Aliases for NPIPA5 Gene

Aliases for NPIPA5 Gene

  • Nuclear Pore Complex Interacting Protein Family Member A5 2 3 5
  • Nuclear Pore Complex-Interacting Protein Family Member A5 3 4
  • Nuclear Pore Complex Interacting Protein Family, Member A5 2
  • NPIPA5 5
  • NPIP 3

External Ids for NPIPA5 Gene

Previous GeneCards Identifiers for NPIPA5 Gene

  • GC16M015459

Summaries for NPIPA5 Gene

GeneCards Summary for NPIPA5 Gene

NPIPA5 (Nuclear Pore Complex Interacting Protein Family Member A5) is a Protein Coding gene. Diseases associated with NPIPA5 include Cortical Dysplasia, Complex, With Other Brain Malformations 1 and Complex Cortical Dysplasia With Other Brain Malformations. An important paralog of this gene is ENSG00000183889.

Additional gene information for NPIPA5 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPIPA5 Gene

Genomics for NPIPA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NPIPA5 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 NPIPA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPIPA5

Genomic Locations for NPIPA5 Gene

Genomic Locations for NPIPA5 Gene
chr16:15,363,613-15,381,467
(GRCh38/hg38)
Size:
17,855 bases
Orientation:
Minus strand
chr16:15,457,516-15,474,904
(GRCh37/hg19)
Size:
17,389 bases
Orientation:
Minus strand

Genomic View for NPIPA5 Gene

Genes around NPIPA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPIPA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPIPA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPIPA5 Gene

Proteins for NPIPA5 Gene

  • Protein details for NPIPA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    E9PKD4-NPIA5_HUMAN
    Recommended name:
    Nuclear pore complex-interacting protein family member A5
    Protein Accession:
    E9PKD4
    Secondary Accessions:
    • Q0P618

    Protein attributes for NPIPA5 Gene

    Size:
    350 amino acids
    Molecular mass:
    40105 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NPIPA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPIPA5 Gene

Post-translational modifications for NPIPA5 Gene

No Post-translational modifications

Other Protein References for NPIPA5 Gene

No data available for DME Specific Peptides for NPIPA5 Gene

Domains & Families for NPIPA5 Gene

Gene Families for NPIPA5 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for NPIPA5 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

E9PKD4

UniProtKB/Swiss-Prot:

NPIA5_HUMAN :
  • Belongs to the NPIP family.
Family:
  • Belongs to the NPIP family.
genes like me logo Genes that share domains with NPIPA5: view

No data available for Suggested Antigen Peptide Sequences for NPIPA5 Gene

Function for NPIPA5 Gene

Phenotypes From GWAS Catalog for NPIPA5 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NPIPA5 Gene

Localization for NPIPA5 Gene

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 NPIPA5 gene
Compartment Confidence
nucleus 4
plasma membrane 2
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NPIPA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IBA,IDA --
genes like me logo Genes that share ontologies with NPIPA5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NPIPA5 Gene

Pathways & Interactions for NPIPA5 Gene

PathCards logo

SuperPathways for NPIPA5 Gene

No Data Available

Interacting Proteins for NPIPA5 Gene

Gene Ontology (GO) - Biological Process for NPIPA5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NPIPA5 Gene

Drugs & Compounds for NPIPA5 Gene

No Compound Related Data Available

Transcripts for NPIPA5 Gene

mRNA/cDNA for NPIPA5 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPIPA5

Alternative Splicing Database (ASD) splice patterns (SP) for NPIPA5 Gene

No ASD Table

Relevant External Links for NPIPA5 Gene

GeneLoc Exon Structure for
NPIPA5

Expression for NPIPA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPIPA5 Gene

mRNA differential expression in normal tissues according to GTEx for NPIPA5 Gene

This gene is overexpressed in Brain - Cerebellum (x5.2) and Brain - Cerebellar Hemisphere (x4.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPIPA5

Evidence on tissue expression from TISSUES for NPIPA5 Gene

  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with NPIPA5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPIPA5 Gene

Orthologs for NPIPA5 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for NPIPA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 83 (a)
OneToMany
Species where no ortholog for NPIPA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for NPIPA5 Gene

ENSEMBL:
Gene Tree for NPIPA5 (if available)
TreeFam:
Gene Tree for NPIPA5 (if available)

Paralogs for NPIPA5 Gene

(21) SIMAP similar genes for NPIPA5 Gene using alignment to 3 proteins:

  • NPIA5_HUMAN
  • C9J9V8_HUMAN
  • E9PJ88_HUMAN
genes like me logo Genes that share paralogs with NPIPA5: view

Variants for NPIPA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPIPA5 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs886037884 Uncertain Significance: Oromandibular-limb hypogenesis spectrum 15,363,750(-) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for NPIPA5 Gene

Structural Variations from Database of Genomic Variants (DGV) for NPIPA5 Gene

Variant ID Type Subtype PubMed ID
dgv2755n100 CNV gain 25217958
esv2714015 CNV deletion 23290073
esv27929 CNV gain 19812545
nsv1038151 CNV loss 25217958
nsv1045440 CNV gain 25217958
nsv1115493 CNV duplication 24896259
nsv1120319 CNV tandem duplication 24896259
nsv1125134 CNV deletion 24896259
nsv1148675 CNV duplication 26484159
nsv435664 CNV deletion 17901297
nsv511045 OTHER complex 20534489
nsv833145 CNV gain 17160897
nsv833146 CNV gain 17160897
nsv974862 CNV duplication 23825009
nsv984269 CNV duplication 23825009

Variation tolerance for NPIPA5 Gene

Gene Damage Index Score: 4.84; 67.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPIPA5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPIPA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPIPA5 Gene

Disorders for NPIPA5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NPIPA5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cortical dysplasia, complex, with other brain malformations 1
  • cdcbm1
complex cortical dysplasia with other brain malformations
  • cdcbm
tracheomalacia
  • congenital tracheomalacia
tukel syndrome
  • fibrosis of extraocular muscles, congenital, with ulnar hand anomalies
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with NPIPA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPIPA5 Gene

Publications for NPIPA5 Gene

  1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3
  3. Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling. (PMID: 18055785) Hornan DM … Webster AR (Investigative ophthalmology & visual science 2007) 3
  4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang AG … Kim NS (Biochemical and biophysical research communications 2006) 3
  5. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 4

Products for NPIPA5 Gene

Sources for NPIPA5 Gene