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SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 [ Homo sapiens (human) ]

Gene ID: 10479, updated on 21-Oct-2014
Official Symbol
SLC9A6provided by HGNC
Official Full Name
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6provided by HGNC
Primary source
HGNC:HGNC:11079
Locus tag
RP11-274K13.1
See related
Ensembl:ENSG00000198689; HPRD:02208; MIM:300231; Vega:OTTHUMG00000022498
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
MRSA; NHE6
Summary
This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic mental retardation, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
See SLC9A6 in Epigenomics, MapViewer
Location:
Xq26.3
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (135985424..136047269)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (135067583..135129428)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cancer/testis antigen family 45, member A11, pseudogene Neighboring gene membrane magnesium transporter 1 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 67 Neighboring gene E2F transcription factor 6 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Christianson syndrome
MedGen: C2678194 OMIM: 300243 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation PagePubMed

Replication interactions

Interaction Pubs
Knockdown of solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0267

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sodium:proton antiporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
axon extension IDA
Inferred from Direct Assay
more info
 
brain-derived neurotrophic factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
dendrite extension IDA
Inferred from Direct Assay
more info
 
dendritic spine development IEA
Inferred from Electronic Annotation
more info
 
hydrogen ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ion transport TAS
Traceable Author Statement
more info
 
neuron projection morphogenesis IDA
Inferred from Direct Assay
more info
 
regulation of neurotrophin TRK receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of pH IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
synapse organization IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
axon terminus IEA
Inferred from Electronic Annotation
more info
 
axonal spine IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome IEA
Inferred from Electronic Annotation
more info
 
NOT mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
synapse IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
sodium/hydrogen exchanger 6
Names
sodium/hydrogen exchanger 6
Na(+)/H(+) exchanger 6
solute carrier family 9 (sodium/hydrogen exchanger), member 6

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_017160.1 

    Range
    4998..66843
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042537.1NP_001036002.1  sodium/hydrogen exchanger 6 isoform a precursor

    See proteins identical to NP_001036002.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AF030409, BC035029, DB483081, R15803
    Consensus CDS
    CCDS44003.1
    UniProtKB/Swiss-Prot
    Q92581
    Related
    ENSP00000359729, OTTHUMP00000024090, ENST00000370695, OTTHUMT00000058451
    Conserved Domains (1) summary
    pfam00999
    Location:177525
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  2. NM_001177651.1NP_001171122.1  sodium/hydrogen exchanger 6 isoform c

    See proteins identical to NP_001171122.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK300475, AL732579, DC308430, R15803
    Consensus CDS
    CCDS55504.1
    UniProtKB/Swiss-Prot
    Q92581
    Related
    ENSP00000359735, OTTHUMP00000024091, ENST00000370701, OTTHUMT00000058452
    Conserved Domains (1) summary
    COG0025
    Location:126481
    NhaP; NhaP-type Na+/H+ and K+/H+ antiporters [Inorganic ion transport and metabolism]
  3. NM_006359.2NP_006350.1  sodium/hydrogen exchanger 6 isoform b precursor

    See proteins identical to NP_006350.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AF030409, BC035029, BC049169, DB483081, R15803
    Consensus CDS
    CCDS14654.1
    UniProtKB/Swiss-Prot
    Q92581
    Related
    ENSP00000359732, OTTHUMP00000024089, ENST00000370698, OTTHUMT00000058450
    Conserved Domains (1) summary
    COG0025
    Location:146501
    NhaP; NhaP-type Na+/H+ and K+/H+ antiporters [Inorganic ion transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    135985424..136047269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724726.1XP_006724789.1  

    See proteins identical to XP_006724789.1

    UniProtKB/Swiss-Prot
    Q92581
    Conserved Domains (1) summary
    COG0025
    Location:126481
    NhaP; NhaP-type Na+/H+ and K+/H+ antiporters [Inorganic ion transport and metabolism]

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    124341164..124403216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    134978471..135040349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)