| Type | Description |
|---|---|
| Definition | PAX3 and PAX7 binding protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2018-07-07 11:58:00 | A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia has been reported. | 28542722 |
| 2011-09-14 12:13:00 | The GCFC1/C21orf66 distal promoter contains an inhibitory cis-regulatory element that is responsive to Trichostatin A (TSA) treatment according to promoter reporter assays in HEK 293 cells. | 20494980 |
| Type | IDs |
|---|---|
| Synonymous | BM020, C21orf66, FSAP105, GCFC, GCFC1 |
| Gene |
UniProtKB-ID:
PAXB1_HUMAN,
Q8N6E6_HUMAN
UniprotKB:
Q9Y5B6,
Q8N6E6
UniParc:
UPI000002AA49,
UPI0000073840,
UPI000012B294,
UPI000002AA4A,
UPI00000726C1
EMBL:
AY033903,
BC030539,
CH471079,
AF231920,
AJ279080,
AY033906,
AJ279081,
AY033905,
AY033904,
AF153208
Ensembl:
ENSG00000263141,
ENSG00000159086
KO:
hsa:94104
|
| Nucleutide sequences |
EMBL-CDS:
AAD34617.1,
CAC40814.1,
AAK68724.1,
EAX09861.1,
AAK68721.1,
AAK68723.1,
AAK68722.1,
CAC40813.1,
EAX09859.1,
AAF72944.1,
AAH30539.1
Ensembl_TRS:
ENST00000290178,
ENST00000574159,
ENST00000443785,
ENST00000331923,
ENST00000573680
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000458262,
ENSP00000393038,
ENSP00000290178,
ENSP00000328992,
ENSP00000458892
RefSeq:
NP_057715.2,
XP_011528106.1,
XP_006724129.1,
NP_037461.2
|
| Others |
UniRef100:
UniRef100_Q9Y5B6
UniRef90:
UniRef90_P58501
UniRef50:
UniRef50_P58501
UniGene:
Hs.644004
CCDS:
CCDS33541.1,
CCDS13619.1
|
| {{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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