| Type | Description |
|---|---|
| Definition | solute carrier family 7 member 14 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-14 12:52:00 | We applied Targeted exome sequencing to the molecular diagnosis of patients with inherited retinal dystrophy and for the first time identified SLC7A14 mutations in two unrelated families with retinitis pigmentosa and Leber congenital amaurosis separately. | 30924391 |
| 2017-11-18 13:42:00 | The four SLC7A14 mutations detected herein were unlikely to be pathogenic in this Japanese cohort. The frequency and pathogenicity of SLC7A14 mutations may vary depending on ethnicity, and these mutations may be rare in Japanese patients. | 27028480 |
| 2014-12-06 13:03:00 | Data suggests that cationic transporter SLC7A14 has an important role in retinal development and visual function. | 24670872 |
| 2012-11-24 11:01:00 | A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport. | 22787143 |
| 2010-06-30 22:05:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | PPP1R142 |
| Gene |
UniProtKB-ID:
S7A14_HUMAN
UniprotKB:
Q8TBB6
UniParc:
UPI0000051F6B
EMBL:
AB046833,
AK122655,
BC022968,
AC008041
Ensembl:
ENSG00000013293
KO:
hsa:57709
|
| Nucleutide sequences |
EMBL-CDS:
BAG53645.1,
AAH22968.2,
BAB13439.1
Ensembl_TRS:
ENST00000231706
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000231706
RefSeq:
NP_066000.2
|
| Others |
UniRef100:
UniRef100_Q8TBB6
UniRef90:
UniRef90_Q8TBB6
UniRef50:
UniRef50_Q8TBB6
UniGene:
Hs.596660
CCDS:
CCDS33892.1
|
| {{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 | - |
| 30631154 |
LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Cell Res Qingsong Hu , Chunlai Li , Shouyu Wang , Yajuan Li , Bo Wen , Yanyan Zhang , Ke Liang , Jun Yao , Youqiong Ye , Heidi Hsiao , Tina K Nguyen , Peter K Park , Sergey D Egranov , David H Hawke , Jeffrey R Marks , Leng Han , Mien-Chie Hung , Bing Zhang , Chunru Lin , Liuqing Yang |
2019-04-01 | - |
| 30924391 |
Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy. Ophthalmic Genet Li-Yun Guo , Sui-Lian Zheng , Jun Li , Qin Zhu , Wen-Hua Duan , Yuan Zhang , Ying-Ting Zhu , Min Hu |
2019-04-01 | - |
| 27028480 |
Ophthalmic Genet Masako Sugahara , Maho Oishi , Akio Oishi , Ken Ogino , Satoshi Morooka , Norimoto Gotoh , Inyeop Kang , Nagahisa Yoshimura |
2016-03-30 | - |
| 24670872 |
SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nat Commun Zi-Bing Jin , Xiu-Feng Huang , Ji-Neng Lv , Lue Xiang , Dong-Qing Li , Jiangfei Chen , Changjiang Huang , Jinyu Wu , Fan Lu , Jia Qu |
2014-01-01 |
Slc7a14,
slc7a14a,
SLC7A14
|
| 22787143 |
J Biol Chem Isabel Jaenecke , Jean-Paul Boissel , Matthias Lemke , Johanna Rupp , Bruno Gasnier , Ellen I Closs |
2012-08-31 | - |
