SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM, Apr 2009] See more...

Aliases for SLC9C1 Gene

Aliases for SLC9C1 Gene

  • Solute Carrier Family 9 Member C1 2 3 4 5
  • Solute Carrier Family 9, Subfamily C (Na+-Transporting Carboxylic Acid Decarboxylase), Member 1 2 3
  • Sperm-Specific Na(+)/H(+) Exchanger 3 4
  • Solute Carrier Family 9, Member 10 2 3
  • Sodium/Hydrogen Exchanger 10 3 4
  • Sperm-NHE 2 3
  • SLC9A10 3 4
  • NHE-10 3 4
  • NHE 2 3
  • Sperm-Specific Sodium Proton Exchanger 3
  • Solute Carrier Family 9, Isoform 10 2
  • Solute Carrier Family 9 Member 10 4
  • Na(+)/H(+) Exchanger 10 4
  • SLC9C1 5
  • SNHE 4

External Ids for SLC9C1 Gene

Previous HGNC Symbols for SLC9C1 Gene

  • SLC9A10

Previous GeneCards Identifiers for SLC9C1 Gene

  • GC03M111860

Summaries for SLC9C1 Gene

Entrez Gene Summary for SLC9C1 Gene

  • SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM, Apr 2009]

GeneCards Summary for SLC9C1 Gene

SLC9C1 (Solute Carrier Family 9 Member C1) is a Protein Coding gene. Diseases associated with SLC9C1 include Alveolar Periostitis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include solute:proton antiporter activity. An important paralog of this gene is SLC9C2.

UniProtKB/Swiss-Prot Summary for SLC9C1 Gene

  • Sperm-specific sodium/hydrogen exchanger involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) (By similarity).

Gene Wiki entry for SLC9C1 Gene

Additional gene information for SLC9C1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9C1 Gene

Genomics for SLC9C1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC9C1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J112292 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 610.4 +0.5 480 1.7 CTCF KDM1A RAD21 IKZF2 RCOR1 TRIM22 CEBPA EED SIN3A ARID3A SLC9C1 lnc-GCSAM-2 TBILA C3orf52 LOC100532749 GCSAM
GH03J112357 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 606 -67.5 -67503 8.9 RNF2 POLR2A PRDM1 RELA IKZF2 TRIM22 DPF2 RELB RUNX3 CEBPB SLC9C1 lnc-SLC9C1-1 CD200 BTLA MIR567 C3orf52 ENSG00000239482 TBILA ATG3 RF00017-4081
GH03J112083 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 18.9 +208.1 208146 4.6 GATAD2A CTCF PRDM10 ZNF629 TFE3 ZNF692 ZNF7 PRDM1 ZNF143 ZIC2 C3orf52 SLC9C1 TBILA MIR567 ABHD10 GCSAM piR-50968-084 TMPRSS7
GH03J112124 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 22.5 +163.7 163693 11.6 SP1 POLR2A BACH1 LARP7 STAT3 ZNF143 RELA SMAD5 TCF12 IKZF2 GCSAM SLC9C1 TBILA CD200 C3orf52 HSALNG0028025 MIR567
GH03J112111 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 22.6 +177.6 177590 10.1 SP1 CTCF POLR2A BACH1 LARP7 STAT3 ZNF143 RELA REST SMAD5 GCSAM SLC9C1 TBILA CD200 BTLA C3orf52 MIR567 HSALNG0028025
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC9C1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC9C1

Genomic Locations for SLC9C1 Gene

Genomic Locations for SLC9C1 Gene
chr3:112,140,898-112,294,258
(GRCh38/hg38)
Size:
153,361 bases
Orientation:
Minus strand
chr3:111,859,734-112,013,105
(GRCh37/hg19)
Size:
153,372 bases
Orientation:
Minus strand

Genomic View for SLC9C1 Gene

Genes around SLC9C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9C1 Gene

Proteins for SLC9C1 Gene

  • Protein details for SLC9C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G0N8-SL9C1_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 10
    Protein Accession:
    Q4G0N8
    Secondary Accessions:
    • Q6ZRP4
    • Q7RTP2

    Protein attributes for SLC9C1 Gene

    Size:
    1177 amino acids
    Molecular mass:
    135206 Da
    Quaternary structure:
    • Interacts with soluble adenylyl cyclase (sAC).
    SequenceCaution:
    • Sequence=DAA01462.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC9C1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC9C1 Gene

Post-translational modifications for SLC9C1 Gene

  • Glycosylation at Asn278
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC9C1 Gene

Domains & Families for SLC9C1 Gene

Gene Families for SLC9C1 Gene

Protein Domains for SLC9C1 Gene

InterPro:
Blocks:
  • Cyclic nucleotide-binding domain
  • Sodium/hydrogen exchanger
ProtoNet:

Suggested Antigen Peptide Sequences for SLC9C1 Gene

GenScript: Design optimal peptide antigens:
  • Sperm-specific Na(+)/H(+) exchanger (S9A10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4G0N8

UniProtKB/Swiss-Prot:

SL9C1_HUMAN :
  • The ion transport-like region is related to the membrane segments of voltage-gated ion channels. Its function is unknown (By similarity).
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
Domain:
  • The ion transport-like region is related to the membrane segments of voltage-gated ion channels. Its function is unknown (By similarity).
Family:
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
genes like me logo Genes that share domains with SLC9C1: view

Function for SLC9C1 Gene

Molecular function for SLC9C1 Gene

UniProtKB/Swiss-Prot Function:
Sperm-specific sodium/hydrogen exchanger involved in intracellular pH regulation of spermatozoa. Required for sperm motility and fertility. Involved in sperm cell hyperactivation, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for the expression and bicarbonate regulation of the soluble adenylyl cyclase (sAC) (By similarity).

Phenotypes From GWAS Catalog for SLC9C1 Gene

Gene Ontology (GO) - Molecular Function for SLC9C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0015297 antiporter activity IEA --
GO:0015299 solute:proton antiporter activity IEA --
GO:0015385 sodium:proton antiporter activity IBA 21873635
GO:0015386 potassium:proton antiporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC9C1: view

Phenotypes for SLC9C1 Gene

genes like me logo Genes that share phenotypes with SLC9C1: view

Animal Models for SLC9C1 Gene

MGI Knock Outs for SLC9C1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9C1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SLC9C1 Gene

Localization for SLC9C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9C1 Gene

Cell projection, cilium, flagellum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC9C1 gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC9C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC9C1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC9C1 Gene

Pathways & Interactions for SLC9C1 Gene

genes like me logo Genes that share pathways with SLC9C1: view

Pathways by source for SLC9C1 Gene

Gene Ontology (GO) - Biological Process for SLC9C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with SLC9C1: view

No data available for SIGNOR curated interactions for SLC9C1 Gene

Drugs & Compounds for SLC9C1 Gene

(2) Additional Compounds for SLC9C1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
71-52-3, 463-79-6
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC9C1: view

Transcripts for SLC9C1 Gene

mRNA/cDNA for SLC9C1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9C1

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9C1 Gene

No ASD Table

Relevant External Links for SLC9C1 Gene

GeneLoc Exon Structure for
SLC9C1

Expression for SLC9C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC9C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC9C1 Gene

This gene is overexpressed in Testis (x23.7) and Heart - Left Ventricle (x4.1).

Protein differential expression in normal tissues from HIPED for SLC9C1 Gene

This gene is overexpressed in Heart (26.2), CD4 Tcells (21.7), and Islet of Langerhans (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC9C1 Gene



Protein tissue co-expression partners for SLC9C1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC9C1

SOURCE GeneReport for Unigene cluster for SLC9C1 Gene:

Hs.680112

Evidence on tissue expression from TISSUES for SLC9C1 Gene

  • Nervous system(3.9)
  • Intestine(2.4)
  • Kidney(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with SLC9C1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9C1 Gene

Orthologs for SLC9C1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC9C1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC9C1 30 31
  • 99.03 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC9C1 30 31
  • 82.89 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc9c1 30 17 31
  • 77.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc9c1 30
  • 77.28 (n)
Cow
(Bos Taurus)
Mammalia SLC9C1 31
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC9C1 31
  • 51 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC9C1 31
  • 42 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 36 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
ManyToMany
-- 31
  • 21 (a)
ManyToMany
Species where no ortholog for SLC9C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SLC9C1 Gene

ENSEMBL:
Gene Tree for SLC9C1 (if available)
TreeFam:
Gene Tree for SLC9C1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC9C1: view image

Paralogs for SLC9C1 Gene

(2) SIMAP similar genes for SLC9C1 Gene using alignment to 3 proteins:

  • SL9C1_HUMAN
  • C9J3M6_HUMAN
  • F8WCJ0_HUMAN
genes like me logo Genes that share paralogs with SLC9C1: view

Variants for SLC9C1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC9C1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
769278 Benign: not provided 112,155,055(-) T/TA INTRON_VARIANT
770888 Likely Benign: not provided 112,274,902(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
771856 Likely Benign: not provided 112,169,283(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
774845 Benign: not provided 112,169,290(-) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
787585 Benign: not provided 112,202,262(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SLC9C1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC9C1 Gene

Variant ID Type Subtype PubMed ID
esv1008241 CNV insertion 20482838
esv1685233 CNV insertion 17803354
esv3568961 CNV loss 25503493
nsv1010219 CNV gain 25217958
nsv10307 CNV gain 18304495
nsv1114415 CNV deletion 24896259
nsv1153839 CNV duplication 26484159
nsv242 CNV insertion 15895083
nsv3948 CNV insertion 18451855
nsv3949 CNV deletion 18451855
nsv474414 CNV novel sequence insertion 20440878
nsv499193 CNV gain 21111241
nsv508945 CNV insertion 20534489
nsv591291 CNV loss 21841781
nsv591292 CNV loss 21841781
nsv591293 CNV loss 21841781
nsv967051 CNV duplication 23825009

Variation tolerance for SLC9C1 Gene

Residual Variation Intolerance Score: 74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.48; 98.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC9C1 Gene

Human Gene Mutation Database (HGMD)
SLC9C1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9C1 Gene

Disorders for SLC9C1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC9C1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
alveolar periostitis
  • alveolitis of jaw
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SLC9C1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC9C1 Gene

Publications for SLC9C1 Gene

  1. Gene discovery in the hamster: a comparative genomics approach for gene annotation by sequencing of hamster testis cDNAs. (PMID: 12783626) Oduru S … Williams SC (BMC genomics 2003) 2 3 4
  2. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3
  3. Role of the Na(+)/H(+) exchanger on the development of diabetes mellitus and its chronic complications. (PMID: 23000155) Sun YM … Wang LF (Biochemical and biophysical research communications 2012) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3

Products for SLC9C1 Gene

Sources for SLC9C1 Gene