Gene Gene information from NCBI Gene database.
Entrez ID 6548
Gene name Solute carrier family 9 member A1
Gene symbol SLC9A1
Synonyms (NCBI Gene)
APNHLIKNSNHE-1NHE1PPP1R143
Chromosome 1
Chromosome location 1p36.11
Summary 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.
2
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.
505
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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
PPARA Unknown 19958503
PPARG Repression 19887620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
96
GO ID Ontology Definition Evidence Reference
GO:0002026 Process Regulation of the force of heart contraction IEA
GO:0005515 Function Protein binding IPI 8901634, 11350981, 11696366, 12809501, 15035633, 16710297, 21392185, 30287853, 31912575, 33961781
GO:0005516 Function Calmodulin binding IEA
GO:0005543 Function Phospholipid binding IDA 22020933
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding TAS 17565280
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107310 11071 ENSG00000090020
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Lichtenstein-Knorr syndrome Likely pathogenic; Pathogenic rs1221107969, rs786204831, rs2083214834 RCV001806784
RCV000169735
RCV001256015
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BARRETT ESOPHAGUS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Oligodendroglioma Oligodendroglioma BEFREE 22718548
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 37684281 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 24594116, 30367511, 30695730, 31484936
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 24594116, 30367511, 30695730, 31484936
★☆☆☆☆
Found in Text Mining only
Barrett Epithelium Barrett Epithelium CTD_human_DG 21127259
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 20876775
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Barrett Esophagus Barrett esophagus Pubtator 20876775 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Barrett Esophagus Barrett esophagus CTD_human_DG 21127259
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 19887620, 20542029, 21669197, 23902689, 25143433, 25514463, 27176613, 27521504, 27751915, 30849956, 31091671
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 15843433, 17332506, 26646587, 27266704, 29895196 Associate
★☆☆☆☆
Found in Text Mining only