Pacs1 MGI Mouse Gene Detail - MGI:1277113 - phosphofurin acidic cluster sorting protein 1

Pacs1 Gene Detail

Symbol

Pacs1
Name

phosphofurin acidic cluster sorting protein 1
Synonyms

MGC:37046

Feature Type

protein coding gene
IDs

MGI:1277113
NCBI Gene: 107975
Gene Overview

MyGene.info: PACS1

Sequence Map

Chr19:5133688-5273119 bp, - strand
From Ensembl annotation of GRCm38

Mouse Genome Browser
Download
Sequence

139432 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 4.25 cM
Mapping Data

1 experiment

Human Ortholog

PACS1, phosphofurin acidic cluster sorting protein 1

Vertebrate Orthologs

10

Human Ortholog

PACS1, phosphofurin acidic cluster sorting protein 1
Orthology source: HomoloGene, HGNC
Synonyms

MRD17, SHMS
Links

HGNC:30032

NCBI Gene ID: 55690

neXtProt AC: NX_Q6VY07

UniProt: Q6VY07
Chr Location

11q13.1-q13.2; chr11:66070276-66244747 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 9970
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: PACS1
Gene Tree

Pacs1

Diseases

1 with human PACS1 associations

				Human Disease	Mouse Models
				autosomal dominant non-syndromic intellectual disability IDs autosomal dominant non-syndromic intellectual disability DOID:0060307 OMIM:156200 OMIM:612337 OMIM:612580 OMIM:612581 OMIM:612621 OMIM:613443 OMIM:613970 OMIM:614104 OMIM:614113 OMIM:614254 OMIM:614255 OMIM:614256 OMIM:614257 OMIM:614563 OMIM:614607 OMIM:614608 OMIM:614609 OMIM:615009 OMIM:615074 OMIM:615075 OMIM:615502 OMIM:615761 OMIM:615828 OMIM:615834 OMIM:615873 ORDO:178469

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

4 phenotype references

All Mutations and Alleles

20
Gene trapped

19
Targeted

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

24 strains or lines available

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All GO Annotations

12
GO References

5

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

70
Tissues

8
cDNA Data

102
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pacs1

ZFIN pacs1a

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Pacs1 interacts with 190 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

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All Sequences

26
RefSeq

2
UniProt

3
CCDS

CCDS29453.1
UniGene

234923

Ensembl

ENSMUSG00000024855 (Evidence)
NCBI Gene

107975

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024855	Ensembl Gene Model \| MGI Sequence Detail	139432	C57BL/6J	± kb
transcript	ENSMUST00000025786	Ensembl \| MGI Sequence Detail	4339	Not Applicable
polypeptide	ENSMUSP00000025786	Ensembl \| MGI Sequence Detail	961	Not Applicable

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SNPs within 2kb

586 from dbSNP Build 142

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UniProt

3 Sequences
Protein Ontology

PR:000012215 phosphofurin acidic cluster sorting protein 1

(term hierarchy)
InterPro Domains

IPR019381 Phosphofurin acidic cluster sorting protein 1

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All nucleic 102

cDNA 102

Microarray probesets 3

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MGI:2147510

Summaries

All 30

Developmental Gene Expression 2

Gene Ontology 5

Phenotypes 4
Earliest

J:48829 Wan L, et al., PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization. Cell. 1998 Jul 24;94(2):205-16
Latest

J:205418 Burgert T, et al., SORLA-dependent and -independent functions for PACS1 in control of amyloidogenic processes. Mol Cell Biol. 2013 Nov;33(21):4308-20

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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