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Q75V66 (ANO5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Anoctamin-5
Alternative name(s):
Gnathodiaphyseal dysplasia 1 protein
Transmembrane protein 16E
Gene names
Name:ANO5
Synonyms:GDD1, TMEM16E
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length913 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May act as a calcium-activated chloride channel.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Note: Co-localized with CALR/calreticulin. Ref.1

Tissue specificity

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. Ref.1 Ref.2

Involvement in disease

Defects in ANO5 are the cause of gnathodiaphyseal dysplasia (GDD) [MIM:166260]; also known as osteogenesis imperfecta with unusual skeletal lesions or gnathodiaphyseal sclerosis. GDD is a 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. Ref.1

Defects in ANO5 are the cause of limb-girdle muscular dystrophy type 2L (LGMD2L) [MIM:611307]. It is 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. Ref.4

Defects in ANO5 are the cause of miyoshi muscular dystrophy type 3 (MMD3) [MIM:613319]. It is 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. Ref.4

Sequence similarities

Belongs to the anoctamin family.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Limb-girdle muscular dystrophy
Osteogenesis imperfecta
   DomainTransmembrane
Transmembrane helix
   LigandCalcium
Chloride
   Molecular functionChloride channel
Ionic channel
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular componentchloride channel complex

Inferred from electronic annotation. Source: UniProtKB-KW

endoplasmic reticulum membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionchloride channel activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 913913Anoctamin-5
PRO_0000191755

Regions

Topological domain1 – 299299Cytoplasmic Potential
Transmembrane300 – 32021Helical; Potential
Topological domain321 – 38060Extracellular Potential
Transmembrane381 – 40121Helical; Potential
Topological domain402 – 46261Cytoplasmic Potential
Transmembrane463 – 48321Helical; Potential
Topological domain484 – 51128Extracellular Potential
Transmembrane512 – 53221Helical; Potential
Topological domain533 – 55725Cytoplasmic Potential
Transmembrane558 – 57821Helical; Potential
Topological domain579 – 679101Extracellular Potential
Transmembrane680 – 70021Helical; Potential
Topological domain701 – 73232Cytoplasmic Potential
Transmembrane733 – 75321Helical; Potential
Topological domain754 – 83481Extracellular Potential
Transmembrane835 – 85521Helical; Potential
Topological domain856 – 91358Cytoplasmic Potential

Amino acid modifications

Glycosylation3351N-linked (GlcNAc...) Potential
Glycosylation3661N-linked (GlcNAc...) Potential
Glycosylation3801N-linked (GlcNAc...) Potential
Glycosylation7681N-linked (GlcNAc...) Potential
Glycosylation7781N-linked (GlcNAc...) Potential
Glycosylation7911N-linked (GlcNAc...) Potential

Natural variations

Natural variant2311G → V in LGMD2L. Ref.4
VAR_063582
Natural variant3221L → F.
Corresponds to variant rs7481951 [ dbSNP | Ensembl ].
VAR_052339
Natural variant3561C → G in GDD; decreases cell adhesion and changes cell morphology to a round shape. Ref.1
VAR_023524
Natural variant3561C → R in GDD; decreases cell adhesion and changes cell morphology to a round shape. Ref.1
VAR_023525
Natural variant7581R → C in MMD3. Ref.4
VAR_063583
Natural variant8821N → K.
Corresponds to variant rs34969327 [ dbSNP | Ensembl ].
VAR_052340

Sequences

Sequence LengthMass (Da)Tools
Q75V66 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 98BC40318678C073

FASTA913107,188
        10         20         30         40         50         60 
MGDPDLLEVL AEEGEKVNKH IDYSFQMSEQ SLSSRETSFL INEETMPAKR FNLFLRRRLM 

        70         80         90        100        110        120 
FQKNQQSKDS IFFRDGIRQI DFVLSYVDDV KKDAELKAER RKEFETNLRK TGLELEIEDK 

       130        140        150        160        170        180 
RDSEDGRTYF VKIHAPWEVL VTYAEVLGIK MPIKESDIPR PKHTPISYVL GPVRLPLSVK 

       190        200        210        220        230        240 
YPHPEYFTAQ FSRHRQELFL IEDQATFFPS SSRNRIVYYI LSRCPFGIED GKKRFGIERL 

       250        260        270        280        290        300 
LNSNTYSSAY PLHDGQYWKP SEPPNPTNER YTLHQNWARF SYFYKEQPLD LIKNYYGEKI 

