Human Gene SLC9A6 (ENST00000636092.1) Description and Page Index

Description: Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis. (from UniProt Q92581)
Gencode Transcript: ENST00000636092.1
Gencode Gene: ENSG00000198689.13
Transcript (Including UTRs)
Position: hg38 chrX:135,974,636-136,047,267 Size: 72,632 Total Exon Count: 17 Strand: +
Coding Region
Position: hg38 chrX:135,985,659-136,044,724 Size: 59,066 Coding Exon Count: 16

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

Comments and Description Text from UniProtKB


	ID: SL9A6_HUMAN DESCRIPTION: RecName: Full=Sodium/hydrogen exchanger 6; AltName: Full=Na(+)/H(+) exchanger 6; Short=NHE-6; AltName: Full=Solute carrier family 9 member 6; FUNCTION: Electroneutral exchange of protons for Na(+) and K(+) across the early and recycling endosome membranes. Contributes to calcium homeostasis. SUBCELLULAR LOCATION: Endosome membrane; Multi-pass membrane protein. Note=Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane. TISSUE SPECIFICITY: Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart. DISEASE: Defects in SLC9A6 are the cause of mental retardation syndromic X-linked Christianson type (MRXSC) [MIM:300243]; also known as MRXS-Christianson or X-linked Angelman-like syndrome. The phenotype is characterized by profound mental retardation, epilepsy, ataxia, and microcephaly, and showed phenotypic overlap with Angelman syndrome. SIMILARITY: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. CAUTION: Was originally (PubMed:9507001) identified as a mitochondrial inner membrane protein, but was later shown to be localized in early and recycling endosomes and not mitochondria (PubMed:11940519).

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR006153 - Cation/H_exchanger
IPR018422 - Cation/H_exchanger_CPA1
IPR002090 - Na/H_exchanger_6
IPR004709 - NaH_exchanger

Pfam Domains:
PF00999 - Sodium/hydrogen exchanger family

ModBase Predicted Comparative 3D Structure on Q92581


Front	Top	Side

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