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FLASH GENE

Symbol

CELF4

contributors: mct - updated : 13-07-2018

HGNC name	CUGBP, Elav-like family member 4
HGNC id	14015

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	18q12.2      Physical location : 34.823.007 - 35.146.000
Synonym name	CUG-BP and ETR-3 like factor 4
	LYST-interacting protein LIP9
	RNA-binding protein BRUNOL4
	bruno-like 4, RNA binding protein (Drosophila)
Synonym symbol(s)	BRUNOL-4, BRUNOL4, CELF-4

DNA

TYPE	functioning gene
STRUCTURE	323.00 kb     13 Exon(s)

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_020180 13 - 4070 NP_064565 51.9 486 - 2007 17672918 NM_001025087 13 - 4067 NP_001020258 51.7 485 - 2007 17672918 NM_001025088 13 - 4064 NP_001020259 51.62 484 - 2007 17672918 NM_001025089 12 - 3956 NP_001020260 47.6 448 - 2007 17672918 NM_001330603 13 - 4064 NP_001317532 - 484 - 2007 17672918 NM_001353695 13 - 4023 NP_001340624 - 474 - 2007 17672918 NM_001353696 12 - 3972 NP_001340625 - 457 - 2007 17672918 NM_001353697 12 - 3942 NP_001340626 - 447 - 2007 17672918 NM_001353702 14 - 4050 NP_001340631 - 483 - 2007 17672918 NM_001353698 13 - 4056 NP_001340627 - 485 - 2007 17672918 NM_001353699 12 - 3939 NP_001340628 - 446 - 2007 17672918 NM_001353700 12 - 3942 NP_001340629 - 447 - 2007 17672918 NM_001353701 2 - 2367 NP_001340630 - 292 - 2007 17672918 NM_001353703 14 - 4108 NP_001340632 - 526 - 2007 17672918 NM_001353705 13 - 4080 NP_001340634 - 493 - 2007 17672918 NM_001353706 12 - 3939 NP_001340635 - 446 - 2007 17672918 NM_001353707 13 - 4086 NP_001340636 - 495 - 2007 17672918 NM_001353708 12 - 3975 NP_001340637 - 458 - 2007 17672918 NM_001353709 13 - 4026 NP_001340638 - 475 - 2007 17672918 NM_001353710 13 - 4023 NP_001340639 - 474 - 2007 17672918 NM_001353711 13 - 4020 NP_001340640 - 473 - 2007 17672918 NM_001353712 13 - 4047 NP_001340641 - 482 - 2007 17672918 NM_001353713 12 - 3942 NP_001340642 - 447 - 2007 17672918 NM_001353714 13 - 4020 NP_001340643 - 473 - 2007 17672918 NM_001353715 13 - 4024 NP_001340644 - 498 - 2007 17672918 NM_001353716 12 - 3966 NP_001340645 - 455 - 2007 17672918 NM_001353717 13 - 4089 NP_001340646 - 496 - 2007 17672918 NM_001353718 14 - 4050 NP_001340647 - 483 - 2007 17672918 NM_001353719 12 - 3942 NP_001340648 - 447 - 2007 17672918 NM_001353720 12 - 3939 NP_001340649 - 446 - 2007 17672918 NM_001353721 13 - 4023 NP_001340650 - 474 - 2007 17672918 NM_001353722 12 - 3936 NP_001340651 - 445 - 2007 17672918 NM_001353723 12 - 3972 NP_001340652 - 457 - 2007 17672918 NM_001353724 13 - 4053 NP_001340653 - 484 - 2007 17672918 NM_001353725 13 - 4020 NP_001340654 - 473 - 2007 17672918 NM_001353726 14 - 4105 NP_001340655 - 525 - 2007 17672918 NM_001353727 12 - 3939 NP_001340656 - 446 - 2007 17672918 NM_001353728 14 - 4102 NP_001340657 - 524 - 2007 17672918 NM_001353729 12 - 3969 NP_001340658 - 456 - 2007 17672918 NM_001353730 12 - 3969 NP_001340659 - 456 - 2007 17672918 NM_001353731 14 - 4135 NP_001340660 - 535 - 2007 17672918 NM_001353732 12 - 3939 NP_001340661 - 446 - 2007 17672918 NM_001353733 15 - 4181 NP_001340662 - 531 - 2007 17672918 NM_001353734 14 - 4138 NP_001340663 - 536 - 2007 17672918 NM_001353735 15 - 4190 NP_001340664 - 534 - 2007 17672918 NM_001353736 12 - 3969 NP_001340665 - 456 - 2007 17672918 NM_001353737 12 - 3966 NP_001340666 - 455 - 2007 17672918 NM_001353738 13 - 4053 NP_001340667 - 484 - 2007 17672918 NM_001353739 14 - 4099 NP_001340668 - 523 - 2007 17672918 NM_001353740 15 - 4223 NP_001340669 - 545 - 2007 17672918 NM_001353741 14 - 4105 NP_001340670 - 525 - 2007 17672918 NM_001353742 13 - 4113 NP_001340671 - 504 - 2007 17672918 NM_001353743 12 - 3972 NP_001340672 - 457 - 2007 17672918 NM_001353744 13 - 4056 NP_001340673 - 485 - 2007 17672918 NM_001353745 13 - 4053 NP_001340674 - 484 - 2007 17672918 NM_001353746 14 - 4135 NP_001340675 - 535 - 2007 17672918 NM_001353747 12 - 3969 NP_001340676 - 456 - 2007 17672918 NM_001353748 13 - 4026 NP_001340677 - 475 - 2007 17672918 NM_001353749 15 - 4220 NP_001340678 - 544 - 2007 17672918 NM_001353750 13 - 4023 NP_001340679 - 474 - 2007 17672918 NM_001353751 13 - 4056 NP_001340680 - 485 - 2007 17672918 NM_001353752 13 - 4026 NP_001340681 - 475 - 2007 17672918 NM_001353753 13 - 4023 NP_001340682 - 474 - 2007 17672918 NM_001353754 12 - 3969 NP_001340683 - 456 - 2007 17672918 NM_001353755 13 - 4023 NP_001340684 - 474 - 2007 17672918 NM_001353756 12 - 3506 NP_001340685 - 362 - 2007 17672918 NM_001353757 13 - 3479 NP_001340686 - 353 - 2007 17672918 NM_001353758 12 - 3392 NP_001340687 - 324 - 2007 17672918 NM_001353759 13 - 3476 NP_001340688 - 352 - 2007 17672918 NM_001353760 13 - 3476 NP_001340689 - 352 - 2007 17672918 NM_001353761 13 - 3503 NP_001340690 - 361 - 2007 17672918

