• Gene id: 55248

Gene Summary

• Gene Symbol: PACC1   Gene   UCSC   Ensembl
• Aliases: ASOR, C1orf75, PAC, PAORAC, TMEM206, hPAC, hTMEM206
• Gene name: proton activated chloride channel 1
• Alternate names: proton-activated chloride channel, acid-sensitive outwardly-rectifying anion channel, proton-activated outwardly rectifying anion channel, transmembrane protein 206,
• Gene location: 1q32.3 (212414900: 212363927)     Exons: 18     NC_000001.11
• OMIM: 618427

Protein Summary

• Protein general information: Q9H813  
  • Name: Proton activated chloride channel (PAC) (hPAC) (Acid sensitive outwardly rectifying anion channel) (ASOR) (Proton activated outwardly rectifying anion channel) (PAORAC) (Transmembrane protein 206) (hTMEM206)
  • Length: 350  
  • Mass: 40043
  • Tissue specificity: Widely expressed, with highest expression in brain. {ECO
• Sequence:

  MIRQERSTSYQELSEELVQVVENSELADEQDKETVRVQGPGILPGLDSESASSSIRFSKACLKNVFSVLLIFIYL
  LLMAVAVFLVYRTITDFREKLKHPVMSVSYKEVDRYDAPGIALYPGQAQLLSCKHHYEVIPPLTSPGQPGDMNCT
  TQRINYTDPFSNQTVKSALIVQGPREVKKRELVFLQFRLNKSSEDFSAIDYLLFSSFQEFLQSPNRVGFMQACES
  AYSSWKFSGGFRTWVKMSLVKTKEEDGREAVEFRQETSVVNYIDQRPAAKKSAQLFFVVFEWKDPFIQKVQDIVT
  ANPWNTIALLCGAFLALFKAAEFAKLSIKWMIKIRKRYLKRRGQATSHIS

• Structural information:
  • Interpro: IPR029366  
• Other Databases: GeneCards:  PACC1  Malacards:  PACC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006821	chloride transport	IDA	biological process
GO:0061797	pH-gated chloride channel activity	IDA	molecular function
GO:0006821	chloride transport	IDA	biological process
GO:0061797	pH-gated chloride channel activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0034707	chloride channel complex	IEA	cellular component
GO:0006821	chloride transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061797	pH-gated chloride channel activity	IEA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0009986	cell surface	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq