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 Hydrocephalus,congenital,X-linked(HYCX) -
121 Gly Ser Hydrocephalus,congenital,X-linked(HYCX) -
179 Ile Ser Hydrocephalus,congenital,X-linked(HYCX) -
179 Ile Ser MASAsyndrome(MASA) -
184 Arg Gln Hydrocephalus,congenital,X-linked(HYCX) -
194 Tyr Cys Hydrocephalus,congenital,X-linked(HYCX) -
210 His Gln MASAsyndrome(MASA) -
219 Ile Thr Hydrocephalus,congenital,X-linked(HYCX) -
240 Pro Leu Agenesisofthecorpuscallosum,X-linked,partial(ACCPX) -
240 Pro Leu Hydrocephalus,congenital,X-linked(HYCX) -
264 Cys Tyr Hydrocephalus,congenital,X-linked(HYCX) -
309 Glu Lys MASAsyndrome(MASA) -
335 Trp Arg Hydrocephalus,congenital,X-linked(HYCX) -
335 Trp Arg MASAsyndrome(MASA) -
370 Gly Arg Hydrocephalus,congenital,X-linked(HYCX) -
370 Gly Arg MASAsyndrome(MASA) -
386 Arg Cys Hydrocephalus,congenital,X-linked(HYCX) -
452 Gly Arg Hydrocephalus,congenital,X-linked(HYCX) -
473 Arg Cys Hydrocephalus,congenital,X-linked(HYCX) -
473 Arg Cys MASAsyndrome(MASA) -
598 Asp Asn MASAsyndrome(MASA) -
632 Arg Pro MASAsyndrome(MASA) -
691 Ala Asp MASAsyndrome(MASA) -
698 Gly Arg Hydrocephalus,congenital,X-linked(HYCX) -
698 Gly Arg MASAsyndrome(MASA) -
768 Val Phe Hydrocephalus,congenital,X-linked(HYCX) -
784 Tyr Cys Hydrocephalus,congenital,X-linked(HYCX) -
935 Leu Pro Hydrocephalus,congenital,X-linked(HYCX) -
941 Pro Leu Hydrocephalus,congenital,X-linked(HYCX) -
941 Pro Leu MASAsyndrome(MASA) -
1070 Tyr Cys Hydrocephalus,congenital,X-linked(HYCX) -
1194 Ser Leu Hydrocephalus,congenital,X-linked(HYCX) -
1194 Ser Leu MASAsyndrome(MASA) -
1224 Ser Leu Hydrocephalus,congenital,X-linked(HYCX) -
752 Val Met Hydrocephalus,congenital,X-linked(HYCX) -
752 Val Met MASAsyndrome(MASA) -
415 Ala Pro Hydrocephalus,congenital,X-linked(HYCX) -
674 Ser Cys MASAsyndrome(MASA) -
770 Asp Asn MASAsyndrome(MASA) -
184 Arg Trp Hydrocephalus,congenital,X-linked(HYCX) -
202 Asp Tyr MASAsyndrome(MASA) -
268 Gly Asp MASAsyndrome(MASA) -
335 Trp Cys Hydrocephalus,congenital,X-linked(HYCX) -
408 Asn Ile Hydrocephalus,congenital,X-linked(HYCX) -
421 Val Asp Hydrocephalus,congenital,X-linked(HYCX) -
426 Ala Asp MASAsyndrome(MASA) -
482 Leu Pro MASAsyndrome(MASA) -
497 Cys Tyr Hydrocephalus,congenital,X-linked(HYCX) -
542 Ser Pro Hydrocephalus,congenital,X-linked(HYCX) -
655 Lys Glu Hydrocephalus,congenital,X-linked(HYCX) -
691 Ala Thr Hydrocephalus,congenital,X-linked(HYCX) -
741 Met Thr Hydrocephalus,congenital,X-linked(HYCX) -
751 Arg Pro Hydrocephalus,congenital,X-linked(HYCX) -
1036 Trp Leu Hydrocephalus,congenital,X-linked(HYCX) -

Linear motifs

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

Fingerprint

Molecular function

Term Name % Distance from the top of the tree Annotated in L1CAM_HUMAN
GO:0043169 cation binding 25.0000 4 no
GO:0046872 metal ion binding 25.0000 5 no
GO:0008046 axon guidance receptor activity 8.3333 4 yes

