| Type | Description |
|---|---|
| Definition | EMAP like 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-12 16:01:00 | Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia. | 31390572 |
| 2020-05-09 13:12:00 | biallelic EML1 disease-causing variants cause a highly specific pattern of congenital brain malformations, severe developmental delay, seizures and visual impairment | 31710781 |
| 2017-07-22 11:48:00 | a homozygous truncating variant in EML1 is a novel cause of congenital hydrocephalus. | 28556411 |
| 2015-06-27 12:01:00 | We show that the trimerization domain (TD) of EML1 is necessary and sufficient for self-association. The TD is also essential for MT binding; however, this property requires an adjacent basic region. | 25740311 |
| 2014-08-23 11:25:00 | We found EML1 to be mutated in ribbon-like heterotopia in humans | 24859200 |
| Type | IDs |
|---|---|
| Synonymous | BH, ELP79, EMAP, EMAPL, HuEMAP |
| Gene |
UniProtKB-ID:
EMAL1_HUMAN
UniprotKB:
O00423
UniParc:
UPI000013D278,
UPI00004A074E
EMBL:
AJ428186,
AJ428185,
AJ428184,
AJ428194,
BX247979,
AJ428200,
AJ428197,
BC033043,
AJ428183,
AJ428190,
U97018,
AJ496645,
AJ428193,
AJ428189,
AJ496644,
BC032541,
AJ428192,
AJ428196,
AJ428199,
AJ428187,
AJ428198,
AJ428191,
AJ428188,
AJ428195,
AJ420603
Ensembl:
ENSG00000066629
KO:
hsa:2009
|
| Nucleutide sequences |
EMBL-CDS:
AAH32541.1,
CAD12600.2,
AAH33043.1,
CAD62313.1,
AAB57824.1
Ensembl_TRS:
ENST00000334192,
ENST00000262233
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000334314,
ENSP00000262233
RefSeq:
XP_011534842.1,
XP_005267456.2,
NP_001008707.1,
XP_024305275.1,
NP_001362341.1,
XP_005267455.1,
NP_001362340.1,
XP_005267454.1,
NP_004425.2,
XP_011534844.1,
XP_011534843.1
|
| Others |
UniRef100:
UniRef100_O00423
UniRef90:
UniRef90_O00423
UniRef50:
UniRef50_O00423
UniGene:
Hs.12451
CCDS:
CCDS32154.1,
CCDS32155.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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