PCDHAC1 (protocadherin alpha subfamily C, 1)

Gene

• Entrez ID: 56135
• Gene name: Protocadherin alpha subfamily C, 1
• Gene symbol: PCDHAC1
• Synonyms (NCBI Gene): PCDH-ALPHA-C1
• Chromosome: 5
• Chromosome location: 5q31.3
• Summary: This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha ge

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053665	hsa-miR-181a-5p	Microarray	22942087
MIRT053714	hsa-miR-221-3p	Microarray	22942087
MIRT1216988	hsa-miR-1271	CLIP-seq
MIRT1216989	hsa-miR-302a	CLIP-seq
MIRT1216990	hsa-miR-302b	CLIP-seq
MIRT1216991	hsa-miR-302c	CLIP-seq
MIRT1216992	hsa-miR-302d	CLIP-seq
MIRT1216993	hsa-miR-302e	CLIP-seq
MIRT1216994	hsa-miR-3653	CLIP-seq
MIRT1216995	hsa-miR-372	CLIP-seq
MIRT1216996	hsa-miR-373	CLIP-seq
MIRT1216997	hsa-miR-4639-5p	CLIP-seq
MIRT1216998	hsa-miR-520a-3p	CLIP-seq
MIRT1216999	hsa-miR-520b	CLIP-seq
MIRT1217000	hsa-miR-520c-3p	CLIP-seq
MIRT1217001	hsa-miR-520d-3p	CLIP-seq
MIRT1217002	hsa-miR-520e	CLIP-seq
MIRT1217003	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10380929
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	10380929
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	10380929
GO:0016020	Component	Membrane	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA

Other IDs

• MIM: 606320
• HGNC: 8676
• e!Ensembl: ENSG00000248383

Protein

• UniProt ID: Q9H158
• Protein name: Protocadherin alpha-C1 (PCDH-alpha-C1)
• Protein function: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08266	Cadherin_2	21 → 103	Cadherin-like	Domain
  PF00028	Cadherin	129 → 224	Cadherin domain	Domain
  PF00028	Cadherin	238 → 331	Cadherin domain	Domain
  PF00028	Cadherin	346 → 436	Cadherin domain	Domain
  PF00028	Cadherin	450 → 546	Cadherin domain	Domain
  PF00028	Cadherin	568 → 657	Cadherin domain	Domain
  PF16492	Cadherin_C_2	680 → 771	Cadherin cytoplasmic C-terminal	Family
  PF15974	Cadherin_tail	813 → 946	Cadherin C-terminal cytoplasmic tail, catenin-binding region	Family

• Sequence:

  MVGCGVAVLCLWVSCGAAAGQLEYSVPEETERGVAVGNLSADLRLPAAAMSSRNFRFLSS
  HRELYFGVDLPSGNLVVREPADREQLCRAKAACVLTYDLVLEDPLELHKIRIHVLDTNDN
  SPLFPAGDVQLHIPEFLTPGARFTLPNAQDDDEGSNGILSYSLSPSQHFRLDMGSRVDGS
  EYPELVLEKALDREQRATHLLVLTARDGGLPARSGDAQVTIIVVDTNDNAPVFERSVYRT
  KVPETAPNGTVLFRVQALDPDEGSNGEVQYSLSNSTQAELRHRFHVHPKSGEVQVAASLG
  PPETLLEAYIEARDEGVFGLASTAKLLVEVTDVNDHAPELDFLTLSNPVPEDAAPGTVIA
  LFSVKDEDLDSNGRVICGMSSAGPFQLTASFDNYYSLLIDGPLDREQISEYQVLITASDS
  GSPPLSTRRTITVSVADVNDNTPNFPQPQQELFVAENNGPGASLGRVFAQDPDLGKNGLV
  SYELLDVISEGPSASSLLAVESSSGAITAKTSFDFEQLRGFHFQVEGRDGGIPPRSATVT
  INLFVVDRNDNYPVILFPLPRNGSVPVEIVPRSARTGHLVTKVVAEDADSGSNAWLSYHI
  SRASDSSLFRISANIGELRTARLVLPTDAVKQRVVVVVRDHGDPPLSSSVTLGVLLSNSV
  PQLLPDFEDVWEPGGQLSAQNLYLVIALACISFLFLGCLLFFVCTKLHQSPGCCAQSCCR
  STEDLRYGSKMVSNPCMTSATIDVTTVERLSQTYLYRASLGLGSDNNSLLLRGEYNAADL
  RNLATGVGLNLPISCIQIRNRKGDHANVNAMPRQPNPDWRYSASLRAGMHSSVHLEEAGI
  LRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDK
  FIIPGSPAIISIRQEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDN
  SDQ

• Sequence length: 963

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
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Autistic Disorder	Associate	23031252	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	22610075	★☆☆☆☆ Found in Text Mining only