Biological process

Term Name % Distance from top the of the tree Annotated in L1CAM_HUMAN
GO:0048522 positive regulation of cellular process 69.4444 4 yes
GO:0048523 negative regulation of cellular process 55.5556 4 no
GO:0051128 regulation of cellular component organization 52.7778 4 yes
GO:0030030 cell projection organization 50.0000 4 yes
GO:0010646 regulation of cell communication 50.0000 4 no
GO:0022607 cellular component assembly 47.2222 4 no
GO:0060255 regulation of macromolecule metabolic process 47.2222 4 no
GO:0031323 regulation of cellular metabolic process 41.6667 4 no
GO:0080090 regulation of primary metabolic process 41.6667 4 no
GO:0120036 plasma membrane bounded cell projection organization 38.8889 5 yes
GO:0009966 regulation of signal transduction 38.8889 4 no
GO:0009893 positive regulation of metabolic process 38.8889 4 no
GO:0010604 positive regulation of macromolecule metabolic process 38.8889 5 no
GO:0051049 regulation of transport 38.8889 4 no
GO:0031344 regulation of cell projection organization 36.1111 5 yes
GO:0051094 positive regulation of developmental process 36.1111 4 yes
GO:0120035 regulation of plasma membrane bounded cell projection organization 36.1111 6 yes
GO:2000026 regulation of multicellular organismal development 36.1111 4 yes
GO:0031325 positive regulation of cellular metabolic process 36.1111 5 no
GO:0008104 protein localization 36.1111 4 no
GO:0031175 neuron projection development 33.3333 6 yes
GO:0045595 regulation of cell differentiation 33.3333 4 yes
GO:0051240 positive regulation of multicellular organismal process 33.3333 4 yes
GO:0022603 regulation of anatomical structure morphogenesis 30.5556 4 yes
GO:0042127 regulation of cell population proliferation 30.5556 4 no
GO:0009889 regulation of biosynthetic process 30.5556 4 no
GO:0010556 regulation of macromolecule biosynthetic process 30.5556 5 no
GO:0031326 regulation of cellular biosynthetic process 30.5556 5 no
GO:0034330 cell junction organization 27.7778 4 yes
GO:0045597 positive regulation of cell differentiation 27.7778 5 yes
GO:0051130 positive regulation of cellular component organization 27.7778 5 yes
GO:0010647 positive regulation of cell communication 27.7778 5 no
GO:0030155 regulation of cell adhesion 27.7778 4 no
GO:0030334 regulation of cell migration 27.7778 5 no
GO:1902531 regulation of intracellular signal transduction 27.7778 5 no
GO:2000145 regulation of cell motility 27.7778 4 no
GO:0042981 regulation of apoptotic process 27.7778 5 no
GO:0043067 regulation of programmed cell death 27.7778 4 no
GO:0051246 regulation of protein metabolic process 27.7778 5 no
GO:0010468 regulation of gene expression 27.7778 6 no
GO:0060341 regulation of cellular localization 27.7778 4 no
GO:0007411 axon guidance 25.0000 8 yes
GO:0010975 regulation of neuron projection development 25.0000 7 yes
GO:0031346 positive regulation of cell projection organization 25.0000 6 yes
GO:0051960 regulation of nervous system development 25.0000 5 yes
GO:0060284 regulation of cell development 25.0000 5 yes
GO:0097485 neuron projection guidance 25.0000 7 yes
GO:0023056 positive regulation of signaling 25.0000 4 no
GO:0051247 positive regulation of protein metabolic process 25.0000 6 no
GO:0032880 regulation of protein localization 25.0000 5 no
GO:0050767 regulation of neurogenesis 22.2222 6 yes
GO:0051962 positive regulation of nervous system development 22.2222 5 yes
GO:0009967 positive regulation of signal transduction 22.2222 5 no
GO:0048584 positive regulation of response to stimulus 22.2222 4 no
GO:0031399 regulation of protein modification process 22.2222 6 no
GO:0048585 negative regulation of response to stimulus 22.2222 4 no
GO:0051241 negative regulation of multicellular organismal process 22.2222 4 no
GO:0006355 regulation of DNA-templated transcription 22.2222 7 no
GO:0019219 regulation of nucleobase-containing compound metabolic process 22.2222 5 no
GO:0051050 positive regulation of transport 22.2222 4 no
GO:0051252 regulation of RNA metabolic process 22.2222 5 no
GO:2001141 regulation of RNA biosynthetic process 22.2222 6 no
GO:0071702 organic substance transport 22.2222 4 no
GO:0010720 positive regulation of cell development 19.4444 6 yes
GO:0048638 regulation of developmental growth 19.4444 4 yes
GO:0050769 positive regulation of neurogenesis 19.4444 6 yes
GO:0001558 regulation of cell growth 16.6667 4 yes
GO:0045927 positive regulation of growth 16.6667 4 yes
GO:0050770 regulation of axonogenesis 16.6667 5 yes
GO:0050808 synapse organization 16.6667 5 yes
GO:0048639 positive regulation of developmental growth 13.8889 5 yes
GO:0050772 positive regulation of axonogenesis 13.8889 6 yes
GO:0098742 cell-cell adhesion via plasma-membrane adhesion molecules 13.8889 4 yes
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules 11.1111 5 yes
GO:0030307 positive regulation of cell growth 11.1111 5 yes
GO:0061387 regulation of extent of cell growth 11.1111 5 yes
GO:0007160 cell-matrix adhesion 8.3333 4 yes
GO:0030516 regulation of axon extension 8.3333 5 yes
GO:0045773 positive regulation of axon extension 8.3333 6 yes
GO:0007399 nervous system development 5.5556 4 yes
GO:0061564 axon development 5.5556 7 yes

Disease

No data found.

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 entry] [view interactions] Low throughput yes yes
ANK3_HUMAN [view entry] [view interactions] Low throughput yes yes
CSKI1_HUMAN [view entry] [view interactions] High throughput yes yes
NPC1_HUMAN [view interactions] High throughput no yes
NMDZ1_HUMAN [view entry] [view interactions] High throughput yes yes
PRIO_HUMAN [view entry] [view interactions] High throughput yes yes
APBB1_HUMAN [view entry] [view interactions] High throughput yes 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
CAC1C_HUMAN [view entry] [view interactions] High throughput yes no
HCN1_HUMAN [view entry] [view interactions] High throughput yes yes
ANK2_HUMAN [view entry] [view interactions] High throughput yes yes
DYR1A_HUMAN [view interactions] High throughput no yes
ITM2B_HUMAN [view interactions] High throughput no yes
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 entry] [view interactions] High throughput yes 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
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
TRI67_HUMAN [view interactions] High throughput no no
TOP3B_HUMAN [view interactions] High throughput no no
T106B_HUMAN [view interactions] High throughput no yes
TGON2_HUMAN [view entry] [view interactions] High throughput yes yes