NFIA - nuclear factor I A Gene

Also Known as CTF; NF1-A; NFI-A; NFI-L; BRMUTD; NF-I/A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4774

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
17010934 GOA
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
15684392 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
17010934 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
26871637 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
17010934 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in nucleus IDA
IDA: Inferred from direct assay
15684392 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

NFIA Protein Structure

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.
Protein Preferred Names Protein Names

nuclear factor 1 A-type

  • CCAAT-box-binding transcription factor

Related Diseases

Diseases Alias
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
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)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS09249 NFIA Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20782 Nfia Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27296 Nfia Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others NFIA NCBI