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	5097
Gene name	Protocadherin 1
Gene symbol	PCDH1
Synonyms (NCBI Gene)	PC42PCDH42
Chromosome	5
Chromosome location	5q31.3
Summary	This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The prot

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miRTarBase ID	miRNA	Experiments	Reference
MIRT535463	hsa-miR-495-3p	PAR-CLIP	22012620
MIRT535462	hsa-miR-5688	PAR-CLIP	22012620
MIRT738875	hsa-miR-3199	HITS-CLIP	33718276
MIRT738877	hsa-miR-4697-5p	HITS-CLIP	33718276
MIRT535463	hsa-miR-495-3p	PAR-CLIP	22012620
MIRT535462	hsa-miR-5688	PAR-CLIP	22012620
MIRT1216732	hsa-miR-124	CLIP-seq
MIRT1216733	hsa-miR-146a	CLIP-seq
MIRT1216734	hsa-miR-146b-5p	CLIP-seq
MIRT1216735	hsa-miR-155	CLIP-seq
MIRT1216736	hsa-miR-18a	CLIP-seq
MIRT1216737	hsa-miR-18b	CLIP-seq
MIRT1216738	hsa-miR-3121-3p	CLIP-seq
MIRT1216739	hsa-miR-3123	CLIP-seq
MIRT1216740	hsa-miR-329	CLIP-seq
MIRT1216741	hsa-miR-331-3p	CLIP-seq
MIRT1216742	hsa-miR-362-3p	CLIP-seq
MIRT1216743	hsa-miR-3925-5p	CLIP-seq
MIRT1216744	hsa-miR-3941	CLIP-seq
MIRT1216745	hsa-miR-3976	CLIP-seq
MIRT1216746	hsa-miR-4253	CLIP-seq
MIRT1216747	hsa-miR-4290	CLIP-seq
MIRT1216748	hsa-miR-4685-5p	CLIP-seq
MIRT1216749	hsa-miR-4735-3p	CLIP-seq
MIRT1216750	hsa-miR-4747-5p	CLIP-seq
MIRT1216751	hsa-miR-4761-3p	CLIP-seq
MIRT1216752	hsa-miR-506	CLIP-seq
MIRT1216753	hsa-miR-569	CLIP-seq
MIRT1216754	hsa-miR-603	CLIP-seq
MIRT1216755	hsa-miR-1207-5p	CLIP-seq
MIRT1216756	hsa-miR-1275	CLIP-seq
MIRT1216757	hsa-miR-214	CLIP-seq
MIRT1216758	hsa-miR-3619-5p	CLIP-seq
MIRT1216759	hsa-miR-3940-5p	CLIP-seq
MIRT738876	hsa-miR-4488	CLIP-seq
MIRT1216760	hsa-miR-4507	CLIP-seq
MIRT1216761	hsa-miR-4530	CLIP-seq
MIRT1216762	hsa-miR-4665-5p	CLIP-seq
MIRT1216763	hsa-miR-4763-3p	CLIP-seq
MIRT1216764	hsa-miR-634	CLIP-seq
MIRT1216765	hsa-miR-761	CLIP-seq
MIRT738874	hsa-miR-3186-5p	CLIP-seq
MIRT738876	hsa-miR-4488	CLIP-seq
MIRT1216743	hsa-miR-3925-5p	CLIP-seq
MIRT2291000	hsa-miR-217	CLIP-seq
MIRT2291001	hsa-miR-4514	CLIP-seq
MIRT2291002	hsa-miR-4640-5p	CLIP-seq
MIRT2291003	hsa-miR-4692	CLIP-seq
MIRT2291004	hsa-miR-4726-5p	CLIP-seq
MIRT2291005	hsa-miR-4736	CLIP-seq
MIRT2291006	hsa-miR-598	CLIP-seq
MIRT738876	hsa-miR-4488	CLIP-seq
MIRT2588628	hsa-miR-2355-5p	CLIP-seq
MIRT2588629	hsa-miR-3157-5p	CLIP-seq
MIRT2588630	hsa-miR-4283	CLIP-seq
MIRT2588631	hsa-miR-4690-3p	CLIP-seq
MIRT2588628	hsa-miR-2355-5p	CLIP-seq
MIRT2588629	hsa-miR-3157-5p	CLIP-seq
MIRT2588630	hsa-miR-4283	CLIP-seq
MIRT2588631	hsa-miR-4690-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8508762
GO:0005911	Component	Cell-cell junction	TAS	8508762
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007267	Process	Cell-cell signaling	TAS	8508762
GO:0007399	Process	Nervous system development	TAS	8508762
GO:0016020	Component	Membrane	IEA
GO:0030054	Component	Cell junction	IDA
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
603626	8655	ENSG00000156453

Q08174

Protein name

Protocadherin-1 (Cadherin-like protein 1) (Protocadherin-42) (PC42)

Protein function

May be involved in cell-cell interaction processes and in cell adhesion.

