2. Gene
  3. NFIX - nuclear factor I X Gene

NFIX - nuclear factor I X Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 4784 | Gene type: protein coding

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 Reference 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 Reference 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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09253 NFIX Human Pre-designed siRNA Set A Pre-designed Sets / 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