Human Gene NRXN1 (ENST00000401669.7) from GENCODE V38
  Description: Homo sapiens neurexin 1 (NRXN1), transcript variant alpha13, mRNA. (from RefSeq NM_001330094)
RefSeq Summary (NM_001330078): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000401669.7
Gencode Gene: ENSG00000179915.24
Transcript (Including UTRs)
   Position: hg38 chr2:49,918,503-51,032,132 Size: 1,113,630 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg38 chr2:49,921,944-51,028,273 Size: 1,106,330 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:49,918,503-51,032,132)mRNA (may differ from genome)Protein (1507 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIOMIMPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: E7ERL8_HUMAN
DESCRIPTION: SubName: Full=Neurexin-1-beta;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: NRXN1
Diseases sorted by gene-association score: pitt-hopkins-like syndrome 2* (1019), schizophrenia 17* (575), pitt-hopkins-like syndrome* (369), pitt-hopkins syndrome (14), astigmatism (7), autism spectrum disorder (6), schizophrenia (4), pervasive developmental disorder (2), autistic disorder (1), nicotine dependence, protection against (1), disease of mental health (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.14 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 116.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -333.501073-0.311 Picture PostScript Text
3' UTR -717.203441-0.208 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008985 - ConA-like_lec_gl_sf
IPR013320 - ConA-like_subgrp
IPR000742 - EG-like_dom
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR001791 - Laminin_G
IPR003585 - Neurexin-like

Pfam Domains:
PF02210 - Laminin G domain

ModBase Predicted Comparative 3D Structure on E7ERL8
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI Ensembl   
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005730 nucleolus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB011150 - Homo sapiens mRNA for KIAA0578 protein, partial cds.
AB035356 - Homo sapiens mRNA for neurexin I-alpha protein, complete cds.
EF539882 - Homo sapiens NRXN1-alpha mRNA, complete cds, alternatively spliced.
AF064842 - Homo sapiens map 2q30-p32; 202.6 cR from top repeat region, complete sequence.
BC125179 - Homo sapiens neurexin 1, mRNA (cDNA clone IMAGE:40121982), partial cds.
BC125180 - Homo sapiens neurexin 1, mRNA (cDNA clone IMAGE:40121989), complete cds.
AB383911 - Synthetic construct DNA, clone: pF1KSDA0578, Homo sapiens NRXN1 gene for neurexin-1-alpha precursor, complete cds, without stop codon, in Flexi system.
AK093260 - Homo sapiens cDNA FLJ35941 fis, clone TESTI2011680, highly similar to Homo sapiens mRNA for neurexin I-alpha protein.
BX647616 - Homo sapiens mRNA; cDNA DKFZp313P2036 (from clone DKFZp313P2036).
AK295773 - Homo sapiens cDNA FLJ57994 complete cds, highly similar to Neurexin-1-alpha precursor.
BC046631 - Homo sapiens neurexin 1, mRNA (cDNA clone IMAGE:4815048), complete cds.
AK124726 - Homo sapiens cDNA FLJ42736 fis, clone BRAWH2015866, highly similar to Homo sapiens mRNA for neurexin I-alpha protein.
JD446195 - Sequence 427219 from Patent EP1572962.
JD302183 - Sequence 283207 from Patent EP1572962.
JD050380 - Sequence 31404 from Patent EP1572962.
JD097201 - Sequence 78225 from Patent EP1572962.
JD113407 - Sequence 94431 from Patent EP1572962.
JD313508 - Sequence 294532 from Patent EP1572962.
JD281054 - Sequence 262078 from Patent EP1572962.
JD259761 - Sequence 240785 from Patent EP1572962.
AF087975 - Homo sapiens full length insert cDNA clone YW18F07.
JD472056 - Sequence 453080 from Patent EP1572962.
JD526426 - Sequence 507450 from Patent EP1572962.
JD052326 - Sequence 33350 from Patent EP1572962.
JD087600 - Sequence 68624 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)

-  Other Names for This Gene
  Alternate Gene Symbols: E7ERL8, E7ERL8_HUMAN, ENST00000401669.1, ENST00000401669.2, ENST00000401669.3, ENST00000401669.4, ENST00000401669.5, ENST00000401669.6, NM_001330094, uc061jbg.1, uc061jbg.2
UCSC ID: ENST00000401669.7
RefSeq Accession: NM_001330078
Protein: E7ERL8 CCDS: CCDS46282.1, CCDS54360.1, CCDS82449.1, CCDS82450.1, CCDS82451.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.