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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
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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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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

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