NameNeurexin-1
Synonyms
  • KIAA0578
  • Neurexin I-alpha
  • Neurexin-1-alpha
Gene NameNRXN1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0009036|Neurexin-1
MGTALLQRGGCFLLCLSLLLLGCWAELGSGLEFPGAEGQWTRFPKWNACCESEMSFQLKT
RSARGLVLYFDDEGFCDFLELILTRGGRLQLSFSIFCAEPATLLADTPVNDGAWHSVRIR
RQFRNTTLFIDQVEAKWVEVKSKRRDMTVFSGLFVGGLPPELRAAALKLTLASVREREPF
KGWIRDVRVNSSQVLPVDSGEVKLDDEPPNSGGGSPCEAGEEGEGGVCLNGGVCSVVDDQ
AVCDCSRTGFRGKDCSQEDNNVEGLAHLMMGDQGKSKGKEEYIATFKGSEYFCYDLSQNP
IQSSSDEITLSFKTLQRNGLMLHTGKSADYVNLALKNGAVSLVINLGSGAFEALVEPVNG
KFNDNAWHDVKVTRNLRQHSGIGHAMVTISVDGILTTTGYTQEDYTMLGSDDFFYVGGSP
STADLPGSPVSNNFMGCLKEVVYKNNDVRLELSRLAKQGDPKMKIHGVVAFKCENVATLD
PITFETPESFISLPKWNAKKTGSISFDFRTTEPNGLILFSHGKPRHQKDAKHPQMIKVDF
FAIEMLDGHLYLLLDMGSGTIKIKALLKKVNDGEWYHVDFQRDGRSGTISVNTLRTPYTA
PGESEILDLDDELYLGGLPENKAGLVFPTEVWTALLNYGYVGCIRDLFIDGQSKDIRQMA
EVQSTAGVKPSCSKETAKPCLSNPCKNNGMCRDGWNRYVCDCSGTGYLGRSCEREATVLS
YDGSMFMKIQLPVVMHTEAEDVSLRFRSQRAYGILMATTSRDSADTLRLELDAGRVKLTV
NLDCIRINCNSSKGPETLFAGYNLNDNEWHTVRVVRRGKSLKLTVDDQQAMTGQMAGDHT
RLEFHNIETGIITERRYLSSVPSNFIGHLQSLTFNGMAYIDLCKNGDIDYCELNARFGFR
NIIADPVTFKTKSSYVALATLQAYTSMHLFFQFKTTSLDGLILYNSGDGNDFIVVELVKG
YLHYVFDLGNGANLIKGSSNKPLNDNQWHNVMISRDTSNLHTVKIDTKITTQITAGARNL
DLKSDLYIGGVAKETYKSLPKLVHAKEGFQGCLASVDLNGRLPDLISDALFCNGQIERGC
EGPSTTCQEDSCSNQGVCLQQWDGFSCDCSMTSFSGPLCNDPGTTYIFSKGGGQITYKWP
PNDRPSTRADRLAIGFSTVQKEAVLVRVDSSSGLGDYLELHIHQGKIGVKFNVGTDDIAI
EESNAIINDGKYHVVRFTRSGGNATLQVDSWPVIERYPAGRQLTIFNSQATIIIGGKEQG
QPFQGQLSGLYYNGLKVLNMAAENDANIAIVGNVRLVGEVPSSMTTESTATAMQSEMSTS
IMETTTTLATSTARRGKPPTKEPISQTTDDILVASAECPSDDEDIDPCEPSSGGLANPTR
AGGREPYPGSAEVIRESSSTTGMVVGIVAAAALCILILLYAMYKYRNRDEGSYHVDESRN
YISNSAQSNGAVVKEKQPSSAKSSNKNKKNKDKEYYV
Number of residues1477
Molecular Weight161881.53
Theoretical pINot Available
GO Classification
Functions
  • acetylcholine receptor binding
  • neuroligin family protein binding
  • receptor activity
  • calcium ion binding
  • cell adhesion molecule binding
  • calcium channel regulator activity
Processes
  • extracellular matrix organization
  • learning
  • regulation of grooming behavior
  • social behavior
  • vocalization behavior
  • gephyrin clustering involved in postsynaptic density assembly
  • neuroligin clustering involved in postsynaptic membrane assembly
  • neuromuscular process controlling balance
  • neuron cell-cell adhesion
  • adult behavior
  • postsynaptic density protein 95 clustering
  • synapse assembly
  • synaptic transmission
  • postsynaptic membrane assembly
  • positive regulation of excitatory postsynaptic potential
  • vocal learning
  • prepulse inhibition
  • positive regulation of synapse assembly
  • positive regulation of synaptic transmission, glutamatergic
  • neurotransmitter secretion
  • regulation of insulin secretion involved in cellular response to glucose stimulus
  • axon guidance
  • positive regulation of synapse maturation
Components
  • protein complex
  • neuronal cell body
  • presynaptic membrane
  • endoplasmic reticulum
  • plasma membrane
  • cell surface
  • vesicle
  • cell junction
  • nuclear membrane
  • integral component of plasma membrane
General FunctionReceptor activity
Specific FunctionCell surface protein involved in cell-cell-interactions, exocytosis 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-latrotoxin from spider venom (By similarity).
