NFIX
entrez
4784
canonical
uniprot
Q14938
canonical
ensembl
ENSG00000008441
resolver
ensp
ENSP00000351354
resolver
ensp
ENSP00000353219
resolver
ensp
ENSP00000380781
resolver
ensp
ENSP00000466389
resolver
ensp
ENSP00000466735
resolver
ensp
ENSP00000467512
resolver
ensp
ENSP00000467785
resolver
ensp
ENSP00000468794
resolver
ensp
ENSP00000502554
resolver
ensp
ENSP00000683152
resolver
enst
ENST00000676441
resolver
genesymbol
NFIX
resolver
hgnc
HGNC:7788
resolver
uniprot
A0A6Q8PH96
resolver
uniprot
B4DHW2
resolver
uniprot
B4DM25
resolver
uniprot
D2DXM9
resolver
uniprot
O60413
resolver
uniprot
Q0VG09
resolver
uniprot
Q12859
resolver
uniprot
Q13050
resolver
uniprot
Q13052
resolver
uniprot
Q5U094
resolver
uniprot
Q9UPH1
resolver
uniprot
Q9Y6R8
resolver
uniprot_entry
A0A6Q8PH96_HUMAN
resolver
uniprot_entry
B4DHW2_HUMAN
resolver
uniprot_entry
D2DXM9_HUMAN
resolver
uniprot_entry
NFIX_HUMAN
resolver
uniprot_sec
B4DM25
resolver
uniprot_sec
O60413
resolver
uniprot_sec
Q0VG09
resolver
uniprot_sec
Q12859
resolver
uniprot_sec
Q13050
resolver
uniprot_sec
Q13052
resolver
uniprot_sec
Q5U094
resolver
uniprot_sec
Q9UPH1
resolver
uniprot_sec
Q9Y6R8
resolver
amino_acid_sequence
MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQKWASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHLSFQDCFVTSGVWNVTELVRVSQTPVATASGPNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKSIDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGPASLKKSGKLDFCSALSSQGSSPRMAFTHHPLPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLKEFVQFVCSDGSGQATGQPNGSGQGKVPGSFLLPPPPPVARPVPLPMPDSKSTSTAPDGAALTPPSPSFATTGASSANRFVSIGPRDGNFLNIPQQSQSWFL
uniprot
proteins
disease_involvement
DISEASE: Malan syndrome (MALNS) [MIM:614753]: An autosomal dominant syndrome characterized by overgrowth, advanced bone age, macrocephaly, impaired intellectual development, behavior anomalies, and dysmorphic facial features. Patients develop marfanoid habitus, with long and slender body, very low body mass, long narrow face, and arachnodactyly. {ECO:0000269|PubMed:20673863, ECO:0000269|PubMed:22301465, ECO:0000269|PubMed:26193383, ECO:0000269|PubMed:26200704}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Marshall-Smith syndrome (MRSHSS) [MIM:602535]: A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, intellectual disability, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis. Inheritance is autosomal dominant. {ECO:0000269|PubMed:20673863, ECO:0000269|PubMed:26200704}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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.
uniprot
proteins
mass_dalton
55098
uniprot
proteins
protein_family
CTF/NF-I family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20673863
uniprot
proteins
pubmed
22301465
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26193383
uniprot
proteins
pubmed
26200704
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31375868
uniprot
proteins
pubmed
7590749
uniprot
proteins
pubmed
7937100
uniprot
proteins
pubmed
8799200
uniprot
proteins
sequence_length
502
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins