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

    Gene ID: 53826, updated on 2-May-2024

    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; AllianceGenome:HGNC:4030
    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
    NEW
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    Genomic context

    See FXYD6 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117836981..117877430, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117853389..117893827, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117707696..117748145, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene DS cell adhesion molecule like 1 Neighboring gene uncharacterized LOC105369515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117533497-117534182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117539691-117540527 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117549982-117550688 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117550689-117551396 Neighboring gene NANOG hESC enhancer GRCh37_chr11:117594511-117595039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117629849-117630350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117630351-117630850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117651403-117651902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117684525-117685102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117689832-117690566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117690567-117691301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117692983-117693536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117695199-117695752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117695753-117696305 Neighboring gene FXYD6-FXYD2 readthrough Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:117712427-117713626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117726457-117726957 Neighboring gene FXYD6 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:117738498-117739697 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:117740007-117740526 Neighboring gene Sharpr-MPRA regulatory region 1172 Neighboring gene FXYD domain containing ion transport regulator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117778029-117778529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117784655-117785647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117802800-117803339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117803340-117803878 Neighboring gene transmembrane serine protease 13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19102 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:117843533-117843947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5580 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117869597-117870098 Neighboring gene interleukin 10 receptor subunit alpha

    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

    Related articles in PubMed

    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 molecular_function ND
    No biological Data available
    more info
     
    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
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    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 glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    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_013071.1 RefSeqGene

      Range
      5773..45450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164831.3NP_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, DA131017
      Consensus CDS
      CCDS8387.1
      UniProtKB/Swiss-Prot
      A8K0R4, J3QLD2, Q6FIG9, Q6UW52, Q9H0Q3
      UniProtKB/TrEMBL
      E9PJ02
      Related
      ENSP00000431446.1, ENST00000527717.5
      Conserved Domains (1) summary
      pfam02038
      Location:2570
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    2. NM_001164832.3NP_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)
      AP000757
      Consensus CDS
      CCDS8387.1
      UniProtKB/Swiss-Prot
      A8K0R4, J3QLD2, Q6FIG9, Q6UW52, Q9H0Q3
      UniProtKB/TrEMBL
      E9PJ02
      Related
      ENSP00000463158.1, ENST00000530956.6
      Conserved Domains (1) summary
      pfam02038
      Location:2570
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    3. NM_001164836.3NP_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)
      AK290757, AP000757
      Consensus CDS
      CCDS8387.1
      UniProtKB/Swiss-Prot
      A8K0R4, J3QLD2, Q6FIG9, Q6UW52, Q9H0Q3
      UniProtKB/TrEMBL
      E9PJ02
      Related
      ENSP00000260282.4, ENST00000260282.8
      Conserved Domains (1) summary
      pfam02038
      Location:2570
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    4. NM_001164837.3NP_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)
      AK290757, AL832811, AP000757
      Consensus CDS
      CCDS8387.1
      UniProtKB/Swiss-Prot
      A8K0R4, J3QLD2, Q6FIG9, Q6UW52, Q9H0Q3
      UniProtKB/TrEMBL
      E9PJ02
      Related
      ENSP00000442756.1, ENST00000539526.5
      Conserved Domains (1) summary
      pfam02038
      Location:2570
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    5. NM_022003.4NP_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
      Consensus CDS
      CCDS8387.1
      UniProtKB/Swiss-Prot
      A8K0R4, J3QLD2, Q6FIG9, Q6UW52, Q9H0Q3
      UniProtKB/TrEMBL
      E9PJ02
      Related
      ENSP00000433312.1, ENST00000526014.6
      Conserved Domains (1) summary
      pfam02038
      Location:2570
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      117836981..117877430 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      117853389..117893827 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)