Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

NRXN1

contributors: mct - updated : 06-04-2016

HGNC name	neurexin 1
HGNC id	8008

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IDEM intellectual disability, epilepsy, macrocephaly PTHS2 Pitt-Hopkins 2
Location	2p16.3      Physical location : 50.145.643 - 51.259.674
Synonym name	neurexin I-alpha
	neurexin I-beta
Synonym symbol(s)	RN1AH, KIAA0578, NX1A, FLJ35941, Hs.22998, DKFZp313P2036, PTHSL2, SCZD17

DNA

TYPE	functioning gene
STRUCTURE	1114.03 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure	CCG repeat in 5'utr
	two promoters: one promoter for the transcription of alpha neurexin and one for beta

MAPPING

cloned

Y

linked

N

status

tentative : very preliminary evidence

RNA

TRANSCRIPTS	type	messenger

text	with long and shorter both with alternatively spliced isoforms (PMID: 9448462) activity-dependent alternative splicing requires the KH-domain RNA-binding protein KHDRBS1 that associates with RNA response elements in the NRXN1 pre-mRNA (PMID: 21620750)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001135659 24 - 9578 NP_001129131 - 1547 heart, brain 1994 8163501 NM_004801 22 - 9368 NP_004792 - 1477 - 1994 8163501 lacks the N terminal five LNS domains and the EGF-like repeats, the C terminus region is conserved NM_138735 6 - 5593 NP_620072 - 442 - -

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 Cardiovascular heart         Homo sapiens Adult NM_001135659 Hearing/Equilibrium ear inner cochlea   highly Nervous brain       highly Homo sapiens Adult NM_001135659   nerve       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal signal peptide
	three overall repeats, each composed of two similar domains LNS (laminin A/neurexin/sex hormone-binding globulin) separated from each other by an EGF-like sequence
	an O-glycosylation site and a single TM segment
	a short cytoplasmic tail

HOMOLOGY

interspecies

homolog to rattus neurexin I alpha

intraspecies

homolog to NRXN3

Homologene

FAMILY

neurexin family

CATEGORY

adhesion , signaling , receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	neuronal cell surface protein that may be involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins
	plays an important role in synaptic development
	have a fundamental role in synaptogenesis and synaptic maintenance
	having an important role in synaptic function
	polymorphic presynaptic protein implicated in synaptic plasticity and memory processing

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

nervous system

text	axon guidance

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding the potent excitatory neurotoxin alpha-latrotoxin
	interacting with neuroligin
	SORCS1 localizes to early and recycling endosomes and regulates neurexin and AMPAR surface trafficking
	selective binding between NRXN1 and LRRTM1/LRRTM2 modulated by the S4 insertion of NRXN1
	SORCS1 is a critical regulator of trafficking of neuronal receptors, including the presynaptic adhesion molecule neurexin (NRXN1), an essential synaptic organizer

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PTHS2 , IDEM

Susceptibility

to autism spectrum disorder, see AUTS19 to schizophrenia to nicotine dependence (ND) to autism spectrum disorder, developmental delay, and speech delay

Variant & Polymorphism other	mutation increasing the risk of nicotine dependence,
	disrupted by rare CNVs in schizophrenia patients
	duplicated in patients with autism spectrum disorder, developmental delay, and speech delay

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS