| Type | Description |
|---|---|
| Definition | ferrochelatase |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 16:00:00 | Novel mutation of the ferrochelatase gene in a Japanese family with erythropoietic protoporphyria. | 32056258 |
| 2020-08-01 14:46:00 | This study demonstrates that FECH activity is an important determinant of tumor response to deferoxamine treatment. | 30767226 |
| 2020-07-04 12:44:00 | These results expand the molecular heterogeneity of the erythropoietic porphyrias by adding a total of 20 novel mutations in ferrochelatase. | 30454868 |
| 2020-07-04 12:25:00 | Our data show that there is a metabolic link between the activity ferrochelatase and levels of MFRN1 mRNA. We examined the correlation between ferrochelatase activity and MFRN1 mRNA in cell lines established from patients with the classical protoporphyria. | 30391163 |
| 2020-06-13 11:40:00 | Study reports evidence of a deep intronic variant causing erythropoietic protoporphyria. The c.464-1169 A>C intronic substitution (p.Ala155ValfsTer22) disrupts, likely through the institution of new methylated CpG site, an exonic splicing silencer site causing the insertion of a "cryptic exon" containing a stop codon, in the mature FECH transcript. | 31273344 |
| Type | IDs |
|---|---|
| Synonymous | EPP, EPP1, FCE |
| Gene |
UniProtKB-ID:
HEMH_HUMAN,
Q7KZA3_HUMAN,
A0A499FJN5_HUMAN
UniprotKB:
P22830,
Q7KZA3,
A0A499FJN5
UniParc:
UPI0003E67FD4,
UPI00004E55EB,
UPI0000074374,
UPI000013D257
EMBL:
BC039841,
D00726,
AK292937,
AK092416,
BX571744,
CH471096,
BT019958,
AF495859,
AJ250235,
AC100847,
L36178
Ensembl:
ENSG00000066926
KO:
hsa:2235
|
| Nucleutide sequences |
EMBL-CDS:
BAC03882.1,
BAA00628.1,
EAW63046.1,
AAV38761.1,
CAB65962.1,
AAM18070.1,
AAA64787.1,
AAH39841.2,
BAF85626.1,
CAE11869.1
Ensembl_TRS:
ENST00000652755,
ENST00000262093,
ENST00000382873
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000262093,
ENSP00000498358,
ENSP00000372326
RefSeq:
NP_001358024.1,
NP_000131.2,
NP_001361707.1,
NP_001358023.1,
XP_011524184.1,
NP_001012533.1,
XP_011524183.1
|
| Others |
UniRef100:
UniRef100_A0A499FJN5,
UniRef100_P22830
UniRef90:
UniRef90_A0A2K5J398,
UniRef90_P22830
UniRef50:
UniRef50_P22830
UniGene:
Hs.365365
CCDS:
CCDS32836.1,
CCDS11964.1
|
| {{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