L1CAM and ANK1

Number of citations: 32 (PubMedID 11222639)
Data Source: HPRD (in vivo)

		L1CAM	ANK1
Name		L1 cell adhesion molecule	ankyrin 1
Structure
GO Annotations	Cellular Component	Plasma Membrane Focal Adhesion Cell Surface Membrane Axon Dendrite Growth Cone Extracellular Matrix Cell Projection Neuronal Cell Body Axonal Growth Cone	Cytoplasm Cytosol Cytoskeleton Plasma Membrane Cytoplasmic Side Of Plasma Membrane Spectrin-associated Cytoskeleton Membrane Basolateral Plasma Membrane Sarcoplasmic Reticulum Z Disc Axolemma M Band A Band Sarcolemma Neuron Projection Postsynaptic Membrane Cell Periphery Ankyrin-1 Complex
	Molecular Function	Protein Binding Axon Guidance Receptor Activity Protein Domain Specific Binding	Structural Molecule Activity Structural Constituent Of Cytoskeleton Protein Binding Cytoskeletal Anchor Activity Enzyme Binding Protein Phosphatase Binding Spectrin Binding Transmembrane Transporter Binding ATPase Binding
	Biological Process	Chemotaxis Cell Adhesion Homophilic Cell Adhesion Via Plasma Membrane Adhesion Molecules Cell-matrix Adhesion Nervous System Development Axon Guidance Cell Migration Cell Differentiation Neuron Projection Development Positive Regulation Of Axon Extension Synapse Organization Axon Development	Exocytosis Endoplasmic Reticulum To Golgi Vesicle-mediated Transport Cytoskeleton Organization Signal Transduction Positive Regulation Of Organelle Organization Maintenance Of Epithelial Cell Apical/basal Polarity Golgi Vesicle Transport Protein Localization To Plasma Membrane
Pathways		Basigin interactions L1CAM interactions L1CAM interactions Recycling pathway of L1 Recycling pathway of L1 Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins Signal transduction by L1	Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins NrCAM interactions CHL1 interactions Neurofascin interactions Neurofascin interactions COPI-mediated anterograde transport
Drugs		Ethanol	None
Diseases		Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS) L1 syndrome, including: ; X-linked hydrocephalus; MASA syndrome; X-linked complicated spastic paraplegia type I ; X-linked partial agenesis of corpus callosum Hereditary spastic paraplegia (SPG)	Hereditary spherocytosis (SPH)
GWAS		No GWAS studies recorded	Apolipoprotein B levels ( 32203549 ) Birth weight ( 31043758 27680694 ) Corrected insulin response ( 24699409 ) Corrected insulin response adjusted for insulin sensitivity index ( 24699409 ) Glycated hemoglobin levels ( 20858683 34059833 31213470 24647736 28898252 ) Granulocyte percentage of myeloid white cells ( 27863252 ) Hemoglobin ( 32888494 ) Hemoglobin levels ( 32327693 ) hemolysis of donated blood (osmotic) ( 34014839 ) High light scatter reticulocyte count ( 32888494 27863252 ) High light scatter reticulocyte percentage of red cells ( 27863252 32888494 ) Immature fraction of reticulocytes ( 27863252 32888494 ) Insulin levels adjusted for BMI ( 24699409 ) LDL cholesterol levels ( 32203549 ) Lymphocyte count ( 27863252 32888494 ) Lymphocyte percentage of white cells ( 32888494 27863252 ) Mean corpuscular hemoglobin concentration ( 28017375 32888494 27863252 ) Mean corpuscular volume ( 32888494 27863252 ) Mean reticulocyte volume ( 32888494 ) Mean spheric corpuscular volume ( 32888494 ) Monocyte count ( 32888494 ) Neutrophil percentage of white cells ( 32888494 27863252 ) Pulmonary function decline ( 22424883 ) Red blood cell count ( 32888494 ) Red cell distribution width ( 28957414 32888494 27863252 ) Reticulocyte count ( 32888494 27863252 ) Reticulocyte fraction of red cells ( 32888494 27863252 ) Sleep duration ( 30531941 ) Type 2 diabetes ( 22456796 32499647 22885922 24509480 26818947 28869590 29358691 30054458 30297969 30718926 )
Interacting Genes		24 interacting genes: ANK1 ANK2 CNTN1 CNTN2 CSNK2A1 EZR FGFR1 ITGA5 ITGAV LINC00839 MSN NCAM1 NCAN NRP1 NRP2 NUMB PEA15 PLXNA1 PLXNB1 PRNP RANBP9 RDX RPS6KA1 RPS6KA2	28 interacting genes: BLOC1S6 CD44 EMD EMP1 EPB42 FXYD3 HSPB1 ITPR3 KCTD6 L1CAM NBPF3 NFASC NRM OBSCN RBFA RHAG RTP2 RYR1 SLC30A8 SLC4A1 SLC4A3 SPTA1 SPTAN1 SPTB STRIT1 TIAM1 TMEM203 TTN
Entrez ID		3897	286
HPRD ID		02394	01693
Ensembl ID		ENSG00000198910	ENSG00000029534
Uniprot IDs		P32004	B3KX39 P16157
PDB IDs		8AFO 8AFP	1N11 2YQF 2YVI 3F59 3KBT 3KBU 3UD1 3UD2 7TW3 7TW5 7TW6 7UZQ 7UZU 7V0K 7V0M 7V0S 7V0X 8CS9 8CSL 8CSV 8CTE
GO Terms Enriched among Interactors		Postsynaptic Membrane Semaphorin Receptor Complex Semaphorin Receptor Activity Cell Projection Organization Regulation Of Cellular Component Organization Gonadotrophin-releasing Hormone Neuronal Migration To The Hypothalamus Plasma Membrane Plasma Membrane Bounded Cell Projection Organization Hypothalamus Cell Migration Positive Regulation Of Early Endosome To Late Endosome Transport Positive Regulation Of Protein Localization To Early Endosome Signal Transduction Semaphorin-plexin Signaling Pathway Neuron Projection Guidance Positive Regulation Of Protein Localization To Endosome Glutamatergic Synapse Cell Adhesion Focal Adhesion Cell Migration Neuron Migration Vestibulocochlear Nerve Structural Organization Dorsal Root Ganglion Morphogenesis Sensory Neuron Axon Guidance Facioacoustic Ganglion Development Regulation Of Early Endosome To Late Endosome Transport Regulation Of Protein Metabolic Process Neuron Projection Development Regulation Of Transport Regulation Of Cell Migration ATPase Binding Regulation Of Cell Motility Ventral Trunk Neural Crest Cell Migration Apical Part Of Cell Cell Motility Regulation Of Cell Communication Regulation Of Locomotion Cell Adhesion Molecule Binding Microvillus Membrane Gland Morphogenesis Cell Periphery Anatomical Structure Formation Involved In Morphogenesis Regulation Of Signal Transduction Intracellular Signal Transduction Dichotomous Subdivision Of Terminal Units Involved In Salivary Gland Branching Sympathetic Neuron Projection Guidance Trigeminal Ganglion Development Axon Guidance Regulation Of Anatomical Structure Morphogenesis Basolateral Plasma Membrane Membrane To Membrane Docking	Ankyrin Binding Ankyrin-1 Complex Spectrin Monoatomic Ion Homeostasis Monoatomic Cation Homeostasis Z Disc Chemical Homeostasis Bicarbonate Transport Plasma Membrane M Band Cortical Cytoskeleton Structural Constituent Of Cytoskeleton Intracellular Chemical Homeostasis Actin Filament Binding Actin Filament Capping Homeostatic Process Negative Regulation Of Actin Filament Depolymerization Intracellular Monoatomic Ion Homeostasis Inorganic Ion Homeostasis Cellular Homeostasis Bicarbonate Transmembrane Transporter Activity Spectrin-associated Cytoskeleton Negative Regulation Of Actin Filament Polymerization Regulation Of Actin Filament Depolymerization Membrane Intracellularly Gated Calcium Channel Activity Monoatomic Anion Transmembrane Transporter Activity Cortical Actin Cytoskeleton Inorganic Ion Transmembrane Transport Chloride:bicarbonate Antiporter Activity Solute:inorganic Anion Antiporter Activity Sarcoplasmic Reticulum Cell Cortex Negative Regulation Of Protein-containing Complex Disassembly Actin Cytoskeleton Organization Calmodulin Binding Transmembrane Transport Regulation Of Protein Depolymerization Intracellular Monoatomic Cation Homeostasis Actin Filament-based Process Antiporter Activity Secretory Granule Membrane Chloride Transmembrane Transport Focal Adhesion Cell-matrix Adhesion Chloride Transport Cytoplasmic Side Of Plasma Membrane Multicellular Organismal-level Iron Ion Homeostasis I Band Cell-cell Contact Zone