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FXYD3

FXYD3
Identifiers
AliasesFXYD3, MAT8, PLML, FXYD domain containing ion transport regulator 3
External IDsOMIM: 604996; MGI: 107497; GeneCards: FXYD3
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

5349

17178

Ensembl

ENSG00000089356

ENSMUSG00000057092

UniProt

Q14802

Q61835

RefSeq (mRNA)

NM_008557

RefSeq (protein)

NP_032583

Location (UCSC)Chr 19: 35.12 – 35.12 MbChr 7: 30.77 – 30.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FXYD domain-containing ion transport regulator 3 is a protein that in humans is encoded by the FXYD3 gene.[5][6][7]

Function

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene may function as a chloride channel or as a chloride channel regulator. Two transcript variants encode two different isoforms of the protein; in addition, transcripts utilizing alternative polyA signals have been described in the literature.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000089356 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000057092 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Morrison BW, Moorman JR, Kowdley GC, Kobayashi YM, Jones LR, Leder P (Feb 1995). "Mat-8, a novel phospholemman-like protein expressed in human breast tumors, induces a chloride conductance in Xenopus oocytes". The Journal of Biological Chemistry. 270 (5): 2176–82. doi:10.1074/jbc.270.5.2176. PMID 7836447.
  6. ^ Sweadner KJ, Rael E (Aug 2000). "The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression". Genomics. 68 (1): 41–56. doi:10.1006/geno.2000.6274. PMID 10950925.
  7. ^ a b "Entrez Gene: FXYD3 FXYD domain containing ion transport regulator 3".

Further reading


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