Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10752
Gene name	Cell adhesion molecule L1 like
Gene symbol	CHL1
Synonyms (NCBI Gene)	CALLL1CAM2
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

Show/Hide all (83)

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

Show/Hide all (21)

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

MIM	HGNC	e!Ensembl
607416	1939	ENSG00000134121

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

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CHL1-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs162734, rs143272020, rs2470324142, rs199513859, rs2272522, rs144055818, rs779243871, rs558397339, rs142000301, rs370418721, rs199822757, rs73817633, rs147811720, rs73105057, rs139673243 View all (10 more)	RCV003984243 RCV003926582 RCV003397379 RCV003974146 RCV003979604 RCV003903985 RCV003967313 RCV003937287 RCV003981819 RCV003976983 RCV003902491 RCV003960811 RCV003906037 RCV003906017 RCV003920749 RCV003940384 RCV003975550 RCV003895402 RCV003968329 RCV003912917 RCV003923215 RCV003923243 RCV003970548 RCV003970625 RCV003935817
Seizure	Uncertain significance	rs1247101959	RCV001262903

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Inhibit	21408220
Autistic Disorder	Associate	22016809
Bipolar Disorder	Associate	30178121
Breast Neoplasms	Associate	28178655, 32775417, 37268731
Carcinogenesis	Associate	31523184
Carcinoma Non Small Cell Lung	Associate	34718336
Carcinoma Renal Cell	Inhibit	21408220
Carcinoma Squamous Cell	Inhibit	21408220
Colorectal Neoplasms	Associate	27111221
Depressive Disorder Major	Associate	35468096
Diabetic Foot	Associate	38041124
Fanconi Anemia	Associate	22895051
Glioblastoma	Associate	38019838
Hereditary Breast and Ovarian Cancer Syndrome	Inhibit	21408220
Intellectual Disability	Associate	21457564
Kidney Neoplasms	Inhibit	21408220
Learning Disabilities	Associate	21457564
Lung Diseases	Inhibit	21408220
Monosomy	Associate	25223409
Nasopharyngeal Carcinoma	Associate	31523184
Neoplasm Metastasis	Associate	24597767
Neoplasm Metastasis	Inhibit	31523184
Neoplasms	Associate	15020404, 24597767, 28402723
Neoplasms	Inhibit	28178655, 31523184, 33326488
Neoplasms	Stimulate	34718336
Neuroblastoma	Associate	28402723, 33326488
Non alcoholic Fatty Liver Disease	Associate	37753698
Psoriasis	Associate	37753698
Triple Negative Breast Neoplasms	Associate	30786922
Uveal melanoma	Associate	24597767

CHL1 (cell adhesion molecule L1 like)