gregory , K F Barlow , K E McLay , R Kaul , D Swarbreck , A Dunham , C E Scott , K L Howe , K Woodfine , C C A Spencer , M C Jones , C Gillson , S Searle , Y Zhou , F Kokocinski , L McDonald , R Evans , K Phillips , A Atkinson , R Cooper , C Jones , R E Hall , T D Andrews , C Lloyd , R Ainscough , J P Almeida , K D Ambrose , F Anderson , R W Andrew , R I S Ashwell , K Aubin , A K Babbage , C L Bagguley , J Bailey , H Beasley , G Bethel , C P Bird , S Bray-Allen , J Y Brown , A J Brown , D Buckley , J Burton , J Bye , C Carder , J C Chapman , S Y Clark , G Clarke , C Clee , V Cobley , R E Collier , N Corby , G J Coville , J Davies , R Deadman , M Dunn , M Earthrowl , A G Ellington , H Errington , A Frankish , J Frankland , L French , P Garner , J Garnett , L Gay , M R J Ghori , R Gibson , L M Gilby , W Gillett , R J Glithero , D V Grafham , C Griffiths , S Griffiths-Jones , R Grocock , S Hammond , E S I Harrison , E Hart , E Haugen , P D Heath , S Holmes , K Holt , P J Howden , A R Hunt , S E Hunt , G Hunter , J Isherwood , R James , C Johnson , D Johnson , A Joy , M Kay , J K Kershaw , M Kibukawa , A M Kimberley , A King , A J Knights , H Lad , G Laird , S Lawlor , D A Leongamornlert , D M Lloyd , J Loveland , J Lovell , M J Lush , R Lyne , S Martin , M Mashreghi-Mohammadi , L Matthews , N S W Matthews , S McLaren , S Milne , S Mistry , M J F Moore , T Nickerson , C N O'Dell , K Oliver , A Palmeiri , S A Palmer , A Parker , D Patel , A V Pearce , A I Peck , S Pelan , K Phelps , B J Phillimore , R Plumb , J Rajan , C Raymond , G Rouse , C Saenphimmachak , H K Sehra , E Sheridan , R Shownkeen , S Sims , C D Skuce , M Smith , C Steward , S Subramanian , N Sycamore , A Tracey , A Tromans , Z Van Helmond , M Wall , J M Wallis , S White , S L Whitehead , J E Wilkinson , D L Willey , H Williams , L Wilming , P W Wray , Z Wu , A Coulson , M Vaudin , J E Sulston , R Durbin , T Hubbard , R Wooster , I Dunham , N P Carter , G McVean , M T Ross , J Harrow , M V Olson , S Beck , J Rogers , D R Bentley , R Banerjee , S P Bryant , D C Burford , W D H Burrill , S M Clegg , P Dhami , O Dovey , L M Faulkner , S M Gribble , C F Langford , R D Pandian , K M Porter , E Prigmore |
2006-05-18 | - |
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