• Gene id: 10752

Gene Summary

• Gene Symbol: CHL1   Gene   UCSC   Ensembl
• Aliases: CALL, L1CAM2
• Gene name: cell adhesion molecule L1 like
• Alternate names: neural cell adhesion molecule L1-like protein, L1 cell adhesion molecule 2, cell adhesion molecule with homology to L1CAM (close homolog of L1), cell adhesion molecule with homology to L1CAM (close homologue of L1), close homolog of L1,
• Gene location: 3p26.3 (43066970: 43065186)     Exons: 6     NC_000005.10
• Gene summary(Entrez): 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 me
• OMIM: 607416

Protein Summary

• Protein general information: O00533  
  • Name: Neural cell adhesion molecule L1 like protein (Close homolog of L1) [Cleaved into: Processed neural cell adhesion molecule L1 like protein]
  • Length: 1208  
  • Mass: 135071
  • Tissue specificity: Expressed in the fetal and adult brain as well as in Schwann cell culture. Also detected in adult peripheral tissues. {ECO
• Sequence:

  MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAKGNPEPTFSWTKDGNP
  FYFTDHRIIPSNNSGTFRIPNEGHISHFQGKYRCFASNKLGIAMSEEIEFIVPSVPKFPKEKIDPLEVEEGDPIV
  LPCNPPKGLPPLHIYWMNIELEHIEQDERVYMSQKGDLYFANVEEKDSRNDYCCFAAFPRLRTIVQKMPMKLTVN
  SSNSIKQRKPKLLLPPTESGSESSITILKGEILLLECFAEGLPTPQVDWNKIGGDLPKGRETKENYGKTLKIENV
  SYQDKGNYRCTASNFLGTATHDFHVIVEEPPRWTKKPQSAVYSTGSNGILLCEAEGEPQPTIKWRVNGSPVDNHP
  FAGDVVFPREISFTNLQPNHTAVYQCEASNVHGTILANANIDVVDVRPLIQTKDGENYATVVGYSAFLHCEFFAS
  PEAVVSWQKVEEVKPLEGRRYHIYENGTLQINRTTEEDAGSYSCWVENAIGKTAVTANLDIRNATKLRVSPKNPR
  IPKLHMLELHCESKCDSHLKHSLKLSWSKDGEAFEINGTEDGRIIIDGANLTISNVTLEDQGIYCCSAHTALDSA
  ADITQVTVLDVPDPPENLHLSERQNRSVRLTWEAGADHNSNISEYIVEFEGNKEEPGRWEELTRVQGKKTTVILP
  LAPFVRYQFRVIAVNEVGRSQPSQPSDHHETPPAAPDRNPQNIRVQASQPKEMIIKWEPLKSMEQNGPGLEYRVT
  WKPQGAPVEWEEETVTNHTLRVMTPAVYAPYDVKVQAINQLGSGPDPQSVTLYSGEDYPDTAPVIHGVDVINSTL
  VKVTWSTVPKDRVHGRLKGYQINWWKTKSLLDGRTHPKEVNILRFSGQRNSGMVPSLDAFSEFHLTVLAYNSKGA
  GPESEPYIFQTPEGVPEQPTFLKVIKVDKDTATLSWGLPKKLNGNLTGYLLQYQIINDTYEIGELNDINITTPSK
  PSWHLSNLNATTKYKFYLRACTSQGCGKPITEESSTLGEGSKGIGKISGVNLTQKTHPIEVFEPGAEHIVRLMTK
  NWGDNDSIFQDVIETRGREYAGLYDDISTQGWFIGLMCAIALLTLLLLTVCFVKRNRGGKYSVKEKEDLHPDPEI
  QSVKDETFGEYSDSDEKPLKGSLRSLNRDMQPTESADSLVEYGEGDHGLFSEDGSFIGAYAGSKEKGSVESNGSS
  TATFPLRA

• Structural information:
  • Protein Domains: (35..12-)
    1 (/note="Ig-like-C2-type)
    (128..22-)
    2 (/note="Ig-like-C2-type)
    (235..32-)
    3 (/note="Ig-like-C2-type)
    (331..41-)
    4 (/note="Ig-like-C2-type)
    (423..51-)
    5 (/note="Ig-like-C2-type)
    (515..60-)
    (/note="Ig-lik-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR013151  IPR026966  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • STRING: ENSP00000256509
• Other Databases: GeneCards:  CHL1  Malacards:  CHL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043005	neuron projection	IBA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0050890	cognition	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0035640	exploration behavior	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0002020	protease binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Schizophrenia	PMID:11986985
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R