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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	157807
Gene name	Clavesin 1
Gene symbol	CLVS1
Synonyms (NCBI Gene)	C6orf212LCRALBPLRLBP1L1
Chromosome	8
Chromosome location	8q12.2-q12.3

136

Show/Hide all (136)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024833	hsa-miR-215-5p	Microarray	19074876
MIRT026360	hsa-miR-192-5p	Microarray	19074876
MIRT898307	hsa-miR-4764-3p	CLIP-seq
MIRT898308	hsa-miR-582-5p	CLIP-seq
MIRT898309	hsa-miR-618	CLIP-seq
MIRT1966365	hsa-miR-4459	CLIP-seq
MIRT2202233	hsa-miR-1206	CLIP-seq
MIRT2202234	hsa-miR-4666-3p	CLIP-seq
MIRT2202235	hsa-miR-4722-5p	CLIP-seq
MIRT2202236	hsa-miR-518a-5p	CLIP-seq
MIRT2202237	hsa-miR-522	CLIP-seq
MIRT2202238	hsa-miR-527	CLIP-seq
MIRT2202239	hsa-miR-802	CLIP-seq
MIRT2386234	hsa-miR-1205	CLIP-seq
MIRT2386235	hsa-miR-1909	CLIP-seq
MIRT2386236	hsa-miR-4418	CLIP-seq
MIRT2386237	hsa-miR-4433	CLIP-seq
MIRT1966365	hsa-miR-4459	CLIP-seq
MIRT2386238	hsa-miR-4704-3p	CLIP-seq
MIRT2386239	hsa-miR-4768-3p	CLIP-seq
MIRT2386240	hsa-miR-509-3-5p	CLIP-seq
MIRT2386241	hsa-miR-509-5p	CLIP-seq
MIRT2447246	hsa-miR-1179	CLIP-seq
MIRT2447247	hsa-miR-1244	CLIP-seq
MIRT2447248	hsa-miR-1246	CLIP-seq
MIRT2447249	hsa-miR-1272	CLIP-seq
MIRT2447250	hsa-miR-1322	CLIP-seq
MIRT2447251	hsa-miR-188-3p	CLIP-seq
MIRT2447252	hsa-miR-2110	CLIP-seq
MIRT2447253	hsa-miR-2964a-5p	CLIP-seq
MIRT2447254	hsa-miR-3144-5p	CLIP-seq
MIRT2447255	hsa-miR-3145-5p	CLIP-seq
MIRT2447256	hsa-miR-3150a-3p	CLIP-seq
MIRT2447257	hsa-miR-3163	CLIP-seq
MIRT2447258	hsa-miR-3191	CLIP-seq
MIRT2447259	hsa-miR-323b-3p	CLIP-seq
MIRT2447260	hsa-miR-3662	CLIP-seq
MIRT2447261	hsa-miR-3713	CLIP-seq
MIRT2447262	hsa-miR-3920	CLIP-seq
MIRT2447263	hsa-miR-3942-5p	CLIP-seq
MIRT2447264	hsa-miR-4259	CLIP-seq
MIRT2447265	hsa-miR-4652-5p	CLIP-seq
MIRT2447266	hsa-miR-4694-3p	CLIP-seq
MIRT2447267	hsa-miR-4703-3p	CLIP-seq
MIRT2447268	hsa-miR-4703-5p	CLIP-seq
MIRT2447269	hsa-miR-4715-5p	CLIP-seq
MIRT2447270	hsa-miR-4733-5p	CLIP-seq
MIRT2447271	hsa-miR-487a	CLIP-seq
MIRT2447272	hsa-miR-643	CLIP-seq
MIRT2447273	hsa-miR-654-3p	CLIP-seq
MIRT2447246	hsa-miR-1179	CLIP-seq
MIRT2202233	hsa-miR-1206	CLIP-seq
MIRT2447248	hsa-miR-1246	CLIP-seq
MIRT2447249	hsa-miR-1272	CLIP-seq
MIRT2505153	hsa-miR-1290	CLIP-seq
MIRT2447250	hsa-miR-1322	CLIP-seq
MIRT2505154	hsa-miR-153	CLIP-seq
MIRT2505155	hsa-miR-181a	CLIP-seq
MIRT2505156	hsa-miR-181b	CLIP-seq
MIRT2505157	hsa-miR-181c	CLIP-seq
MIRT2505158	hsa-miR-181d	CLIP-seq
MIRT2447251	hsa-miR-188-3p	CLIP-seq
MIRT2505159	hsa-miR-25	CLIP-seq
MIRT2447253	hsa-miR-2964a-5p	CLIP-seq
MIRT2505160	hsa-miR-3143	CLIP-seq
MIRT2447255	hsa-miR-3145-5p	CLIP-seq
MIRT2447257	hsa-miR-3163	CLIP-seq
MIRT2505161	hsa-miR-3167	CLIP-seq
MIRT2505162	hsa-miR-32	CLIP-seq
MIRT2447259	hsa-miR-323b-3p	CLIP-seq
MIRT2505163	hsa-miR-3614-5p	CLIP-seq
MIRT2505164	hsa-miR-363	CLIP-seq
MIRT2447260	hsa-miR-3662	CLIP-seq
MIRT2505165	hsa-miR-367	CLIP-seq
MIRT2447261	hsa-miR-3713	CLIP-seq
MIRT2505166	hsa-miR-3924	CLIP-seq
MIRT2447263	hsa-miR-3942-5p	CLIP-seq
MIRT2505167	hsa-miR-4262	CLIP-seq
MIRT2505168	hsa-miR-4263	CLIP-seq
MIRT2505169	hsa-miR-4452	CLIP-seq
MIRT2505170	hsa-miR-448	CLIP-seq
MIRT2505171	hsa-miR-4643	CLIP-seq
MIRT2505172	hsa-miR-466	CLIP-seq
MIRT2202234	hsa-miR-4666-3p	CLIP-seq
MIRT2447266	hsa-miR-4694-3p	CLIP-seq
MIRT2447268	hsa-miR-4703-5p	CLIP-seq
MIRT2447270	hsa-miR-4733-5p	CLIP-seq
MIRT2505173	hsa-miR-4735-5p	CLIP-seq
MIRT2505174	hsa-miR-4760-3p	CLIP-seq
MIRT2505175	hsa-miR-4789-3p	CLIP-seq
MIRT2447271	hsa-miR-487a	CLIP-seq
MIRT2505176	hsa-miR-543	CLIP-seq
MIRT2505177	hsa-miR-576-5p	CLIP-seq
MIRT2447272	hsa-miR-643	CLIP-seq
MIRT2505178	hsa-miR-653	CLIP-seq
MIRT2447273	hsa-miR-654-3p	CLIP-seq
MIRT2505179	hsa-miR-659	CLIP-seq
MIRT2505180	hsa-miR-668	CLIP-seq
MIRT2202239	hsa-miR-802	CLIP-seq
MIRT2505181	hsa-miR-876-5p	CLIP-seq
MIRT2505182	hsa-miR-92a	CLIP-seq
MIRT2505183	hsa-miR-92b	CLIP-seq
MIRT2447246	hsa-miR-1179	CLIP-seq
MIRT2202233	hsa-miR-1206	CLIP-seq
MIRT2505154	hsa-miR-153	CLIP-seq
MIRT2505155	hsa-miR-181a	CLIP-seq
MIRT2505156	hsa-miR-181b	CLIP-seq
MIRT2505157	hsa-miR-181c	CLIP-seq
MIRT2505158	hsa-miR-181d	CLIP-seq
MIRT2447251	hsa-miR-188-3p	CLIP-seq
MIRT2505159	hsa-miR-25	CLIP-seq
MIRT2505160	hsa-miR-3143	CLIP-seq
MIRT2447255	hsa-miR-3145-5p	CLIP-seq
MIRT2505162	hsa-miR-32	CLIP-seq
MIRT2447259	hsa-miR-323b-3p	CLIP-seq
MIRT2505163	hsa-miR-3614-5p	CLIP-seq
MIRT2505164	hsa-miR-363	CLIP-seq
MIRT2505165	hsa-miR-367	CLIP-seq
MIRT2447261	hsa-miR-3713	CLIP-seq
MIRT2505166	hsa-miR-3924	CLIP-seq
MIRT2505167	hsa-miR-4262	CLIP-seq
MIRT2505169	hsa-miR-4452	CLIP-seq
MIRT2505170	hsa-miR-448	CLIP-seq
MIRT2505171	hsa-miR-4643	CLIP-seq
MIRT2505172	hsa-miR-466	CLIP-seq
MIRT2202234	hsa-miR-4666-3p	CLIP-seq
MIRT2447270	hsa-miR-4733-5p	CLIP-seq
MIRT2505175	hsa-miR-4789-3p	CLIP-seq
MIRT2505176	hsa-miR-543	CLIP-seq
MIRT2447272	hsa-miR-643	CLIP-seq
MIRT2505178	hsa-miR-653	CLIP-seq
MIRT2505179	hsa-miR-659	CLIP-seq
MIRT2505180	hsa-miR-668	CLIP-seq
MIRT2202239	hsa-miR-802	CLIP-seq
MIRT2505182	hsa-miR-92a	CLIP-seq
MIRT2505183	hsa-miR-92b	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IDA	19651769
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005802	Component	Trans-Golgi network	ISS
GO:0007040	Process	Lysosome organization	IBA
GO:0007040	Process	Lysosome organization	IEA
GO:0007040	Process	Lysosome organization	ISS
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0030136	Component	Clathrin-coated vesicle	IBA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030136	Component	Clathrin-coated vesicle	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	19651769
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IEA
GO:1902936	Function	Phosphatidylinositol bisphosphate binding	IBA

