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    FXYD3 FXYD domain containing ion transport regulator 3 [ Homo sapiens (human) ]

    Gene ID: 5349, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FXYD3provided by HGNC
    Official Full Name
    FXYD domain containing ion transport regulator 3provided by HGNC
    Primary source
    HGNC:HGNC:4027
    See related
    Ensembl:ENSG00000089356 MIM:604996; AllianceGenome:HGNC:4027
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAT8; PLML
    Summary
    This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]
    Expression
    Biased expression in colon (RPKM 158.8), stomach (RPKM 51.0) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FXYD3 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35115823..35124324)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37660439..37669003)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35606727..35615228)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene HPN antisense RNA 1 Neighboring gene Fc gamma binding protein pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35575022-35575836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35581426-35581963 Neighboring gene hepatitis A virus cellular receptor 1-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35600165-35600765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35613161-35614050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35614051-35614938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14456 Neighboring gene microRNA 6887 Neighboring gene leucine rich repeat LGI family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35632134-35632696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35633820-35634380 Neighboring gene FXYD domain containing ion transport regulator 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. FXYD3 enhances IL-17A signaling to promote psoriasis by competitively binding TRAF3 in keratinocytes. Yang W, et al. Cell Mol Immunol, 2023 Mar. PMID 36693922, Free PMC Article
    2. FXYD3 facilitates Na(+) and liquid absorption across human airway epithelia by increasing the transport capacity of the Na/K ATPase. Cano Portillo C, et al. Am J Physiol Cell Physiol, 2022 Oct 1. PMID 35993520, Free PMC Article
    3. Silencing overexpression of FXYD3 protein in breast cancer cells amplifies effects of doxorubicin and γ-radiation on Na(+)/K(+)-ATPase and cell survival. Liu CC, et al. Breast Cancer Res Treat, 2016 Jan. PMID 26740212
    4. Expression and significance of FXYD-3 protein in gastric adenocarcinoma. Zhu ZL, et al. Dis Markers, 2010. PMID 20364041, Free PMC Article
    5. FXYD3 expression in gliomas and its clinicopathological significance. Wang MW, et al. Oncol Res, 2009. PMID 20112499

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FXYD3 functionally demarcates an ancestral breast cancer stem cell subpopulation with features of drug-tolerant persisters.
      Title: FXYD3 functionally demarcates an ancestral breast cancer stem cell subpopulation with features of drug-tolerant persisters.
    2. FXYD3 enhances IL-17A signaling to promote psoriasis by competitively binding TRAF3 in keratinocytes.
      Title: FXYD3 enhances IL-17A signaling to promote psoriasis by competitively binding TRAF3 in keratinocytes.
    3. FXYD3 facilitates Na(+) and liquid absorption across human airway epithelia by increasing the transport capacity of the Na/K ATPase.
      Title: FXYD3 facilitates Na(+) and liquid absorption across human airway epithelia by increasing the transport capacity of the Na/K ATPase.
    4. Control of protein palmitoylation by regulating substrate recruitment to a zDHHC-protein acyltransferase.
      Title: Control of protein palmitoylation by regulating substrate recruitment to a zDHHC-protein acyltransferase.
    5. Scn1b and Fxyd1 expression was significantly downregulated in HSCR colon.
      Title: Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung's disease.
    6. Suppression of FXYD3 in MCF-7.
      Title: Silencing overexpression of FXYD3 protein in breast cancer cells amplifies effects of doxorubicin and γ-radiation on Na(+)/K(+)-ATPase and cell survival.
    7. Study demonstrated that the expression of FXYD1, FXYD3 and FXYD5 is elevated in the lungs of Acute respiratory distress syndrome patients
      Title: FXYD1 negatively regulates Na(+)/K(+)-ATPase activity in lung alveolar epithelial cells.
    8. All three markers correlated significantly with regional lymph node metastasis: FXYD3 (p = 0.0110), S100A11 (p = 0.0071), and GSTM3 (p = 0.0173) in colon cancer lymphatic metastasis.
      Title: Tissue-based proteomics reveals FXYD3, S100A11 and GSTM3 as novel markers for regional lymph node metastasis in colon cancer.
    9. ExoS facilitates P. aeruginosa penetration through the intestinal epithelial barrier by binding to FXYD3 and thereby impairing the defense function of tight junctions against bacterial penetration.
      Title: Translocation of Pseudomonas aeruginosa from the intestinal tract is mediated by the binding of ExoS to an Na,K-ATPase regulator, FXYD3.
    10. Up-regulated expression of FXYD-3 protein may be involved in tumourgenesis and invasion of gastric adenocarcinoma.
      Title: Expression and significance of FXYD-3 protein in gastric adenocarcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111076

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chloride channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables sodium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chloride transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of sodium ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    FXYD domain-containing ion transport regulator 3
    Names
    chloride conductance inducer protein Mat-8
    mammary tumor 8 kDa protein
    phospholemman-like protein
    sodium/potassium-transporting ATPase subunit FXYD3

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001136007.2 → NP_001129479.1  FXYD domain-containing ion transport regulator 3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AA298900, AC020907, AW250864, BQ682674, BU185141, U28249
      Consensus CDS
      CCDS46048.1
      UniProtKB/Swiss-Prot
      Q14802
      Related
      ENSP00000473929.1, ENST00000604255.5
      Conserved Domains (1) summary
      pfam02038
      Location:82 → 125
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

    2. NM_001136008.2 → NP_001129480.1  FXYD domain-containing ion transport regulator 3 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001129480.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region and 3' UTR, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (4) with a shorter N-terminus and shorter C-terminus when compared to isoform 3.
      Source sequence(s)
      AC020907, BQ682674, CA948888, DA890604
      Consensus CDS
      CCDS46049.1
      UniProtKB/Swiss-Prot
      Q14802
      Related
      ENSP00000474622.1, ENST00000605677.1
      Conserved Domains (1) summary
      pfam02038
      Location:25 → 94
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

    3. NM_001136009.2 → NP_001129481.1  FXYD domain-containing ion transport regulator 3 isoform 5 precursor

      See identical proteins and their annotated locations for NP_001129481.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region and 3' UTR, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (5) with a shorter N-terminus and shorter distinct C-terminus when compared to isoform 3. Variants 5 and 6 encode the same isoform (5).
      Source sequence(s)
      AC020907, AK311689, BQ682674, DA438143, DB202948
      Consensus CDS
      CCDS46050.1
      UniProtKB/Swiss-Prot
      Q14802
      Related
      ENSP00000474855.1, ENST00000605552.5

    4. NM_001136010.2 → NP_001129482.1  FXYD domain-containing ion transport regulator 3 isoform 5 precursor

      See identical proteins and their annotated locations for NP_001129482.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the coding region and 3' UTR, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (5) with a shorter N-terminus and shorter distinct C-terminus when compared to isoform 3. Variants 5 and 6 encode the same isoform (5).
      Source sequence(s)
      AC020907, BQ682674, DA438143
      Consensus CDS
      CCDS46050.1
      UniProtKB/Swiss-Prot
      Q14802
      Related
      ENSP00000474055.1, ENST00000603449.5

    5. NM_001136011.2 → NP_001129483.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001129483.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an exon in the 5' coding region, compared to variant 3. This difference results in translation initiation from a downstream in-frame ATG and an isoform (1) with a shorter N-terminus when compared to isoform 3. Variants 1 and 7 encode the same isoform (1).
      Source sequence(s)
      AC020907, AW250864, BI715233, BQ676323, BQ682674, U28249
      Consensus CDS
      CCDS12442.1
      UniProtKB/Swiss-Prot
      A6NDE0, C9JDU2, F5H174, F8WB34, Q13211, Q14802, Q6IB59
      UniProtKB/TrEMBL
      S4R3M2
      Conserved Domains (1) summary
      cd20328
      Location:20 → 68
      FXYD3-like; FXYD domain-containing ion transport regulator 3 and similar proteins

    6. NM_001136012.2 → NP_001129484.1  FXYD domain-containing ion transport regulator 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001129484.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has multiple differences in the coding region, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (2) with a shorter N-terminus and longer C-terminus when compared to isoform 3. Variants 2 and 8 encode the same isoform (2).
      Source sequence(s)
      AC020907, AW250864, BE793135, BQ682674, CB128589, U28249
      Consensus CDS
      CCDS12443.1
      UniProtKB/Swiss-Prot
      Q14802
      Related
      ENSP00000328259.5, ENST00000346446.9
      Conserved Domains (1) summary
      pfam02038
      Location:25 → 94
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

