NFIB nuclear factor I B [Homo sapiens (human)] - Gene

Summary

Official Symbol: NFIBprovided by HGNC
Official Full Name: nuclear factor I Bprovided by HGNC
Primary source: HGNC:HGNC:7785
See related: Ensembl:ENSG00000147862 MIM:600728; Vega:OTTHUMG00000021027
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CTF; NF1-B; NFI-B; NFIB2; NFIB3; NF-I/B; NFI-RED; HMGIC/NFIB
Orthologs: mouse all

Genomic context

See NFIB in Genome Data Viewer Map Viewer

Location:: 9p23-p22.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
108	current	GRCh38.p7 (GCF_000001405.33)	9	NC_000009.12 (14081843..14398983, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (14081842..14398982, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

low expression of NFIB was significantly associated with biologically more aggressive subtypes and, ultimately, poorer survival in lung adenocarcinoma patients
Title: Developmental transcription factor NFIB is a putative target of oncofetal miRNAs and is associated with tumour aggressiveness in lung adenocarcinoma.
Data indicate that NFIB protein increases EZH2 protein expression downstream of BRN2 protein, which further decreases MITF protein levels.
Title: NFIB Mediates BRN2 Driven Melanoma Cell Migration and Invasion Through Regulation of EZH2 and MITF.
Our study defines new molecular subclasses of ACC characterized by MYBL1 rearrangements and 5'-NFIB gene fusions.
Title: Novel MYBL1 Gene Rearrangements with Recurrent MYBL1-NFIB Fusions in Salivary Adenoid Cystic Carcinomas Lacking t(6;9) Translocations.
In benign prostatic hyperplasia, luminal NFIB loss correlated with more severe disease. in androgen-dependent LNCaP prostate cancer cells demonstrated that 64.3% of NFIB binding sites are associated with AR and FOXA1 binding sites.
Title: Nfib Regulates Transcriptional Networks That Control the Development of Prostatic Hyperplasia.
These data suggest that germline genetic variation at rs7034162 is important in osteosarcoma metastasis and that NFIB is an osteosarcoma metastasis susceptibility gene.
Title: A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma.
Further studies also discovered a conserved feedback regulatory circuitry formed by NFIB and miR-365 in cutaneous squamous cell carcinoma development
Title: miR-365 promotes cutaneous squamous cell carcinoma (CSCC) through targeting nuclear factor I/B (NFIB).
multivariate analysis co-overexpression of NFIB, RANK and RANKL significantly increased the risk of metastasis with an odds ratio of 13.59
Title: Prognostic role of nuclear factor/IB and bone remodeling proteins in metastatic giant cell tumor of bone: A retrospective study.
TGF-beta-mediated suppression of ANT2 through NF1/Smad4 complexes contributes to oxidative stress and DNA damage during induction of cellular senescence.
Title: TGF-β/NF1/Smad4-mediated suppression of ANT2 contributes to oxidative stress in cellular senescence.
Increased expression of NF1B is associated with pilocytic astrocytoma.
Title: MicroRNA profiling in pediatric pilocytic astrocytoma reveals biologically relevant targets, including PBX3, NFIB, and METAP2.
The data demonstrates that the autism spectrum disorder-associated A-C intronic haplotype of the ENGRAILED2 gene is a transcriptional activator, and both CUX1 and NFIB mediate this activity.
Title: Cut-like homeobox 1 and nuclear factor I/B mediate ENGRAILED2 autism spectrum disorder-associated haplotype function.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of NFI-B by shRNA enhances HIV-1 replication in peripheral blood mononuclear cells (PBMCs) and in Jurkat cells	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
FOXA1 transcription factor network, organism-specific biosystem
FOXA1 transcription factor network
Gene Expression, organism-specific biosystem (from REACTOME)
Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription, organism-specific biosystem (from REACTOME)
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription, organism-specific biosystemTranscription by RNA Polymerase I, RNA Polymerase III and transcription from mitochondrial promoters.
RNA Polymerase III Abortive And Retractive Initiation, organism-specific biosystem (from REACTOME)
RNA Polymerase III Abortive And Retractive Initiation, organism-specific biosystemAbortive initiation, the repetitive formation of short oligonucleotides, is a ubiquitous feature of transcriptional initiation. This Pathway contains events inferred from events in Saccharomyces cer...
RNA Polymerase III Transcription, organism-specific biosystem (from REACTOME)
RNA Polymerase III Transcription, organism-specific biosystemRNA polymerase III is one of three types of nuclear RNA polymerases present in eucaryotic cells. About 10% of the total transcription in dividing cells can be attributed to its activity. It synthes...
RNA Polymerase III Transcription Termination, organism-specific biosystem (from REACTOME)
RNA Polymerase III Transcription Termination, organism-specific biosystem
RNA Polymerase III Transcription Termination

