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Q14802

- FXYD3_HUMAN

UniProt

Q14802 - FXYD3_HUMAN

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Protein
FXYD domain-containing ion transport regulator 3
Gene
FXYD3, MAT8, PLML
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. chloride channel activity Source: ProtInc

GO - Biological processi

  1. chloride transmembrane transport Source: GOC
  2. chloride transport Source: ProtInc
  3. ion transmembrane transport Source: Reactome
  4. regulation of catalytic activity Source: Ensembl
  5. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_25149. Ion transport by P-type ATPases.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:FXYD3
Synonyms:MAT8, PLML
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:4027. FXYD3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini21 – 3818Extracellular Reviewed prediction
Add
BLAST
Transmembranei39 – 5921Helical; Reviewed prediction
Add
BLAST
Topological domaini60 – 8728Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. chloride channel complex Source: UniProtKB-KW
  2. endoplasmic reticulum membrane Source: Ensembl
  3. extracellular vesicular exosome Source: UniProt
  4. integral component of plasma membrane Source: ProtInc
  5. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28443.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020 Reviewed prediction
Add
BLAST
Chaini21 – 8767FXYD domain-containing ion transport regulator 3
PRO_0000010362Add
BLAST

Proteomic databases

MaxQBiQ14802.
PaxDbiQ14802.
PRIDEiQ14802.

Expressioni

Tissue specificityi

Expressed in a subset of human breast tumors.

Gene expression databases

ArrayExpressiQ14802.
BgeeiQ14802.
CleanExiHS_FXYD3.
GenevestigatoriQ14802.

Organism-specific databases

HPAiHPA010856.

Interactioni

Protein-protein interaction databases

BioGridi111364. 6 interactions.
IntActiQ14802. 7 interactions.
MINTiMINT-5004597.
STRINGi9606.ENSP00000389770.

Structurei

3D structure databases

ProteinModelPortaliQ14802.
SMRiQ14802. Positions 25-87.

Family & Domainsi

Sequence similaritiesi

Belongs to the FXYD family.

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG40508.
HOGENOMiHOG000234469.
HOVERGENiHBG008212.
KOiK13361.
OMAiFIPLRTH.
OrthoDBiEOG7H7956.
PhylomeDBiQ14802.
TreeFamiTF333443.

Family and domain databases

InterProiIPR000272. Ion-transport_regulator_FXYD.
[Graphical view]
PfamiPF02038. ATP1G1_PLM_MAT8. 1 hit.
[Graphical view]
ProDomiPD005989. PD005989. 1 hit.
[Graphical view] [Entries sharing at least one domain]
PROSITEiPS01310. FXYD. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q14802-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MQKVTLGLLV FLAGFPVLDA NDLEDKNSPF YYDWHSLQVG GLICAGVLCA   50
MGIIIVMSAK CKCKFGQKSG HHPGETPPLI TPGSAQS 87
Length:87
Mass (Da):9,263
Last modified:November 1, 1996 - v1
Checksum:i6D674D668EB32493
GO
Isoform 2 (identifier: Q14802-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-58: S → SEWRSSGEQAGRGWGSPPLTTQLSPTG

Show »
Length:113
Mass (Da):11,988
Checksum:i76E2065D324DD3FB
GO
Isoform 3 (identifier: Q14802-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGRGYSGALQARGGLEEPLERGLRGPSFTQSPLHGAAAAYLSAQRDASLPVPGQRSDM

Note: No experimental confirmation available.

Show »
Length:144
Mass (Da):15,154
Checksum:i7046A16E5C9011DE
GO
Isoform 4 (identifier: Q14802-4) [UniParc]FASTAAdd to Basket

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.

Show »
Length:96
Mass (Da):10,280
Checksum:iC6D6FB0FB15FC085
GO
Isoform 5 (identifier: Q14802-5) [UniParc]FASTAAdd to Basket

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.

Show »
Length:61
Mass (Da):6,718
Checksum:i22954B2FECB88A28
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401G → S.
Corresponds to variant rs35578165 [ dbSNP | Ensembl ].
VAR_049109

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MGRGYSGALQARGGLEEPLE RGLRGPSFTQSPLHGAAAAY LSAQRDASLPVPGQRSDM in isoform 3.
VSP_045716
Alternative sequencei33 – 8755DWHSL…GSAQS → GESPCPLSPPHNPTYCLVPR VPIQGWGLT in isoform 5.
VSP_047286Add
BLAST
Alternative sequencei58 – 581S → SEWRSSGEQAGRGWGSPPLT TQLSPTG in isoform 2 and isoform 4.
VSP_034598
Alternative sequencei71 – 8717Missing in isoform 4.
VSP_047287Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti36 – 372Missing in AAA73922. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS12442.1. [Q14802-1]
CCDS12443.1. [Q14802-2]
CCDS46048.1. [Q14802-3]
CCDS46049.1. [Q14802-4]
CCDS46050.1. [Q14802-5]
PIRiA55571.
RefSeqiNP_001129479.1. NM_001136007.1. [Q14802-3]
NP_001129480.1. NM_001136008.1. [Q14802-4]
NP_001129481.1. NM_001136009.1. [Q14802-5]
NP_001129482.1. NM_001136010.1. [Q14802-5]
NP_001129483.1. NM_001136011.1. [Q14802-1]
NP_001129484.1. NM_001136012.1. [Q14802-2]
NP_005962.1. NM_005971.3. [Q14802-1]
NP_068710.1. NM_021910.2. [Q14802-2]
XP_005259053.1. XM_005258996.2. [Q14802-2]
UniGeneiHs.301350.

Genome annotation databases

EnsembliENST00000344013; 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]
GeneIDi5349.
KEGGihsa:5349.
UCSCiuc002nxv.3. human. [Q14802-1]
uc002nxw.3. human. [Q14802-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS12442.1. [Q14802-1 ]
CCDS12443.1. [Q14802-2 ]
CCDS46048.1. [Q14802-3 ]
CCDS46049.1. [Q14802-4 ]
CCDS46050.1. [Q14802-5 ]
PIRi A55571.
RefSeqi NP_001129479.1. NM_001136007.1. [Q14802-3 ]
NP_001129480.1. NM_001136008.1. [Q14802-4 ]
NP_001129481.1. NM_001136009.1. [Q14802-5 ]
NP_001129482.1. NM_001136010.1. [Q14802-5 ]
NP_001129483.1. NM_001136011.1. [Q14802-1 ]
NP_001129484.1. NM_001136012.1. [Q14802-2 ]
NP_005962.1. NM_005971.3. [Q14802-1 ]
NP_068710.1. NM_021910.2. [Q14802-2 ]
XP_005259053.1. XM_005258996.2. [Q14802-2 ]
UniGenei Hs.301350.

3D structure databases

ProteinModelPortali Q14802.
SMRi Q14802. Positions 25-87.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111364. 6 interactions.
IntActi Q14802. 7 interactions.
MINTi MINT-5004597.
STRINGi 9606.ENSP00000389770.

Proteomic databases

MaxQBi Q14802.
PaxDbi Q14802.
PRIDEi Q14802.

Protocols and materials databases

DNASUi 5349.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000344013 ; 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 ]
GeneIDi 5349.
KEGGi hsa:5349.
UCSCi uc002nxv.3. human. [Q14802-1 ]
uc002nxw.3. human. [Q14802-2 ]

Organism-specific databases

CTDi 5349.
GeneCardsi GC19P035606.
HGNCi HGNC:4027. FXYD3.
HPAi HPA010856.
MIMi 604996. gene.
neXtProti NX_Q14802.
PharmGKBi PA28443.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40508.
HOGENOMi HOG000234469.
HOVERGENi HBG008212.
KOi K13361.
OMAi FIPLRTH.
OrthoDBi EOG7H7956.
PhylomeDBi Q14802.
TreeFami TF333443.

Enzyme and pathway databases

Reactomei REACT_25149. Ion transport by P-type ATPases.

Miscellaneous databases

ChiTaRSi FXYD3. human.
GeneWikii FXYD3.
GenomeRNAii 5349.
NextBioi 20732.
PROi Q14802.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14802.
Bgeei Q14802.
CleanExi HS_FXYD3.
Genevestigatori Q14802.

Family and domain databases

InterProi IPR000272. Ion-transport_regulator_FXYD.
[Graphical view ]
Pfami PF02038. ATP1G1_PLM_MAT8. 1 hit.
[Graphical view ]
ProDomi PD005989. PD005989. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
PROSITEi PS01310. FXYD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiFXYD3_HUMAN
AccessioniPrimary (citable) accession number: Q14802
Secondary accession number(s): A6NDE0
, C9JDU2, F5H174, F8WB34, Q13211, Q6IB59
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: September 3, 2014
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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