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    FXYD5 FXYD domain containing ion transport regulator 5 [ Homo sapiens (human) ]

    Gene ID: 53827, updated on 3-Apr-2024

    Summary

    Official Symbol
    FXYD5provided by HGNC
    Official Full Name
    FXYD domain containing ion transport regulator 5provided by HGNC
    Primary source
    HGNC:HGNC:4029
    See related
    Ensembl:ENSG00000089327 MIM:606669; AllianceGenome:HGNC:4029
    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
    RIC; IWU1; KCT1; OIT2; DYSAD; HSPC113; PRO6241
    Summary
    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. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]
    Expression
    Broad expression in spleen (RPKM 43.4), bone marrow (RPKM 43.0) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FXYD5 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35154735..35169881)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37699360..37714531)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35645638..35660784)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35632134-35632696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35633820-35634380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35634381-35634942 Neighboring gene FXYD domain containing ion transport regulator 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35642007-35642406 Neighboring gene FXYD domain containing ion transport regulator 7 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:35643105-35643656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35644606-35645470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14457 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35666754-35666910 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:35693985-35694502 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35694503-35695020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35695021-35695538 Neighboring gene uncharacterized LOC105372379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35702580-35703391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14460 Neighboring gene family with sequence similarity 187 member B

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sodium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    FXYD domain-containing ion transport regulator 5
    Names
    dysadherin
    keratinocytes associated transmembrane protein 1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_047155.1 RefSeqGene

      Range
      5020..20166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164605.2NP_001158077.1  FXYD domain-containing ion transport regulator 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001158077.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC020907, AI424071, BU164524
      Consensus CDS
      CCDS12447.1
      UniProtKB/Swiss-Prot
      B7WNZ8, Q6UW44, Q96DB9, Q9HC34, Q9P039
      UniProtKB/TrEMBL
      Q8IWS1
      Related
      ENSP00000393848.2, ENST00000423817.7
      Conserved Domains (1) summary
      pfam02038
      Location:130167
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    2. NM_001320912.2NP_001307841.1  FXYD domain-containing ion transport regulator 5 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and uses an alternate splice site in the penultimate exon, compared to variant 1. It encodes isoform 2, which is longer and has a distinct C-tetminus, compared to isoform 1.
      Source sequence(s)
      AC002390, AI424071, BG025158, BM550889
      Consensus CDS
      CCDS82328.1
      UniProtKB/TrEMBL
      B4E1W5, F5H4X8
      Related
      ENSP00000467053.1, ENST00000588699.5
      Conserved Domains (1) summary
      pfam02038
      Location:130163
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    3. NM_001320913.2NP_001307842.1  FXYD domain-containing ion transport regulator 5 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an alternate in-frame exon in the coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AB072911, AI424071, BM839241, BQ941279
      UniProtKB/TrEMBL
      Q8IWS1
      Conserved Domains (1) summary
      pfam02038
      Location:99136
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    4. NM_014164.6NP_054883.3  FXYD domain-containing ion transport regulator 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_054883.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AB072911, AI424071, BM839241, BQ941279
      Consensus CDS
      CCDS12447.1
      UniProtKB/Swiss-Prot
      B7WNZ8, Q6UW44, Q96DB9, Q9HC34, Q9P039
      UniProtKB/TrEMBL
      Q8IWS1
      Related
      ENSP00000376053.2, ENST00000392219.7
      Conserved Domains (1) summary
      pfam02038
      Location:130167
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    5. NM_144779.3NP_659003.1  FXYD domain-containing ion transport regulator 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_659003.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the same protein as variants 2 and 3.
      Source sequence(s)
      AC020907, AI424071, BQ440098
      Consensus CDS
      CCDS12447.1
      UniProtKB/Swiss-Prot
      B7WNZ8, Q6UW44, Q96DB9, Q9HC34, Q9P039
      UniProtKB/TrEMBL
      Q8IWS1
      Related
      ENSP00000443390.1, ENST00000541435.6
      Conserved Domains (1) summary
      pfam02038
      Location:130167
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

    RNA

    1. NR_028406.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5'-most exon compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that overlaps and is expected to inhibit translation of the longest ORF, as found in variant 1.
      Source sequence(s)
      AC002390, AC020907, BC018798, BG025158

    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
      35154735..35169881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438943.1XP_047294899.1  FXYD domain-containing ion transport regulator 5 isoform X2

    2. XM_047438941.1XP_047294897.1  FXYD domain-containing ion transport regulator 5 isoform X1

      UniProtKB/TrEMBL
      F5H4X8
    3. XM_047438942.1XP_047294898.1  FXYD domain-containing ion transport regulator 5 isoform X1

      UniProtKB/TrEMBL
      F5H4X8
      Related
      ENSP00000444839.1, ENST00000543307.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      37699360..37714531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321227.1XP_054177202.1  FXYD domain-containing ion transport regulator 5 isoform X2

    2. XM_054321226.1XP_054177201.1  FXYD domain-containing ion transport regulator 5 isoform X1

      UniProtKB/TrEMBL
      F5H4X8