| Type | Description |
|---|---|
| Definition | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-28 12:04:00 | AMMECR1 plays a critical role in cell proliferation, cell-cycle progression, and apoptosis of human lung cancer cells, and may serve as a potential therapeutic target for non-small-cell lung cancer. | 31519561 |
| 2019-01-12 10:09:00 | results suggest that AMMECR1 is potentially involved in cell cycle control and linked to a new syndrome with growth, bone, heart, and kidney alterations with or without elliptocytosis. | 29193635 |
| 2017-11-04 12:46:00 | We conclude that AMMECR1 is a critical gene in the pathogenesis of Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME), causing midface hypoplasia and elliptocytosis and contributing to early speech and language delay, infantile hypotonia and hearing loss | 27811305 |
| 2017-01-28 10:32:00 | Study provides further evidence that mutated AMMECR1 gene is responsible for this clinically recognizable X-linked condition, Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex) with variable expressivity. | 28089922 |
| 2010-01-21 00:00:00 | PH0010 from Pyrococcus horikoshii is highly homologous to human AMMECR 1C-terminal region | 15558565 |
| Type | IDs |
|---|---|
| Synonymous | AMMERC1, MFHIEN |
| Gene |
UniProtKB-ID:
AMMR1_HUMAN,
A0A0S2Z4X0_HUMAN,
A0A0S2Z4V0_HUMAN
UniprotKB:
Q9Y4X0,
A0A0S2Z4X0,
A0A0S2Z4V0
UniParc:
UPI00001F87EF,
UPI0000223FE3,
UPI0000070CE7,
UPI000006E66F
EMBL:
BC060813,
AJ012227,
AJ012224,
AJ012223,
CH471120,
KU178497,
AL079334,
AK091430,
AJ007014,
AL031319,
AJ012225,
KU178496,
AJ012221,
AJ012226,
AJ012222,
AL359079
Ensembl:
ENSG00000101935
KO:
hsa:9949
|
| Nucleutide sequences |
EMBL-CDS:
CAI41539.1,
CAB45546.1,
CAI42537.1,
CAI42703.1,
CAB58123.1,
CAI42704.1,
CAI42538.1,
BAG52359.1,
CAI41540.1,
CAB58122.1,
AAH60813.1,
EAX02663.1,
ALQ33955.1,
ALQ33954.1
Gene_ORFName:
hCG_20302
Ensembl_TRS:
ENST00000372059,
ENST00000372057,
ENST00000262844
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000361129,
ENSP00000262844,
ENSP00000361127
RefSeq:
NP_001165160.1,
NP_056180.1,
NP_001020751.1
|
| Others |
UniRef100:
UniRef100_A0A2J8VAJ6,
UniRef100_Q9Y4X0
UniRef90:
UniRef90_A0A2K5CZS9,
UniRef90_Q9Y4X0
UniRef50:
UniRef50_Q9Y4X0,
UniRef50_H9GJF0
UniGene:
Hs.656243
CCDS:
CCDS14551.1,
CCDS55476.1,
CCDS35368.1
|
| {{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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