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FLASH GENE

Symbol

NFIA

contributors: mct/pgu - updated : 06-04-2013

HGNC name	nuclear factor I/A
HGNC id	7784

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001134673 11 - 9495 NP_001128145 55.8 509 - 2004 15466411 NM_001145511 11 - 9339 NP_001138983 54.9 501 - 2004 15466411 NM_001145512 12 - 9228 NP_001138984 60.7 554 - 2004 15466411 NM_005595 10 - 9403 NP_005586 54.5 498 - 2004 15466411

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine thyroid       highly Hearing/Equilibrium ear       highly Nervous brain hindbrain cerebellum       brain basal nuclei caudate nucleus     Respiratory respiratory tract larynx     highly   respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	expressed in the developing telencephalon

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

CTF/NF-i DNA-binding domain

mono polymer

dimer

HOMOLOGY

Homologene

FAMILY

CTF/NF-I family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in regulation of transcription, DNA-dependent
	recognizes and binds the palindromic sequence 5'- ttggcnnnnngccaa-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2
	neuronal subtype-enriched transcriptional regulators that participate in an intrinsic transcriptional program directing the differentiation of cerebellar granule neurons
	play roles in patterning, glial development, cortical cell migration and axon guidance
	transcription factor that specifies glial cell identity and promotes astrocyte differentiation during embryonic development
	may play a role in astrocytoma biology
	known to regulate spinal cord and neocortical development, has recently been implicated as acting downstream of NOTCH to initiate the expression of astrocyte-specific genes within the cortex
	ZBTB20 is a key determinant of astrocytogenesis, in which it collaborates with SOX9 and NFIA, and acts in part through direct repression of POU3F2 expression

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

text	cellular transcription factor, functioning as a replication factor for adenovirus DNA replication

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	binds DNA as a homodimer

RNA

small molecule

protein	LHX2 is able to suppress NFIA-induced astrogliogenesis robustly
	also downregulates the activity of the NOTCH signaling pathway via repression of the key NOTCH effector HES1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

disruption of murine Nfia is responsible of perinatal lethality, hydrocephalus and agenesis of the corpus callosum