| 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 | - |
| 19389623 |
Docking motif-guided mapping of the interactome of protein phosphatase-1. Chem. Biol. Annick Hendrickx , Monique Beullens , Hugo Ceulemans , Tom Den Abt , Aleyde Van Eynde , Emilia Nicolaescu , Bart Lesage , Mathieu Bollen |
2009-04-24 |
FARP1,
MPHOSPH10,
CD2BP2,
CENPE,
KDM5B,
LMTK3,
ELFN2,
PPP1R27,
TMEM132D,
WDR81,
PPP1R21,
ZSWIM3,
PPP1R36,
SH3RF2,
SPRED1,
CNST,
DLG2,
DLG3,
PPP1R32,
PPP1R35,
RRP1B,
FKBP15,
RPGRIP1L,
RIMBP2,
ZBTB38,
TRPC4AP,
SACS,
PCDH11X,
GPR12,
PPP1R37,
TRIM42,
UBN1,
TMEM225,
ITPR3,
GRXCR1,
ELFN1,
MAP1B,
MCM7,
MKI67,
MYO1D,
ORC5,
VPS54,
ZFYVE1,
KCNK10,
HYDIN,
SYTL2,
CHCHD3,
PPP1CA,
GPATCH2,
CEP192,
CASC1,
CASC5,
ARFGEF3,
PHRF1,
CAMSAP3,
SLC7A14,
TSKS,
SH2D4A,
PCIF1,
RBM26,
CSMD1,
DDX31,
WNK1,
TSC2,
CSRNP3,
PREX2,
CSRNP2,
ELL,
CCDC8,
ZCCHC9,
CHCHD6,
NIFK,
SPOCD1,
PKMYT1,
TMEM132C,
KIAA0430,
DZIP3,
SFI1,
SPATA2,
PPP1R26,
PPP1CA
|
| 16344560 |
Genome Res. Kouichi Kimura , Ai Wakamatsu , Yutaka Suzuki , Toshio Ota , Tetsuo Nishikawa , Riu Yamashita , Jun-ichi Yamamoto , Mitsuo Sekine , Katsuki Tsuritani , Hiroyuki Wakaguri , Shizuko Ishii , Tomoyasu Sugiyama , Kaoru Saito , Yuko Isono , Ryotaro Irie , Norihiro Kushida , Takahiro Yoneyama , Rie Otsuka , Katsuhiro Kanda , Takahide Yokoi , Hiroshi Kondo , Masako Wagatsuma , Katsuji Murakawa , Shinichi Ishida , Tadashi Ishibashi , Asako Takahashi-Fujii , Tomoo Tanase , Keiichi Nagai , Hisashi Kikuchi , Kenta Nakai , Takao Isogai , Sumio Sugano |
2006-01-01 |
Nefm,
MED6,
CDH2,
PDZK1P1,
DDTL,
ABI1,
GNPDA1,
GTF2IP4,
ZSCAN30,
SRA1,
TMEM170B,
HOTAIR,
FAM86JP,
LOC100126784,
C8orf88,
LOC100128006,
RAB28P5,
MYHAS,
CDC42P3,
LOC100128979,
LOC100128993,
KTN1-AS1,
LOC100129083,
LOC100129204,
TOPORS-AS1,
LINC00484,
ZNF37BP,
FAM47E,
MRVI1-AS1,
ZNF737,
LOC100130075,
MAPT-IT1,
MIR124-2HG,
LINC00861,
LOC100130238,
LOC100130357,
PARD6G-AS1,
LOC100130547,
NFYC-AS1,
EFCAB10,
LOC100130798,
SBK3,
LOC100130849,
LOC100130872,
LOC100130880,
LOC100130987,
LOC100131047,
LINC01135,
CKMT2-AS1,
ZBTB20-AS1,
WDR86-AS1,
CCDC183-AS1,
SNAP25-AS1,
NEMP2,
ZNF503-AS2,
MIR181A1HG,
DBIL5P,
HDAC6,
MZF1-AS1,
ARMCX4,
LINC00271,
ZNF717,
LOC100132057,
LOC100132111,
CALML3-AS1,
NDUFA6-AS1,
FRG1HP,
FCGR1CP,
GXYLT1P3,
GOLGA8F,
DCAF13P3,
IPO5P1,
MSC-AS1,
SMIM9,
FAM66A,
CD24,
UXT-AS1,
JHDM1D-AS1,
UBE2Q2P2,
TEN1,
JMJD7,
PLA2G4B,
LINC00930,
PDCD6IP,
HECTD2-AS1,
ZFHX4-AS1,
FAR2P2,
LOC100233156,
PCED1B-AS1,
PIGK,
LOC100270746,
LOC100270804,
LINC00940,
ERVV-2,
MEF2B,
ZNRF2P2,
NFE2L3P2,
LINC00894,
BCDIN3D-AS1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
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| 排名 | 研究人员 | 文献 |
|---|---|---|
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