Pacc1 MGI Mouse Gene Detail - MGI:1914200 - proton activated chloride channel 1

Symbol

Pacc1
Name

proton activated chloride channel 1
Synonyms

2310028N02Rik, Tmem206

Feature Type

protein coding gene
IDs

MGI:1914200
NCBI Gene: 66950
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr1:191058109-191083111 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 96.28 cM
Mapping Data

2 experiments

SNPs within 2kb

804 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914200	protein coding gene	Chr1:191058099-191083481 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016943	protein coding gene	Chr1:198360593-198386722 (+)
A/J	MGP_AJ_G0016922	protein coding gene	Chr1:190230133-190255146 (+)
AKR/J	MGP_AKRJ_G0016887	protein coding gene	Chr1:195881031-195905946 (+)
BALB/cJ	MGP_BALBcJ_G0016880	protein coding gene	Chr1:190909100-190935465 (+)
C3H/HeJ	MGP_C3HHeJ_G0016704	protein coding gene	Chr1:196718416-196743736 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017343	protein coding gene	Chr1:204680694-204705480 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015050	protein coding gene	Chr1:181128259-181152793 (+)
CAST/EiJ	MGP_CASTEiJ_G0016287	protein coding gene	Chr1:196322543-196346833 (+)
CBA/J	MGP_CBAJ_G0016678	protein coding gene	Chr1:212267877-212292840 (+)
DBA/2J	MGP_DBA2J_G0016784	protein coding gene	Chr1:188957749-188982878 (+)
FVB/NJ	MGP_FVBNJ_G0016780	protein coding gene	Chr1:187080221-187107014 (+)
LP/J	MGP_LPJ_G0016859	protein coding gene	Chr1:199546185-199571229 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016812	protein coding gene	Chr1:218968321-218994092 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017380	protein coding gene	Chr1:195745209-195770200 (+)
PWK/PhJ	MGP_PWKPhJ_G0016074	protein coding gene	Chr1:188242710-188268275 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015850	protein coding gene	Chr1:194759389-194786256 (+)
WSB/EiJ	MGP_WSBEiJ_G0016349	protein coding gene	Chr1:195971459-195996393 (+)

Human Ortholog

PACC1, proton activated chloride channel 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PACC1, proton activated chloride channel 1
Synonyms

ASOR, C1orf75, hPAC, hTMEM206, PAC, PAORAC, TMEM206
Links

HGNC:25593

NCBI Gene ID: 55248

neXtProt AC: NX_Q9H813

UniProt: Q9H813
Chr Location

1q32.3; chr1:212363928-212414901 (-) GRCh38

MGI Vertebrate Homology

Pacc1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PACC1
Gene Tree

Pacc1

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
9 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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Endonuclease-mediated

10
Gene trapped

1
Targeted

1
Incidental Mutations

APF
Find Mice (IMSR)

25 strains or lines available

Mice homozygous for a knock-out allele show absence of proton-activated Cl^- (PAC) currents and decreased sensitivity to acid-induced cell death in primary cortical neurons, and decreased susceptibility to ischemic brain injury.

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All GO Annotations

9
GO References

5

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

707
Tissues

1
cDNA Data

67
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pacc1

ZFIN pacc1

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All Sequences

40
RefSeq

2
UniProt

2
CCDS

CCDS15619.1

Ensembl

ENSMUSG00000026627 (Evidence)
NCBI Gene

66950

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026627	Ensembl Gene Model \| MGI Sequence Detail	25003	C57BL/6J	± kb
transcript	ENSMUST00000027940	Ensembl \| MGI Sequence Detail	2246	Not Applicable
polypeptide	ENSMUSP00000027940	Ensembl \| MGI Sequence Detail	350	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000030981 proton-activated chloride channel

(term hierarchy)
InterPro Domains

IPR029366 TMEM206 protein
GlyGen

Q9D771 4 sites, 4 N-linked glycans (4 sites)

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All nucleic 67

cDNA 67

Microarray probesets 8

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MGI:2138161, MGI:6294480

Summaries

All 34

Developmental Gene Expression 1

Gene Ontology 5

Phenotypes 9
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:340914 Zeziulia M, et al., Proton-gated anion transport governs macropinosome shrinkage. Nat Cell Biol. 2022 Jun;24(6):885-895

TSS for Pacc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr10768	Chr1:191058116-191058181 (+)	40 bp
Tssr10769	Chr1:191058182-191058195 (+)	80 bp
Tssr10770	Chr1:191060341-191060383 (+)	2,253 bp
Tssr10771	Chr1:191064292-191064317 (+)	6,196 bp
Tssr10772	Chr1:191071650-191071659 (+)	13,546 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, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24