Q8N1M1 (BEST3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Bestrophin-3

Alternative name(s):
Vitelliform macular dystrophy 2-like protein 3

Gene names

Name:	BEST3
Synonyms:	VMD2L3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	668 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Ion transport Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Calcium Chloride
Molecular function	Chloride channel Ion channel
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of ion transport Inferred from electronic annotation. Source: Compara
Cellular_component	chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	chloride channel activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 668	668	Bestrophin-3		PRO_0000143121
Regions
	Topological domain	1 – 25	25	Cytoplasmic Potential
	Transmembrane	26 – 46	21	Helical; Potential
	Topological domain	47 – 70	24	Extracellular Potential
	Transmembrane	71 – 91	21	Helical; Potential
	Topological domain	92 – 178	87	Cytoplasmic Potential
	Transmembrane	179 – 199	21	Helical; Potential
	Topological domain	200 – 228	29	Extracellular Potential
	Intramembrane	229 – 249	21	Potential
	Topological domain	250 – 270	21	Extracellular Potential
	Transmembrane	271 – 291	21	Helical; Potential
	Topological domain	292 – 668	377	Cytoplasmic Potential
Natural variations
	Alternative sequence	1 – 106	106	Missing in isoform 4.		VSP_008981
	Alternative sequence	161 – 178	18	GFMTT…LKSPH → ERTGMKPILPSSFEMQSF in isoform 4.		VSP_008982
	Alternative sequence	179 – 668	490	Missing in isoform 4.		VSP_008983
	Alternative sequence	368 – 398	31	LSGSD…RVKRF → KQMPKNEWKMEDIKIPLPQP QFQCAKSDPGG in isoform 1.		VSP_008977
	Alternative sequence	399 – 668	270	Missing in isoform 1.		VSP_008978
	Natural variant	43	1	Y → H. Corresponds to variant rs1025016 [ dbSNP | Ensembl ].		VAR_048409
	Natural variant	622	1	E → G. Corresponds to variant rs17106884 [ dbSNP | Ensembl ].		VAR_048410

Sequences

	Sequence		Length	Mass (Da)
	Isoform 2 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: FDCBD7154C402EA2	FASTA	668	76,107
	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
	Isoform 1 [UniParc]. Checksum: 045DD62330EADD26	FASTA	398	46,570
	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 GSTVQMGKQM PKNEWKMEDI KIPLPQPQFQ CAKSDPGG
	Isoform 4 [UniParc]. Checksum: EFC600A37012F005	FASTA	72	8,307
	10 20 30 40 50 60 MFLISSSVHG SDEHGRLLRR TLMRYVNLTS LLIFRSVSTA VYKRFPTMDH VVEAERTGMK 70 PILPSSFEMQ SF

References

	« Hide 'large scale' referencesShow '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. , 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 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. BC006440 mRNA. Translation: AAH06440.1.
IPI	IPI00013763. IPI00166196. IPI00168901.
RefSeq	NP_116124.2. NM_032735.2.
UniGene	Hs.280782.
3D structure databases
ProteinModelPortal	Q8N1M1.
ModBase	Search...
PTM databases
PhosphoSite	Q8N1M1.
Polymorphism databases
DMDM	38503351.
Proteomic databases
PaxDb	Q8N1M1.
PRIDE	Q8N1M1.
Protocols and materials databases
DNASU	144453.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000266661; ENSP00000266661; ENSG00000127325. ENST00000330891; ENSP00000332413; ENSG00000127325. ENST00000331471; ENSP00000329064; ENSG00000127325. ENST00000393365; ENSP00000377032; ENSG00000127325. ENST00000551160; ENSP00000449377; ENSG00000127325.
GeneID	144453.
KEGG	hsa:144453.
UCSC	uc001svd.2. human. uc001svg.3. human.
Organism-specific databases
CTD	144453.
GeneCards	GC12M070037.
H-InvDB	HIX0010809.
HGNC	HGNC:17105. BEST3.
HPA	HPA054582.
MIM	607337. gene.
neXtProt	NX_Q8N1M1.
PharmGKB	PA162377503.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG315004.
HOGENOM	HOG000115678.
HOVERGEN	HBG080894.
InParanoid	Q8N1M1.
KO	K13880.
OMA	LSTIRET.
OrthoDB	EOG4Q84X2.
PhylomeDB	Q8N1M1.
Gene expression databases
ArrayExpress	Q8N1M1.
Bgee	Q8N1M1.
CleanEx	HS_BEST3.
Genevestigator	Q8N1M1.
GermOnline	ENSG00000127325. Homo sapiens.
Family and domain databases
InterPro	IPR000615. Bestrophin. IPR021134. Bestrophin/UPF0187. [Graphical view]
PANTHER	PTHR10736. PTHR10736. 1 hit.
Pfam	PF01062. Bestrophin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	144453.
NextBio	84929.
SOURCE	Search...

Entry information

Entry name

BEST3_HUMAN

Accession

Primary (citable) accession number: Q8N1M1
Secondary accession number(s): Q53YQ7 , Q8N356, Q8NFT9, Q9BR80

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 21, 2003
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 98 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.