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Q75V66

- ANO5_HUMAN

UniProt

Q75V66 - ANO5_HUMAN

Protein

Anoctamin-5

Gene

ANO5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. intracellular calcium activated chloride channel activity Source: UniProt

    GO - Biological processi

    1. chloride transmembrane transport Source: GOC
    2. chloride transport Source: UniProt
    3. ion transmembrane transport Source: Reactome
    4. transmembrane transport Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Anoctamin-5
    Alternative name(s):
    Gnathodiaphyseal dysplasia 1 protein
    Transmembrane protein 16E
    Gene namesi
    Name:ANO5
    Synonyms:GDD1, TMEM16E
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:27337. ANO5.

    Subcellular locationi

    Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane
    Note: Colocalized with CALR/calreticulin. Shows an intracellular localization according to PubMed:22075693.

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. intracellular Source: UniProtKB
    4. plasma membrane Source: UniProt

    Keywords - Cellular componenti

    Cell membrane, Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Gnathodiaphyseal dysplasia (GDD) [MIM:166260]: Rare 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti356 – 3561C → G in GDD; decreases cell adhesion and changes cell morphology to a round shape. 1 Publication
    VAR_023524
    Natural varianti356 – 3561C → R in GDD; decreases cell adhesion and changes cell morphology to a round shape. 1 Publication
    VAR_023525
    Limb-girdle muscular dystrophy 2L (LGMD2L) [MIM:611307]: An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti231 – 2311G → V in LGMD2L. 1 Publication
    Corresponds to variant rs137854523 [ dbSNP | Ensembl ].
    VAR_063582
    Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti655 – 6551W → C in MMD3; unknown pathological significance. 1 Publication
    VAR_068248
    Natural varianti758 – 7581R → C in MMD3. 1 Publication
    VAR_063583

    Keywords - Diseasei

    Disease mutation, Limb-girdle muscular dystrophy, Osteogenesis imperfecta

    Organism-specific databases

    MIMi166260. phenotype.
    611307. phenotype.
    613319. phenotype.
    Orphaneti206549. Autosomal recessive limb-girdle muscular dystrophy type 2L.
    53697. Gnathodiaphyseal dysplasia.
    45448. Miyoshi myopathy.
    PharmGKBiPA164715641.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 913913Anoctamin-5PRO_0000191755Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi335 – 3351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi366 – 3661N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi380 – 3801N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi768 – 7681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi778 – 7781N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi791 – 7911N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ75V66.
    PRIDEiQ75V66.

    PTM databases

    PhosphoSiteiQ75V66.

    Expressioni

    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

    BgeeiQ75V66.
    CleanExiHS_ANO5.
    GenevestigatoriQ75V66.

    Organism-specific databases

    HPAiHPA058857.

    Interactioni

    Protein-protein interaction databases

    BioGridi128482. 1 interaction.
    IntActiQ75V66. 1 interaction.
    STRINGi9606.ENSP00000315371.

    Structurei

    3D structure databases

    ProteinModelPortaliQ75V66.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 299299CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini321 – 38060ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini402 – 46261CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini484 – 51128ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini533 – 55725CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini579 – 679101ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini701 – 73232CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini754 – 83481ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini856 – 91358CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei300 – 32021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei381 – 40121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei463 – 48321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei512 – 53221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei558 – 57821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei680 – 70021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei733 – 75321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei835 – 85521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the anoctamin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG320103.
    HOGENOMiHOG000006509.
    HOVERGENiHBG069519.
    InParanoidiQ75V66.
    OMAiFTTCRYR.
    OrthoDBiEOG7BS48W.
    PhylomeDBiQ75V66.
    TreeFamiTF314265.

    Family and domain databases

    InterProiIPR007632. Anoctamin.
    [Graphical view]
    PANTHERiPTHR12308. PTHR12308. 1 hit.
    PfamiPF04547. Anoctamin. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q75V66-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGDPDLLEVL AEEGEKVNKH IDYSFQMSEQ SLSSRETSFL INEETMPAKR    50
    FNLFLRRRLM FQKNQQSKDS IFFRDGIRQI DFVLSYVDDV KKDAELKAER 100
    RKEFETNLRK TGLELEIEDK RDSEDGRTYF VKIHAPWEVL VTYAEVLGIK 150
    MPIKESDIPR PKHTPISYVL GPVRLPLSVK YPHPEYFTAQ FSRHRQELFL 200
    IEDQATFFPS SSRNRIVYYI LSRCPFGIED GKKRFGIERL LNSNTYSSAY 250
    PLHDGQYWKP SEPPNPTNER YTLHQNWARF SYFYKEQPLD LIKNYYGEKI 300
    GIYFVFLGFY TEMLFFAAVV GLACFIYGLL SMEHNTSSTE ICDPEIGGQM 350
    IMCPLCDQVC DYWRLNSTCL ASKFSHLFDN ESTVFFAIFM GIWVTLFLEF 400
    WKQRQARLEY EWDLVDFEEE QQQLQLRPEF EAMCKHRKLN AVTKEMEPYM 450
    PLYTRIPWYF LSGATVTLWM SLVVTSMVAV IVYRLSVFAT FASFMESDAS 500
    LKQVKSFLTP QITTSLTGSC LNFIVILILN FFYEKISAWI TKMEIPRTYQ 550
    EYESSLTLKM FLFQFVNFYS SCFYVAFFKG KFVGYPGKYT YLFNEWRSEE 600
    CDPGGCLIEL TTQLTIIMTG KQIFGNIKEA IYPLALNWWR RRKARTNSEK 650
    LYSRWEQDHD LESFGPLGLF YEYLETVTQF GFVTLFVASF PLAPLLALIN 700
    NIVEIRVDAW KLTTQYRRTV ASKAHSIGVW QDILYGMAVL SVATNAFIVA 750
    FTSDIIPRLV YYYAYSTNAT QPMTGYVNNS LSVFLIADFP NHTAPSEKRD 800
    FITCRYRDYR YPPDDENKYF HNMQFWHVLA AKMTFIIVME HVVFLVKFLL 850
    AWMIPDVPKD VVERIKREKL MTIKILHDFE LNKLKENLGI NSNEFAKHVM 900
    IEENKAQLAK STL 913
    Length:913
    Mass (Da):107,188
    Last modified:July 5, 2004 - v1
    Checksum:i98BC40318678C073
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti58 – 581R → W Found in a patient with hyper-CK-emia and a neurasthenic syndrome; unknown pathological significance. 1 Publication
    Corresponds to variant rs201725369 [ dbSNP | Ensembl ].
    VAR_068247
    Natural varianti231 – 2311G → V in LGMD2L. 1 Publication
    Corresponds to variant rs137854523 [ dbSNP | Ensembl ].
    VAR_063582
    Natural varianti322 – 3221L → F.
    Corresponds to variant rs7481951 [ dbSNP | Ensembl ].
    VAR_052339
    Natural varianti356 – 3561C → G in GDD; decreases cell adhesion and changes cell morphology to a round shape. 1 Publication
    VAR_023524
    Natural varianti356 – 3561C → R in GDD; decreases cell adhesion and changes cell morphology to a round shape. 1 Publication
    VAR_023525
    Natural varianti655 – 6551W → C in MMD3; unknown pathological significance. 1 Publication
    VAR_068248
    Natural varianti758 – 7581R → C in MMD3. 1 Publication
    VAR_063583
    Natural varianti882 – 8821N → K.
    Corresponds to variant rs34969327 [ dbSNP | Ensembl ].
    VAR_052340

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB125267 mRNA. Translation: BAD17859.1.
    CCDSiCCDS31444.1.
    RefSeqiNP_001136121.1. NM_001142649.1.
    NP_998764.1. NM_213599.2.
    UniGeneiHs.154329.

    Genome annotation databases

    EnsembliENST00000324559; ENSP00000315371; ENSG00000171714.
    GeneIDi203859.
    KEGGihsa:203859.
    UCSCiuc001mqi.2. human.

    Polymorphism databases

    DMDMi74749827.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB125267 mRNA. Translation: BAD17859.1 .
    CCDSi CCDS31444.1.
    RefSeqi NP_001136121.1. NM_001142649.1.
    NP_998764.1. NM_213599.2.
    UniGenei Hs.154329.

    3D structure databases

    ProteinModelPortali Q75V66.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128482. 1 interaction.
    IntActi Q75V66. 1 interaction.
    STRINGi 9606.ENSP00000315371.

    PTM databases

    PhosphoSitei Q75V66.

    Polymorphism databases

    DMDMi 74749827.

    Proteomic databases

    PaxDbi Q75V66.
    PRIDEi Q75V66.

    Protocols and materials databases

    DNASUi 203859.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000324559 ; ENSP00000315371 ; ENSG00000171714 .
    GeneIDi 203859.
    KEGGi hsa:203859.
    UCSCi uc001mqi.2. human.

    Organism-specific databases

    CTDi 203859.
    GeneCardsi GC11P022172.
    GeneReviewsi ANO5.
    HGNCi HGNC:27337. ANO5.
    HPAi HPA058857.
    MIMi 166260. phenotype.
    608662. gene.
    611307. phenotype.
    613319. phenotype.
    neXtProti NX_Q75V66.
    Orphaneti 206549. Autosomal recessive limb-girdle muscular dystrophy type 2L.
    53697. Gnathodiaphyseal dysplasia.
    45448. Miyoshi myopathy.
    PharmGKBi PA164715641.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG320103.
    HOGENOMi HOG000006509.
    HOVERGENi HBG069519.
    InParanoidi Q75V66.
    OMAi FTTCRYR.
    OrthoDBi EOG7BS48W.
    PhylomeDBi Q75V66.
    TreeFami TF314265.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GenomeRNAii 203859.
    NextBioi 90462.
    PROi Q75V66.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q75V66.
    CleanExi HS_ANO5.
    Genevestigatori Q75V66.

    Family and domain databases

    InterProi IPR007632. Anoctamin.
    [Graphical view ]
    PANTHERi PTHR12308. PTHR12308. 1 hit.
    Pfami PF04547. Anoctamin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)."
      Tsutsumi S., Kamata N., Vokes T.J., Maruoka Y., Nakakuki K., Enomoto S., Omura K., Amagasa T., Nagayama M., Saito-Ohara F., Inazawa J., Moritani M., Yamaoka T., Inoue H., Itakura M.
      Am. J. Hum. Genet. 74:1255-1261(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS GDD GLY-356 AND ARG-356, CHARACTERIZATION OF VARIANTS GDD GLY-356 AND ARG-356.
      Tissue: Skeletal muscle.
    2. "Identification and characterization of TMEM16E and TMEM16F genes in silico."
      Katoh M., Katoh M.
      Int. J. Oncol. 24:1345-1349(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    3. Cited for: ABSENCE OF CALCIUM-ACTIVATED CHLORIDE CHANNEL ACTIVITY, SUBCELLULAR LOCATION.
    4. "Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?"
      Duran C., Hartzell H.C.
      Acta Pharmacol. Sin. 32:685-692(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    5. Cited for: REVIEW.
    6. "ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins."
      Duran C., Qu Z., Osunkoya A.O., Cui Y., Hartzell H.C.
      Am. J. Physiol. 302:C482-C493(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ABSENCE OF CALCIUM-ACTIVATED CHLORIDE CHANNEL ACTIVITY, SUBCELLULAR LOCATION.
    7. "The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age."
      Winpenny J.P., Gray M.A.
      Exp. Physiol. 97:175-176(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    8. "Anoctamins are a family of Ca2+ activated Cl- channels."
      Tian Y., Schreiber R., Kunzelmann K.
      J. Cell Sci. 125:4991-4998(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    9. "Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies."
      Bolduc V., Marlow G., Boycott K.M., Saleki K., Inoue H., Kroon J., Itakura M., Robitaille Y., Parent L., Baas F., Mizuta K., Kamata N., Richard I., Linssen W.H., Mahjneh I., de Visser M., Bashir R., Brais B.
      Am. J. Hum. Genet. 86:213-221(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LGMD2L VAL-231, VARIANT MMD3 CYS-758.
    10. "Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy."
      Schessl J., Kress W., Schoser B.
      Muscle Nerve 45:740-742(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TRP-58, VARIANT MMD3 CYS-655.

    Entry informationi

    Entry nameiANO5_HUMAN
    AccessioniPrimary (citable) accession number: Q75V66
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 13, 2005
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 95 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    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.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3