    7. NM_001387349.1 → NP_001374278.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 1, 7, and 10-12, encodes isoform 1.
      Source sequence(s)
      AC020907
      Consensus CDS
      CCDS12442.1
      UniProtKB/Swiss-Prot
      A6NDE0, C9JDU2, F5H174, F8WB34, Q13211, Q14802, Q6IB59
      UniProtKB/TrEMBL
      S4R3M2
      Related
      ENSP00000474851.1, ENST00000603181.5
      Conserved Domains (1) summary
      cd20328
      Location:20 → 68
      FXYD3-like; FXYD domain-containing ion transport regulator 3 and similar proteins

    8. NM_001387350.1 → NP_001374279.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 1, 7, 9, 11, and 12, encodes isoform 1.
      Source sequence(s)
      AC020907
      Consensus CDS
      CCDS12442.1
      UniProtKB/Swiss-Prot
      A6NDE0, C9JDU2, F5H174, F8WB34, Q13211, Q14802, Q6IB59
      UniProtKB/TrEMBL
      S4R3M2
      Conserved Domains (1) summary
      cd20328
      Location:20 → 68
      FXYD3-like; FXYD domain-containing ion transport regulator 3 and similar proteins

    9. NM_001387352.1 → NP_001374281.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 1, 7, 9, 10, and 12, encodes isoform 1.
      Source sequence(s)
      AC020907
      Consensus CDS
      CCDS12442.1
      UniProtKB/Swiss-Prot
      A6NDE0, C9JDU2, F5H174, F8WB34, Q13211, Q14802, Q6IB59
      UniProtKB/TrEMBL
      S4R3M2
      Conserved Domains (1) summary
      cd20328
      Location:20 → 68
      FXYD3-like; FXYD domain-containing ion transport regulator 3 and similar proteins

    10. NM_001387353.1 → NP_001374282.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variants 1, 7, and 9-11, encodes isoform 1.
      Source sequence(s)
      AC020907
      Consensus CDS
      CCDS12442.1
      UniProtKB/Swiss-Prot
      A6NDE0, C9JDU2, F5H174, F8WB34, Q13211, Q14802, Q6IB59
      UniProtKB/TrEMBL
      S4R3M2
      Related
      ENSP00000474526.1, ENST00000604621.5
      Conserved Domains (1) summary
      cd20328
      Location:20 → 68
      FXYD3-like; FXYD domain-containing ion transport regulator 3 and similar proteins

    11. NM_001387354.1 → NP_001374283.1  FXYD domain-containing ion transport regulator 3 isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020907
      Consensus CDS
      CCDS92586.1
      UniProtKB/TrEMBL
      S4R445
      Related
      ENSP00000474223.1, ENST00000603524.5
      Conserved Domains (1) summary
      cd20328
      Location:20 → 97
      FXYD3-like; FXYD domain-containing ion transport regulator 3 and similar proteins

    12. NM_001387355.1 → NP_001374284.1  FXYD domain-containing ion transport regulator 3 isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AC020907
      UniProtKB/TrEMBL
      A0A1S5UZ23
      Conserved Domains (1) summary
      cd20328
      Location:49 → 97
      FXYD3-like; FXYD domain-containing ion transport regulator 3 and similar proteins

    13. NM_005971.4 → NP_005962.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_005962.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks multiple exons in the 5' coding region, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (1) with a shorter N-terminus when compared to isoform 3. Variants 1, 7, and 9-12 all encode the same isoform (1).
      Source sequence(s)
      AC020907, AW250864, BC090044, BE793135, BQ682674, U28249
      Consensus CDS
      CCDS12442.1
      UniProtKB/Swiss-Prot
      A6NDE0, C9JDU2, F5H174, F8WB34, Q13211, Q14802, Q6IB59
      UniProtKB/TrEMBL
      S4R3M2
      Related
      ENSP00000474438.1, ENST00000604404.6
      Conserved Domains (1) summary
      cd20328
      Location:20 → 68
      FXYD3-like; FXYD domain-containing ion transport regulator 3 and similar proteins

    14. NM_021910.3 → NP_068710.1  FXYD domain-containing ion transport regulator 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_068710.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (2) with a shorter N-terminus and longer C-terminus when compared to isoform 3.
      Source sequence(s)
      AC020907, AW250864, BE793135, BM549935, BQ682674, U28249
      Consensus CDS
      CCDS12443.1
      UniProtKB/Swiss-Prot
      Q14802
      Related
      ENSP00000389770.2, ENST00000435734.6
      Conserved Domains (1) summary
      pfam02038
      Location:25 → 94
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35115823..35124324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      37660439..37669003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14802.1 GenPept UniProtKB/Swiss-Prot:Q14802

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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