Pacs1 phosphofurin acidic cluster sorting protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pacs1provided by MGI
Official Full Name: phosphofurin acidic cluster sorting protein 1provided by MGI
Primary source: MGI:MGI:1277113
See related: Ensembl:ENSMUSG00000024855 AllianceGenome:MGI:1277113
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable transmembrane transporter binding activity. Acts upstream of or within protein localization to Golgi apparatus. Located in COPI-coated vesicle. Is expressed in nervous system. Human ortholog(s) of this gene implicated in Schuurs-Hoeijmakers Syndrome. Orthologous to human PACS1 (phosphofurin acidic cluster sorting protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 76.2), ovary adult (RPKM 27.0) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19; 19 A

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (5183710..5323327, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (5133685..5273119, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Calcium flux control by Pacs1-Wdr37 promotes lymphocyte quiescence and lymphoproliferative diseases.
Title: Calcium flux control by Pacs1-Wdr37 promotes lymphocyte quiescence and lymphoproliferative diseases.
the roles of the phosphofurin acidic cluster sorting protein - 1 (PACS-1) and the clathrin adaptor protein 1 (AP-1) in the targeting of Pro-opiomelanocortin to dense core secretory granules.
Title: PACS-1 and adaptor protein-1 mediate ACTH trafficking to the regulated secretory pathway.
casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia
Title: Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI576331 (e-PCR)
- UniSTS:248615

NoName (e-PCR)
- UniSTS:237872

RH12046 (e-PCR)
- UniSTS:40348

D19Dcr3 (e-PCR), detects polymorphism
- UniSTS:507555

AI325977 (e-PCR)
- UniSTS:166119

Homology

Homologs of the Pacs1 gene: The Pacs1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 244 organisms have orthologs with human gene Pacs1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in lymphocyte homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein binding	ISO Inferred from Sequence Orthology more info
involved_in protein localization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in COPI-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: phosphofurin acidic cluster sorting protein 1

Names: cytosolic sorting protein PACS-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001362451.3 → NP_001349380.1 phosphofurin acidic cluster sorting protein 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC125059

Conserved Domains (1) summary

pfam10254
Location:473 → 885

Pacs-1; PACS-1 cytosolic sorting protein
NM_001403566.1 → NP_001390495.1 phosphofurin acidic cluster sorting protein 1 isoform 4

Status: VALIDATED

Source sequence(s)

AC125059
NM_001403567.1 → NP_001390496.1 phosphofurin acidic cluster sorting protein 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC125059
NM_001403568.1 → NP_001390497.1 phosphofurin acidic cluster sorting protein 1 isoform 5

Status: VALIDATED

Source sequence(s)

AC125059
NM_001403569.1 → NP_001390498.1 phosphofurin acidic cluster sorting protein 1 isoform 6

Status: VALIDATED

Source sequence(s)

AC125059
NM_001403570.1 → NP_001390499.1 phosphofurin acidic cluster sorting protein 1 isoform 7

Status: VALIDATED

Source sequence(s)

AC125059
NM_153129.4 → NP_694769.2 phosphofurin acidic cluster sorting protein 1 isoform 1

See identical proteins and their annotated locations for NP_694769.2

Status: VALIDATED

Source sequence(s)

AC125059

Consensus CDS

CCDS29453.1

UniProtKB/Swiss-Prot

Q6P5H8, Q8K212

UniProtKB/TrEMBL

A0A8C6MQN8

Related

ENSMUSP00000025786.8, ENSMUST00000025786.9

Conserved Domains (1) summary

pfam10254
Location:546 → 958

Pacs-1; PACS-1 cytosolic sorting protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

5183710..5323327 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161394.1 → XP_036017287.1 phosphofurin acidic cluster sorting protein 1 isoform X1

Conserved Domains (1) summary

pfam10254
Location:551 → 963

Pacs-1; PACS-1 cytosolic sorting protein