| Type | Description |
|---|---|
| Definition | kelch like family member 40 |
| Date | Results | Publications |
|---|---|---|
| 2017-09-09 10:13:00 | Two compound heterozygous mutations; c.602G > A(p.W201*) and c.1516A > C(p.T506P), in the Kelch-like 40 (KLHL40) gene were discovered in a family with 3 fetuses affected by fetal akinesia deformation sequence. | 27762439 |
| 2015-02-21 10:17:00 | NEB and LMOD3 were reduced in skeletal muscle of KLHL40-deficient patients, providing a potential basis for the development of nemaline myopathy. | 24960163 |
| 2013-09-21 12:37:00 | KLHL40 mutations as a frequent cause of severe autosomal-recessive nemaline myopathy. It plays a key role in muscle development and function. | 23746549 |
| Type | IDs |
|---|---|
| Synonymous | KBTBD5, NEM8, SRYP, SYRP |
| Gene |
UniProtKB-ID:
KLH40_HUMAN,
A8K5H9_HUMAN
UniprotKB:
Q2TBA0,
A8K5H9
UniParc:
UPI000000D866,
UPI0000EF8890,
UPI00015DA82F
EMBL:
AY177390,
BC110491,
AY176040,
AK291294,
AK056577
Ensembl:
ENSG00000157119
KO:
hsa:131377
|
| Nucleutide sequences |
EMBL-CDS:
AAI10492.1,
BAB71222.1,
AAO06908.1,
AAO22141.1,
BAF83983.1
Ensembl_TRS:
ENST00000287777
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000287777
RefSeq:
NP_689606.2
|
| Others |
UniRef100:
UniRef100_Q2TBA0,
UniRef100_A8K5H9
UniRef90:
UniRef90_Q2TBA0
UniRef50:
UniRef50_Q2TBA0
UniGene:
Hs.350288
CCDS:
CCDS2703.1
|
| {{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 | - |
| 30986853 |
Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy. Hum Mol Genet Caroline Jirka , Jasmine H Pak , Claire A Grosgogeat , Michael Mario Marchetii , Vandana A Gupta |
2019-08-01 | - |
| 30404837 |
Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation. J. Cell. Sci. Tomoaki Nagai , Sachiho Mukoyama , Harumi Kagiwada , Naoki Goshima , Kensaku Mizuno |
2018-12-12 | - |
| 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 | - |
| 27762439 |
Prenat. Diagn. Tai-Heng Chen , Xia Tian , Pao-Lin Kuo , Hui-Ping Pan , Lee-Jun C Wong , Yuh-Jyh Jong |
2016-12-01 | - |
| 25192599 |
Neurobiol. Aging Tao Wang , Xin Jiang , Gang Chen , Jin Xu |
2015-01-01 |
Fus,
Sfpq,
CDH4,
SAE1,
ABCF2,
SF3B4,
SF3A1,
TUBA1B,
SYNCRIP,
CCT7,
CCT4,
CCT2,
PAICS,
CCT8,
CFL1,
SF3A3,
CKAP4,
YWHAQ,
NUDT21,
CPSF6,
ATXN2L,
DDX42,
CKB,
HIST4H4,
LSM12,
RAVER1,
KLHL40,
PM20D2,
CSE1L,
AMOT,
GIMAP8,
DGKA,
DDX1,
DDX5,
DHX15,
DLD,
AHCY,
EEF1A1,
ABCA1,
EEF1G,
EEF2,
EIF4A1,
CEP112,
ENO1,
ADCK5,
TUBB,
ALB,
F7,
FASN,
ALDOA,
CCT5,
NCOA6,
ERP44,
UFL1,
HARS2,
SF3B3,
FUS,
RAD54B,
FAM98A,
GAPDH,
SERBP1,
PHGDH,
ERAL1,
GOLIM4,
GLUD1,
GNAS,
GOT2,
GPI,
IGKV1-5,
SLC25A5,
PDIA3,
GSTP1,
YPEL1,
H3F3A,
H3F3B,
ANXA2P2,
ANXA5,
ACACA,
HNRNPD,
HNRNPF,
HNRNPH1,
HNRNPK,
HNRNPL,
HNRNPU,
HPRT1,
PRMT1,
HSPA5,
HSPA8,
HSPA9,
HSP90AA1,
HSP90AB1,
HSPD1,
LRRIQ4,
GEN1,
ITK,
KPNB1,
KPNA2,
LDHA,
LDHB
|
| 25416956 |
