Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

L1CAM_HUMAN

Evidence for PS localization

GO
G2C
SynGO
SynaptomeDB
HPA (protein expression in neurons)

Functions

Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity. [View more on UniProt]

Protein features

Binary interactions with known binding regions

Interacting region for partners were not defined.

Network

Download full PS network for entry.

Isoforms

Disease-causing germline mutations

Position Amino acid Mutation Disease Overlap with binding region
9 Trp Ser HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
121 Gly Ser HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
179 Ile Ser HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
179 Ile Ser MASAsyndrome(MASA) -
184 Arg Gln HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
194 Tyr Cys HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
210 His Gln MASAsyndrome(MASA) -
219 Ile Thr HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
240 Pro Leu Agenesisofthecorpuscallosum,X-linked,partial(ACCPX) -
240 Pro Leu HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
264 Cys Tyr HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
309 Glu Lys MASAsyndrome(MASA) -
335 Trp Arg HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
335 Trp Arg MASAsyndrome(MASA) -
370 Gly Arg HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
370 Gly Arg MASAsyndrome(MASA) -
386 Arg Cys HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
452 Gly Arg HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
473 Arg Cys HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
473 Arg Cys MASAsyndrome(MASA) -
598 Asp Asn MASAsyndrome(MASA) -
632 Arg Pro MASAsyndrome(MASA) -
691 Ala Asp MASAsyndrome(MASA) -
698 Gly Arg HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
698 Gly Arg MASAsyndrome(MASA) -
768 Val Phe HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
784 Tyr Cys HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
935 Leu Pro HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
941 Pro Leu HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
941 Pro Leu MASAsyndrome(MASA) -
1070 Tyr Cys HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
1194 Ser Leu HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
1194 Ser Leu MASAsyndrome(MASA) -
1224 Ser Leu HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
752 Val Met HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
752 Val Met MASAsyndrome(MASA) -
415 Ala Pro HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
674 Ser Cys MASAsyndrome(MASA) -
770 Asp Asn MASAsyndrome(MASA) -
184 Arg Trp HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
202 Asp Tyr MASAsyndrome(MASA) -
268 Gly Asp MASAsyndrome(MASA) -
335 Trp Cys HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
408 Asn Ile HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
421 Val Asp HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
426 Ala Asp MASAsyndrome(MASA) -
482 Leu Pro MASAsyndrome(MASA) -
497 Cys Tyr HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
542 Ser Pro HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
655 Lys Glu HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
691 Ala Thr HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
741 Met Thr HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
751 Arg Pro HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
37 Ile Asn - -
172 Met Ile - -
184 Arg Gly - -
254 Ala Asp - -
276 Trp Arg - -
313 Leu Pro - -
369 Asn Lys - -
480 Gly Arg - -
635 Trp Cys - -
645 Ile Pro - -
714 Pro Ser - -
754 Trp Arg - -
1036 Trp Leu HydrocephalusduetostenosisoftheaqueductofSylvius(HSAS) -
1080 Leu Gln - -

Linear motifs

ELM instance Name Type Start End Partner
ELMI000293 TRG_ENDOCYTIC_2 TRG 1176 1179 -

Fingerprint

Molecular function

Term Name % Distance from the top of the tree Annotated in L1CAM_HUMAN
GO:0017076 purine nucleotide binding 25.0000 4 no
GO:0032555 purine ribonucleotide binding 25.0000 4 no
GO:0035639 purine ribonucleoside triphosphate binding 25.0000 4 no
GO:0019900 kinase binding 22.5000 4 no
GO:0019901 protein kinase binding 22.5000 5 no
GO:0008046 axon guidance receptor activity 10.0000 4 yes

Biological process

Term Name % Distance from top the of the tree Annotated in L1CAM_HUMAN
GO:0048522 positive regulation of cellular process 70.0000 4 yes
GO:0051128 regulation of cellular component organization 57.5000 4 yes
GO:0060255 regulation of macromolecule metabolic process 57.5000 4 no
GO:0048523 negative regulation of cellular process 57.5000 4 no
GO:0010646 regulation of cell communication 55.0000 4 no
GO:0030030 cell projection organization 52.5000 4 yes
GO:0051171 regulation of nitrogen compound metabolic process 52.5000 4 no
GO:0080090 regulation of primary metabolic process 52.5000 4 no
GO:0009893 positive regulation of metabolic process 47.5000 4 no
GO:0010604 positive regulation of macromolecule metabolic process 47.5000 5 no
GO:0120036 plasma membrane bounded cell projection organization 45.0000 5 yes
GO:0009966 regulation of signal transduction 45.0000 4 no
GO:0022607 cellular component assembly 45.0000 4 no
GO:0051049 regulation of transport 45.0000 4 no
GO:0031323 regulation of cellular metabolic process 42.5000 4 no
GO:0051246 regulation of protein metabolic process 42.5000 5 no
GO:0051173 positive regulation of nitrogen compound metabolic process 40.0000 5 no
GO:0016192 vesicle-mediated transport 40.0000 4 no
GO:0022603 regulation of anatomical structure morphogenesis 37.5000 4 yes
GO:0031175 neuron projection development 37.5000 6 yes
GO:0031344 regulation of cell projection organization 37.5000 5 yes
GO:0045595 regulation of cell differentiation 37.5000 4 yes
GO:0120035 regulation of plasma membrane bounded cell projection organization 37.5000 6 yes
GO:0010468 regulation of gene expression 37.5000 5 no
GO:0031325 positive regulation of cellular metabolic process 35.0000 5 no
GO:0051247 positive regulation of protein metabolic process 35.0000 6 no
GO:0051094 positive regulation of developmental process 32.5000 4 yes
GO:0051130 positive regulation of cellular component organization 32.5000 5 yes
GO:0010647 positive regulation of cell communication 32.5000 5 no
GO:0008104 protein localization 32.5000 4 no
GO:0031399 regulation of protein modification process 32.5000 6 no
GO:0051174 regulation of phosphorus metabolic process 30.0000 5 no
GO:1902531 regulation of intracellular signal transduction 30.0000 5 no
GO:0034330 cell junction organization 30.0000 4 yes
GO:2000026 regulation of multicellular organismal development 30.0000 4 yes
GO:0023056 positive regulation of signaling 30.0000 4 no
GO:0051050 positive regulation of transport 30.0000 4 no
GO:0030155 regulation of cell adhesion 30.0000 4 no
GO:0030334 regulation of cell migration 30.0000 5 no
GO:2000145 regulation of cell motility 30.0000 4 no
GO:0001932 regulation of protein phosphorylation 30.0000 7 no
GO:0019220 regulation of phosphate metabolic process 30.0000 6 no
GO:0042325 regulation of phosphorylation 30.0000 7 no
GO:0042327 positive regulation of phosphorylation 27.5000 8 no
GO:0045937 positive regulation of phosphate metabolic process 27.5000 7 no
GO:0007411 axon guidance 27.5000 8 yes
GO:0031346 positive regulation of cell projection organization 27.5000 6 yes
GO:0051240 positive regulation of multicellular organismal process 27.5000 4 yes
GO:0097485 neuron projection guidance 27.5000 7 yes
GO:0010243 response to organonitrogen compound 27.5000 4 no
GO:0060341 regulation of cellular localization 27.5000 4 no
GO:0071702 organic substance transport 27.5000 4 no
GO:0071310 cellular response to organic substance 27.5000 4 no
GO:0010562 positive regulation of phosphorus metabolic process 27.5000 6 no
GO:0010975 regulation of neuron projection development 25.0000 7 yes
GO:0009889 regulation of biosynthetic process 25.0000 4 no
GO:0010556 regulation of macromolecule biosynthetic process 25.0000 5 no
GO:0048584 positive regulation of response to stimulus 25.0000 4 no
GO:0006897 endocytosis 25.0000 5 no
GO:0044087 regulation of cellular component biogenesis 25.0000 4 no
GO:0030335 positive regulation of cell migration 25.0000 6 no
GO:0040017 positive regulation of locomotion 25.0000 4 no
GO:2000147 positive regulation of cell motility 25.0000 5 no
GO:0042127 regulation of cell population proliferation 25.0000 4 no
GO:0048585 negative regulation of response to stimulus 25.0000 4 no
GO:0001934 positive regulation of protein phosphorylation 25.0000 8 no
GO:0031401 positive regulation of protein modification process 25.0000 7 no
GO:0042981 regulation of apoptotic process 22.5000 6 no
GO:0043067 regulation of programmed cell death 22.5000 5 no
GO:0043408 regulation of MAPK cascade 22.5000 6 no
GO:0045597 positive regulation of cell differentiation 22.5000 5 yes
GO:0051960 regulation of nervous system development 22.5000 5 yes
GO:0060284 regulation of cell development 22.5000 5 yes
GO:0009967 positive regulation of signal transduction 22.5000 5 no
GO:0019219 regulation of nucleobase-containing compound metabolic process 22.5000 5 no
GO:0031326 regulation of cellular biosynthetic process 22.5000 5 no
GO:0043085 positive regulation of catalytic activity 22.5000 4 no
GO:0010628 positive regulation of gene expression 22.5000 6 no
GO:0015031 protein transport 22.5000 4 no
GO:0071705 nitrogen compound transport 22.5000 4 no
GO:0032880 regulation of protein localization 22.5000 5 no
GO:0009892 negative regulation of metabolic process 22.5000 4 no
GO:0009968 negative regulation of signal transduction 22.5000 5 no
GO:0010605 negative regulation of macromolecule metabolic process 22.5000 5 no
GO:0010648 negative regulation of cell communication 22.5000 5 no
GO:0023057 negative regulation of signaling 22.5000 4 no
GO:0051093 negative regulation of developmental process 22.5000 4 no
GO:0051172 negative regulation of nitrogen compound metabolic process 22.5000 5 no
GO:0006996 organelle organization 22.5000 4 no
GO:0010941 regulation of cell death 22.5000 4 no
GO:0001558 regulation of cell growth 20.0000 4 yes
GO:0010720 positive regulation of cell development 20.0000 6 yes
GO:0048638 regulation of developmental growth 20.0000 4 yes
GO:0050767 regulation of neurogenesis 20.0000 6 yes
GO:0050770 regulation of axonogenesis 20.0000 5 yes
GO:0051962 positive regulation of nervous system development 20.0000 5 yes
GO:0050769 positive regulation of neurogenesis 17.5000 6 yes
GO:0045927 positive regulation of growth 15.0000 4 yes
GO:0050808 synapse organization 15.0000 5 yes
GO:0061387 regulation of extent of cell growth 15.0000 5 yes
GO:0030307 positive regulation of cell growth 12.5000 5 yes
GO:0030516 regulation of axon extension 12.5000 5 yes
GO:0048639 positive regulation of developmental growth 12.5000 5 yes
GO:0050772 positive regulation of axonogenesis 12.5000 6 yes
GO:0098742 cell-cell adhesion via plasma-membrane adhesion molecules 12.5000 4 yes
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules 10.0000 5 yes
GO:0045773 positive regulation of axon extension 10.0000 6 yes
GO:0007160 cell-matrix adhesion 7.5000 4 yes
GO:0007399 nervous system development 7.5000 4 yes
GO:0061564 axon development 5.0000 7 yes

