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FLASH GENE

Symbol

CNBP

contributors: mct/npt - updated : 24-10-2018

HGNC name	CCHC-type zinc finger, nucleic acid binding protein
HGNC id	13164

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	a CCTG repeat in intron 1
STRUCTURE	16.15 kb     5 Exon(s)

regulatory sequence	Promoter
motif	repetitive sequence   ALU   triplet   other
text structure	CCTG expansion in intron 1
	single nucleotide polymorphism located in the first intron, a C to A nucleotide change, which creates or disrupts and ApaI enzyme restriction site

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_001127192 5 - 3399 NP_001120664 - 179 heart, skeletal muscle Flink, Ricker (1999) NM_001127193 5 splicing 3396 NP_001120665 18.7 178 heart, skeletal muscle Flink, Ricker (1999) lack the last 7 AA of the first zinc finger motif NM_001127194 5 - 3378 NP_001120666 - 172 - Ricker (1999) NM_001127195 5 - 3375 NP_001120667 - 171 - Ricker (1999) variant beta 1 NM_001127196 5 - 3372 NP_001120668 - 170 - Ricker (1999) NM_003418 5 - 3393 NP_003409 - 177 - Ricker (1999)

EXPRESSION

Type	ubiquitous

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 Digestive esophagus       highly   mouth tongue     highly   stomach       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

seven zinc finger repeats

conjugated

MetalloP

HOMOLOGY

Homologene

FAMILY	zinc finger protein family
	retroviral nucleic acid binding protein family

CATEGORY

chaperone/stress , RNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	involved in sterol- mediated repression
	with PCBP2, stimulate translation of the ornithine decarboxylase (ODC) internal ribosomal entry site (Gerbasi 2007)
	appeared to function as part of a larger holo-ITAF ribonucleoprotein complex (Gerbasi 2007)
	essential role in mediating neural crest expansion by controlling proliferation and cell survival rather than via a cell fate switch during rostral head development (Weiner 2007)
	plays an essential and conserved role during vertebrate head development (Weiner 2007)
	regulate cap-dependent and cap-independent translation (Huichalaf 2009)
	is a nucleic acid chaperone implicated in vertebrate craniofacial development, as well as in myotonic dystrophy type 2 (DM2) and sporadic inclusion body myositis (sIBM) human muscle diseases
	CNBP and LARP1, two of the most strongly enriched viral RNA binders, restrict SARS-CoV-2 replication in infected cells

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

part of an ITAF complex that promotes cap-independent translation (Gerbasi 2007)

INTERACTION

DNA

RNA	RNA-binding protein

small molecule

protein	binding MBNL1
	CNBP up-regulates TBX2 and SMARCA5, and down-regulates WNT5B gene expression

cell & other

cellular retroviral RNA binding

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DM2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS