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Aliases for NIPSNAP1 Gene

Aliases for NIPSNAP1 Gene

  • Nipsnap Homolog 1 2 3 5
  • 4-Nitrophenylphosphatase Domain And Non-Neuronal SNAP25-Like 1 2
  • NIPSNAP, C. Elegans, Homolog 1 2
  • Nipsnap Homolog 1 (C. Elegans) 2
  • NipSnap1 4

External Ids for NIPSNAP1 Gene

Previous GeneCards Identifiers for NIPSNAP1 Gene

  • GC22M026646
  • GC22M028275
  • GC22M029952
  • GC22M012914

Summaries for NIPSNAP1 Gene

Entrez Gene Summary for NIPSNAP1 Gene

  • This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

GeneCards Summary for NIPSNAP1 Gene

NIPSNAP1 (Nipsnap Homolog 1) is a Protein Coding gene. Diseases associated with NIPSNAP1 include Phenylketonuria and Maple Syrup Urine Disease, Type Ii. Among its related pathways are Neuroscience and Ca, cAMP and Lipid Signaling. GO annotations related to this gene include neurotransmitter binding. An important paralog of this gene is NIPSNAP2.

Additional gene information for NIPSNAP1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NIPSNAP1 Gene

Genomics for NIPSNAP1 Gene

Regulatory Elements for NIPSNAP1 Gene

Enhancers for NIPSNAP1 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
GH22H029616 1.9 FANTOM5 Ensembl ENCODE dbSUPER 30.1 -41.4 -41378 11.6 PKNOX1 FOXA2 SIN3A FEZF1 YY1 ZNF121 ZNF143 FOS SP3 TSHZ1 THOC5 NIPSNAP1 RNU5F-5P GAS2L1 NF2 RPEP4 PIR57472
GH22H029552 1.1 ENCODE 19 +27.0 26982 3.5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 THOC5 EWSR1 SF3A1 TBC1D10A NIPSNAP1 ENSG00000272858 RNF215 CCDC117 RHBDD3 LOC91370
GH22H029479 1.5 FANTOM5 Ensembl ENCODE 7.6 +100.6 100641 4.5 ATF1 SIN3A BRCA1 ZNF766 GLIS2 ATF7 SP3 NCOA1 MIER2 REST THOC5 RFPL1 RNF215 RASL10A EWSR1 NEFH NIPSNAP1 ENSG00000282816
GH22H029689 0.9 ENCODE dbSUPER 10.9 -108.9 -108902 2.1 CTCF ZNF654 SIN3A REST ZIC2 ZNF2 RAD21 GATA3 GLIS1 SCRT2 NIPSNAP1 NF2 THOC5 PIR32963 GC22P029683 GC22P029684
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NIPSNAP1 on UCSC Golden Path with GeneCards custom track

Promoters for NIPSNAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145074 237 1001 HDGF ARID4B DMAP1 YY1 GLIS2 ZNF143 ATF7 RUNX3 PAF1 SP3

Transcription factor binding sites by QIAGEN in the NIPSNAP1 gene promoter:

Genomic Locations for NIPSNAP1 Gene

Genomic Locations for NIPSNAP1 Gene
26,530 bases
Minus strand

Genomic View for NIPSNAP1 Gene

Genes around NIPSNAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIPSNAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIPSNAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIPSNAP1 Gene

Proteins for NIPSNAP1 Gene

  • Protein details for NIPSNAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein NipSnap homolog 1
    Protein Accession:
    Secondary Accessions:
    • B2RAY3
    • O43800

    Protein attributes for NIPSNAP1 Gene

    284 amino acids
    Molecular mass:
    33310 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NIPSNAP1 Gene

Post-translational modifications for NIPSNAP1 Gene

  • Ubiquitination at Lys51, posLast=6666, posLast=193193, and posLast=253253
  • Modification sites at PhosphoSitePlus

Other Protein References for NIPSNAP1 Gene

No data available for DME Specific Peptides for NIPSNAP1 Gene

Domains & Families for NIPSNAP1 Gene

Gene Families for NIPSNAP1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NIPSNAP1 Gene


Suggested Antigen Peptide Sequences for NIPSNAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the NipSnap family.
  • Belongs to the NipSnap family.
genes like me logo Genes that share domains with NIPSNAP1: view

Function for NIPSNAP1 Gene

Molecular function for NIPSNAP1 Gene

GENATLAS Biochemistry:
putative peroxisomal protein,involved in vesicular transport,member 1 of a new gene-family,homolog to a hypothetical protein (P34492) from C elegans

Gene Ontology (GO) - Molecular Function for NIPSNAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17353931
GO:0042165 neurotransmitter binding IEA --
genes like me logo Genes that share ontologies with NIPSNAP1: view
genes like me logo Genes that share phenotypes with NIPSNAP1: view

Animal Models for NIPSNAP1 Gene

MGI Knock Outs for NIPSNAP1:

Animal Model Products

CRISPR Products

miRNA for NIPSNAP1 Gene

miRTarBase miRNAs that target NIPSNAP1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NIPSNAP1 Gene

Localization for NIPSNAP1 Gene

Subcellular locations from

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 NIPSNAP1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for NIPSNAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,ISS --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0097060 synaptic membrane IEA --
genes like me logo Genes that share ontologies with NIPSNAP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for NIPSNAP1 Gene

Pathways & Interactions for NIPSNAP1 Gene

genes like me logo Genes that share pathways with NIPSNAP1: view

Pathways by source for NIPSNAP1 Gene

2 Cell Signaling Technology pathways for NIPSNAP1 Gene

Gene Ontology (GO) - Biological Process for NIPSNAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019233 sensory perception of pain IEA,IBA --
genes like me logo Genes that share ontologies with NIPSNAP1: view

No data available for SIGNOR curated interactions for NIPSNAP1 Gene

Drugs & Compounds for NIPSNAP1 Gene

No Compound Related Data Available

Transcripts for NIPSNAP1 Gene

Unigene Clusters for NIPSNAP1 Gene

Nipsnap homolog 1 (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NIPSNAP1 Gene

No ASD Table

Relevant External Links for NIPSNAP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NIPSNAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NIPSNAP1 Gene

mRNA differential expression in normal tissues according to GTEx for NIPSNAP1 Gene

This gene is overexpressed in Liver (x5.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NIPSNAP1 Gene

Protein tissue co-expression partners for NIPSNAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NIPSNAP1 Gene:


SOURCE GeneReport for Unigene cluster for NIPSNAP1 Gene:


mRNA Expression by UniProt/SwissProt for NIPSNAP1 Gene:

Tissue specificity: Ubiquitous. Highest expression in liver.

Evidence on tissue expression from TISSUES for NIPSNAP1 Gene

  • Lung(4.5)
  • Liver(4.4)
  • Nervous system(4.4)
  • Intestine(4.3)
  • Eye(3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with NIPSNAP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NIPSNAP1 Gene

Orthologs for NIPSNAP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NIPSNAP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NIPSNAP1 33 34
  • 99.53 (n)
(Canis familiaris)
Mammalia NIPSNAP1 33 34
  • 92.67 (n)
(Bos Taurus)
Mammalia NIPSNAP1 33 34
  • 92.49 (n)
(Rattus norvegicus)
Mammalia Nipsnap1 33
  • 88.5 (n)
(Mus musculus)
Mammalia Nipsnap1 33 16 34
  • 87.56 (n)
(Ornithorhynchus anatinus)
Mammalia NIPSNAP1 34
  • 81 (a)
(Monodelphis domestica)
Mammalia mdo-mir-1546 34
  • 78 (a)
(Gallus gallus)
Aves NIPSNAP1 33
  • 82.31 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia nipsnap1 33
  • 72.52 (n)
Str.15493 33
(Danio rerio)
Actinopterygii nipsnap1 33 34
  • 72.27 (n)
nipsnap2 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9741 33
fruit fly
(Drosophila melanogaster)
Insecta Nipsnap 35 34
  • 48 (a)
(Caenorhabditis elegans)
Secernentea K02D10.1a 35
  • 38 (a)
K02D10.1b 35
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6771 34
  • 56 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08092 33
  • 48.27 (n)
Species where no ortholog for NIPSNAP1 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for NIPSNAP1 Gene

Gene Tree for NIPSNAP1 (if available)
Gene Tree for NIPSNAP1 (if available)

Paralogs for NIPSNAP1 Gene

Paralogs for NIPSNAP1 Gene

(1) SIMAP similar genes for NIPSNAP1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NIPSNAP1: view

Variants for NIPSNAP1 Gene

Sequence variations from dbSNP and Humsavar for NIPSNAP1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000062643 -- 29,579,088(+) TTTTT(C/T)TGTAG intron-variant
rs1000093507 -- 29,578,737(+) CATCC(C/G)CACTT intron-variant
rs1000239687 -- 29,558,220(+) ATCAC(A/G)GCACT intron-variant
rs1000335266 -- 29,572,272(+) CACTC(C/T)CGCCT intron-variant
rs1000371435 -- 29,577,145(+) GTGCA(C/G)TGACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NIPSNAP1 Gene

Variant ID Type Subtype PubMed ID
nsv834172 CNV loss 17160897
nsv521852 CNV loss 19592680
nsv1110864 OTHER inversion 24896259
esv3647541 CNV loss 21293372
esv3647540 CNV loss 21293372
esv3647539 CNV gain 21293372
esv2665021 CNV deletion 23128226

Variation tolerance for NIPSNAP1 Gene

Residual Variation Intolerance Score: 25.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NIPSNAP1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIPSNAP1 Gene

Disorders for NIPSNAP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NIPSNAP1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
  • følling's disease
maple syrup urine disease, type ii
  • dihydrolipoamide dehydrogenase deficiency
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NIPSNAP1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with NIPSNAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NIPSNAP1 Gene

Publications for NIPSNAP1 Gene

  1. Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family. (PMID: 9661659) Seroussi E … Dumanski JP (Gene 1998) 2 3 4 22 60
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  3. 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
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 60
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 60

Products for NIPSNAP1 Gene

Sources for NIPSNAP1 Gene

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