| Type | Description |
|---|---|
| Definition | actin related protein 2/3 complex subunit 1B |
| Date | Results | Publications |
|---|---|---|
| 2020-10-24 13:57:00 | Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in From Asymptomatic Carriers and Normal Controls. | 31379835 |
| 2020-06-13 11:46:00 | mutations in will trigger progressive CTL activation-induced immunodeficiency and provides mechanistic insights into the immune dysregulation observed in this disease. | 31710310 |
| 2019-08-03 13:42:00 | Inherited deficiency alters T-cell cytoskeletal dynamics and functions, contributing to the clinical features of combined immunodeficiency. | 30254128 |
| 2018-01-30 09:21:00 | A homozygous frameshift mutation in (p.Val91Trpfs*30) was identified in a child with microthrombocytopenia, eosinophilia and inflammatory disease. Platelet lysates contained no duanyu37C1B protein and reduced Arp2/3 complex. Missense duanyu37C1B mutations were identified in an unrelated patient with similar symptoms and duanyu37C1B deficiency. platelets are microthrombocytes with abnormal spreading behavior. | 28368018 |
| 2017-12-30 10:45:00 | A homozygous 2 bp deletion, n.c.G623DEL-TC (p.V208VfsX20), in Arp2/3 complex component that causes a frame shift resulting in premature termination was found in 2 brothers with hematopoietic and immunologic symptoms reminiscent of Wiskott-Aldrich syndrome. Wild-type duanyu37C1B but not mutant was able to rescue a deficiency in a zebrafish model. duanyu37C1B expression is restricted to hematopoietic cells. | 29127144 |
| Type | IDs |
|---|---|
| Synonymous | ARC41, PLTEID, p40-ARC, p41-ARC |
| Gene |
UniProtKB-ID:
ARC1B_HUMAN,
A4D275_HUMAN
UniprotKB:
O15143,
A4D275
UniParc:
UPI0000125D33
EMBL:
AC004922,
AF006084,
AK314818,
CH471091,
BC002988,
BC002562,
CH236956,
BC007555
Ensembl:
ENSG00000130429
KO:
hsa:10095
|
| Nucleutide sequences |
EMBL-CDS:
AAH07555.1,
AAH02562.1,
AAB64189.1,
AAH02988.2,
BAG37341.1,
EAW76678.1,
EAW76679.1,
EAW76680.1,
EAL23882.1,
EAW76677.1
Gene_ORFName:
tcag7.662,
hCG_19475
Ensembl_TRS:
ENST00000427217,
ENST00000455009,
ENST00000458033,
ENST00000451682,
ENST00000645391,
ENST00000646101,
ENST00000431816
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000398110,
ENSP00000388802,
ENSP00000494033,
ENSP00000496599,
ENSP00000403211,
ENSP00000389631,
ENSP00000410238
RefSeq:
XP_006715888.1,
NP_005711.1,
XP_024302396.1,
XP_006715889.1,
XP_024302397.1
|
| Others |
UniRef100:
UniRef100_O15143
UniRef90:
UniRef90_O15143
UniRef50:
UniRef50_O15143
UniGene:
Hs.489284
CCDS:
CCDS5661.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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}} - |
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