SPI1
entrez
6688
canonical
uniprot
P17947
canonical
ensembl
ENSG00000066336
resolver
ensp
ENSP00000227163
resolver
ensp
ENSP00000367799
resolver
ensp
ENSP00000518839
resolver
enst
ENST00000713543
resolver
genesymbol
SPI1
resolver
hgnc
HGNC:11241
resolver
uniprot
A0AAA9YHK5
resolver
uniprot_entry
A0AAA9YHK5_HUMAN
resolver
uniprot_entry
SPI1_HUMAN
resolver
activity_regulation
ACTIVITY REGULATION: Transcriptional activity at macrophage-specific genes is inhibited by interaction with GFI1, which results in the inhibition of SPI1-induced macrophage differentiation of myeloid progenitor cells, but not that of the granulocyte lineage. {ECO:0000250|UniProtKB:P17433}.
uniprot
proteins
amino_acid_sequence
MLQACKMEGFPLVPPPSEDLVPYDTDLYQRQTHEYYPYLSSDGESHSDHYWDFHPHHVHSEFESFAENNFTELQSVQPPQLQQLYRHMELEQMHVLDTPMVPPHPSLGHQVSYLPRMCLQYPSLSPAQPSSDEEEGERQSPPLEVSDGEADGLEPGPGLLPGETGSKKKIRLYQFLLDLLRSGDMKDSIWWVDKDKGTFQFSSKHKEALAHRWGIQKGNRKKMTYQKMARALRNYGKTGEVKKVKKKLTYQFSGEVLGRGGLAERRHPPH
uniprot
proteins
disease_involvement
DISEASE: Agammaglobulinemia 10, autosomal dominant (AGM10) [MIM:619707]: A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269|PubMed:33951726}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites. Once in open chromatin, can directly control gene expression by binding genetic regulatory elements and can also more broadly influence transcription by recruiting transcription factors, such as interferon regulatory factors (IRFs), to otherwise inaccessible genomic regions (PubMed:23658224, PubMed:33951726). Transcriptionally activates genes important for myeloid and lymphoid lineages, such as CSF1R (By similarity). Transcriptional activation from certain promoters, possibly containing low affinity binding sites, is achieved cooperatively with other transcription factors. FCER1A transactivation is achieved in cooperation with GATA1 (By similarity). May be particularly important for the pro- to pre-B cell transition (PubMed:33951726). Binds (via the ETS domain) onto the purine-rich DNA core sequence 5'-GAGGAA-3', also known as the PU-box (PubMed:33951726). In vitro can bind RNA and interfere with pre-mRNA splicing (By similarity). {ECO:0000250|UniProtKB:P17433, ECO:0000250|UniProtKB:Q6BDS1, ECO:0000269|PubMed:23658224, ECO:0000269|PubMed:33951726}.
uniprot
proteins
mass_dalton
31083
uniprot
proteins
protein_family
ETS family
uniprot
proteins
pubmed
10196196
uniprot
proteins
pubmed
10207087
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
1693183
uniprot
proteins
pubmed
17197705
uniprot
proteins
pubmed
23166356
uniprot
proteins
pubmed
23658224
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26019275
uniprot
proteins
pubmed
33951726
uniprot
proteins
sequence_length
270
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00237, ECO:0000269|PubMed:33951726}.
uniprot
proteins