NFIB - nuclear factor I B Gene

Also Known as CTF; MACID; NF1-B; NFI-B; NFIB2; NFIB3; NF-I/B; NFI-RED; HMGIC/NFIB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4781

About NFIB

Cytogenetic location: 9p23-p22.3 Genomic coordinates (GRCh38): 9:14,081,843-14,532,077 (from NCBI)

This gene has 22 transcripts (splice variants), 213 orthologues, 3 paralogues and is associated with 78 phenotypes. Ubiquitous expression in fat (RPKM 8.5), brain (RPKM 6.3) and 24 other tissues.

Summary

Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and transcription regulator inhibitor activity. Involved in brain development; negative regulation of DNA binding activity; and regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

NFIB Products (28)

mRNA	Protein	Name
NM_001190737.2	NP_001177666.1	nuclear factor 1 B-type isoform 1
NM_001190738.2	NP_001177667.1	nuclear factor 1 B-type isoform 2
NM_001282787.2	NP_001269716.1	nuclear factor 1 B-type isoform 4
NM_001369458.1	NP_001356387.1	nuclear factor 1 B-type isoform 5
NM_001369459.1	NP_001356388.1	nuclear factor 1 B-type isoform 6
NM_001369460.1	NP_001356389.1	nuclear factor 1 B-type isoform 7
NM_001369461.1	NP_001356390.1	nuclear factor 1 B-type isoform 8
NM_001369462.1	NP_001356391.1	nuclear factor 1 B-type isoform 9
NM_001369463.1	NP_001356392.1	nuclear factor 1 B-type isoform 10
NM_001369464.1	NP_001356393.1	nuclear factor 1 B-type isoform 11
NM_001369465.1	NP_001356394.1	nuclear factor 1 B-type isoform 12
NM_001369466.1	NP_001356395.1	nuclear factor 1 B-type isoform 13
NM_001369467.1	NP_001356396.1	nuclear factor 1 B-type isoform 14
NM_001369468.1	NP_001356397.1	nuclear factor 1 B-type isoform 15
NM_001369469.1	NP_001356398.1	nuclear factor 1 B-type isoform 16
NM_001369470.1	NP_001356399.1	nuclear factor 1 B-type isoform 17
NM_001369471.1	NP_001356400.1	nuclear factor 1 B-type isoform 18
NM_001369472.1	NP_001356401.1	nuclear factor 1 B-type isoform 19
NM_001369473.1	NP_001356402.1	nuclear factor 1 B-type isoform 20
NM_001369474.1	NP_001356403.1	nuclear factor 1 B-type isoform 21
NM_001369475.1	NP_001356404.1	nuclear factor 1 B-type isoform 22
NM_001369476.1	NP_001356405.1	nuclear factor 1 B-type isoform 23
NM_001369477.1	NP_001356406.1	nuclear factor 1 B-type isoform 24
NM_001369478.1	NP_001356407.1	nuclear factor 1 B-type isoform 25
NM_001369479.1	NP_001356408.1	nuclear factor 1 B-type isoform 26
NM_001369480.1	NP_001356409.1	nuclear factor 1 B-type isoform 27
NM_001369481.1	NP_001356410.1	nuclear factor 1 B-type isoform 28
NM_005596.3	NP_005587.2	nuclear factor 1 B-type isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
NOT enables DNA binding	IDA IDA: Inferred from direct assay	9099724	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	9099724	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	19540848	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9099724	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	19540848	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25258084	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription regulator inhibitor activity	IDA IDA: Inferred from direct assay	9099724	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in brain development	IMP IMP: Inferred from mutant phenotype	30388402	GOA
involved in negative regulation of DNA binding	IDA IDA: Inferred from direct assay	9099724	GOA
involved in negative regulation of miRNA transcription	IMP IMP: Inferred from mutant phenotype	18384814	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9099724	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	30388402	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9099724	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in nucleus	IDA IDA: Inferred from direct assay	9099724	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

NFIB Protein Structure

NfI_DNAbd_pre-N

MH1

CTF_NFI

0
100
200
300
400
420 a.a.

Protein Preferred Names	Protein Names
nuclear factor 1 B-type	CCAAT-box-binding transcription factor

NFIB Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	NFIB	O00712	NFIC	Homo sapiens	P08651	Anti Tag CoIP	33961781
Intra	NFIB	O00712	NFIC	Homo sapiens	P08651	Affinity Chrom	35140242
Intra	NFIB	O00712	NFIC	Homo sapiens	P08651	BioID	35140242

