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FXYD3 FXYD domain containing ion transport regulator 3 [ Homo sapiens (human) ]

Gene ID: 5349, updated on 2-Oct-2020

Summary

Official Symbol
FXYD3provided by HGNC
Official Full Name
FXYD domain containing ion transport regulator 3provided by HGNC
Primary source
HGNC:HGNC:4027
See related
Ensembl:ENSG00000089356 MIM:604996
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
MAT8; PLML
Summary
This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]
Expression
Biased expression in colon (RPKM 158.8), stomach (RPKM 51.0) and 10 other tissues See more
Orthologs

Genomic context

See FXYD3 in Genome Data Viewer
Location:
19q13.12
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35115818..35124324)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35606732..35615228)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene HPN antisense RNA 1 Neighboring gene sushi, nidogen and EGF like domains 1 pseudogene Neighboring gene Fc fragment of IgG binding protein pseudogene Neighboring gene microRNA 6887 Neighboring gene leucine rich repeat LGI family member 4 Neighboring gene FXYD domain containing ion transport regulator 1

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

Clone Names

  • MGC111076

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chloride channel activity TAS
Traceable Author Statement
more info
PubMed 
ion channel regulator activity IEA
Inferred from Electronic Annotation
more info
 
sodium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
chloride transport TAS
Traceable Author Statement
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
FXYD domain-containing ion transport regulator 3
Names
chloride conductance inducer protein Mat-8
mammary tumor 8 kDa protein
phospholemman-like protein
sodium/potassium-transporting ATPase subunit FXYD3

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.

mRNA and Protein(s)

  1. NM_001136007.2NP_001129479.1  FXYD domain-containing ion transport regulator 3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AA298900, AC020907, AW250864, BQ682674, BU185141, U28249
    Consensus CDS
    CCDS46048.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000473929.1, ENST00000604255.5
    Conserved Domains (1) summary
    pfam02038
    Location:82125
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  2. NM_001136008.2NP_001129480.1  FXYD domain-containing ion transport regulator 3 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001129480.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region and 3' UTR, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (4) with a shorter N-terminus and shorter C-terminus when compared to isoform 3.
    Source sequence(s)
    AC020907, BQ682674, CA948888, DA890604
    Consensus CDS
    CCDS46049.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474622.1, ENST00000605677.1
    Conserved Domains (1) summary
    pfam02038
    Location:2594
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  3. NM_001136009.2NP_001129481.1  FXYD domain-containing ion transport regulator 3 isoform 5 precursor

    See identical proteins and their annotated locations for NP_001129481.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences in the coding region and 3' UTR, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (5) with a shorter N-terminus and shorter distinct C-terminus when compared to isoform 3. Variants 5 and 6 encode the same isoform (5).
    Source sequence(s)
    AC020907, AK311689, BQ682674, DA438143, DB202948
    Consensus CDS
    CCDS46050.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474855.1, ENST00000605552.5
  4. NM_001136010.2NP_001129482.1  FXYD domain-containing ion transport regulator 3 isoform 5 precursor

    See identical proteins and their annotated locations for NP_001129482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences in the coding region and 3' UTR, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (5) with a shorter N-terminus and shorter distinct C-terminus when compared to isoform 3. Variants 5 and 6 encode the same isoform (5).
    Source sequence(s)
    AC020907, BQ682674, DA438143
    Consensus CDS
    CCDS46050.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474055.1, ENST00000603449.5
  5. NM_001136011.2NP_001129483.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001129483.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an exon in the 5' coding region, compared to variant 3. This difference results in translation initiation from a downstream in-frame ATG and an isoform (1) with a shorter N-terminus when compared to isoform 3. Variants 1 and 7 encode the same isoform (1).
    Source sequence(s)
    AC020907, AW250864, BI715233, BQ676323, BQ682674, U28249
    Consensus CDS
    CCDS12442.1
    UniProtKB/Swiss-Prot
    Q14802
    Conserved Domains (1) summary
    pfam02038
    Location:2569
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  6. NM_001136012.2NP_001129484.1  FXYD domain-containing ion transport regulator 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001129484.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences in the coding region, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (2) with a shorter N-terminus and longer C-terminus when compared to isoform 3. Variants 2 and 8 encode the same isoform (2).
    Source sequence(s)
    AC020907, AW250864, BE793135, BQ682674, CB128589, U28249
    Consensus CDS
    CCDS12443.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000328259.5, ENST00000346446.9
    Conserved Domains (1) summary
    pfam02038
    Location:2594
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  7. NM_001387349.1NP_001374278.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 1, 7, and 10-12, encodes isoform 1.
    Source sequence(s)
    AC020907
  8. NM_001387350.1NP_001374279.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 1, 7, 9, 11, and 12, encodes isoform 1.
    Source sequence(s)
    AC020907
  9. NM_001387352.1NP_001374281.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 1, 7, 9, 10, and 12, encodes isoform 1.
    Source sequence(s)
    AC020907
  10. NM_001387353.1NP_001374282.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 1, 7, and 9-11, encodes isoform 1.
    Source sequence(s)
    AC020907
  11. NM_001387354.1NP_001374283.1  FXYD domain-containing ion transport regulator 3 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC020907
  12. NM_001387355.1NP_001374284.1  FXYD domain-containing ion transport regulator 3 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC020907
  13. NM_005971.4NP_005962.1  FXYD domain-containing ion transport regulator 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_005962.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks multiple exons in the 5' coding region, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (1) with a shorter N-terminus when compared to isoform 3. Variants 1, 7, and 9-12 all encode the same isoform (1).
    Source sequence(s)
    AC020907, AW250864, BC090044, BE793135, BQ682674, U28249
    Consensus CDS
    CCDS12442.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474438.1, ENST00000604404.5
    Conserved Domains (1) summary
    pfam02038
    Location:2569
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  14. NM_021910.3NP_068710.1  FXYD domain-containing ion transport regulator 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_068710.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 3. These differences result in translation initiation from a downstream in-frame ATG and an isoform (2) with a shorter N-terminus and longer C-terminus when compared to isoform 3.
    Source sequence(s)
    AC020907, AW250864, BE793135, BM549935, BQ682674, U28249
    Consensus CDS
    CCDS12443.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000389770.2, ENST00000435734.6
    Conserved Domains (1) summary
    pfam02038
    Location:2594
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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
    35115818..35124324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527032.3XP_011525334.1  FXYD domain-containing ion transport regulator 3 isoform X1

    Conserved Domains (1) summary
    pfam02038
    Location:82151
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  2. XM_005258996.5XP_005259053.1  FXYD domain-containing ion transport regulator 3 isoform X2

    See identical proteins and their annotated locations for XP_005259053.1

    UniProtKB/Swiss-Prot
    Q14802
    Conserved Domains (1) summary
    pfam02038
    Location:2594
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  3. XM_017026878.2XP_016882367.1  FXYD domain-containing ion transport regulator 3 isoform X3

    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474526.1, ENST00000604621.5
    Conserved Domains (1) summary
    pfam02038
    Location:2569
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  4. XM_017026877.2XP_016882366.1  FXYD domain-containing ion transport regulator 3 isoform X3

    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474851.1, ENST00000603181.5
    Conserved Domains (1) summary
    pfam02038
    Location:2569
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
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