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH123249 (e-PCR)
- UniSTS:138014

A004O32 (e-PCR)
- UniSTS:83500

SHGC-152211 (e-PCR)
- UniSTS:184108

SHGC-151148 (e-PCR)
- UniSTS:173398

Nfib (e-PCR), detects polymorphism
- UniSTS:527449

RH118871 (e-PCR)
- UniSTS:138851

RH78074 (e-PCR)
- UniSTS:14692

SHGC-86156 (e-PCR)
- UniSTS:104804

D9S274 (e-PCR), detects polymorphism
- UniSTS:77675

D9S1869 (e-PCR), detects polymorphism
- UniSTS:32628

RH104353 (e-PCR)
- UniSTS:98678

RH120407 (e-PCR)
- UniSTS:132218

RH122803 (e-PCR)
- UniSTS:135038

MARC_17865-17866:1025013775:1 (e-PCR)
- UniSTS:268427

D9S274 (e-PCR), detects polymorphism
- UniSTS:80030

D8S1564E (e-PCR)
- UniSTS:153761

A006V16 (e-PCR)
- UniSTS:41122

EST12E1 (e-PCR)
- UniSTS:263076

D9S2012 (e-PCR)
- UniSTS:82852

SHGC-149957 (e-PCR)
- UniSTS:177331

SHGC-82205 (e-PCR)
- UniSTS:103102

RH80854 (e-PCR)
- UniSTS:89539

SHGC-146176 (e-PCR)
- UniSTS:175057

RH119845 (e-PCR)
- UniSTS:133590

D9S1065E (e-PCR)
- UniSTS:151282

WI-14235 (e-PCR)
- UniSTS:80885

Homology

Homologs of the NFIB gene: The NFIB gene is conserved in chimpanzee, dog, mouse, rat, chicken, and frog.
Orthologs from Annotation Pipeline: 211 organisms have orthologs with human gene NFIB
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II core promoter proximal region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II transcription factor activity, sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
Clara cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
DNA replication	IEA Inferred from Electronic Annotation more info
Type I pneumocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
Type II pneumocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
anterior commissure morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
cell differentiation involved in salivary gland development	IEA Inferred from Electronic Annotation more info
chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
commissural neuron axon guidance	ISS Inferred from Sequence or Structural Similarity more info
glial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
hindbrain development	IEA Inferred from Electronic Annotation more info
lung ciliated cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of epithelial cell proliferation involved in lung morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of mesenchymal cell proliferation involved in lung development	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of pri-miRNA transcription from RNA polymerase II promoter	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
principal sensory nucleus of trigeminal nerve development	ISS Inferred from Sequence or Structural Similarity more info
salivary gland cavitation	IEA Inferred from Electronic Annotation more info
transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cerebellar mossy fiber	ISS Inferred from Sequence or Structural Similarity more info
fibrillar center	IDA Inferred from Direct Assay more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nuclear factor 1 B-type

Names: CCAAT-box-binding transcription factor; TGGCA-binding protein; nuclear factor 1/B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001190737.1 → NP_001177666.1 nuclear factor 1 B-type isoform 1

See identical proteins and their annotated locations for NP_001177666.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).

