Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	150159
Gene name	Solute carrier family 9 member B1
Gene symbol	SLC9B1
Synonyms (NCBI Gene)	NHA1NHEDC1
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

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence
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

MIM	HGNC	e!Ensembl
611527	24244	ENSG00000164037

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

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Usher syndrome	Pathogenic	rs3974499	RCV003389545

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Diabetes Mellitus Type 1	Associate	34556755
Migraine Disorders	Associate	34273149

SLC9B1 (solute carrier family 9 member B1)