The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] See more...

Aliases for SLC9B1 Gene

Aliases for SLC9B1 Gene

  • Solute Carrier Family 9 Member B1 2 3 5
  • Solute Carrier Family 9, Subfamily B (NHA1, Cation Proton Antiporter 1), Member 1 2 3
  • Solute Carrier Family 9, Subfamily B (Cation Proton Antiporter 2), Member 1 2 3
  • Sodium/Hydrogen Exchanger-Like Domain-Containing Protein 1 3 4
  • Na(+)/H(+) Exchanger-Like Domain-Containing Protein 1 3 4
  • NHE Domain-Containing Protein 1 3 4
  • Sodium/Hydrogen Exchanger 9B1 3 4
  • NHEDC1 3 4
  • NHA1 3 4
  • Solute Carrier Family 9, Subfamily B Member 1 4
  • Na+/H+ Exchanger Domain Containing 1 2
  • Testicular Tissue Protein Li 127 3

External Ids for SLC9B1 Gene

Previous HGNC Symbols for SLC9B1 Gene

  • NHEDC1

Previous GeneCards Identifiers for SLC9B1 Gene

  • GC04M103808

Summaries for SLC9B1 Gene

Entrez Gene Summary for SLC9B1 Gene

  • The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

GeneCards Summary for SLC9B1 Gene

SLC9B1 (Solute Carrier Family 9 Member B1) is a Protein Coding gene. Diseases associated with SLC9B1 include Wolfram Syndrome 2 and Tinea Nigra. 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 SLC9B2.

UniProtKB/Swiss-Prot Summary for SLC9B1 Gene

  • Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility.

Additional gene information for SLC9B1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9B1 Gene

Genomics for SLC9B1 Gene

GeneHancer (GH) Regulatory Elements for SLC9B1 Gene

Promoters and enhancers for SLC9B1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC9B1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC9B1

Genomic Locations for SLC9B1 Gene

Genomic Locations for SLC9B1 Gene
chr4:102,885,048-103,019,739
(GRCh38/hg38)
Size:
134,692 bases
Orientation:
Minus strand
chr4:103,806,205-103,940,896
(GRCh37/hg19)
Size:
134,692 bases
Orientation:
Minus strand

Genomic View for SLC9B1 Gene

Genes around SLC9B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9B1 Gene

Proteins for SLC9B1 Gene

  • Protein details for SLC9B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4ZJI4-SL9B1_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 9B1
    Protein Accession:
    Q4ZJI4
    Secondary Accessions:
    • A1KXV1
    • B9EH04
    • C9JBP7
    • Q49A30
    • Q8NCV2
    • Q8WVZ0

    Protein attributes for SLC9B1 Gene

    Size:
    515 amino acids
    Molecular mass:
    56054 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=AAM22868.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC9B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC9B1 Gene

Post-translational modifications for SLC9B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SLC9B1 Gene

Domains & Families for SLC9B1 Gene

Gene Families for SLC9B1 Gene

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

Protein Domains for SLC9B1 Gene

Blocks:
  • Sodium/hydrogen exchanger
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC9B1 Gene

GenScript: Design optimal peptide antigens:
  • Na(+)/H(+) exchanger-like domain-containing protein 1 (NHDC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4ZJI4

UniProtKB/Swiss-Prot:

SL9B1_HUMAN :
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
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 SLC9B1: view

Function for SLC9B1 Gene

Molecular function for SLC9B1 Gene

UniProtKB/Swiss-Prot Function:
Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility.

Phenotypes From GWAS Catalog for SLC9B1 Gene

Gene Ontology (GO) - Molecular Function for SLC9B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015297 antiporter activity IEA --
GO:0015299 solute:proton antiporter activity IEA --
genes like me logo Genes that share ontologies with SLC9B1: view

Phenotypes for SLC9B1 Gene

genes like me logo Genes that share phenotypes with SLC9B1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC9B1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9B1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC9B1 Gene

Localization for SLC9B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9B1 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 SLC9B1 gene
Compartment Confidence
plasma membrane 5
peroxisome 2
golgi apparatus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC9B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane TAS --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC9B1: view

Pathways & Interactions for SLC9B1 Gene

genes like me logo Genes that share pathways with SLC9B1: view

Pathways by source for SLC9B1 Gene

Interacting Proteins for SLC9B1 Gene

;

Gene Ontology (GO) - Biological Process for SLC9B1 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:0007338 single fertilization IEA --
GO:0030317 flagellated sperm motility ISS --
genes like me logo Genes that share ontologies with SLC9B1: view

No data available for SIGNOR curated interactions for SLC9B1 Gene

Drugs & Compounds for SLC9B1 Gene

No Compound Related Data Available

Transcripts for SLC9B1 Gene

mRNA/cDNA for SLC9B1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 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 SLC9B1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9B1 Gene

No ASD Table

Relevant External Links for SLC9B1 Gene

GeneLoc Exon Structure for
SLC9B1

Expression for SLC9B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC9B1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC9B1 Gene

This gene is overexpressed in Testis (x28.1).

Protein differential expression in normal tissues from HIPED for SLC9B1 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC9B1 Gene



Protein tissue co-expression partners for SLC9B1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC9B1

SOURCE GeneReport for Unigene cluster for SLC9B1 Gene:

Hs.666728

mRNA Expression by UniProt/SwissProt for SLC9B1 Gene:

Q4ZJI4-SL9B1_HUMAN
Tissue specificity: Expressed only in the testis.

Evidence on tissue expression from TISSUES for SLC9B1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SLC9B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9B1 Gene

Orthologs for SLC9B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC9B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NHEDC1 30
  • 99.35 (n)
SLC9B1 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9B1 30
  • 82.65 (n)
-- 31
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Slc9b1 30
  • 75.3 (n)
mouse
(Mus musculus)
Mammalia Slc9b1 17 31 30
  • 74.37 (n)
cow
(Bos Taurus)
Mammalia NHEDC1 31
  • 67 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 54 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 52 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 31
  • 50 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-162b23.4 31
  • 42 (a)
ManyToMany
CU695013.3 31
  • 36 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Nha1 31
  • 23 (a)
ManyToMany
Nha2 31
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_F57G8.5 30
  • 44.8 (n)
F57G8.5 31
  • 25 (a)
ManyToMany
F41E7.1 31
  • 24 (a)
ManyToMany
F41E7.2 31
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6614 31
  • 43 (a)
OneToMany
Species where no ortholog for SLC9B1 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)

Evolution for SLC9B1 Gene

ENSEMBL:
Gene Tree for SLC9B1 (if available)
TreeFam:
Gene Tree for SLC9B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC9B1: view image

Paralogs for SLC9B1 Gene

Paralogs for SLC9B1 Gene

(2) SIMAP similar genes for SLC9B1 Gene using alignment to 6 proteins:

  • SL9B1_HUMAN
  • D6RA80_HUMAN
  • D6RFK4_HUMAN
  • D6RGI9_HUMAN
  • D6RHJ0_HUMAN
  • H0Y9Z0_HUMAN
genes like me logo Genes that share paralogs with SLC9B1: view

Variants for SLC9B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC9B1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs1057520144 Uncertain Significance: not provided 102,885,336(-) T/C MISSENSE_VARIANT,INTRON_VARIANT
rs199992363 Likely Benign: not specified 102,887,358(-) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
rs63749888 Pathogenic: Wolfram syndrome 2 102,885,221(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs933913005 Likely Benign: not specified 102,887,321(-) T/C INTRON_VARIANT
rs2715591 - p.Gln33His

Additional dbSNP identifiers (rs#s) for SLC9B1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC9B1 Gene

Variant ID Type Subtype PubMed ID
esv1026728 CNV deletion 17803354
esv2178050 CNV deletion 18987734
esv2588063 CNV deletion 19546169
esv2670006 CNV deletion 23128226
esv2678594 CNV deletion 23128226
esv2728081 CNV deletion 23290073
esv2759270 CNV gain 17122850
esv3564366 CNV deletion 23714750
esv3569636 CNV loss 25503493
esv3601623 CNV loss 21293372
esv3601625 CNV loss 21293372
esv988357 CNV deletion 20482838
nsv10542 CNV loss 18304495
nsv1072422 CNV deletion 25765185
nsv1123825 CNV deletion 24896259
nsv1141461 CNV duplication 24896259
nsv436415 CNV deletion 17901297
nsv4445 CNV insertion 18451855
nsv461598 CNV loss 19166990
nsv508300 CNV deletion 20534489
nsv513156 CNV loss 21212237
nsv528680 CNV loss 19592680
nsv594957 CNV loss 21841781
nsv594978 CNV loss 21841781
nsv830021 CNV loss 17160897
nsv950370 CNV duplication 24416366
nsv966304 CNV duplication 23825009
nsv967779 CNV duplication 23825009
nsv967781 CNV duplication 23825009

Variation tolerance for SLC9B1 Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC9B1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9B1 Gene

Disorders for SLC9B1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC9B1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wolfram syndrome 2
  • wfs2
tinea nigra
  • infection by cladosporium werneckii
wolfram syndrome
  • wfs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC9B1

genes like me logo Genes that share disorders with SLC9B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC9B1 Gene

Publications for SLC9B1 Gene

  1. Cloning of a novel human NHEDC1 (Na+/H+ exchanger like domain containing 1) gene expressed specifically in testis. (PMID: 16850186) Ye G … Yu L (Molecular biology reports 2006) 2 3 4 54
  2. SLC9B1 methylation predicts fetal intolerance of labor. (PMID: 29235940) Knight AK … Smith AK (Epigenetics 2018) 3 54
  3. Identification and characterization of methylation-dependent/independent DNA regulatory elements in the human SLC9B1 gene. (PMID: 25701605) Kumar PL … James PF (Gene 2015) 3 54
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  5. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PMID: 19460752) Yeung ML … Jeang KT (The Journal of biological chemistry 2009) 3 54

Products for SLC9B1 Gene

Sources for SLC9B1 Gene