| Type | Description |
|---|---|
| Definition | DDHD domain containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2018-03-31 11:46:00 | A novel homozygous mutation in DDHD1 was identified in a patient with hereditary spastic paraplegia, retinal dystrophy and a pattern of neurodegeneration with brain iron accumulation. | 28818478 |
| 2017-02-18 11:32:00 | the novel mutation in DDHD1 is the causative variant for the SPG28 patient that is the first record of the disease in Japanese population. | 27216551 |
| 2015-11-14 11:58:00 | Two novel heterozygous mutations in DDHD1 were found in the affected members of one family, with clinical features overlapping the SPG28 subtype. | 24989667 |
| 2014-06-07 12:53:00 | a possible mechanism of PA regulation of the mitochondrial membrane and demonstrate an in vivo function of PA-PLA1 in the organization of mitochondria during spermiogenesis. | 24599962 |
| 2010-07-26 11:03:00 | DDHD1-LPI-GPR55 axis to be involved in functions in the brain. | 20359546 |
| Type | IDs |
|---|---|
| Synonymous | PA-PLA1, PAPLA1, SPG28 |
| Gene |
UniProtKB-ID:
DDHD1_HUMAN
UniprotKB:
Q8NEL9
UniParc:
UPI0000237893,
UPI000013EAC5,
UPI00001D7B55,
UPI00000715C4
EMBL:
BC030703,
AL356020,
CH471061,
AK125372,
AL352979,
AK058137,
AB051492,
BC018014
Ensembl:
ENSG00000100523
KO:
hsa:80821
|
| Nucleutide sequences |
EMBL-CDS:
BAB21796.1,
BAB71679.1,
AAH18014.1,
EAW80623.1,
AAH30703.1
Ensembl_TRS:
ENST00000395606,
ENST00000673822,
ENST00000357758
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000350401,
ENSP00000500986,
ENSP00000378970
RefSeq:
XP_005268162.1,
XP_016877158.1,
NP_001153619.1,
XP_005268159.1,
XP_011535491.1,
XP_005268160.1,
XP_011535490.1,
NP_085140.2,
NP_001153620.1,
XP_016877157.1
|
| Others |
UniRef100:
UniRef100_Q8NEL9
UniRef90:
UniRef90_Q8NEL9
UniRef50:
UniRef50_Q8NEL9
UniGene:
Hs.125525
CCDS:
CCDS53896.1,
CCDS9714.1,
CCDS53895.1
|
| {{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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