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

NFIX - nuclear factor I X Gene

中文名称:核因子 IX

种属: Homo sapiens

同用名: CTF; NF1A; MALNS; NF1-X; MRSHSS; NF-I/X; SOTOS2

基因 ID: 4784 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种转录因子,可结合病毒和细胞启动子中的回文序列 5'-TTGGCNNNNNGCCAA-3。编码的蛋白质还可以在体外刺激腺病毒复制。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供,2012 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
21953450 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
19706729 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
19706729 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

NFIX 蛋白结构

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.
蛋白主名 其他名称

nuclear factor 1 X-type

CCAAT-box-binding transcription factor

NFIX 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
NFIX Q14938 QRICH1 Homo sapiens Q2TAL8 25416956
种属内
NFIX Q14938 QRICH1 Homo sapiens Q2TAL8 25416956
种属内
NFIX Q14938 ZNF614 Homo sapiens Q8N883 25416956
种属内
NFIX Q14938 ZNF614 Homo sapiens Q8N883 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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