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Q14802 (FXYD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
FXYD domain-containing ion transport regulator 3
Alternative name(s):
Chloride conductance inducer protein Mat-8
Mammary tumor 8 kDa protein
Phospholemman-like
Gene names
Name:FXYD3
Synonyms:MAT8, PLML
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length87 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Induces a hyperpolarization-activated chloride current when expressed in Xenopus oocytes. May be a modulator capable of activating endogenous oocyte channels.

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Tissue specificity

Expressed in a subset of human breast tumors.

Miscellaneous

Marker of a cell type preferentially transformed by neu or ras oncoprotein.

Sequence similarities

Belongs to the FXYD family.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q14802-1)

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: Q14802-2)

The sequence of this isoform differs from the canonical sequence as follows:
     58-58: S → SEWRSSGEQAGRGWGSPPLTTQLSPTG
Isoform 3 (identifier: Q14802-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGRGYSGALQARGGLEEPLERGLRGPSFTQSPLHGAAAAYLSAQRDASLPVPGQRSDM
Note: No experimental confirmation available.
Isoform 4 (identifier: Q14802-4)

The sequence of this isoform differs from the canonical sequence as follows:
     58-58: S → SEWRSSGEQAGRGWGSPPLTTQLSPTG
     71-87: Missing.
Note: No experimental confirmation available. Gene prediction based on EST data.
Isoform 5 (identifier: Q14802-5)

The sequence of this isoform differs from the canonical sequence as follows:
     33-87: DWHSLQVGGL...PLITPGSAQS → GESPCPLSPPHNPTYCLVPRVPIQGWGLT
Note: No experimental confirmation available. Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 8767FXYD domain-containing ion transport regulator 3
PRO_0000010362

Regions

Topological domain21 – 3818Extracellular Potential
Transmembrane39 – 5921Helical; Potential
Topological domain60 – 8728Cytoplasmic Potential

Natural variations

Alternative sequence11M → MGRGYSGALQARGGLEEPLE RGLRGPSFTQSPLHGAAAAY LSAQRDASLPVPGQRSDM in isoform 3.
VSP_045716
Alternative sequence33 – 8755DWHSL…GSAQS → GESPCPLSPPHNPTYCLVPR VPIQGWGLT in isoform 5.
VSP_047286
Alternative sequence581S → SEWRSSGEQAGRGWGSPPLT TQLSPTG in isoform 2 and isoform 4.
VSP_034598
Alternative sequence71 – 8717Missing in isoform 4.
VSP_047287
Natural variant401G → S.
Corresponds to variant rs35578165 [ dbSNP | Ensembl ].
VAR_049109

Experimental info

Sequence conflict36 – 372Missing in AAA73922. Ref.2

Sequences

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

Last modified November 1, 1996. Version 1.
Checksum: 6D674D668EB32493

FASTA879,263
        10         20         30         40         50         60 
MQKVTLGLLV FLAGFPVLDA NDLEDKNSPF YYDWHSLQVG GLICAGVLCA MGIIIVMSAK 

        70         80 
CKCKFGQKSG HHPGETPPLI TPGSAQS 

« Hide

Isoform 2 [UniParc].

Checksum: 76E2065D324DD3FB
Show »

FASTA11311,988
Isoform 3 [UniParc].

Checksum: 7046A16E5C9011DE
Show »

FASTA14415,154
Isoform 4 [UniParc].

Checksum: C6D6FB0FB15FC085
Show »

FASTA9610,280
Isoform 5 [UniParc].

