NRXN1 neurexin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NRXN1provided by HGNC
Official Full Name: neurexin 1provided by HGNC
Primary source: HGNC:HGNC:8008
See related: Ensembl:ENSG00000179915 MIM:600565; AllianceGenome:HGNC:8008
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PTHSL2; SCZD17; Hs.22998
Summary: This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016]
Expression: Biased expression in brain (RPKM 12.7) and testis (RPKM 0.6) See more
Orthologs: mouse all
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Genomic context

Location:: 2p16.3

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (49918503..51032132, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (49914520..51028290, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (50145641..51259270, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids.
Title: Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids.
Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure.
Title: Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure.
Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder.
Title: Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder.
Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings.
Title: Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings.
The influence of NRXN1 on systemizing and the brain structure in healthy adults.
Title: The influence of NRXN1 on systemizing and the brain structure in healthy adults.
Neurexin 1 variants as risk factors for suicide death.
Title: Neurexin 1 variants as risk factors for suicide death.
RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma.
Title: RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma.
NRXN1alpha(+/-) is associated with increased excitability in ASD iPSC-derived neurons.
Title: NRXN1α(+/-) is associated with increased excitability in ASD iPSC-derived neurons.
Copy number variants in neurexin genes: phenotypes and mechanisms.
Title: Copy number variants in neurexin genes: phenotypes and mechanisms.
Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons.
Title: Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons.

Submit: New GeneRIF Correction See all GeneRIFs (98)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Chromosome 2p16.3 deletion syndrome MedGen: C3808494 OMIM: 614332 GeneReviews: Not available	not available
Pitt-Hopkins-like syndrome 2 MedGen: C3280479 OMIM: 614325 GeneReviews: Not available	not available

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-06-08) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-06-08) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
A genome-wide association study of behavioral disinhibition. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed
Joint influence of small-effect genetic variants on human longevity. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of neurexin 1 (NRXN1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A005B20 (e-PCR)
- UniSTS:36096

1528 (e-PCR)
- UniSTS:5387

D2S1248 (e-PCR)
- UniSTS:49931

RH119036 (e-PCR)
- UniSTS:138265

RH119146 (e-PCR)
- UniSTS:139038

RH16667 (e-PCR)
- UniSTS:45351

STS-M78661 (e-PCR)
- UniSTS:37930

RH123570 (e-PCR)
- UniSTS:135990

A006Y06 (e-PCR)
- UniSTS:16694

D2S2156 (e-PCR), detects polymorphism
- UniSTS:54584

SHGC-86287 (e-PCR)
- UniSTS:104507

SHGC-154033 (e-PCR)
- UniSTS:183374

SHGC-155339 (e-PCR)
- UniSTS:183413

RH93424 (e-PCR)
- UniSTS:88192

D2S1352 (e-PCR)
- UniSTS:60556

SHGC-9451 (e-PCR)
- UniSTS:75917

D2S2316 (e-PCR)
- UniSTS:61852

SHGC-172604 (e-PCR)
- UniSTS:183454

NRXN1 (e-PCR)
- UniSTS:480169

RH98360 (e-PCR)
- UniSTS:87721

WI-10722 (e-PCR)
- UniSTS:10421

WI-15508 (e-PCR)
- UniSTS:45237

WI-16372 (e-PCR)
- UniSTS:60853

RH11979 (e-PCR)
- UniSTS:61365

NoName (e-PCR)
- UniSTS:483770

D2S2811 (e-PCR)
- UniSTS:30676

SHGC-108032 (e-PCR)
- UniSTS:183269

RH121128 (e-PCR)
- UniSTS:134123

G35313 (e-PCR)
- UniSTS:41462

D2S185E (e-PCR)
- UniSTS:147447

G20243 (e-PCR)
- UniSTS:36095

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium channel regulator activity	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables calcium-dependent protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables cell adhesion molecule binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables neuroligin family protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables neuroligin family protein binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed
enables signaling receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables transmembrane signaling receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables type 1 fibroblast growth factor receptor binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of AMPA selective glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in NMDA glutamate receptor clustering	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of NMDA selective glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in adult behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in axon guidance	TAS Traceable Author Statement more info	PubMed
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebellar granule cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in chemical synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of protein localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in gamma-aminobutyric acid receptor clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in gephyrin clustering involved in postsynaptic density assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in guanylate kinase-associated protein clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in learning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in neuroligin clustering involved in postsynaptic membrane assembly	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of neuromuscular process controlling balance	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in neuron cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in neuron cell-cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in neuron projection development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron projection morphogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in neuronal signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in neurotransmitter secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cAMP-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of excitatory postsynaptic potential	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of fibroblast growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuromuscular synaptic transmission	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of presynaptic active zone assembly	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synapse assembly	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of synapse maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synaptic transmission, GABAergic	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of synaptic transmission, glutamatergic	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of synaptic transmission, glutamatergic	NAS Non-traceable Author Statement more info	PubMed
involved_in postsynaptic density protein 95 clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in postsynaptic membrane assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in presynaptic membrane assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to synapse	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex assembly involved in synapse maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in receptor localization to synapse	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in vocal learning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vocalization behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	NAS Non-traceable Author Statement more info	PubMed
located_in axonal growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
located_in endocytic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	NAS Non-traceable Author Statement more info	PubMed
located_in neuromuscular junction	NAS Non-traceable Author Statement more info	PubMed
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	NAS Non-traceable Author Statement more info	PubMed
located_in presynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic membrane	TAS Traceable Author Statement more info	PubMed
part_of protein complex involved in cell-cell adhesion	ISO Inferred from Sequence Orthology more info
part_of protein complex involved in cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
part_of trans-synaptic protein complex	ISS Inferred from Sequence or Structural Similarity more info
located_in vesicle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: neurexin-1

Names: neurexin I

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011878.1 RefSeqGene

Range

5405..1119034

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135659.3 → NP_001129131.1 neurexin-1 isoform alpha2 precursor

See identical proteins and their annotated locations for NP_001129131.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha2) results from the use of the 5'-most promoter, referred to as alpha. It represents the longest transcript that encodes the longest isoform (alpha2) of the representative RefSeq variants. This isoform contains EGF-like, several laminin G, and syndecan domains.

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

Consensus CDS

CCDS46282.1

UniProtKB/TrEMBL

A0A0R4J2G7

Related

ENSP00000385142.1, ENST00000404971.5

Conserved Domains (6) summary

smart00294
Location:1492 → 1510

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:543 → 692

LamG; Laminin G domain

cd00054
Location:720 → 753

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:30 → 190

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam01034
Location:1472 → 1511

Syndecan; Syndecan domain

pfam02210
Location:973 → 1101

Laminin_G_2; Laminin G domain
NM_001320156.4 → NP_001307085.1 neurexin-1 isoform gamma1

Status: REVIEWED

Description

Transcript Variant: This variant (gamma1) results from the use of an alternate promoter, referred to as gamma. It contains an alternate 5' terminal exon and lacks all the exons, except the last two 3' terminal exons, compared to variant alpha2. Hence, the encoded isoform (gamma1) is considerably shorter with a distinct N-terminus lacking the EGF-like and laminin G domains, and containing only the syndecan domain compared to isoform alpha2.

Source sequence(s)

AC078994

Consensus CDS

CCDS82444.1

UniProtKB/TrEMBL

A0A1B0GTL0, H7BYC7

Related

ENSP00000367510.4, ENST00000378262.7

Conserved Domains (2) summary

smart00294
Location:87 → 105

4.1m; putative band 4.1 homologues' binding motif

pfam01034
Location:67 → 106

Syndecan; Syndecan domain
NM_001320157.4 → NP_001307086.1 neurexin-1 isoform gamma2

Status: REVIEWED

Description

Transcript Variant: This variant (gamma2) results from the use of an alternate promoter, referred to as gamma. It contains an alternate 5' terminal exon and lacks all the exons, except the last two 3' terminal exons (the penultimate exon uses an alternate in-frame donor splice site), compared to variant alpha2. Hence, the encoded isoform (gamma2) is considerably shorter with a distinct N-terminus lacking the EGF-like and laminin G domains, and containing only the syndecan domain compared to isoform alpha2.

Source sequence(s)

AC078994

Consensus CDS

CCDS82445.1

UniProtKB/TrEMBL

A0A1B0GTL0, H0Y568

Related

ENSP00000396738.2, ENST00000412315.5

Conserved Domains (2) summary

smart00294
Location:84 → 102

4.1m; putative band 4.1 homologues' binding motif

pfam01034
Location:64 → 103

Syndecan; Syndecan domain
NM_001330077.2 → NP_001317006.1 neurexin-1 isoform alpha3 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

Consensus CDS

CCDS82449.1

UniProtKB/TrEMBL

A0A0R4J2G7, A0A1D5RMU6

Related

ENSP00000486879.1, ENST00000630543.2

Conserved Domains (6) summary

smart00294
Location:1444 → 1462

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:495 → 644

LamG; Laminin G domain

cd00054
Location:672 → 705

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:30 → 190

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam01034
Location:1424 → 1463

Syndecan; Syndecan domain

pfam02210
Location:925 → 1053

Laminin_G_2; Laminin G domain
NM_001330078.2 → NP_001317007.1 neurexin-1 isoform alpha4 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

Consensus CDS

CCDS82451.1

UniProtKB/TrEMBL

A0A0R4J2G7, E7ERL8

Related

ENSP00000385017.2, ENST00000401669.7

Conserved Domains (6) summary

smart00294
Location:1452 → 1470

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:503 → 652

LamG; Laminin G domain

cd00054
Location:680 → 713

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:30 → 190

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam01034
Location:1432 → 1471

Syndecan; Syndecan domain

pfam02210
Location:933 → 1061

Laminin_G_2; Laminin G domain
NM_001330079.2 → NP_001317008.1 neurexin-1 isoform 6 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks multiple 3' coding exons and contains an alternate 3' terminal exon compared to variant alpha2. The encoded isoform (6) is much shorter than isoform alpha2.

Source sequence(s)

AC007682

Consensus CDS

CCDS86838.1

UniProtKB/TrEMBL

A0A0D9SEQ7, Q49A31

Related

ENSP00000485912.1, ENST00000626899.1

Conserved Domains (1) summary

cd00110
Location:30 → 190

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
NM_001330081.2 → NP_001317010.1 neurexin-1 isoform 7 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks multiple 3' coding exons and contains an alternate 3' terminal exon compared to variant alpha2. The encoded isoform (7) is much shorter than isoform alpha2.

Source sequence(s)

AC007682

Consensus CDS

CCDS86840.1

UniProtKB/TrEMBL

E7EQN4, Q49A31

Related

ENSP00000385310.1, ENST00000405581.3

Conserved Domains (1) summary

cd00110
Location:30 → 190

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
NM_001330082.2 → NP_001317011.1 neurexin-1 isoform alpha5 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

Consensus CDS

CCDS82450.1

UniProtKB/TrEMBL

A0A0R4J2G7

Related

ENSP00000485887.1, ENST00000625672.2

Conserved Domains (6) summary

smart00294
Location:1441 → 1459

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:495 → 644

LamG; Laminin G domain

cd00054
Location:672 → 705

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:30 → 190

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam01034
Location:1421 → 1460

Syndecan; Syndecan domain

pfam02210
Location:925 → 1053

Laminin_G_2; Laminin G domain
NM_001330083.2 → NP_001317012.1 neurexin-1 isoform alpha6 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A0A0R4J2G7
NM_001330084.2 → NP_001317013.1 neurexin-1 isoform alpha7 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A0A0R4J2G7
NM_001330085.2 → NP_001317014.1 neurexin-1 isoform alpha8 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A0A0R4J2G7
NM_001330086.2 → NP_001317015.1 neurexin-1 isoform alpha9 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A0A0R4J2G7
NM_001330087.2 → NP_001317016.1 neurexin-1 isoform alpha10 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A0A0R4J2G7
NM_001330088.2 → NP_001317017.1 neurexin-1 isoform alpha11 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A0A0R4J2G7
NM_001330089.2 → NP_001317018.1 neurexin-1 isoform 8 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks multiple 3' coding exons and contains an alternate 3' exon structure compared to variant alpha2. The encoded isoform (8) is much shorter than isoform alpha2 and has a distinct C-terminus.

Source sequence(s)

AC007682, BX113737

UniProtKB/TrEMBL

Q49A31

Conserved Domains (1) summary

cd00110
Location:30 → 190

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
NM_001330090.2 → NP_001317019.1 neurexin-1 isoform 9 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (9) lacks multiple 3' coding exons and contains an alternate 3' terminal exon compared to variant alpha2. The encoded isoform (9) is much shorter than isoform alpha2 and has a distinct C-terminus.

