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

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., [email protected]., Sep 2009]
Expression: Broad expression in spleen (RPKM 43.4), bone marrow (RPKM 43.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35154735..35169881)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (37699360..37714531)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (35645638..35660784)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The dysadherin/FAK axis promotes individual cell migration in colon cancer.
Title: The dysadherin/FAK axis promotes individual cell migration in colon cancer.
High-Intensity Training Represses FXYD5 and Glycosylates Na,K-ATPase in Type II Muscle Fibres, Which Are Linked with Improved Muscle K[+] Handling and Performance.
Title: High-Intensity Training Represses FXYD5 and Glycosylates Na,K-ATPase in Type II Muscle Fibres, Which Are Linked with Improved Muscle K(+) Handling and Performance.
FXYD5 promotes sorafenib resistance through the Akt/mTOR signaling pathway in hepatocellular carcinoma.
Title: FXYD5 promotes sorafenib resistance through the Akt/mTOR signaling pathway in hepatocellular carcinoma.
Dysadherin awakens mechanical forces and promotes colorectal cancer progression.
Title: Dysadherin awakens mechanical forces and promotes colorectal cancer progression.
A FXYD5/TGFbeta/SMAD positive feedback loop drives epithelialtomesenchymal transition and promotes tumor growth and metastasis in ovarian cancer.
Title: A FXYD5/TGF‑β/SMAD positive feedback loop drives epithelial‑to‑mesenchymal transition and promotes tumor growth and metastasis in ovarian cancer.
our study demonstrated that FXYD5 is an HGSOC-associated molecule, especially overexpressed in cases characterised by shorter survival, chemotherapy resistance and disease recurrence/progression, so it might be useful for identification of patients at higher risk of worse prognosis at the time of diagnosis.
Title: FXYD5 (Dysadherin) upregulation predicts shorter survival and reveals platinum resistance in high-grade serous ovarian cancer patients.
the ratio between FXYD5 and alpha1-beta1 heterodimer determines whether the Na,K-ATPase acts as a positive or negative regulator of intercellular adhesion.
Title: The O-glycosylated ectodomain of FXYD5 impairs adhesion by disrupting cell-cell trans-dimerization of Na,K-ATPase β1 subunits.
Knockdown of FXYD5 in MDA-MB-231 breast cancer cells largely decreases expression and secretion of the chemokine CCL2 (MCP-1). A related effect has also been observed in renal cell carcinoma cells.
Title: FXYD5 Protein Has a Pro-inflammatory Role in Epithelial Cells.
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.
Dysadherin-silenced side population cells exhibited reduced expression of Bcl-2 and Bax compared with that prior to silencing.
Title: Aberrantly regulated dysadherin and B-cell lymphoma 2/B-cell lymphoma 2-associated X enhances tumorigenesis and DNA targeting drug resistance of liver cancer stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (36)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

EST209638 (e-PCR)
- UniSTS:80646

A004Z42 (e-PCR)
- UniSTS:57529

G59474 (e-PCR)
- UniSTS:136638

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
enables sodium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in microvillus assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of calcium-dependent cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: FXYD domain-containing ion transport regulator 5

Names: dysadherin; keratinocytes associated transmembrane protein 1

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.

Genomic

NG_047155.1 RefSeqGene

Range

5020..20166

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001164605.2 → NP_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:130 → 167

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
NM_001320912.2 → NP_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:130 → 163

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
NM_001320913.2 → NP_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:99 → 136

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
NM_014164.6 → NP_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:130 → 167

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
NM_144779.3 → NP_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:130 → 167

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

RNA

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

35154735..35169881

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q8IWS1
XM_047438941.1 → XP_047294897.1 FXYD domain-containing ion transport regulator 5 isoform X1

UniProtKB/TrEMBL

B4E1W5, F5H4X8
XM_047438942.1 → XP_047294898.1 FXYD domain-containing ion transport regulator 5 isoform X1

UniProtKB/TrEMBL

B4E1W5, F5H4X8

Related

ENSP00000444839.1, ENST00000543307.5

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

37699360..37714531

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q8IWS1
XM_054321226.1 → XP_054177201.1 FXYD domain-containing ion transport regulator 5 isoform X1

UniProtKB/TrEMBL

B4E1W5, F5H4X8