Pfam Domain Function
Transmembrane Regions1402-1422
GenBank Protein IDNot Available
UniProtKB IDQ9ULB1
UniProtKB Entry NameNRX1A_HUMAN
Cellular LocationCell membrane
Gene sequence
>lcl|BSEQ0021961|Neurexin-1 (NRXN1)
ATGGGGACGGCGCTGCTCCAGCGCGGGGGCTGTTTTCTTCTGTGCCTCTCGCTGCTGCTC
CTGGGCTGCTGGGCGGAGCTGGGCAGCGGGCTGGAGTTTCCGGGCGCCGAGGGCCAATGG
ACGCGCTTCCCCAAGTGGAACGCCTGCTGCGAGAGCGAGATGAGCTTCCAGCTCAAGACT
CGCAGCGCCCGCGGCCTCGTGCTCTACTTCGACGACGAGGGCTTCTGCGACTTCCTGGAG
CTGATTCTGACGCGCGGCGGCCGCCTGCAGCTCAGCTTCTCCATCTTCTGCGCTGAGCCT
GCGACGCTCCTGGCCGACACGCCGGTTAACGACGGCGCCTGGCACAGCGTGCGCATCCGC
CGCCAGTTCCGCAACACCACGCTCTTCATCGACCAGGTGGAGGCCAAGTGGGTGGAGGTC
AAGTCCAAGCGCAGGGACATGACGGTGTTCAGCGGCCTTTTCGTCGGGGGGCTGCCCCCG
GAACTGCGCGCCGCGGCGCTCAAGCTCACCCTGGCCTCGGTGAGGGAGCGGGAGCCCTTC
AAGGGGTGGATTCGTGACGTGAGGGTCAACTCCTCGCAGGTCCTGCCCGTGGACAGCGGC
GAGGTGAAGCTGGACGATGAGCCGCCCAACAGCGGCGGGGGAAGCCCGTGCGAGGCGGGC
GAGGAGGGCGAGGGCGGGGTGTGCCTCAACGGAGGTGTGTGCTCCGTGGTGGACGACCAG
GCCGTGTGCGACTGCTCGCGAACCGGCTTCCGCGGCAAGGACTGCAGCCAAGAAATAAAA
TTCGGTCTTCAGTGTGTTTTGCCGGTGCTGTTACATGACAATGACCAAGGAAAATACTGT
TGTATAAATACAGCAAAGCCTCTAACAGAAAAAGACAACAATGTGGAAGGTCTGGCGCAC
CTGATGATGGGCGACCAAGGTAAAAGTAAAGGAAAAGAAGAATATATTGCCACGTTCAAA
GGATCTGAATACTTCTGCTACGACTTGTCTCAAAACCCCATTCAAAGCAGCAGTGATGAA
ATAACTCTGTCATTTAAAACCCTTCAGAGGAATGGACTGATGCTTCACACTGGGAAATCG
GCTGATTATGTCAATCTTGCCCTGAAAAATGGAGCTGTCTCTCTGGTCATTAATTTGGGA
TCAGGGGCCTTTGAAGCACTAGTGGAGCCTGTGAATGGAAAGTTTAATGATAATGCCTGG
CATGATGTGAAAGTCACCAGGAATCTGCGTCAGCACTCAGGCATTGGACACGCTATGGTA
AACAAACTACATTGTTCGGTGACAATATCAGTGGATGGGATTCTTACCACAACGGGCTAC
ACGCAAGAAGATTATACCATGCTGGGGTCTGATGACTTTTTCTATGTTGGAGGCAGTCCC
AGCACAGCCGACCTTCCAGGGTCACCAGTCAGTAACAACTTTATGGGCTGTCTCAAAGAG
GTTGTATATAAAAATAATGATGTGAGGCTGGAATTATCTCGACTTGCCAAGCAAGGAGAT
CCTAAGATGAAGATCCATGGAGTGGTGGCATTTAAATGTGAGAATGTTGCAACTTTAGAC
CCAATCACCTTTGAAACCCCAGAGTCTTTCATCTCTTTGCCTAAATGGAATGCAAAGAAA
ACTGGCTCCATATCATTTGATTTCCGTACAACAGAGCCAAATGGCCTCATCTTATTTAGC
CATGGCAAGCCAAGACATCAGAAAGATGCCAAGCACCCACAGATGATAAAGGTGGACTTC
TTTGCTATTGAGATGCTAGATGGCCACCTCTACCTCCTCCTGGACATGGGGTCAGGTACT
ATAAAAATAAAAGCCCTGTTGAAGAAAGTGAATGATGGAGAATGGTATCATGTGGACTTC
CAGAGAGACGGACGGTCAGGTACCATTTCTGTCAACACGTTGCGTACTCCCTACACTGCT
CCTGGTGAGAGTGAGATTCTGGACCTGGATGATGAGTTGTACCTGGGGGGGCTGCCAGAA
AATAAAGCTGGCCTTGTCTTCCCCACCGAGGTGTGGACTGCTCTGCTCAACTATGGCTAC
GTGGGCTGCATCAGGGATTTGTTCATCGATGGCCAAAGCAAAGATATCCGGCAAATGGCT
GAAGTTCAAAGTACTGCTGGAGTGAAGCCTTCCTGCTCAAAGGAAACAGCAAAACCGTGC
CTTAGCAACCCTTGCAAAAACAATGGCATGTGCAGGGATGGGTGGAACAGATATGTCTGT
GATTGTTCCGGAACAGGCTATCTTGGCAGGTCCTGTGAGAGAGAGGCAACGGTTTTGAGC
TATGATGGGAGCATGTTTATGAAAATTCAGCTCCCCGTAGTCATGCATACGGAGGCTGAG
GATGTTTCCTTACGGTTCCGATCCCAGCGTGCATATGGCATTCTGATGGCAACCACTTCT
AGAGACTCTGCTGACACCCTCCGCCTGGAGCTAGACGCAGGACGTGTGAAACTGACGGTC
AATCTAGATTGTATCAGGATTAACTGTAATTCCAGCAAAGGTCCCGAGACTCTTTTTGCT
GGCTATAACCTCAATGATAACGAGTGGCACACAGTGCGTGTAGTTCGGCGTGGAAAAAGT
TTAAAGTTAACAGTGGATGACCAACAGGCCATGACAGGTCAAATGGCAGGTGATCATACT
AGGCTGGAGTTCCATAACATAGAGACTGGCATCATCACAGAACGACGGTATCTTTCTTCT
GTCCCCTCCAACTTCATTGGACACCTGCAGAGCTTGACATTTAATGGAATGGCATACATT
GACCTGTGTAAAAATGGCGACATAGATTACTGTGAGCTTAATGCCAGATTTGGCTTCAGG
AACATCATAGCAGATCCTGTCACCTTCAAGACCAAATCGAGCTATGTTGCCTTAGCTACC
TTGCAAGCCTACACTTCTATGCATCTTTTTTTCCAGTTCAAGACAACATCCCTAGATGGA
TTAATTCTATATAACAGTGGGGATGGAAATGACTTTATTGTGGTTGAATTAGTTAAAGGG
TACTTACATTACGTGTTTGATTTGGGAAATGGTGCTAACCTCATCAAAGGAAGCTCAAAT
AAACCTCTCAATGACAATCAGTGGCACAACGTGATGATATCAAGGGACACCAGCAACCTC
CACACTGTAAAGATTGACACAAAAATCACAACGCAAATCACCGCCGGAGCCAGGAACTTA
GACCTCAAGAGTGACTTATATATAGGAGGAGTAGCTAAAGAAACATACAAATCCTTACCA
AAACTTGTACATGCCAAAGAAGGCTTTCAAGGCTGCCTGGCATCAGTTGATTTAAATGGA
CGGCTTCCGGACCTCATCTCCGATGCTCTTTTCTGCAACGGACAGATCGAGAGAGGATGT
GAAGGGCCCAGCACAACCTGCCAAGAGGACTCATGTTCCAATCAAGGTGTGTGCTTGCAA
CAATGGGATGGCTTCAGCTGTGACTGTAGTATGACTTCCTTCAGTGGACCACTCTGCAAT
GACCCTGGGACGACATATATCTTTAGCAAAGGTGGTGGACAAATCACGTATAAGTGGCCT
CCTAATGACCGACCCAGTACACGAGCAGACAGACTGGCCATAGGTTTTAGCACTGTTCAG
AAAGAAGCCGTATTGGTGCGAGTGGACAGTTCTTCAGGCTTGGGTGACTACCTAGAACTG
