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Q9H0Q3 (FXYD6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
FXYD domain-containing ion transport regulator 6
Alternative name(s):
Phosphohippolin
Gene names
Name:FXYD6
ORF Names:UNQ521/PRO1056
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length95 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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 processIon transport
Transport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
   DiseaseSchizophrenia
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionIon channel
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_procession transmembrane transport

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from direct assay. Source: LIFEdb

   Molecular_functionion 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 9577FXYD domain-containing ion transport regulator 6
PRO_0000010372

Regions

Topological domain19 – 3517Extracellular Potential
Transmembrane36 – 5823Helical; Potential
Topological domain59 – 9537Cytoplasmic Potential

Natural variations

Alternative sequence58 – 9538SRRCK…QKAEN → RPQEMRKPRWRTSSPPMQQS PRKQRTEVQPSGGRRQPQGG RGPVLLWQKIPLWGQ in isoform 2.
VSP_045996

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 3F083146A42422CE

FASTA9510,542
        10         20         30         40         50         60 
MELVLVFLCS LLAPMVLASA AEKEKEMDPF HYDYQTLRIG GLVFAVVLFS VGILLILSRR 

        70         80         90 
CKCSFNQKPR APGDEEAQVE NLITANATEP QKAEN 

« Hide

Isoform 2 [UniParc].

Checksum: 8DA3A17AA5C551D1
Show »

FASTA11212,769

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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.
CCDSCCDS8387.1. [Q9H0Q3-1]
RefSeqNP_001158303.1. NM_001164831.2. [Q9H0Q3-1]
NP_001158304.1. NM_001164832.2. [Q9H0Q3-1]
NP_001158308.1. NM_001164836.2. [Q9H0Q3-1]
NP_001158309.1. NM_001164837.2. [Q9H0Q3-1]
NP_001230527.1. NM_001243598.2. [Q9H0Q3-2]
NP_071286.1. NM_022003.3. [Q9H0Q3-1]
UniGeneHs.744850.

3D structure databases

ProteinModelPortalQ9H0Q3.
SMRQ9H0Q3. Positions 28-58.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119799. 13 interactions.
IntActQ9H0Q3. 16 interactions.
MINTMINT-1372177.
STRING9606.ENSP00000260282.

Protein family/group databases

TCDB1.A.27.1.3. the phospholemman (plm) family.

PTM databases

PhosphoSiteQ9H0Q3.

Polymorphism databases

DMDM20138342.

Proteomic databases

MaxQBQ9H0Q3.
PaxDbQ9H0Q3.
PRIDEQ9H0Q3.

Protocols and materials databases

DNASU53826.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000260282; ENSP00000260282; ENSG00000137726. [Q9H0Q3-1]
ENST00000524656; ENSP00000431427; ENSG00000137726. [Q9H0Q3-1]
ENST00000526014; ENSP00000433312; ENSG00000137726. [Q9H0Q3-1]
ENST00000527717; ENSP00000431446; ENSG00000137726. [Q9H0Q3-1]
ENST00000530956; ENSP00000463158; ENSG00000137726. [Q9H0Q3-1]
ENST00000539526; ENSP00000442756; ENSG00000137726. [Q9H0Q3-1]
ENST00000540359; ENSP00000444243; ENSG00000137726. [Q9H0Q3-1]
GeneID100533181.
53826.
KEGGhsa:100533181.
hsa:53826.
UCSCuc001pro.2. human. [Q9H0Q3-1]

Organism-specific databases

CTD100533181.
53826.
GeneCardsGC11M117741.
HGNCHGNC:4030. FXYD6.
HPAHPA041334.
MIM181500. phenotype.
603342. phenotype.
606683. gene.
neXtProtNX_Q9H0Q3.
Orphanet3140. Schizophrenia.
PharmGKBPA28446.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40995.
HOGENOMHOG000234467.
HOVERGENHBG008212.
InParanoidQ9H0Q3.
KOK13363.
OMARERRNDW.
OrthoDBEOG72NRRZ.
PhylomeDBQ9H0Q3.
TreeFamTF333443.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9H0Q3.
BgeeQ9H0Q3.
CleanExHS_FXYD6.
GenevestigatorQ9H0Q3.

Family and domain databases

InterProIPR000272. Ion-transport_regulator_FXYD.
[Graphical view]
PfamPF02038. ATP1G1_PLM_MAT8. 1 hit.
[Graphical view]
ProDomPD005989. PD005989. 1 hit.
[Graphical view] [Entries sharing at least one domain]
PROSITEPS01310. FXYD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio35536565.
PROQ9H0Q3.
SOURCESearch...

Entry information

Entry nameFXYD6_HUMAN
AccessionPrimary (citable) accession number: Q9H0Q3
Secondary accession number(s): A8K0R4 expand/collapse secondary AC list , J3QLD2, Q6FIG9, Q6UW52
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM