Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6548
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 9 member A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC9A1
Synonyms (NCBI Gene) Gene synonyms aliases
APNH, LIKNS, NHE-1, NHE1, PPP1R143
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LIKNS
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs786204831 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1553175089 T>G Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023332 hsa-miR-122-5p Microarray 17612493
MIRT044326 hsa-miR-106b-5p CLASH 23622248
MIRT043512 hsa-miR-331-3p CLASH 23622248
MIRT484494 hsa-miR-4433b-3p PAR-CLIP 23592263
MIRT484493 hsa-miR-7845-5p PAR-CLIP 23592263
Transcription factors
Transcription factor Regulation Reference
PPARA Unknown 19958503
PPARG Repression 19887620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 8901634, 11350981, 11696366, 12809501, 15035633, 16710297, 21392185, 30287853, 31912575
GO:0005516 Function Calmodulin binding IEA
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding TAS 17565280
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 21553168
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
107310 11071 ENSG00000090020
Protein
UniProt ID P19634
Protein name Sodium/hydrogen exchanger 1 (APNH) (Na(+)/H(+) antiporter, amiloride-sensitive) (Na(+)/H(+) exchanger 1) (NHE-1) (Solute carrier family 9 member 1)
Protein function Electroneutral Na(+) /H(+) antiporter that extrudes Na(+) in exchange for external protons driven by the inward sodium ion chemical gradient, protecting cells from acidification that occurs from metabolism (PubMed:11350981, PubMed:11532004, PubM
PDB 1Y4E , 2BEC , 2E30 , 2HTG , 2KBV , 2L0E , 2MDF , 2YGG , 6BJF , 6NUC , 6NUF , 6NUU , 6ZBI , 7DSV , 7DSW , 7DSX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00999 Na_H_Exchanger 105 505 Sodium/hydrogen exchanger family Family
PF16644 NEXCaM_BD 599 700 Regulatory region of Na+/H+ exchanger NHE binds to calmodulin Domain
Tissue specificity TISSUE SPECIFICITY: Kidney and intestine.
Sequence
MVLRSGICGLSPHRIFPSLLVVVALVGLLPVLRSHGLQLSPTASTIRSSEPPRERSIGDV
TTAPPEVTPESRPVNHSVTDHGMKPRKAFPVLGIDYTHVRTPFEISLWILLACLMKIGFH
VIPTISSIVPESCLLIVVGLLVGGLIKGVGETPPFLQSDVFFLFLLPPIILDAGYFLPLR
QFTENLGTILIFAVVGTLWNAFFLGGLMYAVCLVGGEQINNIGLLDNLLFGSIISAVDPV
AVLAVFEEIHINELLHILVFGESLLNDAVTVVLYHLFEEFANYEHVGIVDIFLGFLSFFV
VALGGVLVGVVYGVIAAFTSRFTSHIRVIEPLFVFLYSYMAYLSAELFHLSGIMALIASG
VVMRPYVEANISHKSHTTIKYFLKMWSSVSETLIFIFLGVSTVAGSHHWNWTFVISTLLF
CLIARVLGVLGLTWFINKFRIVKLTPKDQFIIAYGGLRGAIAFSLGYLLDKKHFPMCDLF
LTAIITVIFFTVFVQGMTIRPLVDL
LAVKKKQETKRSINEEIHTQFLDHLLTGIEDICGH
YGHHHWKDKLNRFNKKYVKKCLIAGERSKEPQLIAFYHKMEMKQAIELVESGGMGKIPSA
VSTVSMQNIHPKSLPSERILPALSKDKEEEIRKILRNNLQKTRQRLRSYNRHTLVADPYE
EAWNQMLLRRQKARQLEQKINNYLTVPAHKLDSPTMSRAR
IGSDPLAYEPKEDLPVITID
PASPQSPESVDLVNEELKGKVLGLSRDPAKVAEEDEDDDGGIMMRSKETSSPGTDDVFTP
APSDSPSSQRIQRCLSDPGPHPEPGEGEPFFPKGQ
Sequence length 815
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Lichtenstein-knorr syndrome Lichtenstein-Knorr syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Stimulate 17209041, 24376510
Aortic Dissection Associate 37684281
Barrett Esophagus Associate 20876775
Breast Neoplasms Associate 15843433, 17332506, 26646587, 27266704, 29895196
Calcinosis Associate 35339998
Cardiomegaly Associate 35334035
COVID 19 Associate 33215884
Diabetes Mellitus Type 2 Associate 33426802
Diabetic Nephropathies Associate 10886567
Diabetic Nephropathies Stimulate 37916327