Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56147
Gene name Gene Name - the full gene name approved by the HGNC.
Protocadherin alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PCDHA1
Synonyms (NCBI Gene) Gene synonyms aliases
PCDH-ALPHA1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT053667 hsa-miR-181a-5p Microarray 22942087
MIRT053706 hsa-miR-221-3p Microarray 22942087
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005576 Component Extracellular region IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0007155 Process Cell adhesion IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606307 8663 ENSG00000204970
Protein
UniProt ID Q9Y5I3
Protein name Protocadherin alpha-1 (PCDH-alpha-1)
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 30 112 Cadherin-like Domain
PF00028 Cadherin 138 233 Cadherin domain Domain
PF00028 Cadherin 247 341 Cadherin domain Domain
PF00028 Cadherin 356 446 Cadherin domain Domain
PF00028 Cadherin 460 556 Cadherin domain Domain
PF00028 Cadherin 577 670 Cadherin domain Domain
PF15974 Cadherin_tail 800 933 Cadherin C-terminal cytoplasmic tail, catenin-binding region Family
Sequence
MVFSRRGGLGARDLLLWLLLLAAWEVGSGQLHYSIPEEAKHGTFVGRVAQDLGLELAELV
PRLFRVASKTHRDLLEVNLQNGILFVNSRIDREELCQWSAECSIHLELIADR
PLQVFHVE
VKVKDINDNPPVFRGREQIIFIPESRLLNSRFPIEGAADADIGANALLTYTLSPSDYFSL
DVEASDELSKSLWLELRKYLDREETPELHLLLTATDGGKPELQGTVELLITVL
DVNDNAP
LFDQAVYRVHLLETTANGTLVTTLNASDADEGVNGEVVFSFDSGISRDIQEKFKVDSSSG
EIRLIDKLDYEETKSYEIQVKAVDKGSPPMSNHCKVLVKVL
DVNDNAPELAVTSLYLPIR
EDAPLSTVIALITVSDRDSGANGQVTCSLMPHVPFKLVSTFKNYYSLVLDSALDRESLSV
YELVVTARDGGSPSLWATARVSVEVA
DVNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAR
DADAQENALVSYSLVERRVGERALSNYVSVHAESGKVYALQPLDHEELELLQFQVSARDA
GVPPLGSNVTLQVFVL
DENDNAPALLAPRVGGTIGAVSELVPRLVGAGHVVAKVRAVDAD
SGYNAWLSYELQPAAGGARIPFRVGLYTGEISTTRVLDEADLSRYRLLVLVKDHGEPALT
ATATVLVSLV
ESGQAPKASSRASVGVAGPEAALVDVNVYLIIAICAVSSLLVLTLLLYTA
LRCSVPPTEGAYVPGKPTLVCSSALGSWSNSQQRRQRVCSSEGPPKTDLMAFSPGLSPSL
NTSERNEQPEANLDLSGNPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP
TVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIR
QEPTNSQIDKSDFITFGKKEETKKKKKKKKGNK
TQEKKEKGNSTTDNSDQ
Sequence length 950
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 24185611
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 29942085, 27479909 ClinVar
Schizophrenia Schizophrenia GWAS
Mental Depression Mental Depression GWAS
Bipolar Disorder Bipolar Disorder GWAS
Associations from Text Mining
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 34948243
Myopia Associate 36036911
Neoplasms Associate 24185611
Prostatic Neoplasms Associate 24185611
Stomach Neoplasms Associate 36970058