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FLASH GENE

Symbol

KAL1

contributors: mct - updated : 01-07-2006

HGNC name	Kallmann syndrome 1 sequence
HGNC id	6211

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DELXPM chromosome Xp terminal deletion in males KAL1 Kallmann syndrome 1
Location	Xp22.32      Physical location : 8.496.915 - 8.700.227
Synonym name	cell adhesion protein X linked,anosmin 1
Synonym symbol(s)	ADMLX, KALIG1, KALM, KMS, HHA

DNA

TYPE	functioning gene
SPECIAL FEATURE	escaping inactivation
STRUCTURE	203.00 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

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 salivary gland       highly Endocrine parathyroid       highly Olfactory olfactory bulb         Reproductive male system prostate         male system testis     highly Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous mitral cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	placenta, bulb, neuroretina and kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal cysteine-rich motif
	a four disulfide core domain similar to structures described in serine protease inhibitors and neurophysin
	four fibronectin type III repeats typical of extracellular matrix molecule and potentially involved in processes of neuronal migration and axonal guidance
	one WAP type domain

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

CATEGORY

adhesion , signaling

SUBCELLULAR LOCALIZATION	extracellular
text	basement membrane and interstitial matrix

basic FUNCTION	involved in olfactory axon targeting promoting axonal
	branch formation from olfactory bulb output neurons
	playing a direct action on the migratory activity of the GnRH neurons
	co-ligand modulator of FGFR signaling that amplifies and specifies FGFR1 signaling responses during nervous system development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

nervous system

text	axon guidance

PATHWAY

metabolism

signaling

sensory transduction/olfaction

a component

INTERACTION

DNA

RNA

small molecule

protein	heparin binding protein
	interaction between anosmin-1 and the FGFR1-FGF2-heparan sulfate complex, leading to amplified responses in the FGFR1 signaling pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

KAL1 , DELXPM

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS