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Q75V66

- ANO5_HUMAN

UniProt

Q75V66 - ANO5_HUMAN

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Protein

Anoctamin-5

Gene
ANO5, GDD1, TMEM16E
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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 1 Publication.4 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 299299Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei300 – 32021Helical; Reviewed predictionAdd
BLAST
Topological domaini321 – 38060Extracellular Reviewed predictionAdd
BLAST
Transmembranei381 – 40121Helical; Reviewed predictionAdd
BLAST
Topological domaini402 – 46261Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei463 – 48321Helical; Reviewed predictionAdd
BLAST
Topological domaini484 – 51128Extracellular Reviewed predictionAdd
BLAST
Transmembranei512 – 53221Helical; Reviewed predictionAdd
BLAST
Topological domaini533 – 55725Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei558 – 57821Helical; Reviewed predictionAdd
BLAST
Topological domaini579 – 679101Extracellular Reviewed predictionAdd
BLAST
Transmembranei680 – 70021Helical; Reviewed predictionAdd
BLAST
Topological domaini701 – 73232Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei733 – 75321Helical; Reviewed predictionAdd
BLAST
Topological domaini754 – 83481Extracellular Reviewed predictionAdd
BLAST
Transmembranei835 – 85521Helical; Reviewed predictionAdd
BLAST
Topological domaini856 – 91358Cytoplasmic Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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...) Reviewed prediction
Glycosylationi366 – 3661N-linked (GlcNAc...) Reviewed prediction
Glycosylationi380 – 3801N-linked (GlcNAc...) Reviewed prediction
Glycosylationi768 – 7681N-linked (GlcNAc...) Reviewed prediction
Glycosylationi778 – 7781N-linked (GlcNAc...) Reviewed prediction
Glycosylationi791 – 7911N-linked (GlcNAc...) Reviewed prediction

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the anoctamin family.

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

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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: September 3, 2014
This is version 94 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

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