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Protein

Anoctamin-5

Gene

ANO5

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

Functioni

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

GO - Molecular functioni

  • intracellular calcium activated chloride channel activity Source: UniProtKB

GO - Biological processi

  • chloride transport Source: UniProtKB
  • ion transmembrane transport Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Protein family/group databases

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

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:27337. ANO5.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 299CytoplasmicSequence analysisAdd BLAST299
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

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • intracellular Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • vesicle Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

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.
See also OMIM:166260
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023524356C → G in GDD. 1 PublicationCorresponds to variant rs119103234dbSNPEnsembl.1
Natural variantiVAR_023525356C → R in GDD. 1 PublicationCorresponds to variant rs119103234dbSNPEnsembl.1
Natural variantiVAR_076476356C → Y in GDD. 1 Publication1
Natural variantiVAR_076477513T → I in GDD; unknown pathological significance. 1 PublicationCorresponds to variant rs281865467dbSNPEnsembl.1
Limb-girdle muscular dystrophy 2L (LGMD2L)1 Publication
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.
See also OMIM:611307
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063582231G → V in LGMD2L. 1 PublicationCorresponds to variant rs137854523dbSNPEnsembl.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.
See also OMIM:613319
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068248655W → C in MMD3; unknown pathological significance. 1 PublicationCorresponds to variant rs760137559dbSNPEnsembl.1
Natural variantiVAR_063583758R → C in MMD3. 1 PublicationCorresponds to variant rs137854529dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy, Osteogenesis imperfecta

Organism-specific databases

DisGeNETi203859.
MalaCardsiANO5.
MIMi166260. phenotype.
611307. phenotype.
613319. phenotype.
OpenTargetsiENSG00000171714.
Orphaneti206549. Autosomal recessive limb-girdle muscular dystrophy type 2L.
399096. Distal anoctaminopathy.
53697. Gnathodiaphyseal dysplasia.
PharmGKBiPA164715641.

Polymorphism and mutation databases

BioMutaiANO5.
DMDMi74749827.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001917551 – 913Anoctamin-5Add BLAST913

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi335N-linked (GlcNAc...)Sequence analysis1
Glycosylationi366N-linked (GlcNAc...)Sequence analysis1
Glycosylationi380N-linked (GlcNAc...)Sequence analysis1
Glycosylationi768N-linked (GlcNAc...)Sequence analysis1
Glycosylationi778N-linked (GlcNAc...)Sequence analysis1
Glycosylationi791N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ75V66.
PeptideAtlasiQ75V66.
PRIDEiQ75V66.

PTM databases

iPTMnetiQ75V66.
PhosphoSitePlusiQ75V66.

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

BgeeiENSG00000171714.
CleanExiHS_ANO5.
GenevisibleiQ75V66. HS.

Organism-specific databases

HPAiHPA058857.

Interactioni

Protein-protein interaction databases

BioGridi128482. 2 interactors.
IntActiQ75V66. 1 interactor.
STRINGi9606.ENSP00000315371.

Structurei

3D structure databases

ProteinModelPortaliQ75V66.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the anoctamin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2514. Eukaryota.
ENOG410XS4S. LUCA.
GeneTreeiENSGT00760000119015.
HOGENOMiHOG000006509.
HOVERGENiHBG069519.
InParanoidiQ75V66.
KOiK19480.
OMAiFTTCRYR.
OrthoDBiEOG091G01JF.
PhylomeDBiQ75V66.
TreeFamiTF314265.

Family and domain databases

InterProiIPR032394. Anoct_dimer.
IPR007632. Anoctamin.
IPR031294. Anoctamin-5.
[Graphical view]
PANTHERiPTHR12308. PTHR12308. 1 hit.
PTHR12308:SF23. PTHR12308:SF23. 1 hit.
PfamiPF16178. Anoct_dimer. 1 hit.
PF04547. Anoctamin. 1 hit.
[Graphical view]

Sequencei

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
Checksum:i98BC40318678C073
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06824758R → W Found in a patient with hyper-CK-emia and a neurasthenic syndrome; unknown pathological significance. 1 PublicationCorresponds to variant rs201725369dbSNPEnsembl.1
Natural variantiVAR_063582231G → V in LGMD2L. 1 PublicationCorresponds to variant rs137854523dbSNPEnsembl.1
Natural variantiVAR_052339322L → F.Corresponds to variant rs7481951dbSNPEnsembl.1
Natural variantiVAR_023524356C → G in GDD. 1 PublicationCorresponds to variant rs119103234dbSNPEnsembl.1
Natural variantiVAR_023525356C → R in GDD. 1 PublicationCorresponds to variant rs119103234dbSNPEnsembl.1
Natural variantiVAR_076476356C → Y in GDD. 1 Publication1
Natural variantiVAR_076477513T → I in GDD; unknown pathological significance. 1 PublicationCorresponds to variant rs281865467dbSNPEnsembl.1
Natural variantiVAR_068248655W → C in MMD3; unknown pathological significance. 1 PublicationCorresponds to variant rs760137559dbSNPEnsembl.1
Natural variantiVAR_063583758R → C in MMD3. 1 PublicationCorresponds to variant rs137854529dbSNPEnsembl.1
Natural variantiVAR_052340882N → K.Corresponds to variant rs34969327dbSNPEnsembl.1

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.
UniGeneiHs.154329.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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.
UniGeneiHs.154329.

3D structure databases

ProteinModelPortaliQ75V66.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128482. 2 interactors.
IntActiQ75V66. 1 interactor.
STRINGi9606.ENSP00000315371.

Protein family/group databases

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

PTM databases

iPTMnetiQ75V66.
PhosphoSitePlusiQ75V66.

Polymorphism and mutation databases

BioMutaiANO5.
DMDMi74749827.

Proteomic databases

PaxDbiQ75V66.
PeptideAtlasiQ75V66.
PRIDEiQ75V66.

Protocols and materials databases

DNASUi203859.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi203859.
DisGeNETi203859.
GeneCardsiANO5.
GeneReviewsiANO5.
HGNCiHGNC:27337. ANO5.
HPAiHPA058857.
MalaCardsiANO5.
MIMi166260. phenotype.
608662. gene.
611307. phenotype.
613319. phenotype.
neXtProtiNX_Q75V66.
OpenTargetsiENSG00000171714.
Orphaneti206549. Autosomal recessive limb-girdle muscular dystrophy type 2L.
399096. Distal anoctaminopathy.
53697. Gnathodiaphyseal dysplasia.
PharmGKBiPA164715641.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2514. Eukaryota.
ENOG410XS4S. LUCA.
GeneTreeiENSGT00760000119015.
HOGENOMiHOG000006509.
HOVERGENiHBG069519.
InParanoidiQ75V66.
KOiK19480.
OMAiFTTCRYR.
OrthoDBiEOG091G01JF.
PhylomeDBiQ75V66.
TreeFamiTF314265.

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiANO5. human.
GenomeRNAii203859.
PROiQ75V66.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171714.
CleanExiHS_ANO5.
GenevisibleiQ75V66. HS.

Family and domain databases

InterProiIPR032394. Anoct_dimer.
IPR007632. Anoctamin.
IPR031294. Anoctamin-5.
[Graphical view]
PANTHERiPTHR12308. PTHR12308. 1 hit.
PTHR12308:SF23. PTHR12308:SF23. 1 hit.
PfamiPF16178. Anoct_dimer. 1 hit.
PF04547. Anoctamin. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 116 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.