Type | Description |
---|---|
Definition | regulatory factor X associated ankyrin containing protein |
Date | Results | Publications |
---|---|---|
2020-09-19 16:30:00 | Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK. | 31864703 |
2019-09-14 11:49:00 | this study reports an 8 month-old girl with MHC class II deficiency with a novel homozygous mutation in RFXANK gene and normal CD4+ T cell counts, diagnosed by whole exome sequencing and negative HLA-DR proteins on peripheral blood mononuclear cell in flow cytometry | 30644704 |
2019-06-22 12:10:00 | these data identify a novel caspase-2-interacting factor, RFXANK, and indicate a potential non-apoptotic role for the enzyme in the control of MHC class II gene regulation. | 29362422 |
2016-10-22 11:26:00 | mutation results in Bare Lymphocyte Syndrome, Type 2 in a child of Mexican descent | 26634365 |
2012-01-07 11:34:00 | genetic, clinical, and immunologic features of 35 patients from 30 unrelated kindreds from North Africa sharing the same RFXANK founder mutation, a 26-bp deletion called I5E6-25_I5E6 + 1) | 21908431 |
Type | IDs |
---|---|
Synonymous | ANKRA1, BLS, F14150_1, RFX-B |
Gene |
UniProtKB-ID:
RFXK_HUMAN,
A0A024R7P0_HUMAN,
A0A024R7M1_HUMAN
UniprotKB:
O14593,
A0A024R7P0,
A0A024R7M1
UniParc:
UPI000002B24A,
UPI00006E2226,
UPI0004438037,
UPI000003340B
EMBL:
CH471106,
AC003110,
AF077196,
AC002126,
BC114558,
BC114563,
AF105428,
CR542199,
AF105427,
AF094760
Ensembl:
ENSG00000064490
KO:
hsa:8625
|
Nucleutide sequences |
EMBL-CDS:
EAW84795.1,
AAI14564.1,
AAD17972.1,
CAG46996.1,
AAB86654.1,
AAD17973.1,
AAI14559.1,
AAC69883.1,
AAD26991.1,
EAW84798.1,
EAW84799.1,
EAW84797.1
Gene_ORFName:
hCG_38560,
hCG_38560
Ensembl_TRS:
ENST00000456252,
ENST00000303088,
ENST00000407360,
ENST00000392324
|
Protein sequencees |
Ensembl_PRO:
ENSP00000409138,
ENSP00000384572,
ENSP00000305071,
ENSP00000376138
RefSeq:
XP_005260192.1,
NP_003712.1,
NP_001357165.1,
NP_001357166.1,
NP_001265657.1,
XP_005260194.1,
NP_001357167.1,
NP_001357164.1,
NP_001357162.1,
XP_005260191.1,
NP_604389.1,
NP_001357163.1,
NP_001265656.1
|
Others |
UniRef100:
UniRef100_A0A024R7P0,
UniRef100_O14593
UniRef90:
UniRef90_O14593,
UniRef90_O14593-3
UniRef50:
UniRef50_O14593
UniGene:
Hs.153629,
Hs.296776
CCDS:
CCDS62611.1,
CCDS12395.1
|
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Refseq |
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