Checksum: 22954B2FECB88A28
Show »

FASTA616,718

References

« Hide 'large scale' references
[1]"Mat-8, a novel phospholemman-like protein expressed in human breast tumors, induces a chloride conductance in Xenopus oocytes."
Morrison B.W., Moorman J.R., Kowdley G.C., Kobayashi Y.M., Jones L.R., Leder P.
J. Biol. Chem. 270:2176-2182(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Mammary gland.
[2]"Two novel cDNAs express specifically in RA-treated human lung adenocarcinoma cell line GLC-82."
Lei W., Wu M.
Submitted (JUL-1995) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Lung carcinoma.
[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]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]"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. expand/collapse author list , 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].
[6]"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] (ISOFORMS 1 AND 3).
Tissue: Melanoma and Urinary bladder.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X93036 mRNA. Translation: CAA63604.1.
U28249 mRNA. Translation: AAA73922.1.
BT006712 mRNA. Translation: AAP35358.1.
CR456945 mRNA. Translation: CAG33226.1.
CR542197 mRNA. Translation: CAG46994.1.
AC020907 Genomic DNA. No translation available.
BC005238 mRNA. Translation: AAH05238.1.
BC090044 mRNA. Translation: AAH90044.1.
BU157560 mRNA. No translation available.
PIRA55571.
RefSeqNP_001129479.1. NM_001136007.1.
NP_001129480.1. NM_001136008.1.
NP_001129481.1. NM_001136009.1.
NP_001129482.1. NM_001136010.1.
NP_001129483.1. NM_001136011.1.
NP_001129484.1. NM_001136012.1.
NP_005962.1. NM_005971.3.
NP_068710.1. NM_021910.2.
XP_005259053.1. XM_005258996.2.
UniGeneHs.301350.

3D structure databases

ProteinModelPortalQ14802.
SMRQ14802. Positions 25-87.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111364. 6 interactions.
IntActQ14802. 7 interactions.
MINTMINT-5004597.
STRING9606.ENSP00000389770.

Proteomic databases

PaxDbQ14802.
PRIDEQ14802.

Protocols and materials databases

DNASU5349.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000344013; ENSP00000339499; ENSG00000089356. [Q14802-1]
ENST00000346446; ENSP00000328259; ENSG00000089356. [Q14802-2]
ENST00000406242; ENSP00000385412; ENSG00000089356. [Q14802-4]
ENST00000406988; ENSP00000385200; ENSG00000089356. [Q14802-1]
ENST00000435734; ENSP00000389770; ENSG00000089356. [Q14802-2]
ENST00000454903; ENSP00000415449; ENSG00000089356. [Q14802-5]
ENST00000535103; ENSP00000443953; ENSG00000089356. [Q14802-3]
ENST00000603181; ENSP00000474851; ENSG00000089356. [Q14802-1]
ENST00000603449; ENSP00000474055; ENSG00000089356. [Q14802-5]
ENST00000604255; ENSP00000473929; ENSG00000089356. [Q14802-3]
ENST00000604404; ENSP00000474438; ENSG00000089356. [Q14802-1]
ENST00000604621; ENSP00000474526; ENSG00000089356. [Q14802-1]
ENST00000605552; ENSP00000474855; ENSG00000089356. [Q14802-5]
ENST00000605677; ENSP00000474622; ENSG00000089356. [Q14802-4]
GeneID5349.
KEGGhsa:5349.
UCSCuc002nxv.3. human. [Q14802-1]
uc002nxw.3. human. [Q14802-2]

Organism-specific databases

CTD5349.
GeneCardsGC19P035606.
HGNCHGNC:4027. FXYD3.
HPAHPA010856.
MIM604996. gene.
neXtProtNX_Q14802.
PharmGKBPA28443.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40508.
HOGENOMHOG000234469.
HOVERGENHBG008212.
KOK13361.
OMAPGSAHNC.
OrthoDBEOG7H7956.
PhylomeDBQ14802.
TreeFamTF333443.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ14802.
BgeeQ14802.
CleanExHS_FXYD3.
GenevestigatorQ14802.

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

ChiTaRSFXYD3. human.
GeneWikiFXYD3.
GenomeRNAi5349.
NextBio20732.
PROQ14802.
SOURCESearch...

Entry information

Entry nameFXYD3_HUMAN
AccessionPrimary (citable) accession number: Q14802
Secondary accession number(s): A6NDE0 expand/collapse secondary AC list , C9JDU2, F5H174, F8WB34, Q13211, Q6IB59
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: April 16, 2014
This is version 125 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM