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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NIPSNAP1 Gene

protein-coding   GIFtS: 55
GCID: GC22M029952

nipsnap homolog 1 (C. elegans)

(Previous names: NIPSNAP, C. elegans, homolog 1 )
 Explore 3 diseases affiliated with
NIPSNAP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NIPSNAP1    

Aliases
for NIPSNAP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nipsnap Homolog 1 (C. Elegans)1 2
NIPSNAP, C. Elegans, Homolog 11
4-Nitrophenylphosphatase Domain And Non-Neuronal SNAP25-Like 12
Protein NipSnap Homolog 12
NipSnap13

External Ids:    HGNC: 78271   Entrez Gene: 85082   Ensembl: ENSG000001841177   OMIM: 6032495   UniProtKB: Q9BPW83   

Export aliases for NIPSNAP1 gene to outside databases

Previous GC identifers: GC22M026646 GC22M028275 GC22M012914


Summaries
for NIPSNAP1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NIPSNAP1:
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)




Genomic Views
for NIPSNAP1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NIPSNAP1 gene promoter:
         AP-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NIPSNAP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NIPSNAP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NIPSNAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12

NIPSNAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NIPSNAP1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M029952:  view genomic region     (about GC identifiers)

Start:
 29,950,797 bp from pter      End:
 29,977,326 bp from pter
Size:
 26,530 bases      Orientation:
 minus strand

Proteins
for NIPSNAP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NIPS1_HUMAN, Q9BPW8 (See protein sequence)
Recommended Name: Protein NipSnap homolog 1  
Size: 284 amino acids; 33310 Da
Secondary accessions: B2RAY3 O43800

Explore the universe of human proteins at neXtProt for NIPSNAP1: NX_Q9BPW8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BPW8

    • NIPSNAP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001189431.1  NP_003625.2  

    ENSEMBL proteins: 
     ENSP00000216121   ENSP00000407851   ENSP00000403448   ENSP00000404227  

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    Uscn Proteins for NIPSNAP1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0097060synaptic membrane IEA--


    NIPSNAP1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for NIPSNAP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NIPSNAP1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR012577 NIPSNAP
     IPR011008 Dimeric_a/b-barrel

    Graphical View of Domain Structure for InterPro Entry Q9BPW8

    ProtoNet protein and cluster: Q9BPW8

    1 Blocks protein family: IPB012577 NIPSNAP

    UniProtKB/Swiss-Prot: NIPS1_HUMAN, Q9BPW8
    Similarity: Belongs to the NipSnap family


    Function
    for NIPSNAP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:
         Genatlas biochemistry entry for NIPSNAP1:
    putative peroxisomal protein,involved in vesicular transport,member 1 of a new gene-family,homolog to a hypothetical
    protein (P34492) from C elegans

    miRNA
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    hsa-miR-1206 hsa-miR-202 hsa-miR-26b* hsa-miR-1285 hsa-miR-612 hsa-miR-214 hsa-miR-378* hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmid: NIPSNAP1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042165neurotransmitter binding IEA--


    NIPSNAP1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Nipsnap1tm1Eoa for NIPSNAP1
         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Nipsnap1):
     behavior/neurological  hematopoietic system  homeostasis/metabolism  integument 

    NIPSNAP1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NIPSNAP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NIPSNAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/18 Interacting proteins for NIPSNAP1 (Q9BPW82, 3 ENSP000002161214) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RGS2P412202, 3, ENSP000002353824MINT-63736 MINT-8268867 I2D: score=5 STRING: ENSP00000235382
    DBIP071082, 3, ENSP000003111174MINT-8263775 I2D: score=2 STRING: ENSP00000311117
    TBC1D17Q9HA652, 3, ENSP000002215434MINT-65306 I2D: score=3 STRING: ENSP00000221543
    GABARAPL2P605203, ENSP000000372434I2D: score=3 STRING: ENSP00000037243
    GBASO753233, ENSP000003130504I2D: score=3 STRING: ENSP00000313050
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019233sensory perception of pain IEA--


    NIPSNAP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NIPSNAP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NIPSNAP1
    Search CenterWatch for drugs/clinical trials and news about NIPSNAP1 / NIPS1 

    Transcripts
    for NIPSNAP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NIPSNAP1 gene (2 alternative transcripts): 
    NM_001202502.1  NM_003634.3  

    Unigene Cluster for NIPSNAP1:

    Nipsnap homolog 1 (C. elegans)
    Hs.173878  [show with all ESTs]
    Unigene Representative Sequence: NM_003634
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216121(uc011akp.2 uc003afx.4) ENST00000415100 ENST00000437094
    ENST00000455496 ENST00000496944 ENST00000494966

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    hsa-miR-1206 hsa-miR-202 hsa-miR-26b* hsa-miR-1285 hsa-miR-612 hsa-miR-214 hsa-miR-378* hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmid: NIPSNAP1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AJ001258.1 AK098367.1 AK290953.1 AK298816.1 AK314407.1 BC002371.2 BC006473.1 BC018869.2 

    24/32 DOTS entries (see all 32):

    DT.219149  DT.100886737  DT.100886735  DT.95366088  DT.100886756  DT.100886751  DT.100886773  DT.100886763 
    DT.100886772  DT.92445612  DT.100717693  DT.100843585  DT.100886759  DT.120651303  DT.120651413  DT.97833359 
    DT.99958133  DT.100030487  DT.100695068  DT.100886738  DT.100886745  DT.100886747  DT.100886752  DT.100886764 

    24/761 AceView cDNA sequences (see all 761):

    BF968938 BM771070 CR600931 Z98516 BM758384 CR598880 AV645951 F11739 
    CB159722 BC006473 BU191992 AI538702 CR623297 BU740285 BM457603 BI517481 
    BQ004568 AW340285 BM765030 AI833296 BP357856 AA740561 BM725483 AV645475 

    GeneLoc Exon Structure


    Expression
    for NIPSNAP1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NIPSNAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACCCTTGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NIPSNAP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See NIPSNAP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NIPSNAP1

    SOURCE GeneReport for Unigene cluster: Hs.173878

    UniProtKB/Swiss-Prot: NIPS1_HUMAN, Q9BPW8
    Tissue specificity: Ubiquitous. Highest expression in liver

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    In Situ
    Assay Products:     
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    Orthologs
    for NIPSNAP1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for NIPSNAP1 gene from 4/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NIPSNAP11 nipsnap homolog 1 (C. elegans) 82.97(n)
    89.34(a)    		   417018  XM_415308.3  XP_415308.3 
    African clawed frog
    (Xenopus laevis)    		 Amphibia BX850790.12   -- 77.7(n)    BX850790.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii nipsnap22 nipsnap2 77.11(n)   30232  AJ249797.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Nipsnap3 4-nitrophenylphosphatase 48(a)     --


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

    Paralogs
    for NIPSNAP1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NIPSNAP1 gene
    NIPSNAP3B2  GBAS2  NIPSNAP3A2  
    1 SIMAP similar gene for NIPSNAP1 using alignment to 4 protein entries:     NIPS1_HUMAN (see all proteins):
    GBAS

    NIPSNAP1 for paralogs           About GeneDecksing



    Genomic Variants
    for NIPSNAP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/526 NCBI SNPs in NIPSNAP1 are shown (see all 526)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1892587291,2
    		--29950298(+) TGTACA/GGGGCC 6 -- ds5001 us2k10--------
    rs1923954601,2
    		--29950330(+) GCAAGA/GAGGAA 6 -- ds5001 us2k10--------
    rs1506814491,2
    		--29950412(+) GTGGCA/GCAATC 6 -- ds5001 us2k10--------
    rs96139521,2
    		C,F,--29950725(+) GACTAA/CGCCCA 6 -- us2k1 ds50015Minor allele frequency- C:0.10NA 128
    rs1399083071,2
    		--29950762(+) CACCTC/GCTAAA 6 -- us2k1 ds50010--------
    rs1447910031,2
    		--29950937(+) CTCCCA/GCCACC 6 -- us2k1 ut310--------
    rs1847666911,2
    		--29951027(+) GAACAA/GGGTCT 6 -- us2k1 ut310--------
    rs60061891,2
    		C,--29951064(+) AGGGAG/AGGCAG 6 -- us2k1 ut31 trp31Minor allele frequency- A:0.01WA 118
    rs1456619491,2
    		--29951136(+) GGAAA-/CCAGCC 6 -- us2k1 ut310--------
    rs1510332991,2
    		C,--29951204(+) CTCTG-/TTCTTCTT 6 -- us2k1 ut310--------

    HapMap Linkage Disequilibrium report for NIPSNAP1 (29950797 - 29977326 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NIPSNAP1
         1 CNV: 91022
    Human Gene Mutation Database (HGMD): NIPSNAP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NIPSNAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for NIPSNAP1

    Disorders / Diseases
    for NIPSNAP1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NIPSNAP1 for disorders           About GeneDecksing

    OMIM gene information: 603249    OMIM disorders: --

    3 diseases for NIPSNAP1:    About MalaCards
    maple syrup urine disease    phenylketonuria    neuronitis

    1 disease from the University of Copenhagen DISEASES database for NIPSNAP1:
    Maple syrup urine disease
    Human Genome Epidemiology (HuGE) Navigator: NIPSNAP1 (2 documents)

    Export disorders for NIPSNAP1 gene to outside databases

    Publications
    for NIPSNAP1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NIPSNAP1 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with NIPSNAP1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family. (PubMed id 9661659)1, 2, 3, 9 Seroussi E....Dumanski J.P. (1998)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    4. Identification of NIPSNAP1 as a nocistatin-interacting protein involving pain transmission. (PubMed id 22311985)1 Okuda-Ashitaka E....Ito S. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
    10. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (2010)

    External Searches for NIPSNAP1 gene

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    Genome Databases showing NIPSNAP1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8508 HGNC: 7827 AceView: NIPSNAP1andC22orf19 Ensembl:ENSG00000184117 euGenes: HUgn8508
    ECgene: NIPSNAP1 H-InvDB: NIPSNAP1

    Other Databases showing NIPSNAP1 gene

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    Specialized Databases showing NIPSNAP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for NIPSNAP1 Pharmacogenomics, SNPs, Pathways

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