ANO1 anoctamin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANO1provided by HGNC
Official Full Name: anoctamin 1provided by HGNC
Primary source: HGNC:HGNC:21625
See related: Ensembl:ENSG00000131620 MIM:610108; AllianceGenome:HGNC:21625
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; INDMS; MYMY7; TAOS2; ORAOV2; TMEM16A
Summary: Enables identical protein binding activity; iodide transmembrane transporter activity; and ligand-gated monoatomic ion channel activity. Involved in several processes, including monoatomic anion transport; mucus secretion; and positive regulation of insulin secretion involved in cellular response to glucose stimulus. Located in apical plasma membrane and nucleoplasm. Implicated in Moyamoya disease. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in skin (RPKM 23.9), salivary gland (RPKM 22.1) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.3

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (69965997..70189530)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (69983135..70204739)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (69832013..70035636)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMEM16A inhibits autophagy and promotes the invasion of hypopharyngeal squamous cell carcinoma through mTOR pathway.
Title: TMEM16A inhibits autophagy and promotes the invasion of hypopharyngeal squamous cell carcinoma through mTOR pathway.
[Expressions of zinc homeostasis proteins, GPR39 and ANO1 mRNA in the sperm of asthenozoospermia patients and their clinical significance].
Title: [Expressions of zinc homeostasis proteins, GPR39 and ANO1 mRNA in the sperm of asthenozoospermia patients and their clinical significance].
Promoter hypermethylation as a novel regulator of ANO1 expression and function in prostate cancer bone metastasis.
Title: Promoter hypermethylation as a novel regulator of ANO1 expression and function in prostate cancer bone metastasis.
Ano1 regulates embryo transport by modulating intracellular calcium levels in oviduct smooth muscle.
Title: Ano1 regulates embryo transport by modulating intracellular calcium levels in oviduct smooth muscle.
TMEM16A enhances the activity of the Cdc42-NWASP signaling pathway to promote invasion and metastasis in oral squamous cell carcinoma.
Title: TMEM16A enhances the activity of the Cdc42-NWASP signaling pathway to promote invasion and metastasis in oral squamous cell carcinoma.
High ANO1 expression is a prognostic factor and correlated with an immunosuppressive tumor microenvironment in pancreatic cancer.
Title: High ANO1 expression is a prognostic factor and correlated with an immunosuppressive tumor microenvironment in pancreatic cancer.
The TMEM16A channel as a potential therapeutic target in vascular disease.
Title: The TMEM16A channel as a potential therapeutic target in vascular disease.
Anoctamin-1 is induced by TGF-beta and contributes to lung myofibroblast differentiation.
Title: Anoctamin-1 is induced by TGF-β and contributes to lung myofibroblast differentiation.
Function and Regulation of the Calcium-Activated Chloride Channel Anoctamin 1 (TMEM16A).
Title: Function and Regulation of the Calcium-Activated Chloride Channel Anoctamin 1 (TMEM16A).
The Anion Channel TMEM16a/Ano1 Modulates CFTR Activity, but Does Not Function as an Apical Anion Channel in Colonic Epithelium from Cystic Fibrosis Patients and Healthy Individuals.
Title: The Anion Channel TMEM16a/Ano1 Modulates CFTR Activity, but Does Not Function as an Apical Anion Channel in Colonic Epithelium from Cystic Fibrosis Patients and Healthy Individuals.

Submit: New GeneRIF Correction See all GeneRIFs (217)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intestinal dysmotility syndrome MedGen: C5774219 OMIM: 620045 GeneReviews: Not available	not available
Moyamoya disease 7 MedGen: C5882748 OMIM: 620687 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

TMEM16A_9873 (e-PCR)
- UniSTS:468761

RH48109 (e-PCR)
- UniSTS:57542

RH92087 (e-PCR)
- UniSTS:87251

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium-activated cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables chloride channel activity	TAS Traceable Author Statement more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables intracellularly calcium-gated chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables intracellularly calcium-gated chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables intracellularly calcium-gated chloride channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables intracellularly calcium-gated chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables iodide transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info
enables voltage-gated chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to heat	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to peptide	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in chloride transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chloride transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chloride transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in detection of temperature stimulus involved in sensory perception of pain	ISS Inferred from Sequence or Structural Similarity more info
involved_in glial cell projection elongation	ISS Inferred from Sequence or Structural Similarity more info
involved_in iodide transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic cation transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	TAS Traceable Author Statement more info
involved_in mucus secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mucus secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to membrane	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_001378092.1 → NP_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

Consensus CDS

CCDS91524.1

UniProtKB/TrEMBL

W6JLH6

Related

ENSP00000432843.2, ENST00000531349.6

Conserved Domains (2) summary

pfam04547
Location:383 → 989

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:95 → 380

Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
NM_001378093.1 → NP_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

UniProtKB/TrEMBL

W6JLH6

Conserved Domains (2) summary

pfam04547
Location:320 → 922

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:54 → 317

Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
NM_001378094.2 → NP_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

UniProtKB/TrEMBL

W6JLH6

Conserved Domains (2) summary

pfam04547
Location:320 → 922

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:54 → 317

Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
NM_001378095.2 → NP_001365024.1 anoctamin-1 isoform d

Status: VALIDATED

Source sequence(s)

AP000879

UniProtKB/TrEMBL

W6JLH6

Conserved Domains (2) summary

pfam04547
Location:342 → 922

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:54 → 339

Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
NM_001378096.2 → NP_001365025.1 anoctamin-1 isoform e

Status: VALIDATED

Source sequence(s)

AP000879

UniProtKB/TrEMBL

W6JLH6

Conserved Domains (2) summary

pfam04547
Location:320 → 896

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:54 → 317

Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
NM_001378097.2 → NP_001365026.1 anoctamin-1 isoform f

Status: VALIDATED

Source sequence(s)

AP000879

UniProtKB/TrEMBL

W6JLH6

Conserved Domains (2) summary

pfam04547
Location:287 → 867

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:54 → 284

Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
NM_018043.7 → NP_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) encodes isoform a.

Source sequence(s)

AP000879

Consensus CDS

CCDS44663.1

UniProtKB/Swiss-Prot

A0A2H4Y9B2, A8KAM3, E9PNA7, Q5XXA6, Q8IYY8, Q8N7V3

UniProtKB/TrEMBL

W6JLH6

Related

ENSP00000347454.5, ENST00000355303.10

Conserved Domains (2) summary

pfam04547
Location:320 → 927

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:54 → 317

Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

RNA

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

Related

ENST00000530676.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

69965997..70189530

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427185.1 → XP_047283141.1 anoctamin-1 isoform X7
XM_047427181.1 → XP_047283137.1 anoctamin-1 isoform X3
XM_047427184.1 → XP_047283140.1 anoctamin-1 isoform X6
XM_047427183.1 → XP_047283139.1 anoctamin-1 isoform X5
XM_047427182.1 → XP_047283138.1 anoctamin-1 isoform X5
XM_047427186.1 → XP_047283142.1 anoctamin-1 isoform X8

UniProtKB/Swiss-Prot

A0A2H4Y9B2, A8KAM3, E9PNA7, Q5XXA6, Q8IYY8, Q8N7V3
XM_011545123.3 → XP_011543425.1 anoctamin-1 isoform X1

UniProtKB/TrEMBL

W6JLH6

Conserved Domains (2) summary

pfam04547
Location:342 → 948

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:54 → 339

Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
XM_011545124.3 → XP_011543426.1 anoctamin-1 isoform X2

UniProtKB/TrEMBL

W6JLH6

Conserved Domains (2) summary

pfam04547
Location:342 → 945

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:54 → 339

Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
XM_011545127.3 → XP_011543429.1 anoctamin-1 isoform X4

UniProtKB/TrEMBL

W6JLH6

Conserved Domains (2) summary

pfam04547
Location:320 → 901

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:54 → 317

Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
XM_006718602.3 → XP_006718665.1 anoctamin-1 isoform X9

UniProtKB/TrEMBL

W6JLH6

Conserved Domains (2) summary

pfam04547
Location:314 → 921

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:26 → 311

Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
XM_011545129.3 → XP_011543431.1 anoctamin-1 isoform X10

UniProtKB/TrEMBL

W6JLH6

Conserved Domains (2) summary

pfam04547
Location:313 → 920

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:25 → 310

Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
XM_011545131.3 → XP_011543433.1 anoctamin-1 isoform X12

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:292 → 605

Anoctamin; Calcium-activated chloride channel

pfam16178
Location:26 → 289

Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
XM_047427187.1 → XP_047283143.1 anoctamin-1 isoform X11

Related

ENST00000689710.1