PDB

6BX7 , 6MGA , 6PIM , 6VFP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08266	Cadherin_2	59 → 142	Cadherin-like	Domain
PF00028	Cadherin	173 → 271	Cadherin domain	Domain
PF00028	Cadherin	285 → 378	Cadherin domain	Domain
PF00028	Cadherin	401 → 497	Cadherin domain	Domain
PF00028	Cadherin	511 → 603	Cadherin domain	Domain
PF00028	Cadherin	617 → 706	Cadherin domain	Domain
PF00028	Cadherin	727 → 813	Cadherin domain	Domain
PF08374	Protocadherin	815 → 1029	Protocadherin	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the brain and neuro-glial cells.

Sequence

MDSGAGGRRCPEAALLILGPPRMEHLRHSPGPGGQRLLLPSMLLALLLLLAPSPGHATRV
VYKVPEEQPPNTLIGSLAADYGFPDVGHLYKLEVGAPYLRVDGKTGDIFTTETSIDREGL
RECQNQLPGDPCILEFEVSITDLVQNGSPRLLEGQIEVQDINDNTPNFASPVITLAIPEN
TNIGSLFPIPLASDRDAGPNGVASYELQAGPEAQELFGLQVAEDQEEKQPQLIVMGNLDR
ERWDSYDLTIKVQDGGSPPRASSALLRVTVLDTNDNAPKFERPSYEAELSENSPIGHSVI
QVKANDSDQGANAEIEYTFHQAPEVVRRLLRLDRNTGLITVQGPVDREDLSTLRFSVLAK
DRGTNPKSARAQVVVTVKDMNDNAPTIEIRGIGLVTHQDGMANISEDVAEETAVALVQVS
DRDEGENAAVTCVVAGDVPFQLRQASETGSDSKKKYFLQTTTPLDYEKVKDYTIEIVAVD
SGNPPLSSTNSLKVQVVDVNDNAPVFTQSVTEVAFPENNKPGEVIAEITASDADSGSNAE
LVYSLEPEPAAKGLFTISPETGEIQVKTSLDREQRESYELKVVAADRGSPSLQGTATVLV
NVLDCNDNDPKFMLSGYNFSVMENMPALSPVGMVTVIDGDKGENAQVQLSVEQDNGDFVI
QNGTGTILSSLSFDREQQSTYTFQLKAVDGGVPPRSAYVGVTINVLDENDNAPYITAPSN
TSHKLLTPQTRLGETVSQVAAEDFDSGVNAELIYSIAGGNPYGLFQIGSHSGAITLEKEI
ERRHHGLHRLVVKVSDRGKPPRYGTALVHLYVNETLANRTLLETLLGHSLDTPLDIDIAG
DPEYERSKQRGNILFGVVAGVVAVALLIALAVLVRYCRQREAKSGYQAGKKETKDLYAPK
PSGKASKGNKSKGKKSKSPKPVKPVEDEDEAGLQKSLKFNLMSDAPGDSPRIHLPLNYPP
GSPDLGRHYRSNSPLPSIQLQPQSPSASKKHQVVQDLPPANTFVGTGDTTSTGSEQYSDY
SYRTNPPKYPSKQVGQPFQLSTPQPLPHPYHGAIWTEVWE

Sequence length

1060

Interactions

View interactions

	KEGG
	Virion - Lassa virus and SFTS virus

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs1753000062	RCV001172297	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	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
OCULAR HYPOTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27846146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21929597, 23050600, 23988763, 26209277, 26227965, 27701444, 30464266, 30510870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23988763, 26209277, 27701444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	19729670, 23988763, 26227965, 30510870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35864095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	23050600, 30510870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	26227965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	26227965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	23988763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	23988763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	29409727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	21929597, 23988763, 30510870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35864095	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	9182820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37957639	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34326372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PCDH1 (protocadherin 1)