Neural cell adhesion molecule L1 Recombinant Protein | L1CAM recombinant protein

Recombinant Human Neural cell adhesion molecule L1 protein

Cat. Num. AAA1265315

• Gene Names: L1CAM; S10; HSAS; MASA; MIC5; SPG1; CAML1; CD171; HSAS1; N-CAML1; NCAM-L1; N-CAM-L1
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Neural cell adhesion molecule L1; Recombinant Human Neural cell adhesion molecule L1 protein; CD171; L1CAM recombinant protein

• Host: E Coli
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Liquid containing glycerol
• Sequence Positions: 1003-1114aa; Partial
• Sequence: EAIVREGGTMALSGISDFGNISATAGENYSVVSWVPKEGQCNFRFHILFKALGEEKGGASLSPQYVSYNQSSYTQWDLQPDTDYEIHLFKERMFRHQMAVKTNGTGRVRLPP
• Sequence Length: 1257

• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for L1CAM recombinant protein

Cell adhesion molecule with an important role in the development of the nervous system. Involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to axonin on neurons.

Product Categories/Family for L1CAM recombinant protein

Cell adhesion

References

Molecular cloning of cell adhesion molecule L1 from human nervous tissue a comparison of the primary sequences of L1 molecules of different origin.Kobayashi M., Miura M., Asou H., Uyemura K.Biochim. Biophys. Acta 1090:238-240(1991) Molecular structure and functional testing of human L1CAM an interspecies comparison.Hlavin M.L., Lemmon V.Genomics 11:416-423(1991) Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA.Reid R.A., Hemperly J.J.J. Mol. 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A human brain glycoprotein related to the mouse cell adhesion molecule L1.Wolff J.M., Frank R., Mujoo K., Spiro R.C., Reisfeld R.A., Rathjen F.G.J. Biol. Chem. 263:11943-11947(1988) The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.Djabali M., Mattei M.-G., Nguyen C., Roux D., Demengeot J., Denizot F., Moos M., Schachner M., Goridis C., Jordan B.R.Genomics 7:587-593(1990) PCR walking from microdissection clone M54 identifies three exons from the human gene for the neural cell adhesion molecule L1 (CAM-L1) .Rosenthal A., Mackinnon R.N., Jones D.S.C.Nucleic Acids Res. 19:5395-5401(1991) Isolation and sequence of partial cDNA clones of human L1 homology of human and rodent L1 in the cytoplasmic region.Harper J.R., Prince J.T., Healy P.A., Stuart J.K., Nauman S.J., Stallcup W.B.J. Neurochem. 56:797-804(1991) Casein kinase II phosphorylates the neural cell adhesion molecule L1.Wong E.V., Schaefer A.W., Landreth G., Lemmon V.J. Neurochem. 66:779-786(1996) Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.J. Proteome Res. 4:2070-2080(2005) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.Cell 127:635-648(2006) A quantitative atlas of mitotic phosphorylation.Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.J. Proteome Res. 8:651-661(2009) Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.Sci. Signal. 3:RA3-RA3(2010) Initial characterization of the human central proteome.Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.BMC Syst. Biol. 5:17-17(2011) System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.Sci. Signal. 4:RS3-RS3(2011) A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) .Jouet M., Rosenthal A., Macfarlane J., Kenwrick S., Donnai D.Nat. Genet. 4:331-331(1993) X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.Fransen E., Schrander-Stumpel C., Vits L., Coucke P., van Camp G., Willems P.J.Hum. Mol. Genet. 3:2255-2256(1994) X-linked spastic paraplegia (SPG1) , MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.Jouet M., Rosenthal A., Armstrong G., Macfarlane J., Stevenson R., Paterson J., Metzenberg A., Ionasescu V., Temple K., Kenwrick S.Nat. Genet. 7:402-407(1994) MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.Vits L., van Camp G., Coucke P., Fransen E., de Boulle K., Reyniers E., Korn B., Poustka A., Wilson G., Schrander-Stumpel C., Winter R.M., Schwartz C., Willems P.J.Nat. Genet. 7:408-413(1994) New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.Jouet M., Moncla A., Paterson J., McKeown C., Fryer A., Carpenter N., Holmberg E., Wadelius C., Kenwrick S.Am. J. Hum. Genet. 56:1304-1314(1995) CRASH syndrome clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.Fransen E., Lemmon V., van Camp G., Vits L., Coucke P., Willems P.J.Eur. J. Hum. Genet. 3:273-284(1995) ErratumFransen E., Lemmon V., van Camp G., Vits L., Coucke P., Willems P.J.Eur. J. Hum. Genet. 4:126-126(1996) Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.Ruiz J.C., Cuppens H., Legius E., Fryns J.-P., Glover T., Marynen P., Cassiman J.-J.J. Med. Genet. 32:549-552(1995) A new mutation of the L1CAM gene in an X-linked hydrocephalus family.Izumoto S., Yamasaki M., Arita N., Hiraga S., Ohnishi T., Fujitani K., Sakoda S., Hayakawa T.Childs Nerv. Syst. 12:742-747(1996) Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.Gu S.-M., Orth U., Veske A., Enders H., Kluender K., Schloesser M., Engel W., Schwinger E., Gal A.J. Med. Genet. 33:103-106(1996) Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.Gu S.-M., Orth U., Zankl M., Schroeder J., Gal A.3.0.CO;2-L>Am. J. Med. Genet. 71:336-340(1997) L1-associated diseases clinical geneticists divide, molecular geneticists unite.Fransen E., Van Camp G., Vits L., Willems P.J.Hum. Mol. Genet. 6:1625-1632(1997) Nine novel L1 CAM mutations in families with X-linked hydrocephalus.Macfarlane J.R., Du J.-S., Pepys M.E., Ramsden S., Donnai D., Charlton R., Garrett C., Tolmie J., Yates J.R.W., Berry C., Goudie D., Moncla A., Lunt P., Hodgson S., Jouet M., Kenwrick S.3.0.CO;2-3>Hum. Mutat. 9:512-518(1997) Multiple exon screening using restriction endonuclease fingerprinting (REF) detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.Du Y.-Z., Srivastava A.K., Schwartz C.E.3.0.CO;2-J>Hum. Mutat. 11:222-230(1998) Evidence for somatic and germline mosaicism in CRASH syndrome.Vits L., Chitayat D., van Camp G., Holden J.J.A., Fransen E., Willems P.J.Hum. Mutat. Suppl. 1:S284-S287(1998) Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.Saugier-Veber P., Martin C., le Meur N., Lyonnet S., Munnich A., David A., Henocq A., Heron D., Jonveaux P., Odent S., Manouvrier S., Moncla A., Morichon N., Philip N., Satge D., Tosi M., Frebourg T.3.0.CO;2-A>Hum. Mutat. 12:259-266(1998) The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.Michaelis R.C., Du Y.-Z., Schwartz C.E.J. Med. Genet. 35:901-904(1998) Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.Finckh U., Schroeder J., Ressler B., Veske A., Gal A.3.0.CO;2-R>Am. J. Med. Genet. 92:40-46(2000) Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.Sztriha L., Frossard P., Hofstra R.M., Verlind E., Nork M.J. Child Neurol. 15:239-243(2000) Hydrocephalus and intestinal aganglionosis is L1CAM a modifier gene in Hirschsprung disease?Parisi M.A., Kapur R.P., Neilson I., Hofstra R.M.W., Holloway L.W., Michaelis R.C., Leppig K.A.Am. J. Med. Genet. 108:51-56(2002) X-linked hydrocephalus a novel missense mutation in the L1CAM gene.Sztriha L., Vos Y.J., Verlind E., Johansen J., Berg B.Pediatr. Neurol. 27:293-296(2002) Expanding the phenotypic spectrum of L1CAM-associated disease.Basel-Vanagaite L., Straussberg R., Friez M.J., Inbar D., Korenreich L., Shohat M., Schwartz C.E.Clin. Genet. 69:414-419(2006) A novel missense mutation in the L1CAM gene in a boy with L1 disease.Simonati A., Boaretto F., Vettori A., Dabrilli P., Criscuolo L., Rizzuto N., Mostacciuolo M.L.Neurol. Sci. 27:114-117(2006) Association of X-linked hydrocephalus and Hirschsprung disease Report of a new patient with a mutation in the L1CAM gene.Fernandez R.M., Nunez-Torres R., Garcia-Diaz L., de Agustin J.C., Antinolo G., Borrego S.Am. J. Med. Genet. A 158:816-820(2012) +Additional computationally mapped references.<p>Provides general information on the entry.

NCBI and Uniprot Product Information

• NCBI GI #: 4557707
• NCBI GeneID: 3897
• NCBI Accession #: NP_000416.1
• NCBI GenBank Nucleotide #: NM_000425.4
• UniProt Accession #: P32004; Q8TA87; A0AV65; A4ZYW4; B2RMU7; G3XAF4
• Molecular Weight: 16.6kD
• NCBI Official Full Name: neural cell adhesion molecule L1 isoform 1
• NCBI Official Synonym Full Names: L1 cell adhesion molecule
• NCBI Official Symbol: L1CAM
• NCBI Official Synonym Symbols: S10; HSAS; MASA; MIC5; SPG1; CAML1; CD171; HSAS1; N-CAML1; NCAM-L1; N-CAM-L1
• NCBI Protein Information: neural cell adhesion molecule L1
• UniProt Protein Name: Neural cell adhesion molecule L1
• Protein Family: Neural cell adhesion molecule
• UniProt Gene Name: L1CAM
• UniProt Synonym Gene Names: CAML1; MIC5; N-CAM-L1; NCAM-L1
• UniProt Entry Name: L1CAM_HUMAN

NCBI Description

The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]

Uniprot Description

NCAM-L1: cell adhesion molecule with an important role in the development of the nervous system. Involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to axonin on neurons. Two splice-variant isoforms have been described.

Protein type: Membrane protein, integral; Cell adhesion

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: cell surface; external side of plasma membrane; focal adhesion; integral to membrane; plasma membrane; presynaptic membrane; terminal button

Molecular Function: identical protein binding; integrin binding; protein self-association; sialic acid binding

Biological Process: axon guidance; blood coagulation; cell adhesion; cell surface receptor linked signal transduction; cell-cell adhesion mediated by integrin; chemotaxis; heterophilic cell adhesion; homophilic cell adhesion; homotypic cell-cell adhesion; leukocyte adhesion; leukocyte migration; nervous system development; positive regulation of axon extension; positive regulation of calcium-mediated signaling; positive regulation of cell-cell adhesion

Disease: Corpus Callosum, Partial Agenesis Of, X-linked; Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius; Masa Syndrome