CHL1 (cell adhesion molecule L1 like)

Gene

• Entrez ID: 10752
• Gene name: Cell adhesion molecule L1 like
• Gene symbol: CHL1
• Synonyms (NCBI Gene): CALL, L1CAM2
• Chromosome: 3
• Chromosome location: 3p26.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007021	hsa-miR-10a-5p	Luciferase reporter assay	22634495
MIRT018587	hsa-miR-335-5p	Microarray	18185580
MIRT021831	hsa-miR-132-3p	Microarray	17612493
MIRT025148	hsa-miR-181a-5p	Microarray	17612493
MIRT052932	hsa-miR-590-5p	5.0	24288179
MIRT890180	hsa-miR-125a-5p	CLIP-seq
MIRT890181	hsa-miR-125b	CLIP-seq
MIRT890182	hsa-miR-140-3p	CLIP-seq
MIRT890183	hsa-miR-142-3p	CLIP-seq
MIRT890184	hsa-miR-216a	CLIP-seq
MIRT890185	hsa-miR-224	CLIP-seq
MIRT890186	hsa-miR-3140-5p	CLIP-seq
MIRT890187	hsa-miR-3150b-3p	CLIP-seq
MIRT890188	hsa-miR-3169	CLIP-seq
MIRT890189	hsa-miR-3170	CLIP-seq
MIRT890190	hsa-miR-3185	CLIP-seq
MIRT890191	hsa-miR-330-3p	CLIP-seq
MIRT890192	hsa-miR-338-5p	CLIP-seq
MIRT890193	hsa-miR-340	CLIP-seq
MIRT890194	hsa-miR-342-5p	CLIP-seq
MIRT890195	hsa-miR-3606	CLIP-seq
MIRT890196	hsa-miR-375	CLIP-seq
MIRT890197	hsa-miR-3938	CLIP-seq
MIRT890198	hsa-miR-4273	CLIP-seq
MIRT890199	hsa-miR-4319	CLIP-seq
MIRT890200	hsa-miR-4328	CLIP-seq
MIRT890201	hsa-miR-4422	CLIP-seq
MIRT890202	hsa-miR-4457	CLIP-seq
MIRT890203	hsa-miR-4502	CLIP-seq
MIRT890204	hsa-miR-4515	CLIP-seq
MIRT890205	hsa-miR-4651	CLIP-seq
MIRT890206	hsa-miR-4664-5p	CLIP-seq
MIRT890207	hsa-miR-4668-5p	CLIP-seq
MIRT890208	hsa-miR-4677-5p	CLIP-seq
MIRT890209	hsa-miR-4680-3p	CLIP-seq
MIRT890210	hsa-miR-4709-3p	CLIP-seq
MIRT890211	hsa-miR-4732-3p	CLIP-seq
MIRT890212	hsa-miR-4784	CLIP-seq
MIRT890213	hsa-miR-490-3p	CLIP-seq
MIRT890214	hsa-miR-513b	CLIP-seq
MIRT890215	hsa-miR-548ag	CLIP-seq
MIRT890216	hsa-miR-548ai	CLIP-seq
MIRT890217	hsa-miR-548k	CLIP-seq
MIRT890218	hsa-miR-548m	CLIP-seq
MIRT890219	hsa-miR-548p	CLIP-seq
MIRT890220	hsa-miR-590-3p	CLIP-seq
MIRT890221	hsa-miR-608	CLIP-seq
MIRT890222	hsa-miR-647	CLIP-seq
MIRT890223	hsa-miR-649	CLIP-seq
MIRT890224	hsa-miR-670	CLIP-seq
MIRT890225	hsa-miR-767-5p	CLIP-seq
MIRT890184	hsa-miR-216a	CLIP-seq
MIRT890191	hsa-miR-330-3p	CLIP-seq
MIRT890201	hsa-miR-4422	CLIP-seq
MIRT1963750	hsa-miR-1255a	CLIP-seq
MIRT1963751	hsa-miR-1255b	CLIP-seq
MIRT1963752	hsa-miR-1264	CLIP-seq
MIRT1963753	hsa-miR-1284	CLIP-seq
MIRT1963754	hsa-miR-1299	CLIP-seq
MIRT1963755	hsa-miR-1305	CLIP-seq
MIRT1963756	hsa-miR-181a	CLIP-seq
MIRT1963757	hsa-miR-181b	CLIP-seq
MIRT1963758	hsa-miR-181c	CLIP-seq
MIRT1963759	hsa-miR-181d	CLIP-seq
MIRT1963760	hsa-miR-3150a-5p	CLIP-seq
MIRT1963761	hsa-miR-3150b-5p	CLIP-seq
MIRT1963762	hsa-miR-4262	CLIP-seq
MIRT1963763	hsa-miR-4782-5p	CLIP-seq
MIRT1963764	hsa-miR-4796-5p	CLIP-seq
MIRT1963765	hsa-miR-516b	CLIP-seq
MIRT1963766	hsa-miR-544	CLIP-seq
MIRT2200079	hsa-miR-30a	CLIP-seq
MIRT2200080	hsa-miR-30b	CLIP-seq
MIRT2200081	hsa-miR-30c	CLIP-seq
MIRT2200082	hsa-miR-30d	CLIP-seq
MIRT2200083	hsa-miR-30e	CLIP-seq
MIRT890192	hsa-miR-338-5p	CLIP-seq
MIRT2200084	hsa-miR-380	CLIP-seq
MIRT2200085	hsa-miR-4495	CLIP-seq
MIRT890187	hsa-miR-3150b-3p	CLIP-seq
MIRT890212	hsa-miR-4784	CLIP-seq
MIRT890187	hsa-miR-3150b-3p	CLIP-seq
MIRT890212	hsa-miR-4784	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IEA
GO:0002020	Function	Protease binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	9799093
GO:0007165	Process	Signal transduction	TAS	9799093
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9799093
GO:0030154	Process	Cell differentiation	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0050890	Process	Cognition	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 607416
• HGNC: 1939
• e!Ensembl: ENSG00000134121

Protein

• UniProt ID: O00533
• Protein name: Neural cell adhesion molecule L1-like protein (Close homolog of L1) [Cleaved into: Processed neural cell adhesion molecule L1-like protein]
• Protein function: Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal ce
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13927	Ig_3	35 → 113		Domain
  PF13927	Ig_3	234 → 314		Domain
  PF13927	Ig_3	330 → 405		Domain
  PF07679	I-set	423 → 511	Immunoglobulin I-set domain	Domain
  PF00047	ig	519 → 604	Immunoglobulin domain	Domain
  PF00041	fn3	613 → 698	Fibronectin type III domain	Domain
  PF00041	fn3	713 → 796	Fibronectin type III domain	Domain
  PF00041	fn3	811 → 904	Fibronectin type III domain	Domain
  PF00041	fn3	917 → 1005	Fibronectin type III domain	Domain
  PF13882	Bravo_FIGEY	1104 → 1189	Bravo-like intracellular region	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the fetal and adult brain as well as in Schwann cell culture. Also detected in adult peripheral tissues. {ECO:0000269|PubMed:9799093}.
• Sequence:

  MEPLLLGRGLIVYLMFLLLKFSKAIEIPSSVQQVPTIIKQSKVQVAFPFDEYFQIECEAK
  GNPEPTFSWTKDGNPFYFTDHRIIPSNNSGTFRIPNEGHISHFQGKYRCFASNKLGIAMS
  EEIEFIVPSVPKFPKEKIDPLEVEEGDPIVLPCNPPKGLPPLHIYWMNIELEHIEQDERV
  YMSQKGDLYFANVEEKDSRNDYCCFAAFPRLRTIVQKMPMKLTVNSSNSIKQRKPKLLLP
  PTESGSESSITILKGEILLLECFAEGLPTPQVDWNKIGGDLPKGRETKENYGKTLKIENV
  SYQDKGNYRCTASNFLGTATHDFHVIVEEPPRWTKKPQSAVYSTGSNGILLCEAEGEPQP
  TIKWRVNGSPVDNHPFAGDVVFPREISFTNLQPNHTAVYQCEASNVHGTILANANIDVVD
  VRPLIQTKDGENYATVVGYSAFLHCEFFASPEAVVSWQKVEEVKPLEGRRYHIYENGTLQ
  INRTTEEDAGSYSCWVENAIGKTAVTANLDIRNATKLRVSPKNPRIPKLHMLELHCESKC
  DSHLKHSLKLSWSKDGEAFEINGTEDGRIIIDGANLTISNVTLEDQGIYCCSAHTALDSA
  ADITQVTVLDVPDPPENLHLSERQNRSVRLTWEAGADHNSNISEYIVEFEGNKEEPGRWE
  ELTRVQGKKTTVILPLAPFVRYQFRVIAVNEVGRSQPSQPSDHHETPPAAPDRNPQNIRV
  QASQPKEMIIKWEPLKSMEQNGPGLEYRVTWKPQGAPVEWEEETVTNHTLRVMTPAVYAP
  YDVKVQAINQLGSGPDPQSVTLYSGEDYPDTAPVIHGVDVINSTLVKVTWSTVPKDRVHG
  RLKGYQINWWKTKSLLDGRTHPKEVNILRFSGQRNSGMVPSLDAFSEFHLTVLAYNSKGA
  GPESEPYIFQTPEGVPEQPTFLKVIKVDKDTATLSWGLPKKLNGNLTGYLLQYQIINDTY
  EIGELNDINITTPSKPSWHLSNLNATTKYKFYLRACTSQGCGKPITEESSTLGEGSKGIG
  KISGVNLTQKTHPIEVFEPGAEHIVRLMTKNWGDNDSIFQDVIETRGREYAGLYDDISTQ
  GWFIGLMCAIALLTLLLLTVCFVKRNRGGKYSVKEKEDLHPDPEIQSVKDETFGEYSDSD
  EKPLKGSLRSLNRDMQPTESADSLVEYGEGDHGLFSEDGSFIGAYAGSKEKGSVESNGSS
  TATFPLRA

• Sequence length: 1208

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHL1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME 3	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	21408220, 31372722		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31372722		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	30311656		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	24512353		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30324028		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21332311		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22016809	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	30178121		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30178121	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27998789, 28178655		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28178655, 32775417, 37268731	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31523184	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29568376		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21408220	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21408220	Inhibit	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	12812975		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27111221		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27111221	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25943212		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	35468096	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	38041124	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29391027		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31736153		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23436495		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	22895051	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29089868		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38019838	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29089868		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29089868		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21408220	Inhibit	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	12812975		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12812975, 23436495		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	12812975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	21457564	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	21408220	Inhibit	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	21457564	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30311656		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	21408220	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29775614		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27998789, 28178655		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31736153		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	21408220		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29568376		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21408220, 23508829, 29089868, 29568376		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28178655		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25057921, 29235570		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	12812975		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25943212		★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	12391163		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12812975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22360856		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31523184	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21408220, 24971532, 28178655, 28332309, 28402723, 28448604, 29775614, 31372722		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28402723, 29899830		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28402723, 33326488	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31372722		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24971532		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	22995758		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	12812975		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	37753698	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	21408220		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11986985, 15653271, 21332311, 23857787, 28583411, 28647594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	11986985		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	11986985, 15653271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	31372722		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	21408220		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30786922	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	24597767	Associate	★☆☆☆☆ Found in Text Mining only