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Q8N1M1 (BEST3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Bestrophin-3
Alternative name(s):
Vitelliform macular dystrophy 2-like protein 3
Gene names
Name:BEST3
Synonyms:VMD2L3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length668 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Forms calcium-sensitive By similarity chloride channels. Permeable to bicarbonate By similarity. Ref.2

Subcellular location

Cell membrane; Multi-pass membrane protein.

Tissue specificity

Present in skeletal muscle and weakly in brain, spinal cord, bone marrow and retina. Ref.1

Sequence similarities

Belongs to the bestrophin family.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   LigandCalcium
Chloride
   Molecular functionChloride channel
Ion channel
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processnegative regulation of ion transport

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentchloride channel complex

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionchloride channel activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: Q8N1M1-2)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 1 (identifier: Q8N1M1-1)

The sequence of this isoform differs from the canonical sequence as follows:
     368-398: LSGSDFPDEEWLWDYEKHGHRHSMIRRVKRF → KQMPKNEWKMEDIKIPLPQPQFQCAKSDPGG
     399-668: Missing.
Isoform 4 (identifier: Q8N1M1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-106: Missing.
     161-178: GFMTTDERKLFNHLKSPH → ERTGMKPILPSSFEMQSF
     179-668: Missing.
Isoform 5 (identifier: Q8N1M1-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-162: Missing.
     239-289: Missing.
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 668668Bestrophin-3
PRO_0000143121

Regions

Topological domain1 – 2525Cytoplasmic Potential
Transmembrane26 – 4621Helical; Potential
Topological domain47 – 7024Extracellular Potential
Transmembrane71 – 9121Helical; Potential
Topological domain92 – 17887Cytoplasmic Potential
Transmembrane179 – 19921Helical; Potential
Topological domain200 – 22829Extracellular Potential
Intramembrane229 – 24921 Potential
Topological domain250 – 27021Extracellular Potential
Transmembrane271 – 29121Helical; Potential
Topological domain292 – 668377Cytoplasmic Potential

Natural variations

Alternative sequence1 – 162162Missing in isoform 5.
VSP_046979
Alternative sequence1 – 106106Missing in isoform 4.
VSP_008981
Alternative sequence161 – 17818GFMTT…LKSPH → ERTGMKPILPSSFEMQSF in isoform 4.
VSP_008982
Alternative sequence179 – 668490Missing in isoform 4.
VSP_008983
Alternative sequence239 – 28951Missing in isoform 5.
VSP_046980
Alternative sequence368 – 39831LSGSD…RVKRF → KQMPKNEWKMEDIKIPLPQP QFQCAKSDPGG in isoform 1.
VSP_008977
Alternative sequence399 – 668270Missing in isoform 1.
VSP_008978
Natural variant431Y → H.
Corresponds to variant rs1025016 [ dbSNP | Ensembl ].
VAR_048409
Natural variant6221E → G.
Corresponds to variant rs17106884 [ dbSNP | Ensembl ].
VAR_048410

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: FDCBD7154C402EA2

FASTA66876,107
        10         20         30         40         50         60 
MTVTYSSKVA NATFFGFHRL LLKWRGSIYK LLYREFIVFA VLYTAISLVY RLLLTGVQKR 

        70         80         90        100        110        120 
YFEKLSIYCD RYAEQIPVTF VLGFYVTLVV NRWWNQFVNL PWPDRLMFLI SSSVHGSDEH 

       130        140        150        160        170        180 
GRLLRRTLMR YVNLTSLLIF RSVSTAVYKR FPTMDHVVEA GFMTTDERKL FNHLKSPHLK 

       190        200        210        220        230        240 
YWVPFIWFGN LATKARNEGR IRDSVDLQSL MTEMNRYRSW CSLLFGYDWV GIPLVYTQVV 

       250        260        270        280        290        300 
TLAVYTFFFA CLIGRQFLDP TKGYAGHDLD LYIPIFTLLQ FFFYAGWLKV AEQLINPFGE 

       310        320        330        340        350        360 
DDDDFETNWC IDRNLQVSLL AVDEMHMSLP KMKKDIYWDD SAARPPYTLA AADYCIPSFL 

       370        380        390        400        410        420 
GSTVQMGLSG SDFPDEEWLW DYEKHGHRHS MIRRVKRFLS AHEHPSSPRR RSYRRQTSDS 

       430        440        450        460        470        480 
SMFLPRDDLS PARDLLDVPS RNPPRASPTW KKSCFPEGSP TLHFSMGELS TIRETSQTST 

       490        500        510        520        530        540 
LQSLTPQSSV RTSPIKMPLV PEVLITAAEA PVPTSGGYHH DSATSILSSE FTGVQPSKTE 

       550        560        570        580        590        600 
QQQGPMGSIL SPSEKETPPG GPSPQTVSAS AEENIFNCEE DPGDTFLKRW SLPGFLGSSH 

       610        620        630        640        650        660 
TSLGNLSPDP MSSQPALLID TETSSEISGI NIVAGSRVSS DMLYLMENLD TKETDIIELN 


KETEESPK 

« Hide

Isoform 1 [UniParc].

Checksum: 045DD62330EADD26
Show »

FASTA39846,570
Isoform 4 [UniParc].

Checksum: EFC600A37012F005
Show »

FASTA728,307
Isoform 5 [UniParc].

Checksum: D52A54DC672B1961
Show »

FASTA45551,028

References

« Hide 'large scale' references
[1]"Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family."
Stoehr H., Marquardt A., Nanda I., Schmid M., Weber B.H.F.
Eur. J. Hum. Genet. 10:281-284(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]"Structure-function analysis of the bestrophin family of anion channels."
Tsunenari T., Sun H., Williams J., Cahill H., Smallwood P., Yau K.-W., Nathans J.
J. Biol. Chem. 278:41114-41125(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Tongue.
[4]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Lymph.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF440758 mRNA. Translation: AAM76997.1.
AY515706 mRNA. Translation: AAR99656.1.
AK096459 mRNA. Translation: BAC04797.1.
AC016153 Genomic DNA. No translation available.
AC018921 Genomic DNA. No translation available.
AC025263 Genomic DNA. No translation available.
BC006440 mRNA. Translation: AAH06440.1.
CCDSCCDS41810.1. [Q8N1M1-5]
CCDS61193.1. [Q8N1M1-1]
CCDS8992.2. [Q8N1M1-2]
RefSeqNP_001269543.1. NM_001282614.1. [Q8N1M1-1]
NP_001269544.1. NM_001282615.1. [Q8N1M1-4]
NP_001269545.1. NM_001282616.1. [Q8N1M1-4]
NP_116124.2. NM_032735.2. [Q8N1M1-2]
NP_689652.2. NM_152439.3. [Q8N1M1-5]
UniGeneHs.280782.

3D structure databases

ProteinModelPortalQ8N1M1.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ8N1M1.

Polymorphism databases

DMDM38503351.

Proteomic databases

PaxDbQ8N1M1.
PRIDEQ8N1M1.

Protocols and materials databases

DNASU144453.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000266661; ENSP00000266661; ENSG00000127325. [Q8N1M1-4]
ENST00000330891; ENSP00000332413; ENSG00000127325. [Q8N1M1-2]
ENST00000331471; ENSP00000329064; ENSG00000127325. [Q8N1M1-1]
ENST00000393365; ENSP00000377032; ENSG00000127325. [Q8N1M1-4]
ENST00000488961; ENSP00000433213; ENSG00000127325. [Q8N1M1-5]
ENST00000551160; ENSP00000449377; ENSG00000127325. [Q8N1M1-4]
GeneID144453.
KEGGhsa:144453.
UCSCuc001svd.2. human. [Q8N1M1-1]
uc001svg.3. human. [Q8N1M1-2]

Organism-specific databases

CTD144453.
GeneCardsGC12M070037.
H-InvDBHIX0010809.
HGNCHGNC:17105. BEST3.
HPAHPA054582.
MIM607337. gene.
neXtProtNX_Q8N1M1.
PharmGKBPA162377503.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315004.
HOGENOMHOG000115678.
HOVERGENHBG080894.
InParanoidQ8N1M1.
KOK13880.
OMAKRFLSAH.
OrthoDBEOG7N0C43.
PhylomeDBQ8N1M1.
TreeFamTF315803.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ8N1M1.
BgeeQ8N1M1.
CleanExHS_BEST3.
GenevestigatorQ8N1M1.

Family and domain databases

InterProIPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERPTHR10736. PTHR10736. 1 hit.
PfamPF01062. Bestrophin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi144453.
NextBio84929.
PROQ8N1M1.
SOURCESearch...

Entry information

Entry nameBEST3_HUMAN
AccessionPrimary (citable) accession number: Q8N1M1
Secondary accession number(s): B5MDI8 expand/collapse secondary AC list , Q53YQ7, Q8N356, Q8NFT9, Q9BR80
Entry history
Integrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 109 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM