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NFASC

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

NFASC

Available structures

PDB

Ortholog search:PDBe RCSB

List of PDB id codes
3P3Y,3P40

Identifiers

Aliases

NFASC, NF, NRCAML, neurofascin, NEDCPMD

External IDs

OMIM:609145;MGI:104753;HomoloGene:24945;GeneCards:NFASC;OMA:NFASC - orthologs

Gene location (Human)

Chr.	Chromosome 1 (human)^[1]

Band	1q32.1	Start	204,828,651bp^[1]
Band	1q32.1	End	205,022,822bp^[1]

Gene location (Mouse)

Chr.	Chromosome 1 (mouse)^[2]

Band	1 E4\|1 57.42 cM	Start	132,492,428bp^[2]
Band	1 E4\|1 57.42 cM	End	132,669,535bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

inferior olivary nucleus

lateral nuclear group of thalamus

external globus pallidus

corpus callosum

dorsal motor nucleus of vagus nerve

inferior ganglion of vagus nerve

glomerulus

metanephric glomerulus

pars reticulata

pars compacta

Top expressed in

neural layer of retina

visual cortex

primary visual cortex

central gray substance of midbrain

cerebellar cortex

superior cervical ganglion

superior frontal gyrus

anterior horn of spinal cord

pontine nuclei

lumbar subsegment of spinal cord

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein domain specific binding protein binding protein binding involved in heterotypic cell-cell adhesion
Cellular component	integral component of membrane membrane focal adhesion myelin sheath plasma membrane Schwann cell microvillus intracellular anatomical structure axon paranodal junction axon initial segment paranode region of axon extracellular exosome node of Ranvier ficolin-1-rich granule membrane dendrite integral component of plasma membrane
Biological process	clustering of voltage-gated sodium channels peripheral nervous system development transmission of nerve impulse heterotypic cell-cell adhesion synapse organization protein localization to paranode region of axon cell adhesion paranodal junction assembly myelination protein localization to juxtaparanode region of axon axon guidance neutrophil degranulation protein localization to plasma membrane
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


23114


269116

Ensembl


ENSG00000163531


ENSMUSG00000026442

UniProt


O94856


Q810U3

RefSeq (mRNA)

NM_001005387 NM_001005388 NM_001005389 NM_001160331 NM_001160332
NM_001160333 NM_015090 NM_001365986 NM_001378330 NM_001378331 NM_001378329


NM_001160316 NM_001160317 NM_001160318 NM_182716

RefSeq (protein)

NP_001005388 NP_001005389 NP_001153803 NP_001153804 NP_001153805
NP_055905 NP_001352915 NP_001365259 NP_001365260 NP_001365258


NP_001153788 NP_001153789 NP_001153790 NP_874385

Location (UCSC)

Chr 1: 204.83 – 205.02 Mb

Chr 1: 132.49 – 132.67 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Neurofascin is aprotein that in humans is encoded by theNFASCgene.^[5]^[6]^[7]

Function

[edit]

Neurofascin is anL1 family immunoglobulincell adhesion molecule (seeL1CAM) involved inaxon subcellular targeting andsynapse formation duringneural development.^[7]^[8]

Clinical importance

[edit]

A homozygous mutation causing loss of Nfasc155 causes severe congenital hypotonia, contractures of fingers and toes and no reaction to touch or pain.^[9]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000163531 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000026442 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Volkmer H, Hassel B, Wolff JM, Frank R, Rathjen FG (July 1992)."Structure of the axonal surface recognition molecule neurofascin and its relationship to a neural subgroup of the immunoglobulin superfamily".The Journal of Cell Biology.118 (1):149–61.doi:10.1083/jcb.118.1.149.PMC 2289533.PMID 1377696.
^Burmeister M, Ren Q, Makris GJ, Samson D, Bennett V (July 1996). "Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes".Mammalian Genome.7 (7):558–9.doi:10.1007/s003359900168.PMID 8672144.S2CID 29190292.
^^a ^b"Entrez Gene: NFASC neurofascin homolog (chicken)".
^Ango F, di Cristo G, Higashiyama H, Bennett V, Wu P, Huang ZJ (October 2004)."Ankyrin-based subcellular gradient of neurofascin, an immunoglobulin family protein, directs GABAergic innervation at purkinje axon initial segment".Cell.119 (2):257–72.doi:10.1016/j.cell.2004.10.004.PMID 15479642.S2CID 16245348.
^Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R (August 2018)."Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia".Human Molecular Genetics.27 (21):3669–3674.doi:10.1093/hmg/ddy277.PMC 6196652.PMID 30124836.

Hortsch M (October 1996)."The L1 family of neural cell adhesion molecules: old proteins performing new tricks".Neuron.17 (4):587–93.doi:10.1016/S0896-6273(00)80192-0.PMID 8893017.S2CID 9625203.
Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (June 2002). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones".DNA Research.9 (3):99–106.CiteSeerX 10.1.1.500.923.doi:10.1093/dnares/9.3.99.PMID 12168954.
Tuvia S, Garver TD, Bennett V (November 1997)."The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation".Proceedings of the National Academy of Sciences of the United States of America.94 (24):12957–62.Bibcode:1997PNAS...9412957T.doi:10.1073/pnas.94.24.12957.PMC 24245.PMID 9371782.
Ren Q, Bennett V (May 1998)."Palmitoylation of neurofascin at a site in the membrane-spanning domain highly conserved among the L1 family of cell adhesion molecules".Journal of Neurochemistry.70 (5):1839–49.doi:10.1046/j.1471-4159.1998.70051839.x.PMID 9572267.
Zhang X, Davis JQ, Carpenter S, Bennett V (November 1998)."Structural requirements for association of neurofascin with ankyrin".The Journal of Biological Chemistry.273 (46):30785–94.doi:10.1074/jbc.273.46.30785.PMID 9804856.
Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (October 1998)."Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro".DNA Research.5 (5):277–86.doi:10.1093/dnares/5.5.277.PMID 9872452.
Koroll M, Rathjen FG, Volkmer H (April 2001)."The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self-associating activity".The Journal of Biological Chemistry.276 (14):10646–54.doi:10.1074/jbc.M010647200.PMID 11152476.
Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA (July 2001)."Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain".The Journal of Cell Biology.154 (2):427–34.doi:10.1083/jcb.200102086.PMC 2150779.PMID 11470829.
Jenkins SM, Kizhatil K, Kramarcy NR, Sen A, Sealock R, Bennett V (November 2001)."FIGQY phosphorylation defines discrete populations of L1 cell adhesion molecules at sites of cell-cell contact and in migrating neurons".Journal of Cell Science.114 (Pt 21):3823–35.doi:10.1242/jcs.114.21.3823.PMID 11719549.
Jenkins SM, Bennett V (November 2001)."Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segments".The Journal of Cell Biology.155 (5):739–46.doi:10.1083/jcb.200109026.PMC 2150881.PMID 11724816.
Charles P, Tait S, Faivre-Sarrailh C, Barbin G, Gunn-Moore F, Denisenko-Nehrbass N, Guennoc AM, Girault JA, Brophy PJ, Lubetzki C (February 2002)."Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction".Current Biology.12 (3):217–20.Bibcode:2002CBio...12..217C.doi:10.1016/S0960-9822(01)00680-7.PMID 11839274.S2CID 18017227.
Kizhatil K, Wu YX, Sen A, Bennett V (September 2002)."A new activity of doublecortin in recognition of the phospho-FIGQY tyrosine in the cytoplasmic domain of neurofascin".The Journal of Neuroscience.22 (18):7948–58.doi:10.1523/jneurosci.22-18-07948.2002.PMC 6758080.PMID 12223548.
Gollan L, Salomon D, Salzer JL, Peles E (December 2003)."Caspr regulates the processing of contactin and inhibits its binding to neurofascin".The Journal of Cell Biology.163 (6):1213–8.doi:10.1083/jcb.200309147.PMC 2173730.PMID 14676309.

Membrane proteins:cell adhesion molecules

Calcium-independent

IgSF CAM	N-CAM (Myelin protein zero) ICAM (1,5) VCAM-1 PE-CAM L1 family L1-CAM NRCAM NFASC CHL1 Nectin PVRL1 PVRL2 PVRL3 CADM1 CADM3 CD155
Integrins	LFA-1 (CD11a+CD18) Integrin alphaXbeta2 (CD11c+CD18) Macrophage-1 antigen (CD11b+CD18) VLA-4 (CD49d+CD29) Glycoprotein IIb/IIIa (ITGA2B+ITGB3)

Calcium-dependent

Cadherins

Classical	CDH1 CDH2 CDH3
Desmosomal	Desmoglein (DSG1,DSG2,DSG3,DSG4) Desmocollin (DSC1,DSC2,DSC3)
Protocadherin	PCDH1 PCDH15 PCDH19
Unconventional/ungrouped	T-cadherin CDH4 CDH5 CDH6 CDH8 CDH11 CDH12 CDH15 CDH16 CDH17 CDH9 CDH10

Selectins

Other

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References

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