Neurexin-1

Name	Neurexin-1
Synonyms	KIAA0578 Neurexin I-alpha Neurexin-1-alpha
Gene Name	NRXN1
Organism	Human
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 residues	None
Molecular Weight	161881.53
Theoretical pI	None
GO Classification	Functions cell adhesion molecule binding receptor activity calcium ion binding calcium channel regulator activity acetylcholine receptor binding neuroligin family protein binding Processes positive regulation of excitatory postsynaptic potential vocalization behavior axon guidance gephyrin clustering involved in postsynaptic density assembly prepulse inhibition neuroligin clustering involved in postsynaptic membrane assembly extracellular matrix organization positive regulation of synapse assembly neuron cell-cell adhesion learning positive regulation of synaptic transmission, glutamatergic postsynaptic density protein 95 clustering social behavior synaptic transmission postsynaptic membrane assembly regulation of insulin secretion involved in cellular response to glucose stimulus vocal learning positive regulation of synapse maturation neuromuscular process controlling balance adult behavior neurotransmitter secretion synapse assembly regulation of grooming behavior Components protein complex integral component of plasma membrane endoplasmic reticulum plasma membrane neuronal cell body cell surface presynaptic membrane vesicle cell junction nuclear membrane
General Function	Receptor activity
Specific Function	Cell 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).
Transmembrane Regions	1402-1422
GenBank Protein ID
UniProtKB ID	Q9ULB1
UniProtKB Entry Name
Cellular Location	Cell 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 ID
GeneCard ID	None
GenAtlas ID
HGNC ID
Chromosome Location	2
Locus	None
References	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 ] 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 ] 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 ] 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 ] 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 ] 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 ]

From www.t3db.ca