NFIB
entrez
4781
canonical
uniprot
O00712
canonical
ensembl
ENSG00000147862
resolver
ensp
ENSP00000370308
resolver
ensp
ENSP00000370321
resolver
ensp
ENSP00000370340
resolver
ensp
ENSP00000370346
resolver
ensp
ENSP00000380705
resolver
ensp
ENSP00000380709
resolver
ensp
ENSP00000380711
resolver
ensp
ENSP00000442888
resolver
ensp
ENSP00000475813
resolver
ensp
ENSP00000490020
resolver
ensp
ENSP00000490588
resolver
ensp
ENSP00000490762
resolver
ensp
ENSP00000490864
resolver
ensp
ENSP00000490945
resolver
ensp
ENSP00000496424
resolver
ensp
ENSP00000547643
resolver
ensp
ENSP00000658530
resolver
enst
ENST00000380921
resolver
enst
ENST00000380934
resolver
enst
ENST00000397575
resolver
enst
ENST00000397579
resolver
enst
ENST00000397581
resolver
enst
ENST00000606230
resolver
enst
ENST00000636057
resolver
enst
ENST00000636432
resolver
enst
ENST00000636735
resolver
enst
ENST00000637640
resolver
enst
ENST00000646622
resolver
genesymbol
NFIB
resolver
hgnc
HGNC:7785
resolver
uniprot
A0A0A0MRX8
resolver
uniprot
A0A1B0GU97
resolver
uniprot
A0A1B0GVN4
resolver
uniprot
A0A1B0GW37
resolver
uniprot
A0A1B0GWB8
resolver
uniprot
A0A2R8Y7V8
resolver
uniprot
G3V1P1
resolver
uniprot
H7BYE8
resolver
uniprot
O00166
resolver
uniprot
Q12858
resolver
uniprot
Q5VW26
resolver
uniprot
Q5VW27
resolver
uniprot
Q5VW28
resolver
uniprot
Q5VW29
resolver
uniprot
Q5VW30
resolver
uniprot
Q5W0Y9
resolver
uniprot
Q63HM5
resolver
uniprot
Q6ZNF9
resolver
uniprot
Q96J45
resolver
uniprot
U3KQE8
resolver
uniprot_entry
A0A0A0MRX8_HUMAN
resolver
uniprot_entry
A0A1B0GU97_HUMAN
resolver
uniprot_entry
A0A1B0GVN4_HUMAN
resolver
uniprot_entry
A0A1B0GW37_HUMAN
resolver
uniprot_entry
A0A1B0GWB8_HUMAN
resolver
uniprot_entry
A0A2R8Y7V8_HUMAN
resolver
uniprot_entry
NFIB_HUMAN
resolver
uniprot_entry
Q5VW26_HUMAN
resolver
uniprot_entry
Q5VW27_HUMAN
resolver
uniprot_entry
Q5VW28_HUMAN
resolver
uniprot_entry
Q5VW30_HUMAN
resolver
uniprot_entry
Q5W0Y9_HUMAN
resolver
uniprot_entry
U3KQE8_HUMAN
resolver
uniprot_sec
G3V1P1
resolver
uniprot_sec
H7BYE8
resolver
uniprot_sec
O00166
resolver
uniprot_sec
Q12858
resolver
uniprot_sec
Q5VW29
resolver
uniprot_sec
Q63HM5
resolver
uniprot_sec
Q6ZNF9
resolver
uniprot_sec
Q96J45
resolver
amino_acid_sequence
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQSWYLG
uniprot
proteins
disease_involvement
DISEASE: Macrocephaly, acquired, with impaired intellectual development (MACID) [MIM:618286]: An autosomal dominant disorder characterized by postnatal macrocephaly and borderline to mild intellectual disability. Additional variable neurodevelopmental features include muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioral abnormalities. Some patients present corpus callosum dysgenesis. {ECO:0000269|PubMed:30388402}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402). Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. {ECO:0000269|PubMed:30388402}.
uniprot
proteins
mass_dalton
47442
uniprot
proteins
protein_family
CTF/NF-I family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30388402
uniprot
proteins
pubmed
31375868
uniprot
proteins
pubmed
7590749
uniprot
proteins
pubmed
9099724
uniprot
proteins
pubmed
9484777
uniprot
proteins
sequence_length
420
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins