NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008] See more...

Aliases for NIPSNAP3A Gene

Aliases for NIPSNAP3A Gene

  • Nipsnap Homolog 3A 2 3 5
  • Target For Salmonella Secreted Protein C 3 4
  • Protein NipSnap Homolog 3A 3 4
  • Protein NipSnap Homolog 4 3 4
  • NIPSNAP4 3 4
  • HSPC299 2 3
  • Nipsnap Homolog 3A (C. Elegans) 2
  • DKFZp564D177 2
  • NIPSNAP3A 5
  • NipSnap3A 4
  • FLJ13953 2
  • MGC14553 2
  • NipSnap4 4
  • TASSC 3
  • TassC 4

External Ids for NIPSNAP3A Gene

Previous GeneCards Identifiers for NIPSNAP3A Gene

  • GC09P102889
  • GC09P104589
  • GC09P106549
  • GC09P107509
  • GC09P077113

Summaries for NIPSNAP3A Gene

Entrez Gene Summary for NIPSNAP3A Gene

  • NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]

GeneCards Summary for NIPSNAP3A Gene

NIPSNAP3A (Nipsnap Homolog 3A) is a Protein Coding gene. An important paralog of this gene is NIPSNAP3B.

Additional gene information for NIPSNAP3A Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NIPSNAP3A Gene

Genomics for NIPSNAP3A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NIPSNAP3A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J104745 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 620.5 -0.2 -196 4.2 HNRNPL PRDM10 LEF1 IKZF1 KDM1A POLR2A BACH1 TARDBP ZHX2 JUND NIPSNAP3A LOC107987105 ABCA1 OR13D3P OR13D1
GH09J104763 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 20 +16.7 16718 2.4 FOXA1 RBFOX2 PATZ1 NR2C1 POLR2A SCRT2 KMT2B NONO KLF9 MGA NIPSNAP3B NIPSNAP3A RALGAPA1P1 FKTN lnc-NIPSNAP3B-2 ABCA1
GH09J104779 Enhancer 1 Ensembl ENCODE dbSUPER 29.3 +33.4 33418 3.4 CTCF REST RAD21 TRIM22 CEBPB RBM22 JUND NR2F2 FOSL2 RFX5 NIPSNAP3A lnc-NIPSNAP3B-2 NIPSNAP3B piR-33804-159 ABCA1
GH09J104784 Enhancer 0.8 Ensembl ENCODE dbSUPER 24.9 +36.5 36518 1.2 IKZF2 RBM22 SPI1 IKZF1 NIPSNAP3A lnc-NIPSNAP3B-2 NIPSNAP3B piR-33804-159 ABCA1
GH09J104772 Enhancer 1.1 ENCODE dbSUPER 14.5 +27.1 27140 3.8 SP1 ZNF512 LEF1 IKZF1 POLR2A JUND DDX20 MTA2 PHF21A PKNOX1 lnc-NIPSNAP3B-2 NIPSNAP3A NIPSNAP3B piR-33804-159 ABCA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NIPSNAP3A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NIPSNAP3A

Top Transcription factor binding sites by QIAGEN in the NIPSNAP3A gene promoter:
  • COMP1
  • Evi-1
  • GATA-2
  • ITF-2
  • Nkx6-1
  • POU3F2
  • PPAR-gamma1
  • PPAR-gamma2
  • Tal-1beta
  • TGIF

Genomic Locations for NIPSNAP3A Gene

Genomic Locations for NIPSNAP3A Gene
chr9:104,747,683-104,760,120
(GRCh38/hg38)
Size:
12,438 bases
Orientation:
Plus strand
chr9:107,509,969-107,522,403
(GRCh37/hg19)
Size:
12,435 bases
Orientation:
Plus strand

Genomic View for NIPSNAP3A Gene

Genes around NIPSNAP3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIPSNAP3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIPSNAP3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIPSNAP3A Gene

Proteins for NIPSNAP3A Gene

  • Protein details for NIPSNAP3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UFN0-NPS3A_HUMAN
    Recommended name:
    Protein NipSnap homolog 3A
    Protein Accession:
    Q9UFN0
    Secondary Accessions:
    • A6NM55
    • Q5VX32
    • Q9BRV7
    • Q9H843
    • Q9P083

    Protein attributes for NIPSNAP3A Gene

    Size:
    247 amino acids
    Molecular mass:
    28467 Da
    Quaternary structure:
    • Interacts with the Salmonella typhimurium virulence protein spiC.
    SequenceCaution:
    • Sequence=AAF28977.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for NIPSNAP3A Gene

Post-translational modifications for NIPSNAP3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NIPSNAP3A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Biorbyt antibodies for NIPSNAP3A
  • Boster Bio Antibodies for NIPSNAP3A

No data available for DME Specific Peptides for NIPSNAP3A Gene

Domains & Families for NIPSNAP3A Gene

Gene Families for NIPSNAP3A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NIPSNAP3A Gene

InterPro:
Blocks:
  • NIPSNAP
ProtoNet:

Suggested Antigen Peptide Sequences for NIPSNAP3A Gene

GenScript: Design optimal peptide antigens:
  • Target for Salmonella secreted protein C (NPS3A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UFN0

UniProtKB/Swiss-Prot:

NPS3A_HUMAN :
  • Belongs to the NipSnap family.
Family:
  • Belongs to the NipSnap family.
genes like me logo Genes that share domains with NIPSNAP3A: view

Function for NIPSNAP3A Gene

Phenotypes From GWAS Catalog for NIPSNAP3A Gene

Gene Ontology (GO) - Molecular Function for NIPSNAP3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21988832
genes like me logo Genes that share ontologies with NIPSNAP3A: view

Phenotypes for NIPSNAP3A Gene

genes like me logo Genes that share phenotypes with NIPSNAP3A: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NIPSNAP3A

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NIPSNAP3A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NIPSNAP3A Gene

Localization for NIPSNAP3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIPSNAP3A Gene

Cytoplasm, cytosol. Note=May be part of some vesicular structure distinct from lysosomal vesicles.

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 NIPSNAP3A gene
Compartment Confidence
mitochondrion 4
nucleus 4
cytosol 3
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NIPSNAP3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA 21873635
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with NIPSNAP3A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NIPSNAP3A Gene

Pathways & Interactions for NIPSNAP3A Gene

PathCards logo

SuperPathways for NIPSNAP3A Gene

No Data Available

Interacting Proteins for NIPSNAP3A Gene

Gene Ontology (GO) - Biological Process for NIPSNAP3A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NIPSNAP3A Gene

Drugs & Compounds for NIPSNAP3A Gene

No Compound Related Data Available

Transcripts for NIPSNAP3A Gene

mRNA/cDNA for NIPSNAP3A Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 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 NIPSNAP3A

Alternative Splicing Database (ASD) splice patterns (SP) for NIPSNAP3A Gene

No ASD Table

Relevant External Links for NIPSNAP3A Gene

GeneLoc Exon Structure for
NIPSNAP3A

Expression for NIPSNAP3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NIPSNAP3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NIPSNAP3A Gene

This gene is overexpressed in Fetal testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NIPSNAP3A Gene



Protein tissue co-expression partners for NIPSNAP3A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NIPSNAP3A

SOURCE GeneReport for Unigene cluster for NIPSNAP3A Gene:

Hs.530275

mRNA Expression by UniProt/SwissProt for NIPSNAP3A Gene:

Q9UFN0-NPS3A_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in liver, kidney and muscle. Expressed at intermediate level in brain, heart, colon, thymus, kidney, small intestine, placenta, lung, leukocytes and spleen.

Evidence on tissue expression from TISSUES for NIPSNAP3A Gene

  • Nervous system(4.8)
  • Bone marrow(4.2)
  • Liver(4.2)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with NIPSNAP3A: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NIPSNAP3A Gene

Orthologs for NIPSNAP3A Gene

This gene was present in the common ancestor of chordates.

Orthologs for NIPSNAP3A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NIPSNAP3A 30 31
  • 99.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NIPSNAP3A 30 31
  • 91.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC474791 30
  • 90.96 (n)
NIPSNAP3A 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Nipsnap3b 30 17
  • 83.94 (n)
Nipsnap3a 31
  • 76 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Nipsnap3b 30
  • 83.54 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 66 (a)
OneToMany
Chicken
(Gallus gallus)
Aves NIPSNAP3A 30
  • 72.98 (n)
-- 31
  • 66 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 58 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nipsnap3a 30
  • 65.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii nipsnap3 30 31
  • 62.16 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8944 31
  • 36 (a)
OneToMany
Species where no ortholog for NIPSNAP3A 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for NIPSNAP3A Gene

ENSEMBL:
Gene Tree for NIPSNAP3A (if available)
TreeFam:
Gene Tree for NIPSNAP3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NIPSNAP3A: view image

Paralogs for NIPSNAP3A Gene

Paralogs for NIPSNAP3A Gene

(1) SIMAP similar genes for NIPSNAP3A Gene using alignment to 1 proteins:

  • NPS3A_HUMAN
genes like me logo Genes that share paralogs with NIPSNAP3A: view

Variants for NIPSNAP3A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NIPSNAP3A Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs2274870 - p.Arg100Gln

Additional dbSNP identifiers (rs#s) for NIPSNAP3A Gene

Structural Variations from Database of Genomic Variants (DGV) for NIPSNAP3A Gene

Variant ID Type Subtype PubMed ID
esv3891705 CNV loss 25118596
esv3891706 CNV gain 25118596
nsv521783 CNV loss 19592680

Variation tolerance for NIPSNAP3A Gene

Residual Variation Intolerance Score: 81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.23; 52.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NIPSNAP3A Gene

Human Gene Mutation Database (HGMD)
NIPSNAP3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIPSNAP3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIPSNAP3A Gene

Disorders for NIPSNAP3A Gene

Additional Disease Information for NIPSNAP3A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for NIPSNAP3A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NIPSNAP3A Gene

Publications for NIPSNAP3A Gene

  1. Expression pattern and raft association of NIPSNAP3 and NIPSNAP4, highly homologous proteins encoded by genes in close proximity to the ATP-binding cassette transporter A1. (PMID: 15177564) Buechler C … Schmitz G (Genomics 2004) 2 3 23
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. Identification of a NIPSNAP homologue as host cell target for Salmonella virulence protein SpiC. (PMID: 12427096) Lee AH … Daefler S (Cellular microbiology 2002) 3 4

Products for NIPSNAP3A Gene

  • Biorbyt antibodies for NIPSNAP3A
  • Signalway Proteins for NIPSNAP3A

Sources for NIPSNAP3A Gene