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SLC9C1 solute carrier family 9 member C1 [ Homo sapiens (human) ]

Gene ID: 285335, updated on 15-Jun-2019

Summary

Official Symbol
SLC9C1provided by HGNC
Official Full Name
solute carrier family 9 member C1provided by HGNC
Primary source
HGNC:HGNC:31401
See related
Ensembl:ENSG00000172139 MIM:612738
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NHE; NHE-10; SLC9A10; sperm-NHE
Summary
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]
Expression
Biased expression in testis (RPKM 3.5) and skin (RPKM 0.5) See more
Orthologs

Genomic context

See SLC9C1 in Genome Data Viewer
Location:
3q13.2
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (112140898..112294258, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (111859752..112013105, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene chromosome 3 open reading frame 52 Neighboring gene microRNA 567 Neighboring gene germinal center associated signaling and motility Neighboring gene chromosome 1 open reading frame 106 pseudogene Neighboring gene ubiquitination factor E4A (UFD2 homolog, yeast) pseudogene Neighboring gene uncharacterized LOC105374042 Neighboring gene CD200 molecule Neighboring gene uncharacterized LOC105374041

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion channel activity IEA
Inferred from Electronic Annotation
more info
 
potassium:proton antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:proton antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
flagellated sperm motility IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of intracellular pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
sodium/hydrogen exchanger 10
Names
solute carrier family 9, member 10
solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1
sperm-specific Na(+)/H(+) exchanger
sperm-specific sodium proton exchanger

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001320531.2NP_001307460.1  sodium/hydrogen exchanger 10 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC128688, BC044801
    Consensus CDS
    CCDS82818.1
    UniProtKB/Swiss-Prot
    Q4G0N8
    Related
    ENSP00000420688.1, ENST00000487372.5
    Conserved Domains (4) summary
    COG0664
    Location:834968
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:834950
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:596678
    Ion_trans; Ion transport protein
    cl01133
    Location:19286
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  2. NM_183061.3NP_898884.1  sodium/hydrogen exchanger 10 isoform 1

    See identical proteins and their annotated locations for NP_898884.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC128688, AK128084, BC044801
    Consensus CDS
    CCDS33817.1
    UniProtKB/Swiss-Prot
    Q4G0N8
    Related
    ENSP00000306627.5, ENST00000305815.10
    Conserved Domains (4) summary
    COG0664
    Location:8821016
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:882998
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:644726
    Ion_trans; Ion transport protein
    cl01133
    Location:19421
    Na_H_Exchanger; Sodium/hydrogen exchanger family

RNA

  1. NR_135297.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks multiple alternate internal exons, and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5' most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC044801, BC143774, DB068586, DB072593
    Related
    ENST00000471295.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    112140898..112294258 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512718.1XP_011511020.1  sodium/hydrogen exchanger 10 isoform X2

    Conserved Domains (4) summary
    COG0664
    Location:828962
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:828944
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:590672
    Ion_trans; Ion transport protein
    cl01133
    Location:19367
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  2. XM_017006247.1XP_016861736.1  sodium/hydrogen exchanger 10 isoform X4

  3. XM_017006248.1XP_016861737.1  sodium/hydrogen exchanger 10 isoform X7

  4. XM_011512719.1XP_011511021.1  sodium/hydrogen exchanger 10 isoform X3

    Conserved Domains (3) summary
    pfam00520
    Location:644726
    Ion_trans; Ion transport protein
    cl00047
    Location:882916
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    cl01133
    Location:19421
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  5. XM_006713603.2XP_006713666.1  sodium/hydrogen exchanger 10 isoform X5

    Conserved Domains (4) summary
    COG0664
    Location:809943
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:809925
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:571653
    Ion_trans; Ion transport protein
    cl01133
    Location:2348
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  6. XM_011512721.1XP_011511023.1  sodium/hydrogen exchanger 10 isoform X6

    See identical proteins and their annotated locations for XP_011511023.1

    Conserved Domains (4) summary
    COG0664
    Location:784918
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:784900
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:546628
    Ion_trans; Ion transport protein
    cl01133
    Location:42323
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  7. XM_017006246.1XP_016861735.1  sodium/hydrogen exchanger 10 isoform X1

    Conserved Domains (4) summary
    COG0664
    Location:839973
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:839955
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:601683
    Ion_trans; Ion transport protein
    cl01133
    Location:14378
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  8. XM_011512725.2XP_011511027.1  sodium/hydrogen exchanger 10 isoform X11

    Conserved Domains (3) summary
    COG0664
    Location:413547
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:413529
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:175257
    Ion_trans; Ion transport protein
  9. XM_011512724.1XP_011511026.1  sodium/hydrogen exchanger 10 isoform X10

    Conserved Domains (2) summary
    pfam00520
    Location:644726
    Ion_trans; Ion transport protein
    cl01133
    Location:19421
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  10. XM_017006250.1XP_016861739.1  sodium/hydrogen exchanger 10 isoform X9

  11. XM_017006249.1XP_016861738.1  sodium/hydrogen exchanger 10 isoform X8

  12. XM_011512727.2XP_011511029.1  sodium/hydrogen exchanger 10 isoform X12

    Conserved Domains (1) summary
    cl01133
    Location:19421
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  13. XM_011512726.2XP_011511028.1  sodium/hydrogen exchanger 10 isoform X13

    Conserved Domains (1) summary
    cl01133
    Location:19421
    Na_H_Exchanger; Sodium/hydrogen exchanger family

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_019805492.1 Reference GRCh38.p13 PATCHES

    Range
    24188..186996 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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