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FLASH GENE

Symbol

HEPH

contributors: - updated : 27-08-2007

HGNC name	hephaestin
HGNC id	4866

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xq11-q12      Physical location : 65.382.432 - 65.487.228
Genatlas name	putative multicopper ferroxidase
Synonym name	cDNA sequence,expressed in brain, 79kDa, related to ceruloplasmin precursor
Synonym symbol(s)	KIAA0698, RP13-238N7.1, CPL

DNA

TYPE	functioning gene
STRUCTURE	104.00 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - DXZ1 - DXS7485 - DXS7507 - DXS1312 - DXS900 - DXS136 - DXS8026 - MSN - DXS1213 - HEPH - DXS1194 - DXS1159 - DXS1 - DXS1161 - DXS1412 - AR - DXS1430 - OPHN1 - DXS2493 - DXS7459 - DXS159 - DXS1111 - EFNB1 - DXS981 - DXS1125 - qter
Authors	Schueler (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 4279 - 1158 - Griffiths variant 2 - - 4231 - 891 - Griffiths

EXPRESSION

Type

widely

constitutive of

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           intestine large intestine colon   highly Hearing/Equilibrium ear inner cochlea   highly Nervous brain

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

putative C terminal transmembrane domain with a ceruloplamin-like domain

HOMOLOGY

interspecies	homolog to murine Heph
	homolog to sla mutant

intraspecies

homolog to ceruloplasmin precursor

Homologene

FAMILY

cerruloplasmin family

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	membrane-bound protein responsible for transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system
	implicated in duodenal iron export
	able to catalyze formation of diferric transferrin from Fe(II) and apotransferrin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

PATHWAY

metabolism

signaling

transport of iron from mucosal cell to the circulation

a component

INTERACTION

DNA

RNA

small molecule

protein

co-operate with divalent-metal-transporter-1 (SLC11A2) and SLC40A1, respectively, to transfer iron from the duodenal lumen to the circulation

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS