| Type | Description |
|---|---|
| Definition | kelch like family member 41 |
| Date | Results | Publications |
|---|---|---|
| 2014-02-15 12:34:00 | Mutations in KLHL41 showed phenotype-genotype correlation: Frameshift mutations resulted in severe phenotypes with neonatal death, whereas missense changes resulted in impaired motor function with survival into late childhood and/or early adulthood. | 24268659 |
| Type | IDs |
|---|---|
| Synonymous | KBTBD10, Krp1, SARCOSIN |
| Gene |
UniProtKB-ID:
KLH41_HUMAN
UniprotKB:
O60662
UniParc:
UPI0000000DC5,
UPI000002AD02
EMBL:
AF056929,
AC093899,
AF333387,
BC006534
Ensembl:
ENSG00000239474
KO:
hsa:10324
|
| Nucleutide sequences |
EMBL-CDS:
AAG52886.1,
AAY24117.1,
AAH06534.1,
AAC13686.1
Ensembl_TRS:
ENST00000284669
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000284669
RefSeq:
NP_006054.2
|
| Others |
UniRef100:
UniRef100_O60662
UniRef90:
UniRef90_O60662
UniRef50:
UniRef50_O60662
UniGene:
Hs.50550
CCDS:
CCDS2234.1
|
| {{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 | - |
| 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 | - |
| 30021884 |
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck |
2018-10-01 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 24667918 |
J. Cereb. Blood Flow Metab. Shawna M Woollard , Biju Bhargavan , Fang Yu , Georgette D Kanmogne |
2014-06-01 |
tat,
CDH5,
KLHL41,
IFI30,
CEBPD,
SORBS1,
POSTN,
TNFSF13B,
CTSC,
PPARGC1A,
ESM1,
CHI3L2,
GBP4,
SERPINA3,
TC2N,
ADH1B,
CP,
CPM,
CTSS,
CYP1B1,
DPP4,
AGT,
ETV5,
F13A1,
FABP4,
FGF7,
FGF10,
SEL1L3,
SLC39A14,
MOXD1,
GLCE,
GBP2,
GCH1,
GEM,
GGT5,
FILIP1,
SULT1C4,
CXCL1,
CXCL2,
HSD11B1,
HTR2B,
TNC,
ICAM1,
IGFBP1,
CXCL8,
KCNB1,
KCNJ13,
KDR,
SLC16A12,
LAMB3,
LBP,
LY75,
MMP3,
MMP10,
MMP12,
NNMT,
NPR3,
NRCAM,
PCSK5,
C1RL,
PLA1A,
PLA2G4A,
PLD1,
GPR85,
ELOVL2,
RORB,
BDKRB2,
CFB,
CCL2,
CCL5,
CXCL6,
CXCL12,
SELL,
SMOC1,
CRLF2,
NFKBIZ,
SLC13A3,
PCDH15,
SOD2,
TF,
TGM2,
TNFAIP6,
C3,
ACTG2,
TTR,
C7,
CA12,
SCG2,
NDNF,
STEAP4,
CLMN,
PLBD1,
SLC19A3,
ADAMTS12,
ITGA8,
TNFSF10,
KYNU,
CH25H,
MLIP
|
| 25110572 |
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. Skelet Muscle Minttu Marttila , Mubashir Hanif , Elina Lemola , Kristen J Nowak , Jenni Laitila , Mikaela Grönholm , Carina Wallgren-Pettersson , Katarina Pelin |
2014-01-01 | - |
| 24268659 |
Am. J. Hum. Genet. Vandana A Gupta , Gianina Ravenscroft , Ranad Shaheen , Emily J Todd , Lindsay C Swanson , Masaaki Shiina , Kazuhiro Ogata , Cynthia Hsu , Nigel F Clarke , Basil T Darras , Michelle A Farrar , Amal Hashem , Nicholas D Manton , Francesco Muntoni , Kathryn N North , Sarah A Sandaradura , Ichizo Nishino , Yukiko K Hayashi , Caroline A Sewry , Elizabeth M Thompson , Kyle S Yau , Catherine A Brownstein , Timothy W Yu , Richard J N Allcock , Mark R Davis , Carina Wallgren-Pettersson , Naomichi Matsumoto , Fowzan S Alkuraya , Nigel G Laing , Alan H Beggs |
2013-12-05 | - |
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
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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