A proteome-scale map of the human interactome network. Cell Thomas Rolland , Murat TaÅan , Benoit Charloteaux , Samuel J Pevzner , Quan Zhong , Nidhi Sahni , Song Yi , Irma Lemmens , Celia Fontanillo , Roberto Mosca , Atanas Kamburov , Susan D Ghiassian , Xinping Yang , Lila Ghamsari , Dawit Balcha , Bridget E Begg , Pascal Braun , Marc Brehme , Martin P Broly , Anne-Ruxandra Carvunis , Dan Convery-Zupan , Roser Corominas , Jasmin Coulombe-Huntington , Elizabeth Dann , Matija Dreze , Amélie Dricot , Changyu Fan , Eric Franzosa , Fana Gebreab , Bryan J Gutierrez , Madeleine F Hardy , Mike Jin , Shuli Kang , Ruth Kiros , Guan Ning Lin , Katja Luck , Andrew MacWilliams , Jörg Menche , Ryan R Murray , Alexandre Palagi , Matthew M Poulin , Xavier Rambout , John Rasla , Patrick Reichert , Viviana Romero , Elien Ruyssinck , Julie M Sahalie , Annemarie Scholz , Akash A Shah , Amitabh Sharma , Yun Shen , Kerstin Spirohn , Stanley Tam , Alexander O Tejeda , Shelly A Trigg , Jean-Claude Twizere , Kerwin Vega , Jennifer Walsh , Michael E Cusick , Yu Xia , Albert-László Barabási , Lilia M Iakoucheva , Patrick Aloy , Javier De Las Rivas , Jan Tavernier , Michael A Calderwood , David E Hill , Tong Hao , Frederick P Roth , Marc Vidal |
2014-11-20 | - |
| 24960163 |
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J. Clin. Invest. Ankit Garg , Jason O'Rourke , Chengzu Long , Jonathan Doering , Gianina Ravenscroft , Svetlana Bezprozvannaya , Benjamin R Nelson , Nadine Beetz , Lin Li , She Chen , Nigel G Laing , Robert W Grange , Rhonda Bassel-Duby , Eric N Olson |
2014-08-01 |
Acta1,
Gapdh,
Neb,
Nrap,
Tuba1b,
Klhl41,
Kank2,
Iqgap1,
Lmod3,
Tubb1,
Myl12a,
Klhl40,
Slc25a2,
KLHL40,
CC2D1B,
NEB,
LMOD3,
VDAC1,
AHNAK
|
| 23746549 |
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am. J. Hum. Genet. Gianina Ravenscroft , Satoko Miyatake , Vilma-Lotta Lehtokari , Emily J Todd , Pauliina Vornanen , Kyle S Yau , Yukiko K Hayashi , Noriko Miyake , Yoshinori Tsurusaki , Hiroshi Doi , Hirotomo Saitsu , Hitoshi Osaka , Sumimasa Yamashita , Takashi Ohya , Yuko Sakamoto , Eriko Koshimizu , Shintaro Imamura , Michiaki Yamashita , Kazuhiro Ogata , Masaaki Shiina , Robert J Bryson-Richardson , Raquel Vaz , Ozge Ceyhan , Catherine A Brownstein , Lindsay C Swanson , Sophie Monnot , Norma B Romero , Helge Amthor , Nina Kresoje , Padma Sivadorai , Cathy Kiraly-Borri , Goknur Haliloglu , Beril Talim , Diclehan Orhan , Gulsev Kale , Adrian K Charles , Victoria A Fabian , Mark R Davis , Martin Lammens , Caroline A Sewry , Adnan Manzur , Francesco Muntoni , Nigel F Clarke , Kathryn N North , Enrico Bertini , Yoram Nevo , Ekkhard Willichowski , Inger E Silberg , Haluk Topaloglu , Alan H Beggs , Richard J N Allcock , Ichizo Nishino , Carina Wallgren-Pettersson , Naomichi Matsumoto , Nigel G Laing |
2013-07-11 | - |
| 23676014 |
Update on the Kelch-like (KLHL) gene family. Hum Genomics Bajinder S Dhanoa , Tiziana Cogliati , Akhila G Satish , Elspeth A Bruford , James S Friedman |
2013-05-15 | - |
| 排名 | 科研单位 | 文献 |
|---|---|---|
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|---|---|---|
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