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Gene id 55690
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol PACS1   Gene   UCSC   Ensembl
Aliases MRD17, SHMS
Gene name phosphofurin acidic cluster sorting protein 1
Alternate names phosphofurin acidic cluster sorting protein 1, PACS-1, cytosolic sorting protein PACS-1,
Gene location 11q13.1-q13.2 (705831: 770979)     Exons: 12     NC_000004.12
Gene summary(Entrez) 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
OMIM 607492

Protein Summary

Protein general information Q6VY07  

Name: Phosphofurin acidic cluster sorting protein 1 (PACS 1)

Length: 963  Mass: 104898

Sequence MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSSTSAAAASSSSSSTSTS
MAVAVASGSAPPGGPGPGRTPAPVQMNLYATWEVDRSSSSCVPRLFSLTLKKLVMLKEMDKDLNSVVIAVKLQGS
KRILRSNEIVLPASGLVETELQLTFSLQYPHFLKRDANKLQIMLQRRKRYKNRTILGYKTLAVGLINMAEVMQHP
NEGALVLGLHSNVKDVSVPVAEIKIYSLSSQPIDHEGIKSKLSDRSPDIDNYSEEEEESFSSEQEGSDDPLHGQD
LFYEDEDLRKVKKTRRKLTSTSAITRQPNIKQKFVALLKRFKVSDEVGFGLEHVSREQIREVEEDLDELYDSLEM
YNPSDSGPEMEETESILSTPKPKLKPFFEGMSQSSSQTEIGSLNSKGSLGKDTTSPMELAALEKIKSTWIKNQDD
SLTETDTLEITDQDMFGDASTSLVVPEKVKTPMKSSKTDLQGSASPSKVEGVHTPRQKRSTPLKERQLSKPLSER
TNSSDSERSPDLGHSTQIPRKVVYDQLNQILVSDAALPENVILVNTTDWQGQYVAELLQDQRKPVVCTCSTVEVQ
AVLSALLTRIQRYCNCNSSMPRPVKVAAVGGQSYLSSILRFFVKSLANKTSDWLGYMRFLIIPLGSHPVAKYLGS
VDSKYSSSFLDSGWRDLFSRSEPPVSEQLDVAGRVMQYVNGAATTHQLPVAEAMLTCRHKFPDEDSYQKFIPFIG
VVKVGLVEDSPSTAGDGDDSPVVSLTVPSTSPPSSSGLSRDATATPPSSPSMSSALAIVGSPNSPYGDVIGLQVD
YWLGHPGERRREGDKRDASSKNTLKSVFRSVQVSRLPHSGEAQLSGTMAMTVVTKEKNKKVPTIFLSKKPREKEV
DSKSQVIEGISRLICSAKQQQTMLRVSIDGVEWSDIKFFQLAAQWPTHVKHFPVGLFSGSKAT
Structural information
Interpro:  IPR019381  
MINT:  
STRING:   ENSP00000316454
Other Databases GeneCards:  PACS1  Malacards:  PACS1

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0072659 protein localization to p
lasma membrane
IBA biological process
GO:0044325 ion channel binding
IBA molecular function
GO:0005794 Golgi apparatus
IEA cellular component
GO:0016032 viral process
IEA biological process
GO:0050690 regulation of defense res
ponse to virus by virus
TAS biological process
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005829 cytosol
TAS cellular component
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0034067 protein localization to G
olgi apparatus
IEA biological process
GO:0030137 COPI-coated vesicle
IEA cellular component
GO:0044325 ion channel binding
IPI molecular function
GO:0072659 protein localization to p
lasma membrane
IMP biological process
GO:0005794 Golgi apparatus
IEA cellular component
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
Associated diseases References
Autosomal dominant mental retardation KEGG:H00773
Autosomal dominant mental retardation KEGG:H00773
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract