| Type | Description |
|---|---|
| Definition | mab-21 like 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-06 13:37:00 | This report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis. | 30487245 |
| 2018-08-11 11:48:00 | Mab21l1-/- osteoblasts also expressed higher levels of adipocyte genes and interferon-regulated genes at early stages of osteogenesis | 29156428 |
| 2018-05-05 11:20:00 | offer a structure-based explanation for the effects of MAB21L2 mutations in patients with eye malformations | 27271801 |
| 2017-11-26 01:38:00 | mab21 gene family members, mab21l1 and mab21l2, play important roles in regulating eye development. [review] | 27558071 |
| 2017-07-01 12:50:00 | We hypothesize that MAB21L1 haploinsufficiency cause a previously undescribed syndrome with scrotal agenesis, ophthalmological anomalies, facial dysmorphism and gross psychomotor delay as remarkable hallmarks. | 27103078 |
| Type | IDs |
|---|---|
| Synonymous | CAGR1, Nbla00126 |
| Gene |
UniProtKB-ID:
MB211_HUMAN,
B2R805_HUMAN,
F1T0A2_HUMAN
UniprotKB:
Q13394,
B2R805,
F1T0A2
UniParc:
UPI0000022CD2,
UPI000175054A
EMBL:
AK313185,
U38810,
AB073388,
AL390071,
AB593022,
AB593021,
CR457420,
BC028170,
CH471075
Ensembl:
ENSG00000180660
KO:
hsa:4081
|
| Nucleutide sequences |
EMBL-CDS:
AAB47576.1,
CAG33701.1,
BAE45718.1,
AAH28170.1,
EAX08547.1,
BAG36002.1,
BAJ83976.1,
BAJ83977.1
Gene_ORFName:
Nbla00126
Ensembl_TRS:
ENST00000379919
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000369251
RefSeq:
NP_005575.1
|
| Others |
UniRef100:
UniRef100_Q13394,
UniRef100_B2R805
UniRef90:
UniRef90_Q13394,
UniRef90_Q0V9X7
UniRef50:
UniRef50_Q6NYB4,
UniRef50_Q13394
UniGene:
Hs.584776
CCDS:
CCDS9353.1
|
| {{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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