| Type | Description |
|---|---|
| Definition | RNA binding motif protein 28 |
| Date | Results | Publications |
|---|---|---|
| 2017-10-07 11:09:00 | The authors conclude that the ANE syndrome mutation generates defective RBM28 protein folding which abrogates protein-protein interactions and causes faulty pre-large subunit rRNA processing, thus revealing one aspect of the molecular basis of this human disease. | 27077951 |
| 2016-05-21 12:42:00 | RBM28 controls the expression of miR-203. RBM28 contributes to hair follicle growth regulation through modulation of miR-203 and p63 activity. | 25939713 |
| 2010-07-05 12:01:00 | RBM28 gene defects should be added to the growing list of gene defects associated with syndromic combined anterior pituitary hormone deficiency. | 20231366 |
| 2010-01-21 00:00:00 | RBM28 is a common nucleolar component of the spliceosomal ribonucleoprotein complexes, possibly coordinating their transition through the nucleolus | 17081119 |
| 2010-01-21 00:00:00 | A loss-of-function mutation is found in RBM28, encoding a nucleolar protein in patients with alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). | 18439547 |
| Type | IDs |
|---|---|
| Synonymous | ANES |
| Gene |
UniProtKB-ID:
RBM28_HUMAN,
A0A024R753_HUMAN
UniprotKB:
Q9NW13,
A0A024R753
UniParc:
UPI000006FFF1,
UPI0001AE70F3
EMBL:
AC010655,
AK222716,
AC018635,
KU178685,
AK001239,
CH236947,
CH471070,
AK300500,
BC013889
Ensembl:
ENSG00000106344
KO:
hsa:55131
|
| Nucleutide sequences |
EMBL-CDS:
EAL24314.1,
EAW83643.1,
BAG62214.1,
BAD96436.1,
AAH13889.1,
BAA91575.1,
EAW83644.1,
ALQ34143.1
Gene_ORFName:
hCG_33003
Ensembl_TRS:
ENST00000415472,
ENST00000223073
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000223073,
ENSP00000390517
RefSeq:
NP_001159607.1,
XP_016867879.1,
XP_011514672.1,
XP_016867878.1,
NP_060547.2
|
| Others |
UniRef100:
UniRef100_Q9NW13
UniRef90:
UniRef90_Q9NW13
UniRef50:
UniRef50_Q9NW13
UniGene:
Hs.274263
CCDS:
CCDS55159.1,
CCDS5801.1
|
| {{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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