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Reviewed, UniProtKB/Swiss-Prot Q75V66 (ANO5_HUMAN)

Last modified November 24, 2009. Version 47. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

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

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Protein attributes

Sequence length913 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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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

Sequence similarities

Belongs to the anoctamin family.

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Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransmembrane
   LigandCalcium
Chloride
   Molecular functionChloride channel
Ionic channel
   PTMGlycoprotein
   Technical termComplete proteome
Gene Ontology (GO)
   Biological procession transport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentchloride channel complex

Inferred from electronic annotation. Source: UniProtKB-KW

endoplasmic reticulum

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functioncalcium ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

chloride channel activity

Inferred from electronic annotation. Source: UniProtKB-KW

chloride ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 913913Anoctamin-5
PRO_0000191755

Regions

Topological domain1 – 299299Cytoplasmic Potential
Transmembrane300 – 32021 Potential
Topological domain321 – 38060Extracellular Potential
Transmembrane381 – 40121 Potential
Topological domain402 – 46261Cytoplasmic Potential
Transmembrane463 – 48321 Potential
Topological domain484 – 51128Extracellular Potential
Transmembrane512 – 53221 Potential
Topological domain533 – 55725Cytoplasmic Potential
Transmembrane558 – 57821 Potential
Topological domain579 – 679101Extracellular Potential
Transmembrane680 – 70021 Potential
Topological domain701 – 73232Cytoplasmic Potential
Transmembrane733 – 75321 Potential
Topological domain754 – 83481Extracellular Potential
Transmembrane835 – 85521 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 variant3221L → F: dbSNP rs7481951.
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 variant8821N → K: dbSNP rs34969327.
VAR_052340

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Sequences

Sequence LengthMass (Da)Tools
Q75V66-1 [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

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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.

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Cross-references

Sequence databases

AB125267 mRNA. Translation: BAD17859.1.
IPIIPI00412694.
RefSeqNP_001136121.1.
NP_998764.1.
UniGeneHs.154329

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGQ75V66.

Proteomic databases

PRIDEQ75V66.

Genome annotation databases

EnsemblENST00000324559; ENSP00000315371; ENSG00000171714; Homo sapiens. [Genome view]
GeneID203859.
KEGGhsa:203859.
NMPDRfig|9606.3.peg.5379.
UCSCuc001mqi.1. human.

Organism-specific databases

CTD203859.
GeneCardsGC11P022172.
HGNCHGNC:27337. ANO5.
MIM166260. phenotype.
608662. gene.
Orphanet53697. Gnathodiaphyseal dysplasia.
PharmGKBPA134942243.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ75V66.
HOVERGENQ75V66.
OMAPLHDGQY
OrthoDBEOG9N8TQD

Gene expression databases

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

Family and domain databases

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

Other Resources

NextBio90462.
SOURCESearch...

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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: November 24, 2009
This is version 47 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

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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

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents