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

Gene ID: 53827, updated on 1-Jun-2020

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
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

Genomic context

See FXYD5 in Genome Data Viewer
Location:
19q13.12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35154735..35169881)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35645625..35660788)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene FXYD domain containing ion transport regulator 1 Neighboring gene FXYD domain containing ion transport regulator 7 Neighboring gene uncharacterized LOC105372379 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
cadherin binding IDA
Inferred from Direct Assay
more info
PubMed 
ion channel regulator activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sodium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ion transport IEA
Inferred from Electronic Annotation
more info
 
microvillus assembly NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of calcium-dependent cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of 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)

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
    Q96DB9
    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
    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/Swiss-Prot
    Q96DB9
    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
    Q96DB9
    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
    Q96DB9
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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