Q9H0Q3 (FXYD6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
FXYD domain-containing ion transport regulator 6

Alternative name(s):
Phosphohippolin

Gene names

Name:	FXYD6
ORF Names:	UNQ521/PRO1056

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	95 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Single-pass type I membrane protein Potential.
Involvement in disease	Schizophrenia 2 (SCZD2) [MIM:603342]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.11
Sequence similarities	Belongs to the FXYD family.
Sequence caution	The sequence AAQ89335.1 differs from that shown. Reason: Frameshift at position 93.

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Disease	Schizophrenia
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Ion channel
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ion transmembrane transport Traceable author statement. Source: Reactome
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from direct assay. Source: LIFEdb
Molecular_function	ion channel activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q9H0Q3-1)

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: Q9H0Q3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     58-95: SRRCKCSFNQ...NATEPQKAEN → RPQEMRKPRW...LWQKIPLWGQ

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 18	18	Potential
	Chain	19 – 95	77	FXYD domain-containing ion transport regulator 6		PRO_0000010372
Regions
	Topological domain	19 – 35	17	Extracellular Potential
	Transmembrane	36 – 58	23	Helical; Potential
	Topological domain	59 – 95	37	Cytoplasmic Potential
Natural variations
	Alternative sequence	58 – 95	38	SRRCK…QKAEN → RPQEMRKPRWRTSSPPMQQS PRKQRTEVQPSGGRRQPQGG RGPVLLWQKIPLWGQ in isoform 2.		VSP_045996

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 3F083146A42422CE	FASTA	95	10,542
	10 20 30 40 50 60 MELVLVFLCS LLAPMVLASA AEKEKEMDPF HYDYQTLRIG GLVFAVVLFS VGILLILSRR 70 80 90 CKCSFNQKPR APGDEEAQVE NLITANATEP QKAEN
	Isoform 2 [UniParc]. Checksum: 8DA3A17AA5C551D1	FASTA	112	12,769
	10 20 30 40 50 60 MELVLVFLCS LLAPMVLASA AEKEKEMDPF HYDYQTLRIG GLVFAVVLFS VGILLILRPQ 70 80 90 100 110 EMRKPRWRTS SPPMQQSPRK QRTEVQPSGG RRQPQGGRGP VLLWQKIPLW GQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation." Brandenberger R., Wei H., Zhang S., Lei S., Murage J., Fisk G.J., Li Y., Xu C., Fang R., Guegler K., Rao M.S., Mandalam R., Lebkowski J., Stanton L.W. Nat. Biotechnol. 22:707-716(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Embryonic stem cell.
[5]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]	"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 1). Tissue: Amygdala.
[7]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Lymph node.
[8]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	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].
[10]	"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 1). Tissue: Lung and Uterus.
[11]	"A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia." Choudhury K., McQuillin A., Puri V., Pimm J., Datta S., Thirumalai S., Krasucki R., Lawrence J., Bass N.J., Quested D., Crombie C., Fraser G., Walker N., Nadeem H., Johnson S., Curtis D., St Clair D., Gurling H.M.D. Am. J. Hum. Genet. 80:664-672(2007) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SCZD2.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL136699 mRNA. Translation: CAB66634.1. AY358976 mRNA. Translation: AAQ89335.1. Frameshift. BT006717 mRNA. Translation: AAP35363.1. CN310658 mRNA. No translation available. CR533457 mRNA. Translation: CAG38488.1. AK289629 mRNA. Translation: BAF82318.1. AK290757 mRNA. Translation: BAF83446.1. AL832811 mRNA. Translation: CAI46171.1. AP000757 Genomic DNA. No translation available. CH471065 Genomic DNA. Translation: EAW67327.1. BC018652 mRNA. Translation: AAH18652.1. BC093040 mRNA. Translation: AAH93040.1.
IPI	IPI00004367.
RefSeq	NP_001158303.1. NM_001164831.2. NP_001158304.1. NM_001164832.2. NP_001158308.1. NM_001164836.2. NP_001158309.1. NM_001164837.2. NP_001230527.1. NM_001243598.2. NP_071286.1. NM_022003.3.
UniGene	Hs.413137.
3D structure databases
ProteinModelPortal	Q9H0Q3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H0Q3. 14 interactions.
MINT	MINT-1372177.
STRING	9606.ENSP00000260282.
Protein family/group databases
TCDB	1.A.27.1.3. phospholemman (PLM) family.
PTM databases
PhosphoSite	Q9H0Q3.
Polymorphism databases
DMDM	20138342.
Proteomic databases
PaxDb	Q9H0Q3.
PRIDE	Q9H0Q3.
Protocols and materials databases
DNASU	53826.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000260282; ENSP00000260282; ENSG00000137726. ENST00000524656; ENSP00000431427; ENSG00000137726. ENST00000526014; ENSP00000433312; ENSG00000137726. ENST00000527717; ENSP00000431446; ENSG00000137726. ENST00000530956; ENSP00000463158; ENSG00000137726. ENST00000539526; ENSP00000442756; ENSG00000137726. ENST00000540359; ENSP00000444243; ENSG00000137726.
GeneID	100533181. 53826.
KEGG	hsa:100533181. hsa:53826.
UCSC	uc001pro.2. human.
Organism-specific databases
CTD	53826.
GeneCards	GC11M117741.
HGNC	HGNC:4030. FXYD6.
HPA	HPA041334.
MIM	181500. phenotype. 603342. phenotype. 606683. gene.
neXtProt	NX_Q9H0Q3.
Orphanet	3140. Schizophrenia.
PharmGKB	PA28446.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40995.
HOGENOM	HOG000234467.
HOVERGEN	HBG008212.
InParanoid	Q9H0Q3.
KO	K13363.
OrthoDB	EOG4PG62F.
PhylomeDB	Q9H0Q3.
Gene expression databases
ArrayExpress	Q9H0Q3.
Bgee	Q9H0Q3.
CleanEx	HS_FXYD6.
Genevestigator	Q9H0Q3.
GermOnline	ENSG00000137726. Homo sapiens.
Family and domain databases
InterPro	IPR000272. Ion-transport_regulator_FXYD. [Graphical view]
Pfam	PF02038. ATP1G1_PLM_MAT8. 1 hit. [Graphical view]
ProDom	PD005989. PD005989. 1 hit. [Graphical view] [Entries sharing at least one domain]
PROSITE	PS01310. FXYD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	100533181.
NextBio	35536565.
SOURCE	Search...

Entry information

Entry name

FXYD6_HUMAN

Accession

Primary (citable) accession number: Q9H0Q3
Secondary accession number(s): A8K0R4 , J3QLD2, Q6FIG9, Q6UW52

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2002
Last sequence update:	March 1, 2001
Last modified:	May 29, 2013
This is version 107 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.