CHL1
Neural cell adhesion molecule L1-like protein
Also known as: CALL, FLJ44930, L1CAM2, MGC132578, NCHL1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00533
- Gene
- CHL1
- Ensembl
- ENSG00000134121
- Chromosome
- 3
- Canonical length
- 1208 aa
- Protein class
- Plasma proteins, Predicted membrane proteins, Predicted secreted proteins
- Secretome location
- Secreted in brain
OverviewNCBI Gene
The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]
Canonical amino-acid sequenceUniProt
1208 residues, UniProt reviewed canonical sequence.
>O00533|CHL1
1 MEPLLLGRGL IVYLMFLLLK FSKAIEIPSS VQQVPTIIKQ SKVQVAFPFD EYFQIECEAK
61 GNPEPTFSWT KDGNPFYFTD HRIIPSNNSG TFRIPNEGHI SHFQGKYRCF ASNKLGIAMS
121 EEIEFIVPSV PKFPKEKIDP LEVEEGDPIV LPCNPPKGLP PLHIYWMNIE LEHIEQDERV
181 YMSQKGDLYF ANVEEKDSRN DYCCFAAFPR LRTIVQKMPM KLTVNSSNSI KQRKPKLLLP
241 PTESGSESSI TILKGEILLL ECFAEGLPTP QVDWNKIGGD LPKGRETKEN YGKTLKIENV
301 SYQDKGNYRC TASNFLGTAT HDFHVIVEEP PRWTKKPQSA VYSTGSNGIL LCEAEGEPQP
361 TIKWRVNGSP VDNHPFAGDV VFPREISFTN LQPNHTAVYQ CEASNVHGTI LANANIDVVD
421 VRPLIQTKDG ENYATVVGYS AFLHCEFFAS PEAVVSWQKV EEVKPLEGRR YHIYENGTLQ
481 INRTTEEDAG SYSCWVENAI GKTAVTANLD IRNATKLRVS PKNPRIPKLH MLELHCESKC
541 DSHLKHSLKL SWSKDGEAFE INGTEDGRII IDGANLTISN VTLEDQGIYC CSAHTALDSA
601 ADITQVTVLD VPDPPENLHL SERQNRSVRL TWEAGADHNS NISEYIVEFE GNKEEPGRWE
661 ELTRVQGKKT TVILPLAPFV RYQFRVIAVN EVGRSQPSQP SDHHETPPAA PDRNPQNIRV
721 QASQPKEMII KWEPLKSMEQ NGPGLEYRVT WKPQGAPVEW EEETVTNHTL RVMTPAVYAP
781 YDVKVQAINQ LGSGPDPQSV TLYSGEDYPD TAPVIHGVDV INSTLVKVTW STVPKDRVHG
841 RLKGYQINWW KTKSLLDGRT HPKEVNILRF SGQRNSGMVP SLDAFSEFHL TVLAYNSKGA
901 GPESEPYIFQ TPEGVPEQPT FLKVIKVDKD TATLSWGLPK KLNGNLTGYL LQYQIINDTY
961 EIGELNDINI TTPSKPSWHL SNLNATTKYK FYLRACTSQG CGKPITEESS TLGEGSKGIG
1021 KISGVNLTQK THPIEVFEPG AEHIVRLMTK NWGDNDSIFQ DVIETRGREY AGLYDDISTQ
1081 GWFIGLMCAI ALLTLLLLTV CFVKRNRGGK YSVKEKEDLH PDPEIQSVKD ETFGEYSDSD
1141 EKPLKGSLRS LNRDMQPTES ADSLVEYGEG DHGLFSEDGS FIGAYAGSKE KGSVESNGSS
1201 TATFPLRALocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 63 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 63 nTPM
- ovary: 32 nTPM
- hypothalamus: 23 nTPM
- basal ganglia: 21 nTPM
- hippocampal formation: 18 nTPM
- amygdala: 18 nTPM
Single-cell type
- bergmann glia: 1,191 nCPM
- oligodendrocyte progenitor cells: 993 nCPM
- schwann cells: 768 nCPM
- other brain neurons: 553 nCPM
- astrocytes: 382 nCPM
- brain excitatory neurons: 357 nCPM
Immune cell
- naive B-cell: 3.8 nTPM
- memory B-cell: 2.8 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebral cortex: 164 nTPM
- basal ganglia: 159 nTPM
- hypothalamus: 149 nTPM
- hippocampal formation: 135 nTPM
- spinal cord: 109 nTPM
- pons: 105 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.64
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.92
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adult locomotory behavior
- axon guidance
- cell adhesion
- cognition
- exploration behavior
- negative regulation of neuron apoptotic process
- neuron migration
- signal transduction
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Immunoglobulin subtype 2
- Immunoglobulin domain subtype
- Fibronectin type III
- Immunoglobulin-like domain
- Immunoglobulin I-set
- Immunoglobulin-like beta-sandwich domain
- Immunoglobulin-like fold
- Neurofascin/L1/NrCAM, C-terminal domain
- Fibronectin type III superfamily
- Immunoglobulin-like domain superfamily
- Neural and epithelial cell adhesion domain-containing protein
- Fibronectin type III domain
- Immunoglobulin domain
- Immunoglobulin I-set domain
- Bravo-like intracellular region
- Immunoglobulin domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHL1 as an antibody target. Whether an autoantibody or antibody against CHL1 could matter depends on whether native CHL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHL1 is annotated at the cell surface, where native CHL1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CHL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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