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FLASH GENE

Symbol

ZNF335

contributors: mct/npt - updated : 24-06-2016

HGNC name	zinc finger protein 335
HGNC id	15807

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MCPH10 microcephaly 10, primary
Location	20q13.12      Physical location : 44.577.292 - 44.600.833
Synonym name	NRC interacting factor 1
	zinc-finger/leucine-zipper co-transducer NIF1
	Nuclear hormone receptor coregulator-interacting factor 1
Synonym symbol(s)	NIF1, FLJ22504, bA465L10.2, NIF2, NIF-1, ZFP335

DNA

TYPE	functioning gene
STRUCTURE	24.26 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022095 28 - 4462 NP_071378 145 1342 - 2008 18180299

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 parathyroid       highly Lymphoid/Immune spleen       highly   thymus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six C2H2 zinc fingers
	an LXXLL motif
	a C-terminal leucine zipper region;
	N-terminal 35-amino acid region enriched in acidic residues
	putative protein kinase A
	tyrosine kinase phosphorylation sites (Mahajan 2002)

conjugated

MetalloP

HOMOLOGY

Homologene

FAMILY

krueppel C2H2-type zinc-finger protein family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	regulator or coactivator of NRC function
	enhancing the activity of nuclear hormone receptors as well as other transcription factors such as c-Fos and c-Jun (Garapaty 2009)
	recruited to the receptor via association with NCOA6, which has been shown to bind directly to liganded RARA (Garapaty 2009)
	transcriptional regulator that enhances the transcriptional activity of nuclear hormone receptors
	directs neuronal morphogenesis during early developmental stages through modulating activity-dependent gene transcription

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

hormonal

a component	component of a complex with NCOA6
	methyltransferase core proteins, ASH2L, RBBP5, and WDR5, form a physically separate complex with ZNF335 (Garapaty 2009)

INTERACTION

DNA	binds DNA and drives transcription via recognition of two distinct consensus motifs by separate ZF clusters

RNA

small molecule	metal binding,
	Zn2+

protein	nuclear hormone receptor (NRC) transactivator
	interacting with NCOA6 (does not directly interact with nuclear hormone receptors, it enhances activation by nuclear hormone receptors presumably through its interaction with NCOA6) (Garapathy 2009)
	ZNF335 is a new interacting partner of CDK5R1
	CDK5R1 interacts with ZNF335 and regulates its nucleocytoplasmic trafficking via the nuclear export pathway
	binds to promoter regions via a consensus motif, and its target genes are enriched in categories related to protein metabolism, mitochondrial function, and transcriptional regulation and restoring the expression of one target, ANKLE2, partially rescues T cell maturation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MCPH10

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mouse mutant, bloto, with a hypomorphic mutation in Zfp335; Zfp335(bloto/bloto) mice exhibit a na
	ve T cell deficiency due to an intrinsic developmental defect that begins to manifest in the thymus and continues into the periphery