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SLC9C1 Gene(Protein Coding)

Solute Carrier Family 9 Member C1

GCID:
GC03M112140
GIFtS:
44
Genes Participants
UDN Logo

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
  • Sperm-NHE 2 3
  • SLC9A10 3 4
  • NHE-10 3 4
  • Sperm-Specific Sodium Proton Exchanger 3
  • Solute Carrier Family 9, Isoform 10 2
  • Solute Carrier Family 9 Member 10 4
  • Sodium/Hydrogen Exchanger 10 3
  • Na(+)/H(+) Exchanger 10 4
  • SNHE 4
  • NHE 3

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 and Vestibulocochlear Nerve Disease. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include solute:proton antiporter activity. An important paralog of this gene is SLC9C2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SLC9C1 Gene

Genomics for SLC9C1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SLC9C1 Gene

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
GH03I112292 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 560 +69.2 69208 1.7 SMARCA5 CTCF ZNF654 TRIM22 CEBPB RAD21 IKZF1 CEBPA NBN ZNF143 SLC9C1 ENSG00000261488 C3orf52 PIR48604 GC03M112301 LOC100532749
GH03I112357 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 556.6 +1.2 1225 8.9 JUN BMI1 BATF RELA GATA3 POLR2A ATF7 IKZF2 RUNX3 STAT1 SLC9C1 GC03M112363 CD200 BTLA MIR567 C3orf52 LOC105374042 ENSG00000261488 ATG3
GH03I112083 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 18.9 +276.9 276923 4.5 HDGF PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 YY1 ZNF121 C3orf52 SLC9C1 ENSG00000261488 MIR567 ABHD10 GCSAM TMPRSS7
GH03I112124 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 22.5 +232.4 232421 11.6 HDGF PKNOX1 SMAD1 NSD2 MZF1 BMI1 BATF KLF5 IRF4 RFX5 GCSAM SLC9C1 ENSG00000261488 CD200 C3orf52 MIR567
GH03I112095 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 23.5 +265.9 265930 2.7 PKNOX1 ATF1 INSM2 KLF17 SIN3A FEZF1 BRCA1 RFX5 ZNF366 ZSCAN5C SLC9C1 ABHD10 C3orf52 GC03P112114
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC9C1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SLC9C1 Gene

Genomic Locations for SLC9C1 Gene
chr3:112,140,887-112,362,986
(GRCh38/hg38)
Size:
222,100 bases
Orientation:
Minus strand
chr3:111,859,734-112,013,105
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for SLC9C1 Gene

Proteins for SLC9C1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for SLC9C1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC9C1 Gene

  • Glycosylation at isoforms=2278
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC9C1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC9C1 Gene

Domains & Families for SLC9C1 Gene

Gene Families for SLC9C1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC9C1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC9C1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 --
GO:0015386 potassium:proton antiporter activity IBA --
genes like me logo Genes that share ontologies with SLC9C1: view

Phenotypes for SLC9C1 Gene

MGI mutant phenotypes for SLC9C1:
inferred from 1 alleles
GenomeRNAi human phenotypes for SLC9C1:
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

Clone Products

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 5
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC9C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031514 motile cilium 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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0007275 multicellular organism development 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

Products:

  1. Drug

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
 71-52-3
sodium
  • Sodium
  • Sodium ion
 7440-23-5
genes like me logo Genes that share compounds with SLC9C1: view

Transcripts for SLC9C1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SLC9C1 Gene

(16) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC9C1 Gene

Solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for SLC9C1 Gene

GeneLoc Exon Structure for
SLC9C1
ECgene alternative splicing isoforms for
SLC9C1

Expression for SLC9C1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for SLC9C1 Gene
mRNA expression by GTEx 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, PaxDb, and MOPED for SLC9C1 Gene



Protein tissue co-expression partners for SLC9C1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC9C1 Gene:

SLC9C1

SOURCE GeneReport for Unigene cluster for SLC9C1 Gene:

Hs.680112

Evidence on tissue expression from TISSUES for SLC9C1 Gene

  • Nervous system(3.7)
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 33 34
  • 99.03 (n)
dog
(Canis familiaris)
 Mammalia SLC9C1 33 34
  • 82.89 (n)
mouse
(Mus musculus)
 Mammalia Slc9c1 33 16 34
  • 77.69 (n)
rat
(Rattus norvegicus)
 Mammalia Slc9c1 33
  • 77.28 (n)
cow
(Bos Taurus)
 Mammalia SLC9C1 34
  • 68 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SLC9C1 34
  • 51 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SLC9C1 34
  • 42 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 36 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 24 (a)
 ManyToMany
-- 34
  • 21 (a)
 ManyToMany
Species where no ortholog for SLC9C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for SLC9C1 Gene

Paralogs for SLC9C1 Gene

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

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

Variants for SLC9C1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SLC9C1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000014739 -- 112,262,863(-) T/C intron_variant
rs1000054531 -- 112,164,942(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000079085 -- 112,187,332(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000084980 -- 112,264,434(-) T/C intron_variant
rs1000088579 -- 112,164,764(-) T/C genic_downstream_transcript_variant, intron_variant

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

(4) MalaCards diseases for SLC9C1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
alveolar periostitis
  • alveolitis of jaw
vestibulocochlear nerve disease
  • acoustic nerve disease
vestibular neuronitis
  • epidemic neurolabyrinthitis
miles-carpenter syndrome
  • miles-carpenter x-linked mental retardation syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC9C1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  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 58
  4. 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 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for SLC9C1 Gene

Sources for SLC9C1 Gene

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