| Type | Description |
|---|---|
| Definition | peroxisomal biogenesis factor 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-01 14:37:00 | There are no significant differences between PEX1-, PEX6-, and PEX26-associated phenotypes inclinical and genetic spectrum of Heimler syndrome. | 31831025 |
| 2020-01-11 10:48:00 | This article reviews the abundant records of missense mutations described in Peroxisome biogenesis disorders patients with the aim to classify and rationalize them by mapping them onto a homology model of the human Pex1/Pex6 complex. [review] | 31374812 |
| 2019-02-09 12:40:00 | This study provides evidence suggesting that monoubiquitinated PEX5 interacts directly with both PEX1 and PEX6 through its ubiquitin moiety and that the PEX5 polypeptide chain is globally unfolded during the ATP-dependent extraction event. | 29884772 |
| 2018-01-13 11:46:00 | heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome | 28432012 |
| 2018-01-06 11:50:00 | Major finding is linking peroxisome biogenesis factor 1 (PEX1) to obesity phenotypes, a novel mechanism of peroxisomal biogenesis and metabolism underlying the development of childhood obesity. | 28508493 |
| Type | IDs |
|---|---|
| Synonymous | HMLR1, PBD1A, PBD1B, ZWS, ZWS1 |
| Gene |
UniProtKB-ID:
PEX1_HUMAN,
A0A0C4DG33_HUMAN,
B4DER6_HUMAN
UniprotKB:
O43933,
A0A0C4DG33,
B4DER6
UniParc:
UPI0000141020,
UPI00017A6C27,
UPI000198CE28,
UPI0000001C39
EMBL:
AF026086,
AB008112,
AK295686,
AB052091,
AB052092,
AK293757,
KF458517,
AC007566,
AF030356,
AC000064,
AB052090,
BC035575,
AK292955,
CH471091,
CH236949
Ensembl:
ENSG00000127980
KO:
hsa:5189
|
| Nucleutide sequences |
EMBL-CDS:
BAA85162.1,
BAB59062.1,
EAW76840.1,
BAF85644.1,
BAB59063.1,
EAL24149.1,
AAB87880.1,
BAG58539.1,
AAB46346.1,
AAH35575.1,
BAB59061.1,
AAB99758.1,
EAW76842.1,
BAG57177.1
Gene_ORFName:
hCG_19541
Ensembl_TRS:
ENST00000248633,
ENST00000438045,
ENST00000428214
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000248633,
ENSP00000410438,
ENSP00000394413
RefSeq:
NP_000457.1,
NP_001269607.1,
XP_016867808.1,
NP_001269606.1
|
| Others |
UniRef100:
UniRef100_O43933,
UniRef100_A0A0C4DG33
UniRef90:
UniRef90_O43933
UniRef50:
UniRef50_O43933
UniGene:
Hs.164682
CCDS:
CCDS5627.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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