Official symbol | L1CAM |
Gene id | 3897 |
Organism | Homo sapiens |
Official full symbol | L1 cell adhesion molecule |
Gene type | protein-coding |
Also known as | CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1 |
Summary | The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. |
Genomic regions | Chromosome X |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
L1CAM-205 | ENST00000370060.7 | 5138 | 1257aa | Protein coding | CCDS14733 | P32004-1 | NM_001278116.2 | TSL:5, GENCODE basic, APPRIS P3, MANE Select v0.92, |
L1CAM-202 | ENST00000361981.7 | 5004 | 1248aa | Protein coding | CCDS48192 | P32004-3 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
L1CAM-203 | ENST00000370055.5 | 4655 | 1248aa | Protein coding | CCDS48192 | P32004-3 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
L1CAM-201 | ENST00000361699.8 | 3888 | 1253aa | Protein coding | CCDS14734 | P32004-2 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
L1CAM-204 | ENST00000370058.7 | 692 | 153aa | Protein coding | - | H3BLW5 | - | CDS 5' incomplete, TSL:3, |
L1CAM-208 | ENST00000439496.5 | 655 | 150aa | Protein coding | - | E7EPI4 | - | CDS 3' incomplete, TSL:4, |
L1CAM-210 | ENST00000458029.1 | 637 | 83aa | Protein coding | - | E9PHJ4 | - | CDS 3' incomplete, TSL:4, |
L1CAM-206 | ENST00000407935.6 | 576 | 128aa | Protein coding | - | E7EVM4 | - | CDS 3' incomplete, TSL:3, |
L1CAM-209 | ENST00000455590.1 | 570 | 190aa | Protein coding | - | H0Y5C3 | - | CDS 5' and 3' incomplete, TSL:4, |
L1CAM-207 | ENST00000420165.5 | 569 | 90aa | Protein coding | - | E7EMY4 | - | CDS 3' incomplete, TSL:4, |
L1CAM-216 | ENST00000616195.1 | 740 | No protein | Processed transcript | - | - | - | TSL:2, |
L1CAM-214 | ENST00000491983.1 | 608 | No protein | Retained intron | - | - | - | TSL:3, |
L1CAM-212 | ENST00000474853.1 | 568 | No protein | Retained intron | - | - | - | TSL:2, |
L1CAM-215 | ENST00000496122.1 | 561 | No protein | Retained intron | - | - | - | TSL:4, |
L1CAM-211 | ENST00000460553.1 | 556 | No protein | Retained intron | - | - | - | TSL:4, |
L1CAM-213 | ENST00000484652.1 | 551 | No protein | Retained intron | - | - | - | TSL:4, |
Target Gene | L1CAM |
This KO Strategy | loading |
Red Cotton™ Notes | Gene L1CAM had been KO in hela cell line. |
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