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ANO1 anoctamin 1 [ Homo sapiens (human) ]

Gene ID: 55107, updated on 24-May-2020

Summary

Official Symbol
ANO1provided by HGNC
Official Full Name
anoctamin 1provided by HGNC
Primary source
HGNC:HGNC:21625
See related
Ensembl:ENSG00000131620 MIM:610108
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DOG1; TAOS2; ORAOV2; TMEM16A
Expression
Broad expression in skin (RPKM 23.9), salivary gland (RPKM 22.1) and 16 other tissues See more
Orthologs

Genomic context

See ANO1 in Genome Data Viewer
Location:
11q13.3
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (69985907..70189530)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (69924408..70035651)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene FGF4 promoter region Neighboring gene FGF3 5' regulatory region Neighboring gene uncharacterized LOC107984368 Neighboring gene fibroblast growth factor 4 Neighboring gene fibroblast growth factor 3 Neighboring gene uncharacterized LOC105369371 Neighboring gene long intergenic non-protein coding RNA 2753 Neighboring gene RNA, U6 small nuclear 1175, pseudogene Neighboring gene long intergenic non-protein coding RNA 2584 Neighboring gene uncharacterized LOC105369372 Neighboring gene uncharacterized LOC101928473 Neighboring gene Fas associated via death domain Neighboring gene PTPRF interacting protein alpha 1 Neighboring gene H2A.Z histone pseudogene 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10261

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium activated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular calcium activated chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular calcium activated chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
intracellular calcium activated chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular calcium activated chloride channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
iodide transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
voltage-gated chloride channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cation transport IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to heat ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to peptide IEA
Inferred from Electronic Annotation
more info
 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
chloride transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
chloride transport ISS
Inferred from Sequence or Structural Similarity
more info
 
detection of temperature stimulus involved in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 
iodide transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
phospholipase C-activating G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of insulin secretion involved in cellular response to glucose stimulus IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
anoctamin-1
Names
Ca2+-activated Cl- channel
anoctamin 1, calcium activated chloride channel
calcium activated chloride channel
discovered on gastrointestinal stromal tumors protein 1
oral cancer overexpressed 2
transmembrane protein 16A (eight membrane-spanning domains)
tumor-amplified and overexpressed sequence 2

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001378092.1NP_001365021.1  anoctamin-1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (b).
    Source sequence(s)
    AP000879, AP003555
  2. NM_001378093.1NP_001365022.1  anoctamin-1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variant 5, encodes isoform c.
    Source sequence(s)
    AP000879
  3. NM_001378094.1NP_001365023.1  anoctamin-1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variant 4, encodes isoform c.
    Source sequence(s)
    AP000879
  4. NM_001378095.1NP_001365024.1  anoctamin-1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AP000879
  5. NM_001378096.1NP_001365025.1  anoctamin-1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AP000879
  6. NM_001378097.1NP_001365026.1  anoctamin-1 isoform f

    Status: VALIDATED

    Source sequence(s)
    AP000879
  7. NM_018043.6NP_060513.5  anoctamin-1 isoform a

    See identical proteins and their annotated locations for NP_060513.5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AP000879
    Consensus CDS
    CCDS44663.1
    UniProtKB/Swiss-Prot
    Q5XXA6
    UniProtKB/TrEMBL
    Q9NW72
    Related
    ENSP00000347454.5, ENST00000355303.9
    Conserved Domains (2) summary
    pfam04547
    Location:320927
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:54317
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

RNA

  1. NR_030691.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI694083, AK097619, BC027590, BC033036, DB445158, DB450993

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    69985907..70189530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545123.2XP_011543425.1  anoctamin-1 isoform X2

    Conserved Domains (2) summary
    pfam04547
    Location:342948
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:54339
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  2. XM_011545124.2XP_011543426.1  anoctamin-1 isoform X3

    Conserved Domains (2) summary
    pfam04547
    Location:342945
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:54339
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  3. XM_011545126.2XP_011543428.1  anoctamin-1 isoform X7

    Conserved Domains (2) summary
    pfam04547
    Location:342919
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:54339
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  4. XM_011545127.2XP_011543429.1  anoctamin-1 isoform X8

    Conserved Domains (2) summary
    pfam04547
    Location:320901
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:54317
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  5. XM_017017956.1XP_016873445.1  anoctamin-1 isoform X4

  6. XM_006718602.2XP_006718665.1  anoctamin-1 isoform X10

    Conserved Domains (2) summary
    pfam04547
    Location:314921
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:26311
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  7. XM_011545131.2XP_011543433.1  anoctamin-1 isoform X14

    See identical proteins and their annotated locations for XP_011543433.1

    UniProtKB/Swiss-Prot
    Q5XXA6
    Related
    ENSP00000319477.5, ENST00000316296.9
    Conserved Domains (2) summary
    pfam04547
    Location:292605
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:26289
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  8. XM_006718605.2XP_006718668.1  anoctamin-1 isoform X13

    UniProtKB/Swiss-Prot
    Q5XXA6
    Related
    ENSP00000435797.1, ENST00000530676.5
    Conserved Domains (2) summary
    pfam04547
    Location:204781
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:1201
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  9. XM_006718604.2XP_006718667.1  anoctamin-1 isoform X12

    See identical proteins and their annotated locations for XP_006718667.1

    Conserved Domains (2) summary
    pfam04547
    Location:226833
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:1223
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  10. XM_011545129.2XP_011543431.1  anoctamin-1 isoform X11

    Conserved Domains (2) summary
    pfam04547
    Location:313920
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:25310
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
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