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FXYD6 FXYD domain containing ion transport regulator 6 [ Homo sapiens (human) ]

Gene ID: 53826, updated on 2-Oct-2018

Summary

Official Symbol
FXYD6provided by HGNC
Official Full Name
FXYD domain containing ion transport regulator 6provided by HGNC
Primary source
HGNC:HGNC:4030
See related
Ensembl:ENSG00000137726 MIM:606683; Vega:OTTHUMG00000166991
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
Summary
This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011]
Expression
Broad expression in brain (RPKM 186.7), ovary (RPKM 91.7) and 16 other tissues See more
Orthologs

Genomic context

See FXYD6 in Genome Data Viewer
Location:
11q23.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (117836976..117877486, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117707691..117748201, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984394 Neighboring gene FXYD6-FXYD2 readthrough Neighboring gene FXYD domain containing ion transport regulator 2 Neighboring gene transmembrane serine protease 13 Neighboring gene interleukin 10 receptor subunit alpha Neighboring gene small integral membrane protein 35

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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Ion homeostasis, organism-specific biosystem (from REACTOME)
    Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
  • Ion transport by P-type ATPases, organism-specific biosystem (from REACTOME)
    Ion transport by P-type ATPases, organism-specific biosystemThe P-type ATPases (E1-E2 ATPases) are a large group of evolutionarily related ion pumps that are found in bacteria, archaea and eukaryotes. They are referred to as P-type ATPases because they catal...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion channel activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
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
biological_process ND
No biological Data available
more info
 
ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
FXYD domain-containing ion transport regulator 6
Names
phosphohippolin

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_013071.1 RefSeqGene

    Range
    4945..45455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164831.2NP_001158303.1  FXYD domain-containing ion transport regulator 6 precursor

    See identical proteins and their annotated locations for NP_001158303.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AL832811, AP000757, AW025308, DA056858, DA131017
    Consensus CDS
    CCDS8387.1
    UniProtKB/Swiss-Prot
    Q9H0Q3
    UniProtKB/TrEMBL
    A0A024R3J8
    Related
    ENSP00000431446.1, OTTHUMP00000234694, ENST00000527717.5, OTTHUMT00000392306
    Conserved Domains (1) summary
    pfam02038
    Location:2570
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  2. NM_001164832.2NP_001158304.1  FXYD domain-containing ion transport regulator 6 precursor

    See identical proteins and their annotated locations for NP_001158304.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AK289629, AK290757, AP000757, AW025308, DA209740
    Consensus CDS
    CCDS8387.1
    UniProtKB/Swiss-Prot
    Q9H0Q3
    UniProtKB/TrEMBL
    A0A024R3J8
    Related
    ENSP00000463158.1, OTTHUMP00000281574, ENST00000530956.6, OTTHUMT00000488689
    Conserved Domains (1) summary
    pfam02038
    Location:2570
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  3. NM_001164836.2NP_001158308.1  FXYD domain-containing ion transport regulator 6 precursor

    See identical proteins and their annotated locations for NP_001158308.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AK289629, AK290757, AP000757, AW025308, DA209740
    Consensus CDS
    CCDS8387.1
    UniProtKB/Swiss-Prot
    Q9H0Q3
    UniProtKB/TrEMBL
    A0A024R3J8
    Related
    ENSP00000260282.4, OTTHUMP00000234693, ENST00000260282.8, OTTHUMT00000392305
    Conserved Domains (1) summary
    pfam02038
    Location:2570
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  4. NM_001164837.2NP_001158309.1  FXYD domain-containing ion transport regulator 6 precursor

    See identical proteins and their annotated locations for NP_001158309.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AK289629, AK290757, AL832811, AP000757, AW025308, DA209740
    Consensus CDS
    CCDS8387.1
    UniProtKB/Swiss-Prot
    Q9H0Q3
    UniProtKB/TrEMBL
    A0A024R3J8
    Related
    ENSP00000442756.1, ENST00000539526.5
    Conserved Domains (1) summary
    pfam02038
    Location:2570
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  5. NM_022003.3NP_071286.1  FXYD domain-containing ion transport regulator 6 precursor

    See identical proteins and their annotated locations for NP_071286.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the functional protein. All variants encode the same protein.
    Source sequence(s)
    AK289629, AK290757, AL832811, AP000757, AW025308, DA209740
    Consensus CDS
    CCDS8387.1
    UniProtKB/Swiss-Prot
    Q9H0Q3
    UniProtKB/TrEMBL
    A0A024R3J8
    Related
    ENSP00000433312.1, OTTHUMP00000234695, ENST00000526014.5, OTTHUMT00000392307
    Conserved Domains (1) summary
    pfam02038
    Location:2570
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    117836976..117877486 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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