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FLASH GENE

Symbol

ANKH

contributors: mct/pgu - updated : 30-08-2010

HGNC name	ankylosis, progressive homolog (mouse)
HGNC id	15492

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CCAL2 chondrocalcinosis 2 CMDJ craniometaphyseal dysplasia MRDA mental retardation, ankylosis, deafness
Location	5p15.2      Physical location : 14.704.909 - 14.871.887
Synonym name	craniometaphyseal dysplasia, Jackson type (dominant)
	ankylosis, progressive (mouse) homolog
Synonym symbol(s)	HANK, MANK, ANK, KIAA1581, CPPDD, FLJ27166

DNA

TYPE	functioning gene
STRUCTURE	166.98 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_054027 12 splicing 8224 NP_473368 54.2 492 - 1995 8528213 NM_019847 - splicing 2529 NP_062821 54.2 492 - 1995 8528213

EXPRESSION

Type

widely

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 small intestine ileum     Endocrine pancreas       highly Nervous brain       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Skeleton osteoblast Urinary epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	N-terminal region interacted with SPHK1
	three potential N linked glycosylation sites
	multiple putative phosphorylation sites
	8 predicted transmembrane helices
	a possible cilial localisation motif immediately after the last transmembrane segment
	cytoplasmic C-terminal loop interacted with MYBBP1A

HOMOLOGY

interspecies

homolog to murine Ank

Homologene

FAMILY

ANKH family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	cilial and basal body localisation in renal tissues and renal epithelial cells

basic FUNCTION	involved in bone formation and remodeling
	stimulating saturable transport of pyrophosphate ions across the plasma membrane, with half maximal rates attained at physiological levels of pyrophosphate
	multipass transmembrane protein that is expressed in joints and other tissues
	regulating intra- and extracellular levels of inorganic pyrophosphate (PPI), probably functioning as PPI transporter
	plays a central role in bone mineralization, and contributes to the genetic regulation of osteoprotegerin levels
	pyrophosphate transporter, which regulates tissue calcification
	regulates inorganic pyrophosphate (PPi) transport
	may regulate tissue mineralization by transporting pyrophosphate to the extracellular space

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	associates with the sodium/phosphate cotransporter POU1F1
	ANKH /MYBBP1A and SPHK1 interactions stimulate catabolic events in IL1B-mediated cartilage degradation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMDJ , CCAL2 , MRDA

Susceptibility

to ankylosing spondylitis

Variant & Polymorphism SNP	polymorphisms increasing the risk of ankylosing spondylitis

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS