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FLASH GENE

Symbol

PHYHIP

contributors: mct - updated : 13-10-2020

HGNC name	phytanoyl-CoA hydroxylase interacting protein
HGNC id	16865

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8p21.3      Physical location : 22.077.216 - 22.089.851
Synonym name	DYRK1A interacting protein 3
	PAHX-AP1
	phytanoyl-CoA alpha-hydroxylase associated protein
Synonym symbol(s)	PAHX-AP, KIAA0273, DYRK1AP3, PAHXAP1

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	PIWIL2 alternative promoter in exon 7 also functions as an enhancer for gene PHYHIP located 60Kb upstream
STRUCTURE	12.40 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

linked

status

RNA

TRANSCRIPTS	type

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001363312 6 - 1891 NP_001350241 - 330 - 2005 15694837 NM_014759 5 - 2976 NP_055574 - 330 - 2005 15694837 NM_001363311 7 - 2013 NP_001350240 - 330 - 2005 15694837 NM_001099335 6 - 3098 NP_001092805 - 330 - 2005 15694837

EXPRESSION

Type

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 Nervous brain       highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION

play likely a role in the development of neurological abnormalities observed in Down syndrome patients

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

PIWIL2 alternative promoter in exon 7 is able to function as an enhancer only for PHYHIP promoter

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS