Q9HCE9 (ANO8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Anoctamin-8

Alternative name(s):
Transmembrane protein 16H

Gene names

Name:	ANO8
Synonyms:	KIAA1623, TMEM16H

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	1232 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Does not exhibit calcium-activated chloride channel (CaCC) activity.
Subcellular location	Cell membrane; Multi-pass membrane protein. Note: Shows predominantly an intracellular localization with a weak expression in the cell membrane. Ref.6 Ref.12
Tissue specificity	Expressed in embryonic stem cells, fetal brain and neural tissues. Ref.5
Miscellaneous	The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.
Sequence similarities	Belongs to the anoctamin family.
Sequence caution	The sequence BAB13449.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW intracellular Inferred from electronic annotation. Source: Compara plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9HCE9-1)

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 2 (identifier: Q9HCE9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1112-1114: TAL → HKL
     1115-1232: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1232	1232	Anoctamin-8		PRO_0000249003
Regions
	Topological domain	1 – 244	244	Extracellular Potential
	Transmembrane	245 – 265	21	Helical; Potential
	Topological domain	266 – 281	16	Cytoplasmic Potential
	Transmembrane	282 – 302	21	Helical; Potential
	Topological domain	303 – 356	54	Extracellular Potential
	Transmembrane	357 – 377	21	Helical; Potential
	Topological domain	378 – 400	23	Cytoplasmic Potential
	Transmembrane	401 – 421	21	Helical; Potential
	Topological domain	422 – 437	16	Extracellular Potential
	Transmembrane	438 – 458	21	Helical; Potential
	Topological domain	459 – 750	292	Cytoplasmic Potential
	Transmembrane	751 – 771	21	Helical; Potential
	Topological domain	772 – 807	36	Extracellular Potential
	Transmembrane	808 – 828	21	Helical; Potential
	Topological domain	829 – 841	13	Cytoplasmic Potential
	Transmembrane	842 – 862	21	Helical; Potential
	Topological domain	863 – 1232	370	Extracellular Potential
	Compositional bias	353 – 518	166	Leu-rich
	Compositional bias	533 – 580	48	Gly-rich
	Compositional bias	554 – 673	120	Glu-rich
	Compositional bias	1130 – 1222	93	Pro-rich
Natural variations
	Alternative sequence	1112 – 1114	3	TAL → HKL in isoform 2.		VSP_020351
	Alternative sequence	1115 – 1232	118	Missing in isoform 2.		VSP_020352

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 5, 2006. Version 3. Checksum: 1802BC3544A9234C	FASTA	1,232	136,034
	10 20 30 40 50 60 MAEAASGAGG TSLEGERGKR PPPEGEPAAP ASGVLDKLFG KRLLQAGRYL VSHKAWMKTV 70 80 90 100 110 120 PTENCDVLMT FPDTTDDHTL LWLLNHIRVG IPELIVQVRH HRHTRAYAFF VTATYESLLR 130 140 150 160 170 180 GADELGLRKA VKAEFGGGTR GFSCEEDFIY ENVESELRFF TSQERQSIIR FWLQNLRAKQ 190 200 210 220 230 240 GEALHNVRFL EDQPIIPELA ARGIIQQVFP VHEQRILNRL MKSWVQAVCE NQPLDDICDY 250 260 270 280 290 300 FGVKIAMYFA WLGFYTSAMV YPAVFGSVLY TFTEADQTSR DVSCVVFALF NVIWSTLFLE 310 320 330 340 350 360 EWKRRGAELA YKWGTLDSPG EAVEEPRPQF RGVRRISPIT RAEEFYYPPW KRLLFQLLVS 370 380 390 400 410 420 LPLCLACLVC VFLLMLGCFQ LQELVLSVKG LPRLARFLPK VMLALLVSVS AEGYKKLAIW 430 440 450 460 470 480 LNDMENYRLE SAYEKHLIIK VVLFQFVNSY LSLFYIGFYL KDMERLKEML ATLLITRQFL 490 500 510 520 530 540 QNVREVLQPH LYRRLGRGEL GLRAVWELAR ALLGLLSLRR PAPRRLEPQA DEGGGGGSGG 550 560 570 580 590 600 GGRRCLSGGC GAPEEEEEAA LVERRRAGEG GEEGDGPPGG KEEDEDDEEE EDEEEEEDEE 610 620 630 640 650 660 EGEEGGLLDC GLRLKKVSFA ERGAGRRRPG PSPEALLEEG SPTMVEKGLE PGVFTLAEED 670 680 690 700 710 720 DEAEGAPGSP EREPPAILFR RAGGEGRDQG PDGGPDPEPG SNSDSTRRQR RQNRSSWIDP 730 740 750 760 770 780 PEEEHSPQLT QAELESCMKK YEDTFQDYQE MFVQFGYVVL FSSAFPLAAL CALVNNLIEI 790 800 810 820 830 840 RSDAFKLCTG LQRPFGQRVE SIGQWQKVME AMGVLAIVVN CYLIGQCGQL QRLFPWLSPE 850 860 870 880 890 900 AAIVSVVVLE HFALLLKYLI HVAIPDIPGW VAEEMAKLEY QRREAFKRHE RQAQHRYQQQ 910 920 930 940 950 960 QRRRREEEER QRHAEHHARR EHDSGGREEA RAEGSGLDPA TSSEKASAKA KGSTAGGHGP 970 980 990 1000 1010 1020 ERPKRPGSLL APNNVMKLKQ IIPLQGKFLS SGATSSLAAA GAGATTRPPP AQSPTGSDTR 1030 1040 1050 1060 1070 1080 LPAFLSFKFL KSPETRRDSE RSHSPPKAFH AGKLFPFGGT RAEPGSNGAG GQARPDGTPS 1090 1100 1110 1120 1130 1140 SGSSRVQRSG PVDEALAEEL EAPRPEEEGS GTALAPVGAP ALRTRRSRSP APPPPMPLPR 1150 1160 1170 1180 1190 1200 PPTPPAGCWQ WDGPWGCGGE GAAPRQALAA AECPPCAMAG PPPAPQPLPG DASFYSLPPP 1210 1220 1230 PLPPTSDPLE TPAPSPSPSP SPQAVCWPSG WH
	Isoform 2 [UniParc]. Checksum: 7BA90E3E817E4110	FASTA	1,114	124,151
	10 20 30 40 50 60 MAEAASGAGG TSLEGERGKR PPPEGEPAAP ASGVLDKLFG KRLLQAGRYL VSHKAWMKTV 70 80 90 100 110 120 PTENCDVLMT FPDTTDDHTL LWLLNHIRVG IPELIVQVRH HRHTRAYAFF VTATYESLLR 130 140 150 160 170 180 GADELGLRKA VKAEFGGGTR GFSCEEDFIY ENVESELRFF TSQERQSIIR FWLQNLRAKQ 190 200 210 220 230 240 GEALHNVRFL EDQPIIPELA ARGIIQQVFP VHEQRILNRL MKSWVQAVCE NQPLDDICDY 250 260 270 280 290 300 FGVKIAMYFA WLGFYTSAMV YPAVFGSVLY TFTEADQTSR DVSCVVFALF NVIWSTLFLE 310 320 330 340 350 360 EWKRRGAELA YKWGTLDSPG EAVEEPRPQF RGVRRISPIT RAEEFYYPPW KRLLFQLLVS 370 380 390 400 410 420 LPLCLACLVC VFLLMLGCFQ LQELVLSVKG LPRLARFLPK VMLALLVSVS AEGYKKLAIW 430 440 450 460 470 480 LNDMENYRLE SAYEKHLIIK VVLFQFVNSY LSLFYIGFYL KDMERLKEML ATLLITRQFL 490 500 510 520 530 540 QNVREVLQPH LYRRLGRGEL GLRAVWELAR ALLGLLSLRR PAPRRLEPQA DEGGGGGSGG 550 560 570 580 590 600 GGRRCLSGGC GAPEEEEEAA LVERRRAGEG GEEGDGPPGG KEEDEDDEEE EDEEEEEDEE 610 620 630 640 650 660 EGEEGGLLDC GLRLKKVSFA ERGAGRRRPG PSPEALLEEG SPTMVEKGLE PGVFTLAEED 670 680 690 700 710 720 DEAEGAPGSP EREPPAILFR RAGGEGRDQG PDGGPDPEPG SNSDSTRRQR RQNRSSWIDP 730 740 750 760 770 780 PEEEHSPQLT QAELESCMKK YEDTFQDYQE MFVQFGYVVL FSSAFPLAAL CALVNNLIEI 790 800 810 820 830 840 RSDAFKLCTG LQRPFGQRVE SIGQWQKVME AMGVLAIVVN CYLIGQCGQL QRLFPWLSPE 850 860 870 880 890 900 AAIVSVVVLE HFALLLKYLI HVAIPDIPGW VAEEMAKLEY QRREAFKRHE RQAQHRYQQQ 910 920 930 940 950 960 QRRRREEEER QRHAEHHARR EHDSGGREEA RAEGSGLDPA TSSEKASAKA KGSTAGGHGP 970 980 990 1000 1010 1020 ERPKRPGSLL APNNVMKLKQ IIPLQGKFLS SGATSSLAAA GAGATTRPPP AQSPTGSDTR 1030 1040 1050 1060 1070 1080 LPAFLSFKFL KSPETRRDSE RSHSPPKAFH AGKLFPFGGT RAEPGSNGAG GQARPDGTPS 1090 1100 1110 SGSSRVQRSG PVDEALAEEL EAPRPEEEGS GHKL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION.
[3]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Identification and characterization of TMEM16H gene in silico." Katoh M., Katoh M. Int. J. Mol. Med. 15:353-358(2005) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
[6]	"Expression and function of epithelial anoctamins." Schreiber R., Uliyakina I., Kongsuphol P., Warth R., Mirza M., Martins J.R., Kunzelmann K. J. Biol. Chem. 285:7838-7845(2010) [PubMed] [Europe PMC] [Abstract] Cited for: ABSENCE OF CALCIUM-ACTIVATED CHLORIDE CHANNEL ACTIVITY, SUBCELLULAR LOCATION.
[7]	"Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?" Duran C., Hartzell H.C. Acta Pharmacol. Sin. 32:685-692(2011) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW.
[8]	"CFTR and TMEM16A are separate but functionally related Cl-channels." Ousingsawat J., Kongsuphol P., Schreiber R., Kunzelmann K. Cell. Physiol. Biochem. 28:715-724(2011) [PubMed] [Europe PMC] [Abstract] Cited for: ABSENCE OF CALCIUM-ACTIVATED CHLORIDE CHANNEL ACTIVITY.
[9]	"Anoctamins." Kunzelmann K., Tian Y., Martins J.R., Faria D., Kongsuphol P., Ousingsawat J., Thevenod F., Roussa E., Rock J., Schreiber R. Pflugers Arch. 462:195-208(2011) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW.
[10]	"The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age." Winpenny J.P., Gray M.A. Exp. Physiol. 97:175-176(2012) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW.
[11]	"The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels." Scudieri P., Sondo E., Ferrera L., Galietta L.J. Exp. Physiol. 97:177-183(2012) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW, ABSENCE OF CALCIUM-ACTIVATED CHLORIDE CHANNEL ACTIVITY.
[12]	"Anoctamins are a family of Ca2+ activated Cl- channels." Tian Y., Schreiber R., Kunzelmann K. J. Cell Sci. 125:4991-4998(2012) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB046843 mRNA. Translation: BAB13449.2. Different initiation. AC010463 Genomic DNA. No translation available. CH471106 Genomic DNA. Translation: EAW84595.1.
IPI	IPI00288964. IPI00784797.
RefSeq	NP_066010.1. NM_020959.2.
UniGene	Hs.590990.
3D structure databases
ProteinModelPortal	Q9HCE9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HCE9. 1 interaction.
STRING	9606.ENSP00000159087.
PTM databases
PhosphoSite	Q9HCE9.
Polymorphism databases
DMDM	114152287.
Proteomic databases
PaxDb	Q9HCE9.
PRIDE	Q9HCE9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000159087; ENSP00000159087; ENSG00000074855.
GeneID	57719.
KEGG	hsa:57719.
UCSC	uc002ngf.2. human.
Organism-specific databases
CTD	57719.
GeneCards	GC19M017434.
HGNC	HGNC:29329. ANO8.
HPA	HPA049206.
MIM	610216. gene.
neXtProt	NX_Q9HCE9.
PharmGKB	PA164715790.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG300207.
HOGENOM	HOG000033952.
HOVERGEN	HBG100443.
InParanoid	Q9HCE9.
OMA	PAGCWQW.
OrthoDB	EOG41JZBJ.
Gene expression databases
Bgee	Q9HCE9.
CleanEx	HS_ANO8.
Genevestigator	Q9HCE9.
GermOnline	ENSG00000074855. Homo sapiens.
Family and domain databases
InterPro	IPR007632. Anoctamin. [Graphical view]
PANTHER	PTHR12308. PTHR12308. 1 hit.
Pfam	PF04547. Anoctamin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57719.
NextBio	64654.
SOURCE	Search...

Entry information

Entry name

ANO8_HUMAN

Accession

Primary (citable) accession number: Q9HCE9
Secondary accession number(s): A6NIJ0

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 5, 2006
Last sequence update:	September 5, 2006
Last modified:	April 3, 2013
This is version 76 of the entry and version 3 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.