Disease

Term Name % Distance from top the of the tree Annotated in L1CAM_HUMAN
DOID:0060246 MASA syndrome 5.0000 6 yes
DOID:10908 hydrocephalus 5.0000 6 yes
DOID:1443 cerebral degeneration 5.0000 5 yes
DOID:2476 hereditary spastic paraplegia 5.0000 5 yes
DOID:331 central nervous system disease 5.0000 3 yes
DOID:607 paraplegia 5.0000 4 yes
DOID:936 brain disease 5.0000 4 yes
DOID:0050686 organ system cancer 5.0000 3 no
DOID:193 reproductive organ cancer 5.0000 4 no

All partners

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
PAXI_HUMAN [view interactions] Low throughput no yes
FAK1_HUMAN [view entry] [view interactions] Low throughput yes yes
CSTN1_HUMAN [view entry] [view interactions] Low throughput yes yes
RANB9_HUMAN [view entry] [view interactions] Low throughput yes yes
NRP1_HUMAN [view entry] [view interactions] Low throughput yes yes
AP2A1_HUMAN [view entry] [view interactions] Low throughput yes yes
NUMB_HUMAN [view entry] [view interactions] Low throughput yes yes
CALX_HUMAN [view entry] [view interactions] Low throughput yes yes
EZRI_HUMAN [view entry] [view interactions] Low throughput yes no
RABX5_HUMAN [view interactions] Low throughput no no
EGFR_HUMAN [view interactions] Low throughput no no
ERBB2_HUMAN [view entry] [view interactions] Low throughput yes no
ERBB3_HUMAN [view interactions] Low throughput no yes
EPHA7_HUMAN [view entry] [view interactions] Low throughput yes no
EPHB1_HUMAN [view interactions] Low throughput no no
EPHB3_HUMAN [view interactions] Low throughput no yes
NCAN_HUMAN [view entry] [view interactions] Low throughput yes no
ITA5_HUMAN [view entry] [view interactions] Low throughput yes no
ITAV_HUMAN [view interactions] Low throughput no yes
CNTN2_HUMAN [view entry] [view interactions] Low throughput yes yes
FGFR1_HUMAN [view interactions] Low throughput no yes
ANK3_HUMAN [view entry] [view interactions] Low throughput yes yes
CSKI1_HUMAN [view entry] [view interactions] High throughput yes yes
NMDZ1_HUMAN [view entry] [view interactions] High throughput yes yes
PRIO_HUMAN [view entry] [view interactions] High throughput yes yes
APBB1_HUMAN [view interactions] High throughput no yes
STX12_HUMAN [view entry] [view interactions] High throughput yes yes
RB11A_HUMAN [view entry] [view interactions] High throughput yes yes
CD9_HUMAN [view entry] [view interactions] High throughput yes no
PEA15_HUMAN [view entry] [view interactions] High throughput yes no
1433Z_HUMAN [view entry] [view interactions] High throughput yes yes
L1CAM_HUMAN [view entry] [view interactions] High throughput yes yes
NRP2_HUMAN [view entry] [view interactions] High throughput yes yes
PLXA1_HUMAN [view entry] [view interactions] High throughput yes yes
PLXB1_HUMAN [view interactions] High throughput no yes
FBX6_HUMAN [view interactions] High throughput no yes
HAX1_HUMAN [view interactions] High throughput no no
NUFP1_HUMAN [view interactions] High throughput no yes
DGUOK_HUMAN [view interactions] High throughput no yes
KTU_HUMAN [view interactions] High throughput no yes
NTRK1_HUMAN [view interactions] High throughput no yes
TRI25_HUMAN [view interactions] High throughput no yes
RNF4_HUMAN [view interactions] High throughput no yes
VIR_HUMAN [view interactions] High throughput no yes
EMC1_HUMAN [view interactions] High throughput no yes
EMC2_HUMAN [view interactions] High throughput no yes
NPC1_HUMAN [view interactions] High throughput no yes
FBX2_HUMAN [view entry] [view interactions] High throughput yes yes
GPM6A_HUMAN [view entry] [view interactions] High throughput yes no
BTNL2_HUMAN [view interactions] High throughput no no
PTC1_HUMAN [view entry] [view interactions] High throughput yes yes
LEG1_HUMAN [view interactions] High throughput no yes
CBLN4_HUMAN [view interactions] High throughput no no
CATE_HUMAN [view interactions] High throughput no no
T106B_HUMAN [view interactions] High throughput no yes
DYN2_HUMAN [view entry] [view interactions] Computational yes yes
CD166_HUMAN [view interactions] Computational no no
CD24_HUMAN [view interactions] Computational no yes
DYN3_HUMAN [view entry] [view interactions] Computational yes no
CNTN1_HUMAN [view entry] [view interactions] Computational yes yes
NCAM2_HUMAN [view entry] [view interactions] Computational yes yes
ITB3_HUMAN [view entry] [view interactions] Computational yes no
DYN1_HUMAN [view entry] [view interactions] Computational yes yes
EPHB2_HUMAN [view entry] [view interactions] Computational yes yes
SH3G2_HUMAN [view entry] [view interactions] Computational yes yes
SRC_HUMAN [view entry] [view interactions] Computational yes no
SHOT1_HUMAN [view interactions] Computational no no
MK01_HUMAN [view entry] [view interactions] Computational yes yes
ANK2_HUMAN [view entry] [view interactions] Computational yes yes