Human Gene NRXN1 (ENST00000625672.2) from GENCODE V38
Description: Homo sapiens neurexin 1 (NRXN1), transcript variant alpha5, mRNA. (from RefSeq NM_001330082) 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: ENST00000625672.2 Gencode Gene: ENSG00000179915.24 Transcript (Including UTRs) Position: hg38 chr2:49,918,505-51,028,456 Size: 1,109,952 Total Exon Count: 21 Strand: - Coding Region Position: hg38 chr2:49,921,944-51,028,273 Size: 1,106,330 Coding Exon Count: 21
ID:NRX1A_HUMAN DESCRIPTION: RecName: Full=Neurexin-1-alpha; AltName: Full=Neurexin I-alpha; Flags: Precursor; FUNCTION: Cell surface protein involved in cell-cell-interactions, excytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)- triggered exocytosis of secretory granules in pituitary gland. They may effect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their calcium-dependent interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latroxin from spider venom (By similarity). SUBUNIT: Interacts (via laminin G-like domain 2 and/or laminin G- like domain 6) with NLGN1 forming a heterotetramer, where one NLGN1 dimer interacts with one NRXN1 dimer. Interacts (via laminin G-like domain 2 and/or laminin G-like domain 6) with NLGN1, NLGN2, NLGN3, NLGN4X and NLGN4Y; these interactions are calcium- dependent. Interacts (via laminin G-like domain 2) with NXPH1 and NXPH3. Interacts with CBLN1 and CBLN2. Interacts with LRRTM1, LRRTM2, LRRTM3 and LRRTM4 (By similarity). Alpha-type isoforms (neurexin-1-alpha) interact (via laminin G-like domain 2 and/or laminin G-like domain 6) with DAG1 (via alpha-dystroglycan chain). Alpha-type isoforms interact with alpha-latroxin from spider venom. The cytoplasmic C-terminal region binds to CASK, CASKIN1 and APBA1. Interacts with SYT13 and SYTL1 (By similarity). SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (Probable). Cell junction, synapse (Probable). Note=Localized on the pre-synaptic membrane (By similarity). TISSUE SPECIFICITY: Brain. PTM: N-glycosylated (By similarity). PTM: O-glycosylated (By similarity). SIMILARITY: Belongs to the neurexin family. SIMILARITY: Contains 3 EGF-like domains. SIMILARITY: Contains 6 laminin G-like domains. SEQUENCE CAUTION: Sequence=BAA25504.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
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.
ModBase Predicted Comparative 3D Structure on Q9ULB1
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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.