full name
L1 cell adhesion molecule

synonyms
CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1, L1CAM, ENSG00000198910

HGNC
HGNC:6470

Entrez Gene
Gene:3897

ENSEMBL
ENSG00000198910
ENSG00000267951

location
chr: X
start: 153126969
stop: 153151628
strand: -

OMIM
OMIM:308840: L1CAM (X-linked recessive inheritance)
OMIM:303350: CRASH syndrome
OMIM:304100: Corpus callosum, partial agenesis of
OMIM:307000: Hydrocephalus due to aqueductal stenosis
OMIM:307000: Hydrocephalus with Hirschsprung disease
OMIM:307000: Hydrocephalus with congenital idiopathic intestinal pseudoobstruction
OMIM:303350: MASA syndrome

transcripts
NM_001278116.1
NM_000425.4
NM_001143963.2
NM_024003.3

pathways
Axon guidance [NCBI:83065] [KEGG:hsa04360] [NCBI:1270303] [REACTOME:R-HSA-422475] [PUBMED:14682358] [PUBMED:15084255] [PUBMED:11687826] [PUBMED:15818466] [PUBMED:15363605] [PUBMED:12471249] [PUBMED:15630019] [PUBMED:11891122] [PUBMED:15960985] [PUBMED:12677003]
Basigin interactions [NCBI:1269376] [REACTOME:R-HSA-210991] [PUBMED:17700972]
Cell adhesion molecules (CAMs) [NCBI:83069] [KEGG:hsa04514] [PUBMED:15923648] [PUBMED:12500939] [PUBMED:15056568] [PUBMED:14519386] [PUBMED:12234363] [PUBMED:10964748] [PUBMED:15071551] [PUBMED:15551862] [PUBMED:14690046] [PUBMED:9150551] [PUBMED:14519398] [PUBMED:14556710] [PUBMED:11860281] [PUBMED:10664064] [PUBMED:9597126] [PUBMED:11050419] [PUBMED:12367625] [PUBMED:10798271] [PUBMED:16034094] [PUBMED:15115723] [PUBMED:15728677] [PUBMED:11910893] [PUBMED:15561584] [PUBMED:15882774] [PUBMED:12810109]
Cell surface interactions at the vascular wall [NCBI:1269373] [REACTOME:R-HSA-202733] [PUBMED:17525755] [PUBMED:11282294] [PUBMED:10798271] [PUBMED:8578462] [PUBMED:14615387] [PUBMED:16115029]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Hemostasis [NCBI:1269340] [REACTOME:R-HSA-109582]
Interaction between L1 and Ankyrins [NCBI:1270325] [REACTOME:R-HSA-445095] [PUBMED:19356150] [PUBMED:16904324] [PUBMED:20156840] [PUBMED:18839070]
L1CAM interactions [NCBI:1270323] [REACTOME:R-HSA-373760] [PUBMED:9211984] [PUBMED:18760361] [PUBMED:14709786] [PUBMED:17189949] [PUBMED:19356150]
Recycling pathway of L1 [NCBI:1270324] [REACTOME:R-HSA-437239] [PUBMED:10804209] [PUBMED:11717353] [PUBMED:14709786]
Signal transduction by L1 [NCBI:1270326] [REACTOME:R-HSA-445144] [PUBMED:15597056] [PUBMED:12721290] [PUBMED:10608864] [PUBMED:17189949] [PUBMED:16597699] [PUBMED:10818153]