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FLASH GENE

Symbol

PRPF31

contributors: mct/shn/pgu - updated : 02-11-2016

HGNC name	PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)
HGNC id	15446

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RP11 retinitis pigmentosa 11
Location	19q13.42      Physical location : 54.618.789 - 54.635.150
Synonym name	PRP31 pre-mRNA processing factor 31 homolog (yeast)
	U4/U6 snRNP-associated 61kDa protein
Synonym symbol(s)	DKFZp566J153, RP11, PRP31, NY-BR-99, SNRNP61

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
text	head-to-head arrangement with TFPT
STRUCTURE	13.36 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	core promoters of PRPF31 and TFPT were conserved between human and monkey

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D19S924 - D19S927 - PRPF31 - D19S926 - D19S418 - qter

regionally located

located between D19S927 and D19S781.2

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015629 14 - 2201 NP_056444 61 499 - 2009 19373678

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 intestine large intestine colon   highly   salivary gland       predominantly Reproductive female system ovary     predominantly Respiratory lung       moderately Urinary kidney       moderately Visual eye retina     highly Homo sapiens

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a putative snoRNA binding domain
	a region homologous to Nop
	putative nuclear localization signals

HOMOLOGY

interspecies	ortholog to Prpf31, Rattus norvegicus
	ortholog to Prpf31, Mus musculus
	ortholog to prpf31, Danio rerio
	ortholog to PRPF31, Pan troglodytes

Homologene

FAMILY

PRP31 family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	perinuclear region of the photoreceptor

basic FUNCTION

mediating protein-RNA interactions required for spliceosome assembly

CELLULAR PROCESS

nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

splicing

a component	part of the U4/U6-U5 tri-snRNP complex
	with PRPF3 and PRPF8, are component of the spliceosome, a macromolecular complex that processes nearly all pre-mRNAs

INTERACTION

DNA

RNA

binding

small molecule

protein	link between PRPF31 and RHO
	PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae), PRPF6
	Fanconi anemia, complementation group A, FANCA
	NHP2 non-histone chromosome protein 2-like 1, NHP2L1 and U4 snRNA
	specifically associates with spliceosomal small nuclear ribonucleoprotein particles (snRNPs)
	CTNNBL1 also interacts with PRPF31 (CTNNBL1 interactor, with recognition also occurring through its NLS)
	CNOT3 is the main modifier gene determining penetrance of PRPF31 mutations, via a mechanism of transcriptional repression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RP11

Susceptibility

suggested to be a modifier of penetrance in a dominant form of retinitis pigmentosa

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS