2. Gene
  3. NFIA - nuclear factor I A Gene

NFIA - nuclear factor I A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：核因子 IA

种属: Homo sapiens

同用名: CTF; NF1-A; NFI-A; NFI-L; BRMUTD; NF-I/A

基因 ID: 4774 | 基因类型: protein coding

关于 NFIA

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:61,077,227-61,462,788 (from NCBI)

This gene has 31 transcripts (splice variants), 224 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 9.2), thyroid (RPKM 8.8) and 25 other tissues.

功能概要

该基因编码 NF1 (核因子 1) 转录因子家族的成员。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2011 年 9 月]

This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

NFIA 基因产物(4)

mRNA Protein Name
NM_001134673.4 NP_001128145.1 nuclear factor 1 A-type isoform 1
NM_001145511.2 NP_001138983.1 nuclear factor 1 A-type isoform 3
NM_001145512.2 NP_001138984.1 nuclear factor 1 A-type isoform 4
NM_005595.5 NP_005586.1 nuclear factor 1 A-type isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
17010934 GOA
enables DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
15684392 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
17010934 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
26871637 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
17010934 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
15684392 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

NFIA 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 - 170)

CTF_NFI

CTF_NFI: CTF/NF-I family transcription modulation region (214 - 509)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 509 a.a.
蛋白主名 其他名称

nuclear factor 1 A-type

CCAAT-box-binding transcription factor

关联疾病

疾病名称 别名
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
Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate
Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos
Marshall-Smith Syndrome

MRSHSS

Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome

Mss
Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic
Cellular Neurofibroma
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09249 NFIA Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20782 Nfia Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27296 Nfia Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus NFIA VGNC VGNC:32038
Canis familiaris NFIA VGNC VGNC:43775
Rattus norvegicus NFIA RGD RGD:3170
Mus musculus NFIA MGD MGI:108056
Felis catus NFIA VGNC VGNC:68477
Macaca mulatta NFIA VGNC VGNC:75334
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