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

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
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr19:5133685-5273119 bp, - strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 4.25 cM
Mapping Data

1 experiment

SNPs within 2kb

586 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1277113	protein coding gene	Chr19:5133158-5273119 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024695	protein coding gene	Chr19:2068302-2224508 (-)
A/J	MGP_AJ_G0024661	protein coding gene	Chr19:1960693-2101357 (-)
AKR/J	MGP_AKRJ_G0024634	protein coding gene	Chr19:2010323-2165782 (-)
BALB/cJ	MGP_BALBcJ_G0024661	protein coding gene	Chr19:1958458-2101865 (-)
C3H/HeJ	MGP_C3HHeJ_G0024429	protein coding gene	Chr19:2011627-2169598 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025108	protein coding gene	Chr19:2122143-2278523 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022538	protein coding gene	Chr19:1886467-2013462 (-)
CAST/EiJ	MGP_CASTEiJ_G0023901	protein coding gene	Chr19:2042414-2192237 (-)
CBA/J	MGP_CBAJ_G0024401	protein coding gene	Chr19:2207863-2375208 (-)
DBA/2J	MGP_DBA2J_G0024528	protein coding gene	Chr19:1944300-2084720 (-)
FVB/NJ	MGP_FVBNJ_G0024495	protein coding gene	Chr19:1946135-2089042 (-)
LP/J	MGP_LPJ_G0024614	protein coding gene	Chr19:2059257-2203095 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024525	protein coding gene	Chr19:2082660-2234682 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025156	protein coding gene	Chr19:2012317-2165935 (-)
PWK/PhJ	MGP_PWKPhJ_G0023647	protein coding gene	Chr19:1982207-2122976 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023452	protein coding gene	Chr19:2002306-2154604 (-)
WSB/EiJ	MGP_WSBEiJ_G0023963	protein coding gene	Chr19:2023435-2179260 (-)

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
				Schuurs-Hoeijmakers Syndrome IDs Schuurs-Hoeijmakers Syndrome DOID:0070047 OMIM:615009

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

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

22
Endonuclease-mediated

2
Gene trapped

19
Targeted

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

6 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

10
GO References

5

External Resources

FuncBase

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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

701
Tissues

8
cDNA Data

103
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

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

58
RefSeq

6
UniProt

5
CCDS

CCDS29453.1
UniGene

234923

Ensembl

ENSMUSG00000024855 (Evidence)
NCBI Gene

107975

			Length	Strain/Species	Flank
genomic	107975	NCBI Gene Model \| MGI Sequence Detail	139435	C57BL/6J	± kb
transcript	NM_153129	RefSeq \| MGI Sequence Detail	4360	C57BL/6
polypeptide	Q8K212	UniProt \| EBI \| MGI Sequence Detail	961	Not Applicable

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UniProt

5 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 103

cDNA 103

Microarray probesets 3

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MGI:2147510

Summaries

All 34

Developmental Gene Expression 2

Gene Ontology 5

Phenotypes 7
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

TSS for Pacs1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr157564	Chr19:5273265-5273290 (-)	-159 bp
Tssr157563	Chr19:5273080-5273129 (-)	14 bp
Tssr157562	Chr19:5273068-5273079 (-)	45 bp
Tssr157561	Chr19:5273007-5273037 (-)	97 bp
Tssr157560	Chr19:5272982-5273000 (-)	128 bp
Tssr157559	Chr19:5272892-5272901 (-)	222 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/06/2021 MGI 6.16