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FLASH GENE

Symbol

DAZ1

contributors: mct/npt - updated : 01-09-2008

HGNC name	deleted in azoospermia 1
HGNC id	2682

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Yq11.223      Physical location : 25.275.501 - 25.345.239
Synonym name	DNA segment, single copy, probe p49(a/f)
Synonym symbol(s)	SPGY, DAZ, FLJ17175

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head, opposite orientation
text	DAZ1 and DAZ2 head to head
STRUCTURE	69.74 kb     28 Exon(s)

text structure

eleven exons with a triplication of exons 2-6 and nine copies of exon 7 and several pseudoexons

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004081 28 - 4419 NP_004072 - 744 - Huang (2008)

EXPRESSION

Type	restricted

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 Reproductive male system testis     specific

cell lineage	restricted to premeiotic germ cells and predominantly in spematogonia
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three RRM (RNA recognition motif)
	RNA binding protein
	nine 24 AA repeats of distinct forms (DAZ repeat)

HOMOLOGY

Homologene

FAMILY

RRM DAZ family

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	predominantly cytoplasmic, but also nuclear at some stages of spermatozoide development

basic FUNCTION	germ-cell specific RNA-binding protein, involved in generation and maitenance of spermatogonial stem cell population
	PABP-binding protein that regulate translation in germ cells (Collier 2005)
	promote later stages of meiosis and development of haploid gametes (Kee 2009)
	required to achieve the highest level of synaptonemal complex formation (Kee 2009)

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

reproduction/sex

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA	binding tot he 3'UTR and regulating their translation

small molecule

protein	binding DAZAP1, DAZAP2 and/or PUM2
	heterodimerizing with BOLL and DAZL
	cannot bind simultaneously to DAZAP1 and PABP, and the phosphorylation-induced dissociation of DAZ and DAZAP1 may allow the former to stimulate translation by interacting with PABP

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in azoospermia with variable testicular defects

Susceptibility

to male infertility

Variant & Polymorphism other	Gr/Gr associated with male infertility

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS