| Type | Description |
|---|---|
| Definition | helicase for meiosis 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-12-14 11:27:00 | A novel heterozygous missense mutation in HFM1 (c.3470G > A) associated with premature ovarian insufficiency (POI) is in the affected family members and absent in the unaffected family members in China. Results of the minigene assay reveals that the mutation changes the mRNA splicing repertory. | 31279343 |
| 2017-05-06 10:24:00 | Data suggest that HFM1 gene might be associated with primary ovarian insufficiency in Chinese population. | 26679638 |
| 2014-03-22 10:06:00 | Exome sequencing of two Chinese sisters with primary ovarian insufficiency and their parents identified a shared compound heterozygous mutation in a meiotic gene, HFM1, which encodes a protein necessary for homologous recombination of chromosomes. | 24597873 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20800603 |
| 2010-06-30 22:06:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | MER3, POF9, SEC63D1, Si-11, Si-11-6, helicase |
| Gene |
UniProtKB-ID:
HFM1_HUMAN
UniprotKB:
A2PYH4
UniParc:
UPI000006E0A6,
UPI0000F51F79
EMBL:
AK094079,
BX323048,
AB204867,
AC098691
Ensembl:
ENSG00000162669
KO:
hsa:164045
|
| Nucleutide sequences |
EMBL-CDS:
BAC04281.1,
BAF45466.1
Ensembl_TRS:
ENST00000370425
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359454
RefSeq:
XP_016855980.1,
XP_016855979.1,
XP_011539151.1,
XP_024309476.1,
XP_016855985.1,
XP_011539159.1,
XP_011539157.1,
XP_016855981.1,
XP_011539152.1,
XP_016855984.1,
XP_016855982.1,
XP_016855983.1,
NP_001017975.5,
XP_011539161.1,
XP_011539154.1,
XP_011539153.1
|
| Others |
UniRef100:
UniRef100_A2PYH4
UniRef90:
UniRef90_A2PYH4
UniRef50:
UniRef50_A2PYH4
UniGene:
Hs.454818
CCDS:
CCDS30769.2
|
| {{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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