SLC9B1 (solute carrier family 9 member B1)

Gene

• Entrez ID: 150159
• Gene name: Solute carrier family 9 member B1
• Gene symbol: SLC9B1
• Synonyms (NCBI Gene): NHA1, NHEDC1
• Chromosome: 4
• Chromosome location: 4q24
• Summary: The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript varian

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042995	Component	Cell projection	IEA
GO:0051453	Process	Regulation of intracellular pH	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0097228	Component	Sperm principal piece	ISS
GO:0098662	Process	Inorganic cation transmembrane transport	IBA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 611527
• HGNC: 24244
• e!Ensembl: ENSG00000164037

Protein

• UniProt ID: Q4ZJI4
• Protein name: Sodium/hydrogen exchanger 9B1 (Na(+)/H(+) exchanger-like domain-containing protein 1) (NHE domain-containing protein 1) (Sodium/hydrogen exchanger-like domain-containing protein 1) (Solute carrier family 9, subfamily B member 1)
• Protein function: Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00999	Na_H_Exchanger	96 → 491	Sodium/hydrogen exchanger family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed only in the testis. {ECO:0000269|PubMed:16850186}.
• Sequence:

  MHTTESKNEHLEDENFQTSTTPQSLIDPNNTAQEETKTVLSDTEEIKPQTKKETYISCPL
  RGVLNVIITNGVILFVIWCMTWSILGSEALPGGNLFGLFIIFYSAIIGGKILQLIRIPLV
  PPLPPLLGMLLAGFTIRNVPFINEHVHVPNTWSSILRSIALTIILIRAGLGLDPQALRHL
  KVVCFRLAVGPCLMEASAAAVFSHFIMKFPWQWAFLLGFVLGAVSPAVVVPYMMVLQENG
  YGVEEGIPTLLMAASSMDDILAITGFNTCLSIVFSSGGILNNAIASIRNVCISLLAGIVL
  GFFVRYFPSEDQKKLTLKRGFLVLTMCVSAVLGSQRIGLHGSGGLCTLVLSFIAGTKWSQ
  EKMKVQKIITTVWDIFQPLLFGLVGAEVSVSSLESNIVGISVATLSLALCVRILTTYLLM
  CFAGFSFKEKIFIALAWMPKATVQAVLGPLALETARVSAPHLEPYAKDVMTVAFLAILIT
  APNGALLMGILGPKMLTRHYDPSKIKLQLSTLEHH

• Sequence length: 515

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Usher syndrome	Pathogenic	rs3974499	RCV003389545	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFRAM SYNDROME 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	34556755	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34273149	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28991256, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFRAM SYNDROME 2	Wolfram Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations