| Type | Description |
|---|---|
| Definition | dynein regulatory complex subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:32:00 | Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population. | 31960620 |
| 2020-07-04 10:54:00 | Study report a 50-year-old Japanese male and 5 years old girl of Korean descent with primary ciliary dyskinesia (PCD) harboring a large homozygous deletion spanning exons 1- 4 of the DRC1. Four carriers of the same deletion among 965 Asian individuals were identified, whereas no deletion was found in the 23,951 non-Asians. Authors speculate that the DRC1 deletion is a recurrent or perhaps founder PCD mutation in Asians. | 31270959 |
| 2013-06-01 10:02:00 | Loss-of-function mutations disrupting DRC1 result in severe defects in assembly of the N-DRC structure and defective ciliary movement in Chlamydomonas reinhardtii and humans | 23354437 |
| Type | IDs |
|---|---|
| Synonymous | C2orf39, CCDC164, CILD21 |
| Gene |
UniProtKB-ID:
DRC1_HUMAN
UniprotKB:
Q96MC2
UniParc:
UPI000013DF36
EMBL:
AC093378,
AK289953,
AL833892,
AC010896,
AK057222
Ensembl:
ENSG00000157856
KO:
hsa:92749
|
| Nucleutide sequences |
EMBL-CDS:
BAF82642.1,
CAD38748.1,
AAY15082.1,
BAB71385.1,
AAY14647.1
Ensembl_TRS:
ENST00000288710
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000288710
RefSeq:
XP_016860760.1,
XP_024308986.1,
XP_005264694.1,
NP_659475.2
|
| Others |
UniRef100:
UniRef100_Q96MC2
UniRef90:
UniRef90_Q96MC2
UniRef50:
UniRef50_Q96MC2
UniGene:
Hs.393714
CCDS:
CCDS1723.1
|
| {{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 |
|---|---|---|---|
| 31960620 |
Mol Genet Genomic Med Kazuhiko Takeuchi , Yifei Xu , Masako Kitano , Kazuki Chiyonobu , Miki Abo , Koji Ikegami , Satoru Ogawa , Makoto Ikejiri , Mitsuko Kondo , Shimpei Gotoh , Mizuho Nagao , Takao Fujisawa , Kaname Nakatani |
2020-03-01 | - |
| 31270959 |
Mol Genet Genomic Med Kozo Morimoto , Minako Hijikata , Maimoona A Zariwala , Keith Nykamp , Atsushi Inaba , Tz-Chun Guo , Hiroyuki Yamada , Rebecca Truty , Yuka Sasaki , Ken Ohta , Shoji Kudoh , Margaret W Leigh , Michael R Knowles , Naoto Keicho |
2019-08-01 | - |
| 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
|
| 25411337 |
Detailed structural and biochemical characterization of the nexin-dynein regulatory complex. Mol. Biol. Cell Toshiyuki Oda , Haruaki Yanagisawa , Masahide Kikkawa |
2015-01-15 |
DRC1
|
| 25186273 |
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J Johanna Raidt , Julia Wallmeier , Rim Hjeij , Jörg GroÃe Onnebrink , Petra Pennekamp , Niki T Loges , Heike Olbrich , Karsten Häffner , Gerard W Dougherty , Heymut Omran , Claudius Werner |
2014-12-01 | - |
| 23319000 |
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. Mol. Psychiatry J J Luykx , S C Bakker , E Lentjes , M Neeleman , E Strengman , L Mentink , J DeYoung , S de Jong , J H Sul , E Eskin , K van Eijk , J van Setten , J E Buizer-Voskamp , R M Cantor , A Lu , M van Amerongen , E P A van Dongen , P Keijzers , T Kappen , P Borgdorff , P Bruins , E M Derks , R S Kahn , R A Ophoff |
2014-02-01 |
NR2E3,
HGC6.3,
MIR4789,
TRAP1,
ISX-AS1,
LOC101927056,
LOC101928354,
LOC101928516,
NCOA2,
RAB10,
CSMD2,
C10orf90,
SENP8,
COL4A3,
C2orf50,
CREBBP,
VENTXP1,
CLEC14A,
GRAMD2,
EMP2,
ERG,
SMG6,
KIF13B,
NAALADL2,
OPTC,
RNU6-6P,
RNU6-1,
FLJ33534,
SLC2A8,
KIF25,
CCSER1,
MLLT4,
DKFZp686K1684,
MYO9A,
PCSK5,
WWOX,
PPL,
ANKS1B,
PTPRG,
RCN1,
ROBO2,
SRR,
PIEZO2,
TP53AIP1,
LOC654841,
SSTR1,
TPD52,
DIRC3,
CACNB2,
ULBP3,
ADAM12,
ID2B,
C4orf17,
GARNL3,
TCHP,
ANKRD13A,
CCND3,
EFCAB11,
DRC1,
NRXN1,
OTOF,
VGLL4,
SEC14L5,
ARHGAP32,
GIT2
|
| 23354437 |
Nat. Genet. Maureen Wirschell , Heike Olbrich , Claudius Werner , Douglas Tritschler , Raqual Bower , Winfield S Sale , Niki T Loges , Petra Pennekamp , Sven Lindberg , Unne Stenram , Birgitta Carlén , Elisabeth Horak , Gabriele Köhler , Peter Nürnberg , Gudrun Nürnberg , Mary E Porter , Heymut Omran |
2013-03-01 |
DRC3,
DRC1,
DRC1
|
| 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 | - |
| 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 |
|---|---|---|
| {{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