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  2. NFIA - nuclear factor I A Gene

NFIA - nuclear factor I A Gene

Homo sapiens

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

Gene ID: 4774 | Gene type: protein coding

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

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

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