Gene Gene information from NCBI Gene database.
Entrez ID 55690
Gene name Phosphofurin acidic cluster sorting protein 1
Gene symbol PACS1
Synonyms (NCBI Gene)
MRD17SHMS
Chromosome 11
Chromosome location 11q13.1-q13.2
Summary 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.
1
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.
585
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607492 30032 ENSG00000175115
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
713
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Likely pathogenic; Pathogenic rs398123009 RCV001255394
Intellectual disability Likely pathogenic; Pathogenic rs2495549778, rs398123009 RCV002463874
RCV001310258
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs398123009 RCV001375021
PACS1-related disorder Likely pathogenic; Pathogenic rs398123009 RCV003398585
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs572697 RCV005889173
Aganglionic megacolon Likely benign rs750459659 RCV000984692
Cervical cancer Benign; Likely benign rs572697, rs79265330 RCV005889174
RCV005901855
Cholangiocarcinoma Benign rs2236652 RCV005922945
Associations from Text MiningDisease 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