Human Gene SLC9C1 (uc003dyu.3) Description and Page Index
  Description: Homo sapiens solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 (SLC9C1), mRNA.
RefSeq Summary (NM_183061): 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].
Transcript (Including UTRs)
   Position: hg19 chr3:111,859,752-112,013,074 Size: 153,323 Total Exon Count: 29 Strand: -
Coding Region
   Position: hg19 chr3:111,860,119-112,005,638 Size: 145,520 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:111,859,752-112,013,074)mRNA (may differ from genome)Protein (1177 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
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UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SL9C1_HUMAN
DESCRIPTION: RecName: Full=Sodium/hydrogen exchanger 10; AltName: Full=Na(+)/H(+) exchanger 10; Short=NHE-10; AltName: Full=Solute carrier family 9 member 10; AltName: Full=Solute carrier family 9 member C1; AltName: Full=Sperm-specific Na(+)/H(+) exchanger; Short=sNHE;
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).
SUBUNIT: Interacts with soluble adenylyl cyclase (sAC) (By similarity).
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane; Multi-pass membrane protein (By similarity).
DOMAIN: The ion transport-like region is related to the membrane segments of voltage-gated ion channels. Its function is unknown (By similarity).
SIMILARITY: Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
SIMILARITY: Contains 1 cyclic nucleotide-binding domain.
SEQUENCE CAUTION: Sequence=DAA01462.1; Type=Erroneous gene model prediction;

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC9C1
Diseases sorted by gene-association score: alveolar periostitis (16), vestibulocochlear nerve disease (9), vestibular neuronitis (9), miles-carpenter syndrome (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.96 RPKM in Testis
Total median expression: 6.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -61.20222-0.276 Picture PostScript Text
3' UTR -73.70367-0.201 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006153 - Cation/H_exchanger
IPR018422 - Cation/H_exchanger_CPA1
IPR018490 - cNMP-bd-like
IPR000595 - cNMP-bd_dom
IPR014710 - RmlC-like_jellyroll

Pfam Domains:
PF00027 - Cyclic nucleotide-binding domain
PF00520 - Ion transport protein
PF00999 - Sodium/hydrogen exchanger family

SCOP Domains:
51206 - cAMP-binding domain-like
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on Q4G0N8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0015297 antiporter activity
GO:0015299 solute:proton antiporter activity
GO:0015385 sodium:proton antiporter activity
GO:0015386 potassium:proton antiporter activity

Biological Process:
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006814 sodium ion transport
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
GO:0030317 flagellated sperm motility
GO:0051453 regulation of intracellular pH
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport
GO:0098719 sodium ion import across plasma membrane
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031514 motile cilium
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  AK128084 - Homo sapiens cDNA FLJ46205 fis, clone TESTI4010544.
LP896291 - Sequence 1155 from Patent EP3253886.
BC044801 - Homo sapiens solute carrier family 9, member 10, mRNA (cDNA clone MGC:42712 IMAGE:4827529), complete cds.
BC143774 - Homo sapiens cDNA clone IMAGE:9052288.
JD067354 - Sequence 48378 from Patent EP1572962.
JD434142 - Sequence 415166 from Patent EP1572962.
JD492611 - Sequence 473635 from Patent EP1572962.
JD176514 - Sequence 157538 from Patent EP1572962.
JD413941 - Sequence 394965 from Patent EP1572962.
JD546770 - Sequence 527794 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q4G0N8 (Reactome details) participates in the following event(s):

R-HSA-2872463 SLC9C1 exchanges Na+ for H+
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: NM_183061, NP_898884, Q4G0N8, Q6ZRP4, Q7RTP2, SL9C1_HUMAN, SLC9A10
UCSC ID: uc003dyu.3
RefSeq Accession: NM_183061
Protein: Q4G0N8 (aka SL9C1_HUMAN)
CCDS: CCDS33817.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_183061.1
exon count: 29CDS single in 3' UTR: no RNA size: 4138
ORF size: 3534CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7175.50frame shift in genome: no % Coverage: 99.64
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.