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

Gene ID: 5349, updated on 12-May-2016
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 HPRD:05410; MIM:604996; Vega:OTTHUMG00000184625
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]
Orthologs
Location:
19q13.12
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (35115816..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 Neighboring gene FXYD domain containing ion transport regulator 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC111076

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IEA
Inferred from Electronic Annotation
more info
 
chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
sodium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
FXYD domain-containing ion transport regulator 3
Names
chloride conductance inducer protein Mat-8
mammary tumor 8 kDa protein
phospholemman-like protein

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_001136007.1NP_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, AW250864, BQ682674, BU185141, U28249
    Consensus CDS
    CCDS46048.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000473929, OTTHUMP00000272827, ENST00000604255, OTTHUMT00000468988
    Conserved Domains (1) summary
    pfam02038
    Location:81130
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  2. NM_001136008.1NP_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)
    BQ682674, CA948888, DA890604
    Consensus CDS
    CCDS46049.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474622, OTTHUMP00000272835, ENST00000605677, OTTHUMT00000468996
    Conserved Domains (1) summary
    pfam02038
    Location:2495
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  3. NM_001136009.1NP_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)
    AK311689, BQ682674, DA438143, DB202948
    Consensus CDS
    CCDS46050.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474855, OTTHUMP00000272832, ENST00000605552, OTTHUMT00000468993
  4. NM_001136010.1NP_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)
    BQ682674, DA438143
    Consensus CDS
    CCDS46050.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474055, OTTHUMP00000272829, ENST00000603449, OTTHUMT00000468990
  5. NM_001136011.1NP_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)
    AW250864, BI715233, BQ676323, BQ682674, U28249
    Consensus CDS
    CCDS12442.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474851, OTTHUMP00000272826, ENST00000603181, OTTHUMT00000468987
    Conserved Domains (1) summary
    pfam02038
    Location:2473
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  6. NM_001136012.1NP_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)
    AW250864, BE793135, BQ682674, CB128589, U28249
    Consensus CDS
    CCDS12443.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000328259, ENST00000346446
    Conserved Domains (1) summary
    pfam02038
    Location:2499
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  7. NM_005971.3NP_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
    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 and 7 encode the same isoform (1).
    Source sequence(s)
    AW250864, BC090044, BE793135, BQ682674, U28249
    Consensus CDS
    CCDS12442.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000474438, OTTHUMP00000272824, ENST00000604404, OTTHUMT00000468985
    Conserved Domains (1) summary
    pfam02038
    Location:2473
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  8. NM_021910.2NP_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
    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)
    AW250864, BE793135, BM549935, BQ682674, U28249
    Consensus CDS
    CCDS12443.1
    UniProtKB/Swiss-Prot
    Q14802
    Related
    ENSP00000389770, OTTHUMP00000272825, ENST00000435734, OTTHUMT00000468986
    Conserved Domains (1) summary
    pfam02038
    Location:2499
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    35115816..35124324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527032.1XP_011525334.1  

    Conserved Domains (1) summary
    pfam02038
    Location:81156
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
  2. XM_005258996.3XP_005259053.1  

    See identical proteins and their annotated locations for XP_005259053.1

    UniProtKB/Swiss-Prot
    Q14802
    Conserved Domains (1) summary
    pfam02038
    Location:2499
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    35608738..35617241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)