Cross: Cross-species interaction Intra: Intraspecies interaction

NFIB Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P81647	NFIB Antibody (YA1392)	WB, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat
HY-P81647A	NFIB Antibody (YA1392)(PBS only)	WB, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Macrocephaly, Acquired, With Impaired Intellectual Development	MACID Macrocephaly, Acquired, With Mental Retardation
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Breast Adenoid Cystic Carcinoma	Adenoid Cystic Breast Carcinoma Adenoid Cystic Carcinoma Of Breast Mammary Adenocystic Carcinoma
Lung Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma Of Lung Pulmonary Adenoid Cystic Carcinoma
Sublingual Gland Adenoid Cystic Carcinoma
Sublingual Gland Cancer	Malignant Tumor Of Sublingual Gland Malignant Tumor Of The Sublingual Gland
Synchronous Bilateral Breast Carcinoma
Tonsil Cancer	Tonsillar Neoplasms Malignant Neoplasm Of Faucial Tonsil Malignant Neoplasm Of Palatine Tonsil Malignant Neoplasm Of Tonsil, Faucial Malignant Tonsillar Tumor Malignant Tumor Of Tonsil Tonsillar Carcinoma Malignant Neoplasm Tonsil
Oropharynx Cancer	Oropharyngeal Cancer Oropharyngeal Carcinoma Malignant Neoplasm Of Oropharynx Malignant Oropharyngeal Tumor Malignant Tumor Of Oropharynx Malignant Tumour Of Mesopharynx Oropharyngeal Cancer, Adult Cancer Of The Oropharynx
Salivary Gland Carcinoma	Salivary Gland Cancer Malignant Neoplasm Of Salivary Gland Salivary Gland Neoplasms
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
Salivary Gland Adenoid Cystic Carcinoma	Cylindroma
Infiltrating Lipoma	Intramuscular Lipoma
Epithelial-Myoepithelial Carcinoma	Clear Cell Adenoma Adenomyo-Epithelioma Clear Cell Carcinoma Emc Epithelial Myoepithelial Carcinoma Glycogen-Rich Adenocarcinoma Glycogen-Rich Adenoma Monomorphic Clear Cell Tumor Tubular Solid Adenoma Adenocarcinoma, Clear Cell
Lacrimal Gland Carcinoma	Lacrimal Gland Cancer Carcinoma Of The Lacrimal Gland Malignant Neoplasm Of Lacrimal Gland Malignant Tumour Of Lacrimal Gland Neoplasm Of Lacrimal Gland Tumor Of The Lacrimal Gland Malignant Tumor Of Lacrimal Gland
Bartholin'S Gland Adenoid Cystic Carcinoma	Bartholin Gland Adenoid Cystic Carcinoma
Cervical Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma Of The Cervix Uteri
Spiradenoma	Eccrine Spiradenoma Benign Eccrine Spiradenoma Eccrine Spiradenoma Of Skin Es Eccrine Spiradenoma, Benign
Pleomorphic Adenoma Carcinoma	Carcinoma Ex Pleomorphic Adenoma Carcinoma In Pleomorphic Adenoma
Marshall-Smith Syndrome	MRSHSS Accelerated Skeletal Maturation-Facial Dysmorphism-Failure To Thrive Syndrome Mss
Lipoma Of Colon	Colonic Lipoma Colon Lipoma
Large Intestine Lipoma	Lipoma Of Large Intestine Colorectal Lipoma
Mammary Analogue Secretory Carcinoma
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Microglandular Adenosis	Breast Fibrocystic Disease Adenosis - Breast Adenosis Of The Breast Fibrocystic Breast Disease Breast Adenosis Adenosis Of Breast
Salivary Gland Disease	Salivary Gland Disorders Salivary Gland Diseases Non-Neoplastic Salivary Gland Disease Non-Neoplastic Salivary Gland Disorder Disorder Of Salivary Gland Lesion Of Salivary Gland Nos
Breast Secretory Carcinoma	Secretory Breast Carcinoma Juvenile Breast Carcinoma Juvenile Carcinoma Of The Breast Juvenile Secretory Carcinoma Of Breast Juvenile Breast Cancer Sbc Secretory Carcinoma Of The Breast
Brooke-Spiegler Syndrome	Cyld Cutaneous Syndrome Spiegler-Brooke Syndrome Familial Cylindromatosis BRSS Bss Sbs Multiple Familial Trichoepithelioma Ancell-Spiegler Cylindromas Familial Multiple Trichoepithelioma Trichoepithelioma Fc Mft Multiple Familial Trichoepitheliomas Ccs Turban Tumor Syndrome Schilbach-Rott Syndrome Eccrine Dermal Cylindroma Familial Multiple Trichoepitheliomata
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Cribriform Carcinoma	Ductal Carcinoma, Cribriform Type Carcinoma Cribriform Carcinoma, Cribriform
Lacrimal Gland Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma Of Lacrimal Gland
Lacrimal Gland Adenocarcinoma	Adenocarcinoma Of Lacrimal Gland
Lacrimal System Cancer	Neoplasm Of Lacrimal System Lacrimal System Neoplasm Tumor Of The Lacrimal System
Myoepithelial Carcinoma	Malignant Myoepithelioma Myoepithelioma Carcinoma
Acinar Cell Carcinoma	Acinic Cell Carcinoma Acinic Cell Tumor Carcinoma Acinar Cell Carcinoma, Acinar Cell Acinar Cell Tumor
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Apocrine Sweat Gland Neoplasm	Apocrine Tumor Apocrine Neoplasm
Anus Basaloid Carcinoma	Basaloid Carcinoma Of The Anus Anal Basaloid Carcinoma
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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 (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS09250	NFIB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NFIB	MGD	MGI:103188
Felis catus	NFIB	VGNC	VGNC:82494
Macaca mulatta	NFIB	VGNC	VGNC:75335
Rattus norvegicus	NFIB	RGD	RGD:62015
Bos taurus	NFIB	VGNC	VGNC:32039
Canis familiaris	NFIB	VGNC	VGNC:43776
Others	NFIB	NCBI