| Type | Description |
|---|---|
| Definition | ARV1 homolog, fatty acid homeostasis modulator |
| Date | Results | Publications |
|---|---|---|
| 2021-02-13 13:29:00 | Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. | 32165008 |
| 2017-07-22 10:30:00 | In contrast to wild type human ARV1, neither variant expressed detectable levels of protein in mammalian cells. Mice with a neuronal deletion of Arv1 recapitulated the human phenotype, exhibiting seizures and a severe survival defect in adulthood. Our data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy | 27270415 |
| 2016-12-17 11:22:00 | A novel function for Arv1 in regulation of cell division through promotion of the contractile actomyosin ring, which is independent of its lipid transporter activity. | 27104745 |
| 2016-10-29 11:59:00 | Overexpression of human ARV1 could rescue the phenotypes associated with GPI anchor synthesis defect in the yeast arv1Delta mutant. Arv1 function in GPI biosynthesis may be conserved in all eukaryotes, from yeast to humans. | 26460143 |
| 2014-05-03 10:35:00 | These results implicate ARV1 as a protective factor in lipotoxic diseases due to modulation of fatty acid metabolism. | 24273168 |
| Type | IDs |
|---|---|
| Synonymous | EIEE38 |
| Gene |
UniProtKB-ID:
ARV1_HUMAN,
A0A024R3V6_HUMAN
UniprotKB:
Q9H2C2,
A0A024R3V6
UniParc:
UPI0000036159
EMBL:
AK293049,
AL844165,
AL732414,
BC016309,
AL122047,
AK026629,
AF321442,
CH471098,
AF290878,
AF271780
Ensembl:
ENSG00000173409
KO:
hsa:64801
|
| Nucleutide sequences |
EMBL-CDS:
AAK11180.1,
AAG44791.1,
BAF85738.1,
AAG47671.1,
CAB59183.3,
AAH16309.1,
EAW69935.1,
BAB15513.1,
EAW69940.1,
EAW69939.1
Gene_ORFName:
HT035,
hCG_14674
Ensembl_TRS:
ENST00000310256
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000312458
RefSeq:
NP_001333921.1,
NP_073623.1,
XP_024304970.1
|
| Others |
UniRef100:
UniRef100_Q9H2C2
UniRef90:
UniRef90_Q9H2C2
UniRef50:
UniRef50_Q9H2C2
UniGene:
Hs.275736
CCDS:
CCDS1589.1
|
| {{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
| 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