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Aliases for NIPAL1 Gene

Aliases for NIPAL1 Gene

  • NIPA Like Domain Containing 1 2 3
  • Non-Imprinted In Prader-Willi/Angelman Syndrome Region Protein 3 3 4
  • NIPA-Like Domain Containing 1 3 5
  • NIPA-Like Protein 1 3 4
  • NPAL1 3 4
  • 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. Diseases associated with NIPAL1 include Angelman Syndrome. 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 NIPAL3.

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).

No data available for Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around NIPAL1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for NIPAL1 Gene at MOPED

Post-translational modifications for NIPAL1 Gene

  • Glycosylation at Asn 25, Asn 35, Asn 50, and Asn 55
  • Modification sites at PhosphoSitePlus

Other Protein References for NIPAL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NIPAL1 Gene

Domains & Families for NIPAL1 Gene

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

No data available for Gene Families for NIPAL1 Gene

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).
genes like me logo Genes that share phenotypes with NIPAL1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for NIPAL1 Gene COMPARTMENTS Subcellular localization image for NIPAL1 gene
Compartment Confidence
plasma membrane 3

No data available for Gene Ontology (GO) - Cellular Components for NIPAL1 Gene

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

Gene Ontology (GO) - Biological Process for NIPAL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015693 magnesium ion 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:

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 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 and MOPED for NIPAL1 Gene



SOURCE GeneReport for Unigene cluster for NIPAL1 Gene Hs.134190

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

Protein tissue co-expression partners for NIPAL1 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia NIPAL1 35
  • 88.56 (n)
  • 88.24 (a)
NIPAL1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NIPAL1 35
  • 90.49 (n)
  • 91.71 (a)
NIPAL1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nipal1 35
  • 84.96 (n)
  • 87.07 (a)
Nipal1 16
Nipal1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NIPAL1 35
  • 99.84 (n)
  • 100 (a)
NIPAL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nipal1 35
  • 85.76 (n)
  • 88.49 (a)
oppossum
(Monodelphis domestica)
Mammalia NIPAL1 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NIPAL1 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves NIPAL1 35
  • 70.99 (n)
  • 70.54 (a)
NIPAL1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NIPAL1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nipal1 35
  • 66.26 (n)
  • 71.25 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:101583 36
  • 62 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta spict 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nipa-1 36
  • 44 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.6171 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToMany
Species with no ortholog for NIPAL1:
  • 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
rs13116684 - 48,035,909(+) CTGCC(A/G)TCTTA reference, missense
rs321621 -- 48,021,556(+) TTTGT(A/G)GGACC intron-variant
rs321622 -- 48,022,363(+) GATTT(C/T)TATTA intron-variant
rs321623 -- 48,022,548(+) AGATC(C/T)ACCCA intron-variant
rs224799 -- 48,019,908(+) TCAAC(A/C)CCTCA 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)

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

Disorders for NIPAL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NIPAL1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
angelman syndrome
  • as
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NIPAL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NIPAL1
genes like me logo Genes that share disorders with NIPAL1: view

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

Publications for NIPAL1 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 67
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for NIPAL1 Gene

Sources for NIPAL1 Gene

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