NFIX - nuclear factor I X Gene

Also Known as CTF; NF1A; MALNS; NF1-X; MRSHSS; NF-I/X; SOTOS2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4784

About NFIX

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,995,475-13,098,796 (from NCBI)

This gene has 17 transcripts (splice variants), 283 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 36.5), fat (RPKM 32.4) and 23 other tissues.

Summary

The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

NFIX Products (10)

mRNA Protein Name
NM_001271043.2 NP_001257972.1 nuclear factor 1 X-type isoform 1
NM_001271044.3 NP_001257973.1 nuclear factor 1 X-type isoform 3
NM_001365902.3 NP_001352831.1 nuclear factor 1 X-type isoform 4
NM_001365982.2 NP_001352911.1 nuclear factor 1 X-type isoform 5
NM_001365983.2 NP_001352912.1 nuclear factor 1 X-type isoform 6
NM_001365984.2 NP_001352913.1 nuclear factor 1 X-type isoform 7
NM_001365985.2 NP_001352914.1 nuclear factor 1 X-type isoform 8
NM_001378404.1 NP_001365333.1 nuclear factor 1 X-type isoform 9
NM_001378405.1 NP_001365334.1 nuclear factor 1 X-type isoform 10
NM_002501.4 NP_002492.2 nuclear factor 1 X-type isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21953450 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
19706729 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
19706729 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NFIX Protein Structure

NfI_DNAbd_pre-N

NfI_DNAbd_pre-N: Nuclear factor I protein pre-N-terminus (4 - 46)

MH1

MH1: MH1 domain (69 - 169)

CTF_NFI

CTF_NFI: CTF/NF-I family transcription modulation region (213 - 502)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 502 a.a.
Protein Preferred Names Protein Names

nuclear factor 1 X-type

  • CCAAT-box-binding transcription factor

NFIX Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NFIX Q14938 QRICH1 Homo sapiens Q2TAL8
Y2H Prey Pooling
25416956
Intra
NFIX Q14938 QRICH1 Homo sapiens Q2TAL8
Y2H Array
25416956
Intra
NFIX Q14938 ZNF614 Homo sapiens Q8N883
Y2H Prey Pooling
25416956
Intra
NFIX Q14938 ZNF614 Homo sapiens Q8N883
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Malan Syndrome

  • Malan Overgrowth Syndrome

  • MALNS

  • Sotos Syndrome 2

  • Sotos Syndrome 2, Formerly

  • Sotos2, Formerly

  • Sotos2
Marshall-Smith Syndrome

  • MRSHSS

  • Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome

  • Mss
Sotos Syndrome 2

  • Sotos2

  • Sotos Syndrome, Type 2
19p13.3 Microduplication Syndrome

  • Dup(19)(P13.13)
Laryngomalacia

  • Congenital Laryngomalacia

  • Congenital Laryngeal Stridor

  • Laryngomalacia Congenital

  • Floppy Epiglottis
Exophthalmos

  • Proptosis
Megalocornea

  • Isolated Congenital Megalocornea

  • Congenital Anterior Megalophthalmia

  • Anterior Megalophthalmos

  • Mgc1

  • Mgcn

  • Congenital Keratoglobus
Strabismus

  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1
Sotos Syndrome 1

  • Sotos1

  • Sotos Syndrome, Type 1

  • Sotos' Syndrome
Sotos Syndrome 3

  • Sotos3

  • Sotos Syndrome, Type 3
Brain Malformations With Or Without Urinary Tract Defects

  • Chromosome 1p32-P31 Deletion Syndrome

  • Nfia-Related Disorder

  • Chromosome 1, Monosomy 1p32

  • BRMUTD

  • 1p31p32 Microdeletion Syndrome

  • Nfia Haploinsufficiency

  • Del(1)(P31p32)

  • Monosomy 1p31p32

  • Nfia-Related Disorders
Cornelia De Lange Syndrome 5

  • CDLS5

  • Cornelia De Lange Syndrome, Type 5
Cellular Neurofibroma
Developmental And Epileptic Encephalopathy 60

  • DEE60

  • Epileptic Encephalopathy, Early Infantile, 60

  • Eiee60

  • Developmental And Epileptic Encephalopathy, 60

  • Early Infantile Epileptic Encephalopathy 60
Sotos Syndrome

  • Cerebral Gigantism

  • SOTOS

  • Chromosome 5q35 Deletion Syndrome

  • Sotos Syndrome 1, Formerly

  • Sotos1, Formerly

  • Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

  • Sotos Sequence

  • Sotos' Syndrome

  • Sotos1

  • Sotos Syndrome 1
Marshall Syndrome

  • MRSHS

  • Deafness, Myopia, Cataract, Saddle Nose-Marshall Type

  • Periodic Fever, Aphthous Stomatitis, Pharyngitis And Adenitis

  • Pfapa Syndrome

  • Pfapa

  • Marshall Syndrome With Periodic Fever

  • Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome
Developmental And Epileptic Encephalopathy 11

  • Epileptic Encephalopathy, Early Infantile, 11

  • DEE11

  • Eiee11

  • Developmental And Epileptic Encephalopathy, 11

  • Early Infantile Epileptic Encephalopathy 11

  • Encephalopathy, Developmental And Epileptic, Type 11
Scoliosis
Weaver Syndrome

  • Wss

  • Weaver-Smith Syndrome

  • WVS

  • Weaver-Like Syndrome

  • Weaver-Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies Syndrome

  • Camptodactyly - Overgrowth - Unusual Facies

  • Ezh2 Related Overgrowth

  • Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

  • Weaver Smith Syndrome

  • Weaver Like Syndrome

  • Weaver Williams Syndrome

  • Camptodactyly-Overgrowth-Unusual Facies

  • Weaver Syndrome 1

  • Weaver Syndrome 2

  • Wvs1

  • Wvs2
Coffin-Siris Syndrome 1

  • Coffin-Siris Syndrome

  • Fifth Digit Syndrome

  • Css

  • CSS1

  • Mrd12

  • Mental Retardation, Autosomal Dominant 12

  • Hhid

  • Dwarfism-Onychodysplasia

  • Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

  • Autosomal Dominant Mental Retardation 12

  • Short Stature-Onychodysplasia.

  • Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

  • Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

  • Short Stature-Onychodysplasia

  • Coffin-Siris Syndrome, Type 1

  • Mental Retardation, Autosomal Dominant, Type 12
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09253 NFIX Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22254 Nfix Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28776 Nfix Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus NFIX MGD MGI:97311
Canis familiaris NFIX VGNC VGNC:43779
Rattus norvegicus NFIX RGD RGD:69080
Bos taurus NFIX VGNC VGNC:32042
Felis catus NFIX VGNC VGNC:68479
Macaca mulatta NFIX VGNC VGNC:75338
Others NFIX NCBI