Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 139 (12 Aug 2020)
Sequence version 1 (05 Jul 2004)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Anoctamin-5

Gene

ANO5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Does not exhibit calcium-activated chloride channel (CaCC) activity.2 Publications

Miscellaneous

The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q75V66

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2672351, Stimuli-sensing channels

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.17.1.21, the calcium-dependent chloride channel (ca-clc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Anoctamin-5
Alternative name(s):
Gnathodiaphyseal dysplasia 1 protein
Transmembrane protein 16E
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ANO5
Synonyms:GDD1, TMEM16E
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000171714.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:27337, ANO5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608662, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q75V66

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 299CytoplasmicSequence analysisAdd BLAST299
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei300 – 320HelicalSequence analysisAdd BLAST21
Topological domaini321 – 380ExtracellularSequence analysisAdd BLAST60
Transmembranei381 – 401HelicalSequence analysisAdd BLAST21
Topological domaini402 – 462CytoplasmicSequence analysisAdd BLAST61
Transmembranei463 – 483HelicalSequence analysisAdd BLAST21
Topological domaini484 – 511ExtracellularSequence analysisAdd BLAST28
Transmembranei512 – 532HelicalSequence analysisAdd BLAST21
Topological domaini533 – 557CytoplasmicSequence analysisAdd BLAST25
Transmembranei558 – 578HelicalSequence analysisAdd BLAST21
Topological domaini579 – 679ExtracellularSequence analysisAdd BLAST101
Transmembranei680 – 700HelicalSequence analysisAdd BLAST21
Topological domaini701 – 732CytoplasmicSequence analysisAdd BLAST32
Transmembranei733 – 753HelicalSequence analysisAdd BLAST21
Topological domaini754 – 834ExtracellularSequence analysisAdd BLAST81
Transmembranei835 – 855HelicalSequence analysisAdd BLAST21
Topological domaini856 – 913CytoplasmicSequence analysisAdd BLAST58

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Gnathodiaphyseal dysplasia (GDD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023524356C → G in GDD. 1 PublicationCorresponds to variant dbSNP:rs119103234EnsemblClinVar.1
Natural variantiVAR_023525356C → R in GDD. 1 PublicationCorresponds to variant dbSNP:rs119103234EnsemblClinVar.1
Natural variantiVAR_076476356C → Y in GDD. 1 Publication1
Natural variantiVAR_076477513T → I in GDD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs281865467EnsemblClinVar.1
Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08027152N → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143777403EnsemblClinVar.1
Natural variantiVAR_08027254F → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886043577EnsemblClinVar.1
Natural variantiVAR_06824758R → W in LGMDR12; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs201725369EnsemblClinVar.1
Natural variantiVAR_08027387V → I in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34994927EnsemblClinVar.1
Natural variantiVAR_08027493D → E in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080275143Y → C in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080276202E → K in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs115750596EnsemblClinVar.1
Natural variantiVAR_080277206T → A in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs78266558EnsemblClinVar.1
Natural variantiVAR_063582231G → V in LGMDR12; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs137854523EnsemblClinVar.1
Natural variantiVAR_080278259K → N in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080279265N → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377553546EnsemblClinVar.1
Natural variantiVAR_080280266P → L in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745908606EnsemblClinVar.1
Natural variantiVAR_080281267T → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138144479EnsemblClinVar.1
Natural variantiVAR_080282404R → L in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080301405 – 913Missing in LGMDR12. 1 PublicationAdd BLAST509
Natural variantiVAR_080283421 – 913Missing in LGMDR12. 1 PublicationAdd BLAST493
Natural variantiVAR_080284506S → G in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141799673EnsemblClinVar.1
Natural variantiVAR_080285547 – 913Missing in LGMDR12; unknown pathological significance. 1 PublicationAdd BLAST367
Natural variantiVAR_080286547R → Q in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139618850EnsemblClinVar.1
Natural variantiVAR_080287555S → I in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375014127EnsemblClinVar.1
Natural variantiVAR_080288578F → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137854526EnsemblClinVar.1
Natural variantiVAR_080289618M → I in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1422717390Ensembl.1
Natural variantiVAR_080290701Missing in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080291714T → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200631556EnsemblClinVar.1
Natural variantiVAR_063583758R → C in MMD3 and LGMDR12; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs137854529EnsemblClinVar.1
Natural variantiVAR_080292781L → P in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080293796S → L in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61910685EnsemblClinVar.1
Natural variantiVAR_080294804C → S in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080295830A → V in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766853141EnsemblClinVar.1
Natural variantiVAR_080296833M → K in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142073798EnsemblClinVar.1
Natural variantiVAR_080297839M → R in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080298900M → L in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148293985EnsemblClinVar.1
Miyoshi muscular dystrophy 3 (MMD3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068248655W → C in MMD3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760137559EnsemblClinVar.1
Natural variantiVAR_063583758R → C in MMD3 and LGMDR12; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs137854529EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy, Osteogenesis imperfecta

Organism-specific databases

DisGeNET

More...
DisGeNETi
203859

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ANO5

MalaCards human disease database

More...
MalaCardsi
ANO5
MIMi166260, phenotype
611307, phenotype
613319, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000171714

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
206549, Anoctamin-5-related limb-girdle muscular dystrophy R12
399096, Distal anoctaminopathy
53697, Gnathodiaphyseal dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164715641

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q75V66, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ANO5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74749827

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001917551 – 913Anoctamin-5Add BLAST913

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi335N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi366N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi380N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi768N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi778N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi791N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q75V66

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q75V66

PeptideAtlas

More...
PeptideAtlasi
Q75V66

PRoteomics IDEntifications database

More...
PRIDEi
Q75V66

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
68653

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q75V66, 6 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q75V66

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q75V66

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000171714, Expressed in biceps brachii and 188 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q75V66, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000171714, Tissue enhanced (heart muscle, parathyroid gland, skeletal muscle)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
128482, 3 interactors

Protein interaction database and analysis system

More...
IntActi
Q75V66, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000315371

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q75V66, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q75V66

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the anoctamin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2514, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155692

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_006685_1_4_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q75V66

KEGG Orthology (KO)

More...
KOi
K19480

Identification of Orthologs from Complete Genome Data

More...
OMAi
WITKMEL

Database of Orthologous Groups

More...
OrthoDBi
1263362at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q75V66

TreeFam database of animal gene trees

More...
TreeFami
TF314265

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032394, Anoct_dimer
IPR007632, Anoctamin
IPR031294, Anoctamin-5

The PANTHER Classification System

More...
PANTHERi
PTHR12308, PTHR12308, 1 hit
PTHR12308:SF23, PTHR12308:SF23, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16178, Anoct_dimer, 1 hit
PF04547, Anoctamin, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q75V66-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGDPDLLEVL AEEGEKVNKH IDYSFQMSEQ SLSSRETSFL INEETMPAKR
60 70 80 90 100
FNLFLRRRLM FQKNQQSKDS IFFRDGIRQI DFVLSYVDDV KKDAELKAER
110 120 130 140 150
RKEFETNLRK TGLELEIEDK RDSEDGRTYF VKIHAPWEVL VTYAEVLGIK
160 170 180 190 200
MPIKESDIPR PKHTPISYVL GPVRLPLSVK YPHPEYFTAQ FSRHRQELFL
210 220 230 240 250
IEDQATFFPS SSRNRIVYYI LSRCPFGIED GKKRFGIERL LNSNTYSSAY
260 270 280 290 300
PLHDGQYWKP SEPPNPTNER YTLHQNWARF SYFYKEQPLD LIKNYYGEKI
310 320 330 340 350
GIYFVFLGFY TEMLFFAAVV GLACFIYGLL SMEHNTSSTE ICDPEIGGQM
360 370 380 390 400
IMCPLCDQVC DYWRLNSTCL ASKFSHLFDN ESTVFFAIFM GIWVTLFLEF
410 420 430 440 450
WKQRQARLEY EWDLVDFEEE QQQLQLRPEF EAMCKHRKLN AVTKEMEPYM
460 470 480 490 500
PLYTRIPWYF LSGATVTLWM SLVVTSMVAV IVYRLSVFAT FASFMESDAS
510 520 530 540 550
LKQVKSFLTP QITTSLTGSC LNFIVILILN FFYEKISAWI TKMEIPRTYQ
560 570 580 590 600
EYESSLTLKM FLFQFVNFYS SCFYVAFFKG KFVGYPGKYT YLFNEWRSEE
610 620 630 640 650
CDPGGCLIEL TTQLTIIMTG KQIFGNIKEA IYPLALNWWR RRKARTNSEK
660 670 680 690 700
LYSRWEQDHD LESFGPLGLF YEYLETVTQF GFVTLFVASF PLAPLLALIN
710 720 730 740 750
NIVEIRVDAW KLTTQYRRTV ASKAHSIGVW QDILYGMAVL SVATNAFIVA
760 770 780 790 800
FTSDIIPRLV YYYAYSTNAT QPMTGYVNNS LSVFLIADFP NHTAPSEKRD
810 820 830 840 850
FITCRYRDYR YPPDDENKYF HNMQFWHVLA AKMTFIIVME HVVFLVKFLL
860 870 880 890 900
AWMIPDVPKD VVERIKREKL MTIKILHDFE LNKLKENLGI NSNEFAKHVM
910
IEENKAQLAK STL
Length:913
Mass (Da):107,188
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i98BC40318678C073
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08027152N → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs143777403EnsemblClinVar.1
Natural variantiVAR_08027254F → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886043577EnsemblClinVar.1
Natural variantiVAR_06824758R → W in LGMDR12; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs201725369EnsemblClinVar.1
Natural variantiVAR_08027387V → I in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34994927EnsemblClinVar.1
Natural variantiVAR_08027493D → E in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080275143Y → C in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080276202E → K in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs115750596EnsemblClinVar.1
Natural variantiVAR_080277206T → A in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs78266558EnsemblClinVar.1
Natural variantiVAR_063582231G → V in LGMDR12; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs137854523EnsemblClinVar.1
Natural variantiVAR_080278259K → N in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080279265N → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs377553546EnsemblClinVar.1
Natural variantiVAR_080280266P → L in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745908606EnsemblClinVar.1
Natural variantiVAR_080281267T → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138144479EnsemblClinVar.1
Natural variantiVAR_052339322L → F. Corresponds to variant dbSNP:rs7481951EnsemblClinVar.1
Natural variantiVAR_023524356C → G in GDD. 1 PublicationCorresponds to variant dbSNP:rs119103234EnsemblClinVar.1
Natural variantiVAR_023525356C → R in GDD. 1 PublicationCorresponds to variant dbSNP:rs119103234EnsemblClinVar.1
Natural variantiVAR_076476356C → Y in GDD. 1 Publication1
Natural variantiVAR_080282404R → L in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080301405 – 913Missing in LGMDR12. 1 PublicationAdd BLAST509
Natural variantiVAR_080283421 – 913Missing in LGMDR12. 1 PublicationAdd BLAST493
Natural variantiVAR_080284506S → G in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141799673EnsemblClinVar.1
Natural variantiVAR_076477513T → I in GDD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs281865467EnsemblClinVar.1
Natural variantiVAR_080285547 – 913Missing in LGMDR12; unknown pathological significance. 1 PublicationAdd BLAST367
Natural variantiVAR_080286547R → Q in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139618850EnsemblClinVar.1
Natural variantiVAR_080287555S → I in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375014127EnsemblClinVar.1
Natural variantiVAR_080288578F → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137854526EnsemblClinVar.1
Natural variantiVAR_080289618M → I in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1422717390Ensembl.1
Natural variantiVAR_068248655W → C in MMD3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760137559EnsemblClinVar.1
Natural variantiVAR_080290701Missing in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080291714T → S in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200631556EnsemblClinVar.1
Natural variantiVAR_063583758R → C in MMD3 and LGMDR12; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs137854529EnsemblClinVar.1
Natural variantiVAR_080292781L → P in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080293796S → L in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61910685EnsemblClinVar.1
Natural variantiVAR_080294804C → S in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_080295830A → V in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs766853141EnsemblClinVar.1
Natural variantiVAR_080296833M → K in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142073798EnsemblClinVar.1
Natural variantiVAR_080297839M → R in LGMDR12; unknown pathological significance. 1 Publication1
Natural variantiVAR_052340882N → K. Corresponds to variant dbSNP:rs34969327EnsemblClinVar.1
Natural variantiVAR_080298900M → L in LGMDR12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs148293985EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB125267 mRNA Translation: BAD17859.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31444.1

NCBI Reference Sequences

More...
RefSeqi
NP_001136121.1, NM_001142649.1
NP_998764.1, NM_213599.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000324559; ENSP00000315371; ENSG00000171714

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
203859

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:203859

UCSC genome browser

More...
UCSCi
uc001mqi.3, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB125267 mRNA Translation: BAD17859.1
CCDSiCCDS31444.1
RefSeqiNP_001136121.1, NM_001142649.1
NP_998764.1, NM_213599.2

3D structure databases

SMRiQ75V66
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi128482, 3 interactors
IntActiQ75V66, 2 interactors
STRINGi9606.ENSP00000315371

Protein family/group databases

TCDBi1.A.17.1.21, the calcium-dependent chloride channel (ca-clc) family

PTM databases

GlyGeniQ75V66, 6 sites
iPTMnetiQ75V66
PhosphoSitePlusiQ75V66

Polymorphism and mutation databases

BioMutaiANO5
DMDMi74749827

Proteomic databases

MassIVEiQ75V66
PaxDbiQ75V66
PeptideAtlasiQ75V66
PRIDEiQ75V66
ProteomicsDBi68653

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
53749, 78 antibodies

The DNASU plasmid repository

More...
DNASUi
203859

Genome annotation databases

EnsembliENST00000324559; ENSP00000315371; ENSG00000171714
GeneIDi203859
KEGGihsa:203859
UCSCiuc001mqi.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
203859
DisGeNETi203859
EuPathDBiHostDB:ENSG00000171714.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ANO5
GeneReviewsiANO5
HGNCiHGNC:27337, ANO5
HPAiENSG00000171714, Tissue enhanced (heart muscle, parathyroid gland, skeletal muscle)
MalaCardsiANO5
MIMi166260, phenotype
608662, gene
611307, phenotype
613319, phenotype
neXtProtiNX_Q75V66
OpenTargetsiENSG00000171714
Orphaneti206549, Anoctamin-5-related limb-girdle muscular dystrophy R12
399096, Distal anoctaminopathy
53697, Gnathodiaphyseal dysplasia
PharmGKBiPA164715641

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2514, Eukaryota
GeneTreeiENSGT00940000155692
HOGENOMiCLU_006685_1_4_1
InParanoidiQ75V66
KOiK19480
OMAiWITKMEL
OrthoDBi1263362at2759
PhylomeDBiQ75V66
TreeFamiTF314265

Enzyme and pathway databases

PathwayCommonsiQ75V66
ReactomeiR-HSA-2672351, Stimuli-sensing channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
203859, 4 hits in 871 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ANO5, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
203859
PharosiQ75V66, Tbio

Protein Ontology

More...
PROi
PR:Q75V66
RNActiQ75V66, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000171714, Expressed in biceps brachii and 188 other tissues
GenevisibleiQ75V66, HS

Family and domain databases

InterProiView protein in InterPro
IPR032394, Anoct_dimer
IPR007632, Anoctamin
IPR031294, Anoctamin-5
PANTHERiPTHR12308, PTHR12308, 1 hit
PTHR12308:SF23, PTHR12308:SF23, 1 hit
PfamiView protein in Pfam
PF16178, Anoct_dimer, 1 hit
PF04547, Anoctamin, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiANO5_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q75V66
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: July 5, 2004
Last modified: August 12, 2020
This is version 139 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again