Q5XXA6 (ANO1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Anoctamin-1

Alternative name(s):
Discovered on gastrointestinal stromal tumors protein 1
Oral cancer overexpressed protein 2
Transmembrane protein 16A
Tumor-amplified and overexpressed sequence 2

Gene names

Name:	ANO1
Synonyms:	DOG1, ORAOV2, TAOS2, TMEM16A

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	986 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Acts as a calcium-activated chloride channel. Required for normal tracheal development By similarity.
Subcellular location	Cell membrane; Multi-pass membrane protein. Cytoplasm Ref.5 Ref.6.
Tissue specificity	Broadly expressed with higher levels in liver and skeletal muscle. Ref.1 Ref.5
Domain	The region spanning the fifth and sixth transmembrane domains probably forms the pore-forming region By similarity.
Sequence similarities	Belongs to the anoctamin family.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell membrane Cytoplasm Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Calcium Chloride
Molecular function	Chloride channel Developmental protein Ionic channel
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membrane Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	intracellular calcium activated chloride channel activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5XXA6-1)

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: Q5XXA6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-116: Missing.
     448-451: Missing.
     476-501: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q5XXA6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.
     29-36: GYLPSEGT → MLTRPSQV
     448-451: Missing.
     476-501: Missing.
     651-700: CAPGGCLMEL...RYLKLKQQSP → VTEILFISGS...SFLLETFLFP
     701-986: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 986	986	Anoctamin-1		PRO_0000288435
Regions
	Topological domain	1 – 333	333	Cytoplasmic Potential
	Transmembrane	334 – 354	21	Helical; Potential
	Topological domain	355 – 402	48	Extracellular Potential
	Transmembrane	403 – 423	21	Helical; Potential
	Topological domain	424 – 519	96	Cytoplasmic Potential
	Transmembrane	520 – 540	21	Helical; Potential
	Topological domain	541 – 565	25	Extracellular Potential
	Transmembrane	566 – 586	21	Helical; Potential
	Topological domain	587 – 606	20	Cytoplasmic Potential
	Transmembrane	607 – 627	21	Helical; Potential
	Topological domain	628 – 731	104	Extracellular Potential
	Transmembrane	732 – 752	21	Helical; Potential
	Topological domain	753 – 791	39	Cytoplasmic Potential
	Transmembrane	792 – 812	21	Helical; Potential
	Topological domain	813 – 882	70	Extracellular Potential
	Transmembrane	883 – 903	21	Helical; Potential
	Topological domain	904 – 986	83	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	832	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 116	116	Missing in isoform 2.		VSP_025665
	Alternative sequence	1 – 28	28	Missing in isoform 3.		VSP_025666
	Alternative sequence	29 – 36	8	GYLPSEGT → MLTRPSQV in isoform 3.		VSP_025667
	Alternative sequence	448 – 451	4	Missing in isoform 2 and isoform 3.		VSP_025668
	Alternative sequence	476 – 501	26	Missing in isoform 2 and isoform 3.		VSP_025669
	Alternative sequence	651 – 700	50	CAPGG…KQQSP → VTEILFISGSPFCLAYDLST PCTWEKQLQHICSAKSSRFL SFLLETFLFP in isoform 3.		VSP_025670
	Alternative sequence	701 – 986	286	Missing in isoform 3.		VSP_025671
	Natural variant	608	1	F → S. Corresponds to variant rs2186797 [ dbSNP | Ensembl ].		VAR_032417
	Natural variant	983	1	G → R. Corresponds to variant rs3740722 [ dbSNP | Ensembl ].		VAR_032418
Experimental info
	Sequence conflict	202	1	T → A in BAF85777. Ref.2
	Sequence conflict	801	1	N → D in AAH33036. Ref.3
	Sequence conflict	948	1	W → C in AAH33036. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 23, 2004. Version 1. Checksum: E30A02F91EF36FC2	FASTA	986	114,078
	10 20 30 40 50 60 MRVNEKYSTL PAEDRSVHII NICAIEDIGY LPSEGTLLNS LSVDPDAECK YGLYFRDGRR 70 80 90 100 110 120 KVDYILVYHH KRPSGNRTLV RRVQHSDTPS GARSVKQDHP LPGKGASLDA GSGEPPMDYH 130 140 150 160 170 180 EDDKRFRREE YEGNLLEAGL ELERDEDTKI HGVGFVKIHA PWNVLCREAE FLKLKMPTKK 190 200 210 220 230 240 MYHINETRGL LKKINSVLQK ITDPIQPKVA EHRPQTMKRL SYPFSREKQH LFDLSDKDSF 250 260 270 280 290 300 FDSKTRSTIV YEILKRTTCT KAKYSMGITS LLANGVYAAA YPLHDGDYNG ENVEFNDRKL 310 320 330 340 350 360 LYEEWARYGV FYKYQPIDLV RKYFGEKIGL YFAWLGVYTQ MLIPASIVGI IVFLYGCATM 370 380 390 400 410 420 DENIPSMEMC DQRHNITMCP LCDKTCSYWK MSSACATARA SHLFDNPATV FFSVFMALWA 430 440 450 460 470 480 ATFMEHWKRK QMRLNYRWDL TGFEEEEEAV KDHPRAEYEA RVLEKSLKKE SRNKEKRRHI 490 500 510 520 530 540 PEESTNKWKQ RVKTAMAGVK LTDKVKLTWR DRFPAYLTNL VSIIFMIAVT FAIVLGVIIY 550 560 570 580 590 600 RISMAAALAM NSSPSVRSNI RVTVTATAVI INLVVIILLD EVYGCIARWL TKIEVPKTEK 610 620 630 640 650 660 SFEERLIFKA FLLKFVNSYT PIFYVAFFKG RFVGRPGDYV YIFRSFRMEE CAPGGCLMEL 670 680 690 700 710 720 CIQLSIIMLG KQLIQNNLFE IGIPKMKKLI RYLKLKQQSP PDHEECVKRK QRYEVDYNLE 730 740 750 760 770 780 PFAGLTPEYM EMIIQFGFVT LFVASFPLAP LFALLNNIIE IRLDAKKFVT ELRRPVAVRA 790 800 810 820 830 840 KDIGIWYNIL RGIGKLAVII NAFVISFTSD FIPRLVYLYM YSKNGTMHGF VNHTLSSFNV 850 860 870 880 890 900 SDFQNGTAPN DPLDLGYEVQ ICRYKDYREP PWSENKYDIS KDFWAVLAAR LAFVIVFQNL 910 920 930 940 950 960 VMFMSDFVDW VIPDIPKDIS QQIHKEKVLM VELFMREEQD KQQLLETWME KERQKDEPPC 970 980 NHHNTKACPD SLGSPAPSHA YHGGVL
	Isoform 2 [UniParc]. Checksum: 43B0D18B6FD82C3A	FASTA	840	97,736
	10 20 30 40 50 60 MDYHEDDKRF RREEYEGNLL EAGLELERDE DTKIHGVGFV KIHAPWNVLC REAEFLKLKM 70 80 90 100 110 120 PTKKMYHINE TRGLLKKINS VLQKITDPIQ PKVAEHRPQT MKRLSYPFSR EKQHLFDLSD 130 140 150 160 170 180 KDSFFDSKTR STIVYEILKR TTCTKAKYSM GITSLLANGV YAAAYPLHDG DYNGENVEFN 190 200 210 220 230 240 DRKLLYEEWA RYGVFYKYQP IDLVRKYFGE KIGLYFAWLG VYTQMLIPAS IVGIIVFLYG 250 260 270 280 290 300 CATMDENIPS MEMCDQRHNI TMCPLCDKTC SYWKMSSACA TARASHLFDN PATVFFSVFM 310 320 330 340 350 360 ALWAATFMEH WKRKQMRLNY RWDLTGFEEE EDHPRAEYEA RVLEKSLKKE SRNKETDKVK 370 380 390 400 410 420 LTWRDRFPAY LTNLVSIIFM IAVTFAIVLG VIIYRISMAA ALAMNSSPSV RSNIRVTVTA 430 440 450 460 470 480 TAVIINLVVI ILLDEVYGCI ARWLTKIEVP KTEKSFEERL IFKAFLLKFV NSYTPIFYVA 490 500 510 520 530 540 FFKGRFVGRP GDYVYIFRSF RMEECAPGGC LMELCIQLSI IMLGKQLIQN NLFEIGIPKM 550 560 570 580 590 600 KKLIRYLKLK QQSPPDHEEC VKRKQRYEVD YNLEPFAGLT PEYMEMIIQF GFVTLFVASF 610 620 630 640 650 660 PLAPLFALLN NIIEIRLDAK KFVTELRRPV AVRAKDIGIW YNILRGIGKL AVIINAFVIS 670 680 690 700 710 720 FTSDFIPRLV YLYMYSKNGT MHGFVNHTLS SFNVSDFQNG TAPNDPLDLG YEVQICRYKD 730 740 750 760 770 780 YREPPWSENK YDISKDFWAV LAARLAFVIV FQNLVMFMSD FVDWVIPDIP KDISQQIHKE 790 800 810 820 830 840 KVLMVELFMR EEQDKQQLLE TWMEKERQKD EPPCNHHNTK ACPDSLGSPA PSHAYHGGVL
	Isoform 3 [UniParc]. Checksum: 6F7B524B54FD032B	FASTA	642	74,369
