solute carrier family 9 member A1

Summary
Gene Symbol
  • SLC9A1
Organism
Homo sapiens (human)
NCBI Gene
6548
PubChem
6548
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Antiport
  • Calmodulin-binding
  • Cell membrane
  • Coiled coil
  • Deafness
  • Disease variant
  • Glycoprotein
  • Neurodegeneration
  • Palmitate
  • Phosphoprotein
  • Reference proteome
  • Sodium transport
  • Transmembrane helix
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
P19634
  • APNH
  • Na(+)/H(+) antiporter, amiloride-sensitive
  • Na(+)/H(+) exchanger 1
  • Solute carrier family 9 member 1
B2RAH2
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
sodium/hydrogen exchanger
Functional Category
  • K: Transcription
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 10 entries
DO ID Disease Name Source
DOID:0080065 autosomal recessive spinocerebellar ataxia 19
DOID:1459 hypothyroidism
DOID:1591 renovascular hypertension
DOID:3525 middle cerebral artery infarction
DOID:576 proteinuria
DOID:585 nephrolithiasis
DOID:6000 congestive heart failure
DOID:7998 hyperthyroidism
DOID:83 cataract
DOID:9352 type 2 diabetes mellitus

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024