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FLASH GENE

Symbol

UTP4

contributors: mct - updated : 08-12-2010

HGNC name	UTP4 small subunit processome component
HGNC id	1983

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NAIC north america indian childhood cirrhosis
Location	16q22.1      Physical location : -
Synonym name	cirhin
	North American Indian childhood cirrhosis
	testis expressed gene 292
	cirrhosis, autosomal recessive 1A (cirhin)
Synonym symbol(s)	NAIC, CIRHIN, TEX292, FLJ14728, KIAA1988, FLJ17146, CIRH1A

DNA

TYPE	functioning gene
STRUCTURE	36.44 kb     17 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_032830 17 - 2268 NP_116219 - - - -

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 Cardiovascular vessel         Digestive liver           mouth tongue         stomach         Lymphoid/Immune thymus         Nervous brain         Reproductive female system uterus cervix   highly Respiratory respiratory tract larynx       Urinary kidney

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	eye, liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal mitochondrial targeting peptide
	ten WD repeats
	C-terminal monopartite nuclear localization signal (NLS), potentially required for ribosome biogenesis

HOMOLOGY

interspecies

ortholog to murine Cirh1a

Homologene

FAMILY

CATEGORY

regulatory , signaling , receptor membrane G

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleolus

basic FUNCTION	WD repeat protein may be involved in signal transduction
	transcriptional regulatory factor of NF-kappaB sequence and could be a participant in the regulation of other genes with NF-kappaB responsive elements (up-regulates a canonical NF-kappaB element through strong interaction with HIVEP1)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with HIVEP1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NAIC

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS