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Aliases for NIPAL1 Gene

Aliases for NIPAL1 Gene

  • NIPA Like Domain Containing 1 2 3 5
  • Non-Imprinted In Prader-Willi/Angelman Syndrome Region Protein 3 3 4
  • NIPA-Like Protein 1 3 4
  • NPAL1 3 4
  • Magnesium Transporter NIPA3 3
  • NIPA3 4

External Ids for NIPAL1 Gene

Previous HGNC Symbols for NIPAL1 Gene

  • NPAL1

Previous GeneCards Identifiers for NIPAL1 Gene

  • GC04P047714
  • GC04P048018
  • GC04P047339

Summaries for NIPAL1 Gene

GeneCards Summary for NIPAL1 Gene

NIPAL1 (NIPA Like Domain Containing 1) is a Protein Coding gene. Among its related pathways are Miscellaneous transport and binding events and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is NIPA2.

UniProtKB/Swiss-Prot for NIPAL1 Gene

  • Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity).

Additional gene information for NIPAL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NIPAL1 Gene

Genomics for NIPAL1 Gene

Regulatory Elements for NIPAL1 Gene

Enhancers for NIPAL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H048014 1.5 Ensembl ENCODE dbSUPER 11.3 +105.0 105015 8 FOXA2 ATF1 SIN3A DMAP1 YY1 GLIS2 FOS ATF7 ZNF202 SP3 CNGA1 NFXL1 NIPAL1 RNU6-838P GC04P048104
GH04H048046 1.1 Ensembl ENCODE 12.3 +133.5 133465 2 PKNOX1 FOXA2 TBL1XR1 BMI1 BATF YY1 ZNF207 ATF7 ETV6 RUNX3 CNGA1 NIPAL1 RNU6-838P NFXL1 ENSG00000259959 GC04P048104
GH04H048036 1 Ensembl ENCODE 11.7 +122.8 122767 1 HDGF PKNOX1 BATF EED ZNF207 ATF7 ETV6 RUNX3 IKZF2 CREM CNGA1 NIPAL1 RNU6-838P GC04P048104
GH04H048079 0.7 ENCODE 16.1 +166.1 166052 1 PKNOX1 JUN BACH1 ZBTB40 GATA3 RCOR1 CEBPB EP300 FOXA1 TFDP1 NIPAL1 CNGA1 RNU6-838P ENSG00000259959 CWH43 GC04P048104
GH04H048042 0.9 ENCODE 12.3 +129.2 129151 1 ELF3 FOXA2 ATF1 TBL1XR1 BATF RARA YY1 ATF7 CREM IKZF2 CNGA1 NIPAL1 RNU6-838P GC04P048104
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NIPAL1 on UCSC Golden Path with GeneCards custom track

Promoters for NIPAL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000168076 158 2201 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 ZNF766 CBX5 ZNF143 SP3

Genomic Location for NIPAL1 Gene

Chromosome:
4
Start:
47,914,142 bp from pter
End:
48,040,173 bp from pter
Size:
126,032 bases
Orientation:
Plus strand

Genomic View for NIPAL1 Gene

Genes around NIPAL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIPAL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIPAL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIPAL1 Gene

Proteins for NIPAL1 Gene

  • Protein details for NIPAL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NVV3-NIPA3_HUMAN
    Recommended name:
    Magnesium transporter NIPA3
    Protein Accession:
    Q6NVV3
    Secondary Accessions:
    • B3KTB0
    • Q68DA9

    Protein attributes for NIPAL1 Gene

    Size:
    410 amino acids
    Molecular mass:
    44638 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NIPAL1 Gene

Post-translational modifications for NIPAL1 Gene

  • Glycosylation at posLast=2525, Asn35, posLast=5050, and posLast=5555
  • Modification sites at PhosphoSitePlus

Other Protein References for NIPAL1 Gene

No data available for DME Specific Peptides for NIPAL1 Gene

Domains & Families for NIPAL1 Gene

Gene Families for NIPAL1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for NIPAL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NIPAL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6NVV3

UniProtKB/Swiss-Prot:

NIPA3_HUMAN :
  • Belongs to the NIPA family.
Family:
  • Belongs to the NIPA family.
genes like me logo Genes that share domains with NIPAL1: view

Function for NIPAL1 Gene

Molecular function for NIPAL1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+), Cu(2+) and Co(2+) but to a much less extent than Mg(2+) (By similarity).

Phenotypes From GWAS Catalog for NIPAL1 Gene

Gene Ontology (GO) - Molecular Function for NIPAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015095 magnesium ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with NIPAL1: view
genes like me logo Genes that share phenotypes with NIPAL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NIPAL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NIPAL1 Gene

Localization for NIPAL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIPAL1 Gene

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 NIPAL1 gene
Compartment Confidence
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NIPAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IBA,IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NIPAL1: view

Pathways & Interactions for NIPAL1 Gene

genes like me logo Genes that share pathways with NIPAL1: view

Pathways by source for NIPAL1 Gene

Interacting Proteins for NIPAL1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000295461%0d%0a9606.ENSP00000368135%0d%0a
Selected Interacting proteins: ENSP00000295461 for NIPAL1 Gene via STRING

Symbol External ID(s) Details
LRRN4

Gene Ontology (GO) - Biological Process for NIPAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0015693 magnesium ion transport IBA,IEA --
GO:1903830 magnesium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with NIPAL1: view

No data available for SIGNOR curated interactions for NIPAL1 Gene

Drugs & Compounds for NIPAL1 Gene

No Compound Related Data Available

Transcripts for NIPAL1 Gene

Unigene Clusters for NIPAL1 Gene

NIPA-like domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NIPAL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for NIPAL1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1:
SP2: -
SP3: -
SP4: - - - -

Relevant External Links for NIPAL1 Gene

GeneLoc Exon Structure for
NIPAL1
ECgene alternative splicing isoforms for
NIPAL1

Expression for NIPAL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NIPAL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NIPAL1 Gene

This gene is overexpressed in Esophagus - Mucosa (x10.6), Skin - Sun Exposed (Lower leg) (x8.5), Skin - Not Sun Exposed (Suprapubic) (x8.0), and Colon - Transverse (x5.2).

Protein differential expression in normal tissues from HIPED for NIPAL1 Gene

This gene is overexpressed in Ovary (49.0) and Spleen (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NIPAL1 Gene



Protein tissue co-expression partners for NIPAL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NIPAL1 Gene:

NIPAL1

SOURCE GeneReport for Unigene cluster for NIPAL1 Gene:

Hs.134190
genes like me logo Genes that share expression patterns with NIPAL1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NIPAL1 Gene

Orthologs for NIPAL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NIPAL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NIPAL1 33 34
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia NIPAL1 33 34
  • 90.49 (n)
cow
(Bos Taurus)
Mammalia NIPAL1 33 34
  • 88.56 (n)
rat
(Rattus norvegicus)
Mammalia Nipal1 33
  • 85.76 (n)
mouse
(Mus musculus)
Mammalia Nipal1 33 16 34
  • 84.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NIPAL1 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NIPAL1 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves NIPAL1 33 34
  • 70.99 (n)
lizard
(Anolis carolinensis)
Reptilia NIPAL1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nipal1 33
  • 66.26 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:101583 34
  • 62 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta spict 34
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nipa-1 34
  • 44 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.6171 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 57 (a)
OneToMany
Species where no ortholog for NIPAL1 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for NIPAL1 Gene

ENSEMBL:
Gene Tree for NIPAL1 (if available)
TreeFam:
Gene Tree for NIPAL1 (if available)

Paralogs for NIPAL1 Gene

Paralogs for NIPAL1 Gene

(4) SIMAP similar genes for NIPAL1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for NIPAL1 Gene

genes like me logo Genes that share paralogs with NIPAL1: view

Variants for NIPAL1 Gene

Sequence variations from dbSNP and Humsavar for NIPAL1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000223851 -- 48,035,978(+) TCACT(A/G)TTATC reference, missense
rs1000606258 -- 48,031,883(+) AAAAA(C/T)GCTTG intron-variant
rs1000878545 -- 48,039,271(+) GCAAG(A/G)AGGGG utr-variant-3-prime
rs1000954809 -- 48,024,749(+) ATTCG(C/T)TGCTC intron-variant
rs1001111703 -- 48,033,785(+) TTGTC(-/T)TTTTG intron-variant

Variation tolerance for NIPAL1 Gene

Residual Variation Intolerance Score: 70.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.40; 81.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NIPAL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIPAL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NIPAL1 Gene

Disorders for NIPAL1 Gene

Relevant External Links for NIPAL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NIPAL1

No disorders were found for NIPAL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NIPAL1 Gene

Publications for NIPAL1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes. (PMID: 27899376) Nakayama A … Matsuo H (Annals of the rheumatic diseases 2017) 3 60
  4. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 60
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 60

Products for NIPAL1 Gene

Sources for NIPAL1 Gene

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