SLC9B1 (solute carrier family 9 member B1)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
150159 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Solute carrier family 9 member B1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SLC9B1 |
SynonymsGene synonyms aliases
|
NHA1, NHEDC1 |
ChromosomeChromosome number
|
4 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
4q24 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0006814 |
Process |
Sodium ion transport |
IEA |
|
GO:0007338 |
Process |
Single fertilization |
IEA |
|
GO:0015299 |
Function |
Solute:proton antiporter activity |
IEA |
|
GO:0016021 |
Component |
Integral component of membrane |
IEA |
|
GO:0030317 |
Process |
Flagellated sperm motility |
ISS |
|
GO:0034220 |
Process |
Ion transmembrane transport |
TAS |
|
GO:0051453 |
Process |
Regulation of intracellular pH |
ISS |
|
GO:0097228 |
Component |
Sperm principal piece |
ISS |
|
GO:1902600 |
Process |
Proton transmembrane transport |
IEA |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
Sequence |
|
Sequence length |
515 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 |
30061737, 29892015 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
30285260, 28991256 |
Wolfram syndrome |
WOLFRAM SYNDROME 2 |
rs63749888, rs28937891, rs104893879, rs28937892, rs1578609780, rs1191510461, rs104893880, rs104893881, rs1362648752, rs104893883, rs74315205, rs71524374, rs387906930, rs727503745, rs71530923, rs199946797, rs797045076, rs777580652, rs797046112, rs797046113, rs369107336, rs148953711, rs863224265, rs863224268, rs145639028, rs1064796781, rs1064794257, rs1064797306, rs774265764, rs760337383, rs760171298, rs372855769, rs1553879087, rs1553876668, rs1560422383, rs1560408865, rs1578307302, rs1443751733, rs1578612324, rs1730600472 |
|
|
|
|
|
| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412 |