Type | Description |
---|---|
Definition | solute carrier family 25 member 20 |
Date | Results | Publications |
---|---|---|
2017-12-02 12:15:00 | we report the first 2 cases of CACTD identified from the mainland China. Apart from a founder mutation c.199-10T>G, we have identified a novel c.1A>G mutation. Patients with Carnitine-acylcarnitine translocase deficiency with a genotype of c.199-10T>G mutation usually presents with a severe clinical phenotype. Early recognition and appropriate treatment is crucial in this highly lethal disorder. | 29137068 |
2017-11-04 10:49:00 | We provide evidence that the downregulation of hsa-miR-124-3p, hsa-miR-129-5p and hsa-miR-378 induced an increase in both expression and activity of CPT1A, CACT and CrAT in malignant prostate cells. | 28671672 |
2015-01-10 10:19:00 | The antiport mode of transport, typical of mitochondrial carriers such as CAC, results from coupling of uniport reactions in opposite directions mediated by specific amino acid residues. | 25325845 |
2014-05-24 11:16:00 | C.576G>A, c.106-2a>t and c.516T>C are novel CACT gene mutations. | 24088670 |
2013-07-06 10:38:00 | CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mitochondrial fatty acid beta-oxidation disorders. | 23322164 |
Type | IDs |
---|---|
Synonymous | CAC, CACT |
Gene |
UniProtKB-ID:
MCAT_HUMAN
UniprotKB:
O43772
UniParc:
UPI000012ED5E
EMBL:
Y17775,
Y17777,
AK312962,
Y17778,
BC001689,
Y17776,
Y10319,
Y17779
Ensembl:
ENSG00000178537
KO:
hsa:788
|
Nucleutide sequences |
EMBL-CDS:
AAH01689.1,
CAB55356.1,
BAG35801.1,
CAA71367.1
Ensembl_TRS:
ENST00000319017
|
Protein sequencees |
Ensembl_PRO:
ENSP00000326305
RefSeq:
NP_000378.1
|
Others |
UniRef100:
UniRef100_O43772
UniRef90:
UniRef90_O43772
UniRef50:
UniRef50_O43772
UniGene:
Hs.13845
CCDS:
CCDS2779.1
|
{{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 | - |
32457219 |
Diabetes Duc T Tran , Anita Pottekat , Saiful A Mir , Salvatore Loguercio , Insook Jang , Alexandre Rosa Campos , Kathleen M Scully , Reyhaneh Lahmy , Ming Liu , Peter Arvan , William E Balch , Randal J Kaufman , Pamela Itkin-Ansari |
2020-08-01 | - |
31536960 |
iScience Mohamed Taha Moutaoufik , Ramy Malty , Shahreen Amin , Qingzhou Zhang , Sadhna Phanse , Alla Gagarinova , Mara Zilocchi , Larissa Hoell , Zoran Minic , Maria Gagarinova , Hiroyuki Aoki , Jocelyn Stockwell , Matthew Jessulat , Florian Goebels , Kirsten Broderick , Nichollas E Scott , James Vlasblom , Gabriel Musso , Bhanu Prasad , Eleonora Lamantea , Barbara Garavaglia , Alex Rajput , Kei Murayama , Yasushi Okazaki , Leonard J Foster , Gary D Bader , Francisco S Cayabyab , Mohan Babu |
2019-09-27 | - |
29137068 |
Medicine (Baltimore) Hui-Ming Yan , Hao Hu , Aisha Ahmed , Bing-Bing Feng , Jing Liu , Zheng-Jun Jia , Hua Wang |
2017-11-01 | - |
28671672 |
Oncogene A Valentino , A Calarco , A Di Salle , M Finicelli , S Crispi , R A Calogero , F Riccardo , A Sciarra , A Gentilucci , U Galderisi , S Margarucci , G Peluso |
2017-10-26 | - |
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 | - |
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
|
26344197 |
Panorama of ancient metazoan macromolecular complexes. Nature Cuihong Wan , Blake Borgeson , Sadhna Phanse , Fan Tu , Kevin Drew , Greg Clark , Xuejian Xiong , Olga Kagan , Julian Kwan , Alexandr Bezginov , Kyle Chessman , Swati Pal , Graham Cromar , Ophelia Papoulas , Zuyao Ni , Daniel R Boutz , Snejana Stoilova , Pierre C Havugimana , Xinghua Guo , Ramy H Malty , Mihail Sarov , Jack Greenblatt , Mohan Babu , W Brent Derry , Elisabeth R Tillier , John B Wallingford , John Parkinson , Edward M Marcotte , Andrew Emili |
2015-09-17 |
AKT3,
MED6,
ABI1,
GNPDA1,
SRA1,
TDRD15,
HMGN1P30,
PDCD6IP,
PDCD6,
MED16,
ADA,
CHAF1A,
TOM1,
RANBP9,
SMC4,
ARPC4-TTLL3,
RBM14-RBM4,
RNF103-CHMP3,
CHURC1-FNTB,
AP1M2,
ISY1-RAB43,
UBA2,
SAE1,
FARSB,
DNM1L,
ABCF2,
COX17,
SCAMP2,
SCAMP3,
DPP3,
SNUPN,
HUWE1,
TSSC4,
ATP9A,
PQBP1,
COL4A3BP,
PTGES3L-AARSD1,
ARPC5,
ARPC4,
ARPC3,
ARPC1B,
ACTR3,
ACTR2,
NUBP2,
PPIF,
LOC101060521,
ARPC2,
RAD50,
ACTR1B,
ACTR1A,
ADAM8,
LRPPRC,
PDIA6,
TRAP1,
BCAP31,
NAMPT,
RBM12,
G3BP1,
ABI2,
CEBPZ,
TRIM28,
AASS,
ATP6AP2,
WASF2,
SLC25A13,
CDK2,
RBM7,
ALYREF,
TXNDC9,
LOC101929876,
PSME3,
MPHOSPH10,
MPHOSPH6,
CDK5,
NUTF2,
EIF1,
DDX39A,
PSMD14,
CDK7,
PLIN3,
HNRNPR,
MRPS31,
CDK8,
RABEPK,
RIDA,
SRRM1,
CDK9,
STAM2,
SF3B4,
ZMPSTE24,
AKAP8,
STUB1,
STAG1,
UBE4B,
PRSS16,
SIGMAR1,
BET1,
CWC27,
SAP18
|
26186194 |
The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin Wühr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi |
2015-07-16 | - |
25325845 |
Biochemistry Nicola Giangregorio , Lara Console , Annamaria Tonazzi , Ferdinando Palmieri , Cesare Indiveri |
2014-11-11 |
SLC25A20
|
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