	10 20 30 40 50 60 MLTRPSQVLL NSLSVDPDAE CKYGLYFRDG RRKVDYILVY HHKRPSGNRT LVRRVQHSDT 70 80 90 100 110 120 PSGARSVKQD HPLPGKGASL DAGSGEPPMD YHEDDKRFRR EEYEGNLLEA GLELERDEDT 130 140 150 160 170 180 KIHGVGFVKI HAPWNVLCRE AEFLKLKMPT KKMYHINETR GLLKKINSVL QKITDPIQPK 190 200 210 220 230 240 VAEHRPQTMK RLSYPFSREK QHLFDLSDKD SFFDSKTRST IVYEILKRTT CTKAKYSMGI 250 260 270 280 290 300 TSLLANGVYA AAYPLHDGDY NGENVEFNDR KLLYEEWARY GVFYKYQPID LVRKYFGEKI 310 320 330 340 350 360 GLYFAWLGVY TQMLIPASIV GIIVFLYGCA TMDENIPSME MCDQRHNITM CPLCDKTCSY 370 380 390 400 410 420 WKMSSACATA RASHLFDNPA TVFFSVFMAL WAATFMEHWK RKQMRLNYRW DLTGFEEEED 430 440 450 460 470 480 HPRAEYEARV LEKSLKKESR NKETDKVKLT WRDRFPAYLT NLVSIIFMIA VTFAIVLGVI 490 500 510 520 530 540 IYRISMAAAL AMNSSPSVRS NIRVTVTATA VIINLVVIIL LDEVYGCIAR WLTKIEVPKT 550 560 570 580 590 600 EKSFEERLIF KAFLLKFVNS YTPIFYVAFF KGRFVGRPGD YVYIFRSFRM EEVTEILFIS 610 620 630 640 GSPFCLAYDL STPCTWEKQL QHICSAKSSR FLSFLLETFL FP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Comprehensive genome and transcriptome analysis of the 11q13 amplicon in human oral cancer and synteny to the 7F5 amplicon in murine oral carcinoma." Huang X., Godfrey T.E., Gooding W.E., McCarty K.S. Jr., Gollin S.M. Genes Chromosomes Cancer 45:1058-1069(2006) [PubMed: 16906560] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Testis and Uterus.
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis.
[4]	"FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products." Katoh M., Katoh M. Int. J. Oncol. 22:1375-1381(2003) [PubMed: 12739008] [Abstract] Cited for: IDENTIFICATION, TOPOLOGY.
[5]	"The novel marker, DOG1, is expressed ubiquitously in gastrointestinal stromal tumors irrespective of KIT or PDGFRA mutation status." West R.B., Corless C.L., Chen X., Rubin B.P., Subramanian S., Montgomery K., Zhu S., Ball C.A., Nielsen T.O., Patel R., Goldblum J.R., Brown P.O., Heinrich M.C., van de Rijn M. Am. J. Pathol. 165:107-113(2004) [PubMed: 15215166] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[6]	"Head and neck squamous cell carcinoma transcriptome analysis by comprehensive validated differential display." Carles A., Millon R., Cromer A., Ganguli G., Lemaire F., Young J., Wasylyk C., Muller D., Schultz I., Rabouel Y., Dembele D., Zhao C., Marchal P., Ducray C., Bracco L., Abecassis J., Poch O., Wasylyk B. Oncogene 25:1821-1831(2006) [PubMed: 16261155] [Abstract] Cited for: SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY728143 mRNA. Translation: AAU82085.1. AK097619 mRNA. Translation: BAC05123.1. AK293088 mRNA. Translation: BAF85777.1. BC033036 mRNA. Translation: AAH33036.2.
IPI	IPI00384668. IPI00395839. IPI00873502.
RefSeq	NP_060513.5. NM_018043.5.
UniGene	Hs.503074.
3D structure databases
ProteinModelPortal	Q5XXA6.
ModBase	Search...
Protein-protein interaction databases
STRING	Q5XXA6.
Protein family/group databases
TCDB	1.A.17.1.1. calcium-dependent chloride channel (Ca-ClC) family.
PTM databases
PhosphoSite	Q5XXA6.
Polymorphism databases
DMDM	74708278.
Proteomic databases
PRIDE	Q5XXA6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000355303; ENSP00000347454; ENSG00000131620.
GeneID	55107.
KEGG	hsa:55107.
UCSC	uc001opj.1. human. uc001opk.1. human.
Organism-specific databases
CTD	55107.
GeneCards	GC11P069925.
H-InvDB	HIX0009892.
HGNC	HGNC:21625. ANO1.
MIM	610108. gene.
neXtProt	NX_Q5XXA6.
PharmGKB	PA164715378.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00600000084299.
HOGENOM	HBG357842.
HOVERGEN	HBG069519.
InParanoid	Q5XXA6.
OMA	CIARWLT.
OrthoDB	EOG47SSD0.
PhylomeDB	Q5XXA6.
Gene expression databases
ArrayExpress	Q5XXA6.
Bgee	Q5XXA6.
CleanEx	HS_ANO1.
Genevestigator	Q5XXA6.
Family and domain databases
InterPro	IPR007632. Anoctamin. [Graphical view]
PANTHER	PTHR12308. DUF590. 1 hit.
Pfam	PF04547. Anoctamin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

ANO1_HUMAN

Accession

Primary (citable) accession number: Q5XXA6
Secondary accession number(s): A8KAM3, Q8IYY8, Q8N7V3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	November 23, 2004
Last modified:	January 25, 2012
This is version 62 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.