CEBPE
entrez
1053
canonical
uniprot
Q15744
canonical
ensembl
ENSG00000092067
resolver
ensp
ENSP00000206513
resolver
enst
ENST00000206513
resolver
genesymbol
CEBPE
resolver
hgnc
HGNC:1836
resolver
uniprot
Q15745
resolver
uniprot
Q8IYI2
resolver
uniprot
Q99803
resolver
uniprot_entry
CEBPE_HUMAN
resolver
uniprot_sec
Q15745
resolver
uniprot_sec
Q8IYI2
resolver
uniprot_sec
Q99803
resolver
amino_acid_sequence
MSHGTYYECEPRGGQQPLEFSGGRAGPGELGDMCEHEASIDLSAYIESGEEQLLSDLFAVKPAPEARGLKGPGTPAFPHYLPPDPRPFAYPPHTFGPDRKALGPGIYSSPGSYDPRAVAVKEEPRGPEGSRAASRGSYNPLQYQVAHCGQTAMHLPPTLAAPGQPLRVLKAPLATAAPPCSPLLKAPSPAGPLHKGKKAVNKDSLEYRLRRERNNIAVRKSRDKAKRRILETQQKVLEYMAENERLRSRVEQLTQELDTLRNLFRQIPEAANLIKGVGGCS
uniprot
proteins
disease_involvement
DISEASE: Specific granule deficiency 1 (SGD1) [MIM:245480]: An immunologic disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. Neutrophils of affected individuals lack lactoferrin and show abnormal nuclear segmentation, bilobed nuclei, low alkaline phosphatase, and increased number of neutrophil mitochondria and ribosomes. SGD1 inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:10359588, ECO:0000269|PubMed:11313242, ECO:0000269|PubMed:17244686, ECO:0000269|PubMed:26019275, ECO:0000269|PubMed:29651288, ECO:0000269|PubMed:32391290}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Immunodeficiency 108 with autoinflammation (IMD108) [MIM:260570]: An autosomal recessive disorder characterized by autoinflammation and immune impairment of neutrophils, manifesting around adolescence. Affected individuals have recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers. Additional features include recurrent infections, particularly of the skin and nails, poor wound healing, and mild bleeding tendencies. {ECO:0000269|PubMed:31201888}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator (PubMed:26019275). C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Required for the promyelocyte-myelocyte transition in myeloid differentiation (PubMed:10359588). {ECO:0000269|PubMed:10359588, ECO:0000269|PubMed:26019275}.
uniprot
proteins
mass_dalton
30603
uniprot
proteins
post_translational_modification
PTM: Phosphorylated.
uniprot
proteins
protein_family
BZIP family
uniprot
proteins
protein_family
C/EBP subfamily
uniprot
proteins
pubmed
10359588
uniprot
proteins
pubmed
11313242
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17244686
uniprot
proteins
pubmed
26019275
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28369036
uniprot
proteins
pubmed
29651288
uniprot
proteins
pubmed
31201888
uniprot
proteins
pubmed
32391290
uniprot
proteins
pubmed
8661101
uniprot
proteins
pubmed
9032264
uniprot
proteins
sequence_length
281
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11313242, ECO:0000269|PubMed:26019275}.
uniprot
proteins