Source sequence(s)

AC007682

UniProtKB/TrEMBL

Q49A31

Related

ENSP00000490494.1, ENST00000637511.1
NM_001330091.2 → NP_001317020.1 neurexin-1 isoform beta2

Status: REVIEWED

Source sequence(s)

AC068725, AC069550, AC078994

Consensus CDS

CCDS82447.1

UniProtKB/TrEMBL

A0A0D9SEM5

Related

ENSP00000485815.1, ENST00000628364.2
NM_001330092.2 → NP_001317021.1 neurexin-1 isoform beta3

Status: REVIEWED

Source sequence(s)

AC068725, AC069550, AC078994

Consensus CDS

CCDS82446.1

UniProtKB/Swiss-Prot

E7ETA5, P58400

Related

ENSP00000385580.2, ENST00000401710.5

Conserved Domains (3) summary

smart00294
Location:417 → 435

4.1m; putative band 4.1 homologues' binding motif

cd00110
Location:90 → 209

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam01034
Location:397 → 436

Syndecan; Syndecan domain
NM_001330093.2 → NP_001317022.1 neurexin-1 isoform alpha12 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A0A0R4J2G7
NM_001330094.2 → NP_001317023.1 neurexin-1 isoform alpha13 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A0A0R4J2G7
NM_001330095.2 → NP_001317024.1 neurexin-1 isoform alpha14 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A0A0R4J2G7
NM_001330096.2 → NP_001317025.1 neurexin-1 isoform alpha15 precursor

Status: REVIEWED

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A0A0R4J2G7
NM_001330097.2 → NP_001317026.1 neurexin-1 isoform beta4

Status: REVIEWED

Source sequence(s)

AC068725, AC069550, AC078994

UniProtKB/TrEMBL

A4FVB9
NM_004801.6 → NP_004792.1 neurexin-1 isoform alpha1 precursor

See identical proteins and their annotated locations for NP_004792.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha1) results from the use of the 5'-most promoter, referred to as alpha. It lacks two in-frame exons and uses an alternate in-frame donor splice site at an internal exon compared to variant alpha2. The resulting isoform (alpha1) is shorter missing a few internal protein segments compared to isoform alpha2. This isoform contains EGF-like, several laminin G, and syndecan domains.

Source sequence(s)

AC007462, AC007682, AC009234, AC068725, AC069550, AC078994

Consensus CDS

CCDS54360.1

UniProtKB/Swiss-Prot

A7KRL9, O60323, Q53TJ9, Q53TQ1, Q5HYI0, Q9C079, Q9C080, Q9C081, Q9H3M2, Q9UDM6, Q9ULB1

UniProtKB/TrEMBL

A0A0R4J2G7

Related

ENSP00000384311.2, ENST00000406316.6

Conserved Domains (6) summary

smart00294
Location:1422 → 1440

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:503 → 652

LamG; Laminin G domain

cd00054
Location:680 → 713

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:30 → 190

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam01034
Location:1402 → 1441

Syndecan; Syndecan domain

pfam02210
Location:933 → 1061

Laminin_G_2; Laminin G domain
NM_138735.5 → NP_620072.1 neurexin-1 isoform beta1

See identical proteins and their annotated locations for NP_620072.1

Status: REVIEWED

Description

Transcript Variant: This variant (beta1) results from the use of an alternate promoter, referred to as beta. It contains an alternate 5' terminal exon and lacks most of the 5' exons and another exon in the 3' region compared to variant alpha2. The resulting isoform (beta1) is shorter with a distinct N-terminus lacking the EGF-like domain and containing fewer laminin G domains compared to isoform alpha2.

Source sequence(s)

AC068725, AC069550, AC078994

Consensus CDS

CCDS1845.1

UniProtKB/TrEMBL

A4FVB9

Related

ENSP00000341184.5, ENST00000342183.9

Conserved Domains (3) summary

smart00294
Location:387 → 405

4.1m; putative band 4.1 homologues' binding motif

pfam01034
Location:367 → 406

Syndecan; Syndecan domain

pfam02210
Location:121 → 239

Laminin_G_2; Laminin G domain