Source sequence(s)

AI140312, AL136366, AL441963, BX648845

Consensus CDS

CCDS55291.1

UniProtKB/Swiss-Prot

O00712

Related

ENSP00000370340.1, OTTHUMP00000022769, ENST00000380953.5, OTTHUMT00000055472

Conserved Domains (3) summary

cl00055
Location:69 → 173

MH1; N-terminal Mad Homology 1 (MH1) domain

pfam00859
Location:209 → 493

CTF_NFI; CTF/NF-I family transcription modulation region

pfam10524
Location:9 → 47

NfI_DNAbd_pre-N; Nuclear factor I protein pre-N-terminus
NM_001190738.1 → NP_001177667.1 nuclear factor 1 B-type isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences, one of which results in translation from an upstream start codon, compared to variant 1. The resulting protein (isoform 2) has a different and longer N-terminus and a shorter C-terminus when it is compared to isoform 1.

Source sequence(s)

AI140312, AK131233, AL136366, AL137017, AL441963

Consensus CDS

CCDS55292.1

UniProtKB/Swiss-Prot

O00712

UniProtKB/TrEMBL

A0A0A0MRX8

Related

ENSP00000370321.4, OTTHUMP00000280976, ENST00000380934.8, OTTHUMT00000487755

Conserved Domains (3) summary

cl00055
Location:95 → 199

MH1; N-terminal Mad Homology 1 (MH1) domain

pfam00859
Location:235 → 441

CTF_NFI; CTF/NF-I family transcription modulation region

pfam10524
Location:37 → 73

NfI_DNAbd_pre-N; Nuclear factor I protein pre-N-terminus
NM_001282787.1 → NP_001269716.1 nuclear factor 1 B-type isoform 4

See identical proteins and their annotated locations for NP_001269716.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains a distinct 5' UTR, lacks an in-frame portion of the 5' coding region and contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (4) is shorter compared to isoform 1.

Source sequence(s)

AI140312, AL441963, BP372854, BX648416

Consensus CDS

CCDS65007.1

UniProtKB/Swiss-Prot

O00712

Related

ENSP00000442888.1, ENST00000543693.5

Conserved Domains (1) summary

pfam00859
Location:1 → 237

CTF_NFI; CTF/NF-I family transcription modulation region
NM_005596.3 → NP_005587.2 nuclear factor 1 B-type isoform 3

See identical proteins and their annotated locations for NP_005587.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks alternate exons in the 3' end, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.

Source sequence(s)

AI140312, AL441963, BC001283, BX648845, DA785516

Consensus CDS

CCDS6474.1

UniProtKB/Swiss-Prot

O00712

UniProtKB/TrEMBL

Q5VW28

Related

ENSP00000370346.3, OTTHUMP00000022765, ENST00000380959.7, OTTHUMT00000055468

Conserved Domains (3) summary

pfam00859
Location:209 → 415

CTF_NFI; CTF/NF-I family transcription modulation region

pfam10524
Location:10 → 47

NfI_DNAbd_pre-N; Nuclear factor I protein pre-N-terminus

cl00055
Location:69 → 173

MH1; N-terminal Mad Homology 1 (MH1) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p7 Primary Assembly

Range

14081843..14398983 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017014741.1 → XP_016870230.1 nuclear factor 1 B-type isoform X10
XM_017014740.1 → XP_016870229.1 nuclear factor 1 B-type isoform X9

UniProtKB/TrEMBL

U3KQE8

Related

ENSP00000475813.2, OTTHUMP00000273258, ENST00000606230.2, OTTHUMT00000470132
XM_005251468.4 → XP_005251525.1 nuclear factor 1 B-type isoform X3

Conserved Domains (3) summary

cl00055
Location:65 → 169

MH1; N-terminal Mad Homology 1 (MH1) domain

pfam00859
Location:205 → 494

CTF_NFI; CTF/NF-I family transcription modulation region

pfam10524
Location:4 → 43

NfI_DNAbd_pre-N; Nuclear factor I protein pre-N-terminus
XM_017014739.1 → XP_016870228.1 nuclear factor 1 B-type isoform X8
XM_006716773.2 → XP_006716836.1 nuclear factor 1 B-type isoform X2

Conserved Domains (3) summary

cl00055
Location:69 → 173

MH1; N-terminal Mad Homology 1 (MH1) domain

pfam00859
Location:209 → 497

CTF_NFI; CTF/NF-I family transcription modulation region

pfam10524
Location:9 → 47

NfI_DNAbd_pre-N; Nuclear factor I protein pre-N-terminus
XM_005251470.2 → XP_005251527.1 nuclear factor 1 B-type isoform X7

See identical proteins and their annotated locations for XP_005251527.1

UniProtKB/TrEMBL

Q5VW27

Related

ENSP00000380709.2, OTTHUMP00000022766, ENST00000397579.6, OTTHUMT00000055469

Conserved Domains (3) summary

cl00055
Location:69 → 173

MH1; N-terminal Mad Homology 1 (MH1) domain

pfam00859
Location:209 → 416

CTF_NFI; CTF/NF-I family transcription modulation region

pfam10524
Location:9 → 47

NfI_DNAbd_pre-N; Nuclear factor I protein pre-N-terminus
XM_005251469.2 → XP_005251526.1 nuclear factor 1 B-type isoform X4

See identical proteins and their annotated locations for XP_005251526.1

UniProtKB/TrEMBL

Q5VW30

Related

ENSP00000380705.3, OTTHUMP00000022768, ENST00000397575.7, OTTHUMT00000055471

Conserved Domains (3) summary

cl00055
Location:69 → 173

MH1; N-terminal Mad Homology 1 (MH1) domain

pfam00859
Location:209 → 489

CTF_NFI; CTF/NF-I family transcription modulation region

pfam10524
Location:9 → 47

NfI_DNAbd_pre-N; Nuclear factor I protein pre-N-terminus
XM_006716775.2 → XP_006716838.1 nuclear factor 1 B-type isoform X6

Conserved Domains (3) summary

cl00055
Location:69 → 173

MH1; N-terminal Mad Homology 1 (MH1) domain

pfam00859
Location:209 → 470

CTF_NFI; CTF/NF-I family transcription modulation region

pfam10524
Location:9 → 47

NfI_DNAbd_pre-N; Nuclear factor I protein pre-N-terminus
XM_006716774.2 → XP_006716837.1 nuclear factor 1 B-type isoform X5

Related

ENSP00000490588.1, OTTHUMP00000281662, ENST00000636432.1, OTTHUMT00000488970

Conserved Domains (3) summary

cl00055
Location:69 → 173

MH1; N-terminal Mad Homology 1 (MH1) domain

pfam00859
Location:209 → 502

CTF_NFI; CTF/NF-I family transcription modulation region

pfam10524
Location:9 → 47

NfI_DNAbd_pre-N; Nuclear factor I protein pre-N-terminus
XM_005251467.2 → XP_005251524.1 nuclear factor 1 B-type isoform X1

See identical proteins and their annotated locations for XP_005251524.1

UniProtKB/TrEMBL

Q5VW26

Related

ENSP00000380711.2, OTTHUMP00000022767, ENST00000397581.6, OTTHUMT00000055470

Conserved Domains (3) summary

cl00055
Location:69 → 173

MH1; N-terminal Mad Homology 1 (MH1) domain

pfam00859
Location:209 → 498

CTF_NFI; CTF/NF-I family transcription modulation region

pfam10524
Location:9 → 47

NfI_DNAbd_pre-N; Nuclear factor I protein pre-N-terminus
XM_017014742.1 → XP_016870231.1 nuclear factor 1 B-type isoform X12

UniProtKB/TrEMBL

A0A1B0GWB8

Related

ENSP00000490864.1, OTTHUMP00000281659, ENST00000636735.1, OTTHUMT00000488968
XM_005251471.3 → XP_005251528.1 nuclear factor 1 B-type isoform X11

Conserved Domains (1) summary

pfam00859
Location:1 → 246

CTF_NFI; CTF/NF-I family transcription modulation region