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FLASH GENE

Symbol

HNRNPC

contributors: mct/shn - updated : 05-01-2011

HGNC name	heterogeneous nuclear ribonucleoprotein C (C1/C2)
HGNC id	5035

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	14q11.2      Physical location : 21.677.297 - 21.737.638
Synonym name	heterogeneous nuclear ribonucleoproteins C1/C2
	hnRNP C1/C2
	nuclear ribonucleoprotein particle C1 protein
	nuclear ribonucleoprotein particle C2 protein
Synonym symbol(s)	C1, C2, HNRP, SNRPC, HNRPC, MGC104306, MGC105117, MGC117353, MGC131677

DNA

TYPE	functioning gene
STRUCTURE	60.34 kb     9 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	en - D14S1023 - D14S1070 - HNRNPC - D14S1003 - D14S50 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_031314 (transcript variant 1) 9 splicing 3252 NP_112604 - 306 - - NM_004500 (transcript variant 2) 8 splicing 3213 NP_004491 - 293 - - NM_001077443 (transcript variant 4) 8 splicing 3187 NP_001070911 - 293 - - NM_001077442 (transcript variant 3) 8 splicing 3226 NP_001070910 - 306 - -

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 stomach       highly Endocrine neuroendocrine pituitary     highly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

cell cycle

cell cycle, interphase, checkpoint, G2M

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one RRM domain (RNA recognition motif)
	two consensus sequence-type RNA domains
	a glycine-rich auxiliary domain

secondary structure

beta alpha beta beta alpha beta; four-stranded antiparallel beta-sheet, two alpha helices and relatively unstructured N and C terminal regions

conjugated

RiboP , PhosphoP

HOMOLOGY

interspecies	ortholog to Hnrnpc, Mus musculus
	ortholog to HNRNPC, pan troglodytes
	ortholog to Hnrnpc, rattus norvegicus

Homologene

FAMILY	heterogeneous nuclear ribonucleoprotein family
	RALY subfamily

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	nucleus at interphase, cytoplasm at the G2/M phase

basic FUNCTION	influencing pre-mRNA processing and other aspects of mRNA metabolism and transport
	playing a role in ribonucleosome assembly by neutralizing basic proteins such as A and B core HNRNP
	can act as a tetramer and is involved in the assembly of 40S hnRNP particles
	playing a role with CSDE1 in internal initiation of translation during mitosis
	may be a key determinant of the temporal patterns of vitamin D-resistant rickets occupancy
	role in splicing regulation

CELLULAR PROCESS

nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the hnRNP core complex
	component of the ribonucleosome
	with MBD1, and SWI/SNF form a chromatin remodeling complex at the beta-globin locus control region

INTERACTION

DNA	3' end of the RNA representing the negative strand of the HCV genome

RNA	binding to pre-mRNA

small molecule

protein	Grb2 and Grb3-3
	protein-protein interaction of RALY with EIF4A3, FMR1, and HNRNPC

cell & other

REGULATION

Other

phosphorylated in response to physiologic levels of hydrogen peroxide in endothelial cells

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in hereditary vitamin D-resistant rickets resulting in hormone resistance

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS