Q8NFU0 (BEST4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Bestrophin-4

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

Gene names

Name:	BEST4
Synonyms:	VMD2L2

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	473 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Forms calcium-sensitive chloride channels. Permeable to bicarbonate. Ref.2 Ref.5
Subcellular location	Cell membrane; Multi-pass membrane protein.
Tissue specificity	Predominantly found in colon and the weakly in fetal brain, spinal cord, retina, lung, trachea, testis and placenta. Ref.1
Sequence similarities	Belongs to the bestrophin family.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Calcium Chloride
Molecular function	Chloride channel Ion channel
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
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...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 473	473	Bestrophin-4		PRO_0000143120
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 – 285	36	Extracellular Potential
	Transmembrane	286 – 306	21	Helical; Potential
	Topological domain	307 – 473	167	Cytoplasmic Potential
Natural variations
	Natural variant	62	1	Y → C. Corresponds to variant rs16832245 [ dbSNP | Ensembl ].		VAR_048411
	Natural variant	217	1	Y → S. Corresponds to variant rs16832242 [ dbSNP | Ensembl ].		VAR_048412
	Natural variant	331	1	Q → E. Corresponds to variant rs16832241 [ dbSNP | Ensembl ].		VAR_048413
	Natural variant	402	1	R → L. Corresponds to variant rs16832239 [ dbSNP | Ensembl ].		VAR_048414

Sequences

	Sequence		Length	Mass (Da)
	Q8NFU0 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: A8538303EE258D65	FASTA	473	53,497
	10 20 30 40 50 60 MTVSYTLKVA EARFGGFSGL LLRWRGSIYK LLYKEFLLFG ALYAVLSITY RLLLTQEQRY 70 80 90 100 110 120 VYAQVARYCN RSADLIPLSF VLGFYVTLVV NRWWSQYTSI PLPDQLMCVI SASVHGVDQR 130 140 150 160 170 180 GRLLRRTLIR YANLASVLVL RSVSTRVLKR FPTMEHVVDA GFMSQEERKK FESLKSDFNK 190 200 210 220 230 240 YWVPCVWFTN LAAQARRDGR IRDDIALCLL LEELNKYRAK CSMLFHYDWI SIPLVYTQVV 250 260 270 280 290 300 TIAVYSFFAL SLVGRQFVEP EAGAAKPQKL LKPGQEPAPA LGDPDMYVPL TTLLQFFFYA 310 320 330 340 350 360 GWLKVAEQII NPFGEDDDDF ETNQLIDRNL QVSLLSVDEM YQNLPPAEKD QYWDEDQPQP 370 380 390 400 410 420 PYTVATAAES LRPSFLGSTF NLRMSDDPEQ SLQVEASPGS GRPAPAAQTP LLGRFLGVGA 430 440 450 460 470 PSPAISLRNF GRVRGTPRPP HLLRFRAEEG GDPEAAARIE EESAESGDEA LEP

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], 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], FUNCTION.
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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].
[5]	"Bestrophin Cl- channels are highly permeable to HCO3-." Qu Z., Hartzell H.C. Am. J. Physiol. 294:C1371-C1377(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF440757 mRNA. Translation: AAM76996.1. AY515707 mRNA. Translation: AAR99657.1. AL592166 Genomic DNA. Translation: CAI13005.1. BC101823 mRNA. Translation: AAI01824.1.
IPI	IPI00168902.
RefSeq	NP_695006.1. NM_153274.2.
UniGene	Hs.302513.
3D structure databases
ProteinModelPortal	Q8NFU0.
ModBase	Search...
Polymorphism databases
DMDM	38503352.
Proteomic databases
PaxDb	Q8NFU0.
PRIDE	Q8NFU0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372207; ENSP00000361281; ENSG00000142959.
GeneID	266675.
KEGG	hsa:266675.
UCSC	uc001cmm.3. human.
Organism-specific databases
CTD	266675.
GeneCards	GC01M045249.
HGNC	HGNC:17106. BEST4.
MIM	607336. gene.
neXtProt	NX_Q8NFU0.
PharmGKB	PA162377520.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG315004.
HOGENOM	HOG000115678.
HOVERGEN	HBG044928.
InParanoid	Q8NFU0.
KO	K13881.
OMA	VEEHMAK.
OrthoDB	EOG4K3KW9.
PhylomeDB	Q8NFU0.
Gene expression databases
Bgee	Q8NFU0.
CleanEx	HS_BEST4.
Genevestigator	Q8NFU0.
GermOnline	ENSG00000142959. 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	266675.
NextBio	93293.
SOURCE	Search...

Entry information

Entry name

BEST4_HUMAN

Accession

Primary (citable) accession number: Q8NFU0
Secondary accession number(s): Q5JR93

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 21, 2003
Last sequence update:	October 1, 2002
Last modified:	April 3, 2013
This is version 87 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.