MIM	HGNC	e!Ensembl
611292	23139	ENSG00000177182

Q8IUQ0

Protein name

Clavesin-1 (Cellular retinaldehyde-binding protein-like) (Retinaldehyde-binding protein 1-like 1) (clathrin vesicle-associated Sec14 protein 1)

Protein function

Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03765	CRAL_TRIO_N	23 → 96	CRAL/TRIO, N-terminal domain	Domain
PF00650	CRAL_TRIO	120 → 274	CRAL/TRIO domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed mainly in the brain. {ECO:0000269|PubMed:16802092}.

Sequence

MGPVSLLPKYQKLNTWNGDLAKMTHLQAGLSPETIEKARLELNENPDVLHQDIQQVRDMI
ITRPDIGFLRTDDAFILRFLRARKFHQADAFRLLAQYFQYRQLNLDMFKNFKADDPGIKR
ALIDGFPGVLENRDHYGRKILLLFAANWDQSRNSFTDILRAILLSLEVLIEDPELQINGF
ILIIDWSNFSFKQASKLTPSILKLAIEGLQDSFPARFGGVHFVNQPWYIHALYTLIKPFL
KDKTRKRIFLHGNNLNSLHQLIHPEFLPSEFGGTLPPYDMGTWARTLLGPDYSDENDYTH
TSYNAMHVKHTSSNLERECSPKLMKRSQSVVEAGTLKHEEKGENENTQPLLALD

Sequence length

354

Interactions

View interactions

	Reactome
			Lysosome Vesicle Biogenesis

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)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GWASCAT_DG	24529757	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	GWASCAT_DG	24529757	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	29594489	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18271718	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18271718	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASDB_DG	23793025	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASCAT_DG	23793025	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	18271718	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30149091	★★★★★ ★☆☆☆☆ Found in Text Mining only

CLVS1 (clavesin 1)