CATATACACCAGGGAAAAATTGGAGTTAAGTTTAATGTTGGGACAGATGACATCGCCATT
GAAGAATCCAATGCAATCATTAATGATGGGAAATACCATGTAGTTCGTTTCACGAGGAGT
GGTGGCAATGCCACGTTGCAGGTGGACAGCTGGCCAGTGATCGAGCGCTACCCTGCAGGA
AACAATGATAACGAGCGCCTGGCGATTGCTAGACAGCGAATTCCATATCGACTTGGTCGA
GTAGTTGATGAATGGCTACTCGACAAAGGGCGTCAGCTCACAATCTTCAATAGCCAAGCA
ACCATAATAATTGGCGGGAAAGAGCAGGGCCAGCCCTTCCAGGGCCAGCTCTCTGGGCTG
TACTACAATGGCTTGAAAGTTCTGAATATGGCAGCCGAAAACGATGCCAACATCGCCATA
GTGGGAAATGTGAGACTGGTTGGTGAAGTGCCTTCCTCTATGACAACTGAGTCAACAGCC
ACTGCCATGCAATCAGAGATGTCCACATCAATTATGGAGACTACCACGACCCTGGCTACT
AGCACAGCCAGAAGAGGAAAGCCCCCGACAAAAGAACCCATTAGCCAGACCACAGATGAC
ATCCTTGTGGCCTCAGCAGAGTGTCCCAGCGATGATGAGGACATTGACCCCTGTGAGCCG
AGCTCAGGTGGGTTAGCCAACCCAACCCGAGCAGGCGGCAGAGAGCCGTATCCAGGCTCA
GCAGAAGTGATCCGGGAGTCCAGCAGCACCACGGGTATGGTCGTTGGGATAGTAGCCGCT
GCCGCCCTGTGCATCCTTATCCTCCTCTATGCCATGTACAAGTACAGAAACCGGGATGAA
GGCTCATACCATGTGGACGAGAGTCGAAACTACATCAGTAACTCAGCACAGTCCAATGGG
GCTGTTGTAAAGGAGAAACAACCCAGCAGTGCGAAAAGCTCCAACAAAAATAAGAAAAAC
AAGGATAAAGAGTATTATGTCTGA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:8008
Chromosome Location2
LocusNot Available
References
  1. Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF: Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008 Jan;82(1):199-207. doi: 10.1016/j.ajhg.2007.09.011. 18179900
  2. Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 1998 Feb 28;5(1):31-9. 9628581
  3. Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. DNA Res. 2002 Jun 30;9(3):99-106. 12168954
  4. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. 15815621
  5. Rowen L, Young J, Birditt B, Kaur A, Madan A, Philipps DL, Qin S, Minx P, Wilson RK, Hood L, Graveley BR: Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity. Genomics. 2002 Apr;79(4):587-97. 11944992
  6. Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE: Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet. 2013 Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15. 22892527