Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55690
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphofurin acidic cluster sorting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PACS1
Synonyms (NCBI Gene) Gene synonyms aliases
MRD17, SHMS
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1-q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of fur
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1064795125 G>C Likely-pathogenic Genic downstream transcript variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT044795 hsa-miR-320a CLASH 23622248
MIRT043109 hsa-miR-324-5p CLASH 23622248
MIRT620231 hsa-miR-8485 HITS-CLIP 23824327
MIRT620230 hsa-miR-9-5p HITS-CLIP 23824327
MIRT620229 hsa-miR-7-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002260 Process Lymphocyte homeostasis IEA
GO:0002260 Process Lymphocyte homeostasis ISS
GO:0005515 Function Protein binding IPI 10707087, 16977309, 17855360, 24001769, 32814053, 34642815
GO:0005794 Component Golgi apparatus IEA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607492 30032 ENSG00000175115
Protein
UniProt ID Q6VY07
Protein name Phosphofurin acidic cluster sorting protein 1 (PACS-1)
Protein function Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10254 Pacs-1 548 960 PACS-1 cytosolic sorting protein Family
Sequence
MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSST
SAAAASSSSSSTSTSMAVAVASGSAPPGGPGPGRTPAPVQMNLYATWEVDRSSSSCVPRL
FSLTLKKLVMLKEMDKDLNSVVIAVKLQGSKRILRSNEIVLPASGLVETELQLTFSLQYP
HFLKRDANKLQIMLQRRKRYKNRTILGYKTLAVGLINMAEVMQHPNEGALVLGLHSNVKD
VSVPVAEIKIYSLSSQPIDHEGIKSKLSDRSPDIDNYSEEEEESFSSEQEGSDDPLHGQD
LFYEDEDLRKVKKTRRKLTSTSAITRQPNIKQKFVALLKRFKVSDEVGFGLEHVSREQIR
EVEEDLDELYDSLEMYNPSDSGPEMEETESILSTPKPKLKPFFEGMSQSSSQTEIGSLNS
KGSLGKDTTSPMELAALEKIKSTWIKNQDDSLTETDTLEITDQDMFGDASTSLVVPEKVK
TPMKSSKTDLQGSASPSKVEGVHTPRQKRSTPLKERQLSKPLSERTNSSDSERSPDLGHS
TQIPRKVVYDQLNQILVSDAALPENVILVNTTDWQGQYVAELLQDQRKPVVCTCSTVEVQ
AVLSALLTRIQRYCNCNSSMPRPVKVAAVGGQSYLSSILRFFVKSLANKTSDWLGYMRFL
IIPLGSHPVAKYLGSVDSKYSSSFLDSGWRDLFSRSEPPVSEQLDVAGRVMQYVNGAATT
HQLPVAEAMLTCRHKFPDEDSYQKFIPFIGVVKVGLVEDSPSTAGDGDDSPVVSLTVPST
SPPSSSGLSRDATATPPSSPSMSSALAIVGSPNSPYGDVIGLQVDYWLGHPGERRREGDK
RDASSKNTLKSVFRSVQVSRLPHSGEAQLSGTMAMTVVTKEKNKKVPTIFLSKKPREKEV
DSKSQVIEGISRLICSAKQQQTMLRVSIDGVEWSDIKFFQLAAQWPTHVKHFPVGLFSGS

KAT
Sequence length 963
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nef mediated downregulation of MHC class I complex cell surface expression
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental Delay global developmental delay rs398123009 N/A
Mental retardation intellectual disability rs398123009 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder, Bipolar I disorder N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 34948243
Autistic Disorder Associate 34517877
Cluster Headache Associate 38280846
Developmental Disabilities Associate 34068396, 34517877
Ductus Arteriosus Patent Associate 28111752
Epilepsy Associate 34517877
Facial Dysmorphism with Multiple Malformations Associate 30568311
Intellectual Disability Associate 28111752, 34517877, 38521709
Obesity Associate 23563609, 28564656
Obsessive Compulsive Disorder Associate 28111752