EXPRESSION

Type

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 blood / hematopoietic spleen       moderately Digestive liver       highly Endocrine neuroendocrine pituitary     highly Nervous brain forebrain cerebral cortex   highly Homo sapiens   brain limbic system hippocampus   highly Homo sapiens Urinary kidney       moderately Visual eye retina     highly Mus musculus Fetal

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Nervous pyramidal cell Homo sapiens Visual ganglion cell Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N terminal consecutive RNA recognition motifs (RRM)
	protein kinase C phosphorylation sites
	protein kinase II phosphorylation sites
	nuclear localization signal
	a 20-residue region required for repression or activation

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to Drosophila CG10046
	homolog to murine Brunol4
	homolog to C.elegans C17D12.2

intraspecies	paralog to CUGBP1
	paralog to BRUNOL5

Homologene

FAMILY	Bruno-like RNA binding protein
	CELF/BRUNOL family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	involved in the regulation of alternative splicing by nucleic acid binding activity
	implicated in two major post-transcriptional regulatory processes, namely the alternative splicing and the control of translation and stability of target mRNAs
	CELF4 plays a specific role in regulating excitatory neurotransmission
	is critical for maintaining mRNA stability and availability for translation
	RNA-binding protein that links to RNA subsets involved in pre- and postsynaptic neurotransmission including almost 30p100 of potential autism-related genes
	potential role for CELF4 in brain development and autism spectrum disorders

CELLULAR PROCESS

nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

binding

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     with haploinsufficiency of CELF4 in syndromic intellectual disability and autism

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice deficient for neuronal RNA-binding protein Celf4 have a complex neurological disorder with epilepsy as a prominent feature
	altered excitatory neurotransmission resulting from Celf4 deficiency underlies the complex seizure disorder in Celf4 mutant mice