       310        320        330        340        350        360 
GIYFVFLGFY TEMLFFAAVV GLACFIYGLL SMEHNTSSTE ICDPEIGGQM IMCPLCDQVC 

       370        380        390        400        410        420 
DYWRLNSTCL ASKFSHLFDN ESTVFFAIFM GIWVTLFLEF WKQRQARLEY EWDLVDFEEE 

       430        440        450        460        470        480 
QQQLQLRPEF EAMCKHRKLN AVTKEMEPYM PLYTRIPWYF LSGATVTLWM SLVVTSMVAV 

       490        500        510        520        530        540 
IVYRLSVFAT FASFMESDAS LKQVKSFLTP QITTSLTGSC LNFIVILILN FFYEKISAWI 

       550        560        570        580        590        600 
TKMEIPRTYQ EYESSLTLKM FLFQFVNFYS SCFYVAFFKG KFVGYPGKYT YLFNEWRSEE 

       610        620        630        640        650        660 
CDPGGCLIEL TTQLTIIMTG KQIFGNIKEA IYPLALNWWR RRKARTNSEK LYSRWEQDHD 

       670        680        690        700        710        720 
LESFGPLGLF YEYLETVTQF GFVTLFVASF PLAPLLALIN NIVEIRVDAW KLTTQYRRTV 

       730        740        750        760        770        780 
ASKAHSIGVW QDILYGMAVL SVATNAFIVA FTSDIIPRLV YYYAYSTNAT QPMTGYVNNS 

       790        800        810        820        830        840 
LSVFLIADFP NHTAPSEKRD FITCRYRDYR YPPDDENKYF HNMQFWHVLA AKMTFIIVME 

       850        860        870        880        890        900 
HVVFLVKFLL AWMIPDVPKD VVERIKREKL MTIKILHDFE LNKLKENLGI NSNEFAKHVM 

       910 
IEENKAQLAK STL

« Hide

References

[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: 15124103] [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: 15067359] [Abstract]
Cited for: TISSUE SPECIFICITY.
[3]"TMEM16A confers receptor-activated calcium-dependent chloride conductance."
Yang Y.D., Cho H., Koo J.Y., Tak M.H., Cho Y., Shim W.-S., Park S.P., Lee J., Lee B., Kim B.-M., Raouf R., Shin Y.K., Oh U.
Nature 455:1210-1215(2008) [PubMed: 18724360] [Abstract]
Cited for: IDENTIFICATION AS PUTATIVE CHLORIDE CHANNEL.
[4]"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: 20096397] [Abstract]
Cited for: VARIANT LGMD2L VAL-231, VARIANT MMD3 CYS-758.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		AB125267 mRNA. Translation: BAD17859.1.
IPIIPI00412694.
RefSeqNP_001136121.1. NM_001142649.1.
NP_998764.1. NM_213599.2.
UniGeneHs.154329.

3D structure databases

ProteinModelPortalQ75V66.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ75V66.

Polymorphism databases

DMDM74749827.

Proteomic databases

PRIDEQ75V66.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324559; ENSP00000315371; ENSG00000171714.
GeneID203859.
KEGGhsa:203859.
NMPDRfig|9606.3.peg.5379.
UCSCuc001mqi.1. human.

Organism-specific databases

CTD203859.
GeneCardsGC11P022172.
H-InvDBHIX0009506.
HGNCHGNC:27337. ANO5.
MIM166260. phenotype.
608662. gene.
611307. phenotype.
613319. phenotype.
neXtProtNX_Q75V66.
Orphanet206549. Autosomal recessive limb-girdle muscular dystrophy type 2L.
53697. Gnathodiaphyseal dysplasia.
45448. Miyoshi myopathy.
PharmGKBPA164715641.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG16156.
GeneTreeENSGT00600000084299.
HOGENOMHBG357842.
HOVERGENHBG069519.
InParanoidQ75V66.
OMAPLHDGQY.
OrthoDBEOG4M397V.
PhylomeDBQ75V66.

Gene expression databases

ArrayExpressQ75V66.
BgeeQ75V66.
CleanExHS_ANO5.
GenevestigatorQ75V66.
GermOnlineENSG00000171714. Homo sapiens.

Family and domain databases

InterProIPR007632. Anoctamin.
[Graphical view]
PANTHERPTHR12308. DUF590. 1 hit.
PfamPF04547. Anoctamin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio90462.
SOURCESearch...

Entry information

Entry nameANO5_HUMAN
AccessionPrimary (citable) accession number: Q75V66
Entry history
Integrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: July 5, 2004
Last modified: January 25, 2012
This is version 67 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents