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TSNAXIP1 Gene

protein-coding   GIFtS: 39
GCID: GC16P067840

Translin-Associated Factor X Interacting Protein 1

  Search for TSNAXIP1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Translin-Associated Factor X Interacting Protein 11 2
Trax-Interacting Protein 12 3
TXI12 3
Translin-Associated Factor X-Interacting Protein 12

External Ids:    HGNC: 185861   Entrez Gene: 558152   Ensembl: ENSG000001029047   OMIM: 6077205   UniProtKB: Q2TAA83   

Export aliases for TSNAXIP1 gene to outside databases

Previous GC identifers: GC16P058535 GC16P068218 GC16P067577 GC16P067617 GC16P066398 GC16P053713


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TSNAXIP1 Gene:
TSNAXIP1 (translin-associated factor X interacting protein 1) is a protein-coding gene.

UniProtKB/Swiss-Prot: TXIP1_HUMAN, Q2TAA8
Function: Possible role in spermatogenesis (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TSNAXIP1 gene promoter:
         Nkx3-1   AML1a   Tal-1   MIF-1   E47   Nkx3-1 v2   Egr-2   NRF-2   ATF   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTSNAXIP1 promoter sequence
   Search Chromatin IP Primers for TSNAXIP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TSNAXIP1


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.2

TSNAXIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSNAXIP1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P067840:  view genomic region     (about GC identifiers)

Start:
67,840,668 bp from pter      End:
67,866,051 bp from pter
Size:
25,384 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TXIP1_HUMAN, Q2TAA8 (See protein sequence)
Recommended Name: Translin-associated factor X-interacting protein 1  
Size: 658 amino acids; 76773 Da
Subunit: Interacts with TSNAX (By similarity)
Secondary accessions: Q9P105
Alternative splicing: 2 isoforms:  Q2TAA8-1   Q2TAA8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TSNAXIP1: NX_Q2TAA8

Explore proteomics data for TSNAXIP1 at MOPED


See TSNAXIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (6 alternative transcripts): 
NP_001275919.1  NP_001275920.1  NP_001275921.1  NP_001275922.1  NP_001275923.1  NP_060900.2  

ENSEMBL proteins: 
 ENSP00000411472   ENSP00000458938   ENSP00000455640   ENSP00000455011   ENSP00000457241  
 ENSP00000463792   ENSP00000454989   ENSP00000373485   ENSP00000464694   ENSP00000397147  
 ENSP00000464527  

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Search eBioscience for ELISAs for TSNAXIP1 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q2TAA8


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: TXIP1_HUMAN, Q2TAA8
Function: Possible role in spermatogenesis (By similarity)

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0005515protein binding ----
     
Find genes that share ontologies with TSNAXIP1           About GenesLikeMe


Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TSNAXIP1
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miRNA
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Predesigned siRNA for gene silencing in human, mouse, rat TSNAXIP1

Gene Editing
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OriGene clones in human, mouse for TSNAXIP1 (see all 7)
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: TSNAXIP1 (NM_018430)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for TSNAXIP1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSNAXIP1

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSNAXIP1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
TXIP1_HUMAN, Q2TAA8: Cytoplasm, perinuclear region (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
extracellular1
mitochondrion1
nucleus1
peroxisome1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0005737cytoplasm ----
GO:0048471perinuclear region of cytoplasm IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TSNAXIP1
Interactions:

    Search GeneGlobe Interaction Network for TSNAXIP1

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for TSNAXIP1 (Q2TAA83 ENSP000003734854) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
TSNAXQ995983, ENSP000003555994I2D: score=4 STRING: ENSP00000355599
About this table

Gene Ontology (GO): 4 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007275multicellular organismal development IEA--
GO:0007283spermatogenesis IEA--
GO:0008150biological_process ND--
GO:0030154cell differentiation IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for TSNAXIP1 (TXIP1)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for TSNAXIP1 gene (6 alternative transcripts): 
NM_001288990.1  NM_001288991.1  NM_001288992.1  NM_001288993.1  NM_001288994.1  NM_018430.3  

Unigene Cluster for TSNAXIP1:

Translin-associated factor X interacting protein 1
Hs.632212  [show with all ESTs]
Unigene Representative Sequence: BC111018
16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000415766 ENST00000466164 ENST00000568990(uc010cep.2 uc010vkb.2 uc002eug.4 uc002euh.4 uc002eui.4 uc002euk.3)
ENST00000487120(uc010vjz.1) ENST00000565339 ENST00000563363 ENST00000561639(uc010vka.2)
ENST00000567852 ENST00000565148 ENST00000388833(uc002euj.3) ENST00000562633
ENST00000561654 ENST00000569504(uc002euf.4) ENST00000431934 ENST00000562321
ENST00000565558
miRNA
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Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat TSNAXIP1
Clone
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OriGene ORF clones in mouse, rat for TSNAXIP1
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GenScript: all cDNA clones in your preferred vector: TSNAXIP1 (NM_018430)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TSNAXIP1
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TSNAXIP1
  QuantiTect SYBR Green Assays in human, mouse, rat TSNAXIP1
  QuantiFast Probe-based Assays in human, mouse, rat TSNAXIP1

Additional mRNA sequence: 

AK027245.1 AK301920.1 AK302300.1 AK303841.1 BC111018.1 BC131578.1 

9 DOTS entries:

DT.95162345  DT.97800511  DT.426358  DT.75160452  DT.95162346  DT.92070628  DT.101982969  DT.120718362 
DT.120718475 

Selected AceView cDNA sequences (see all 37):

BU607826 BP371196 CA440141 BC050693 BC051766 BX281228 BC062628 AL040508 
AI928510 AU279421 BC035320 AI808713 BI827241 BI825840 BI756600 AL040509 
NM_018430 AK027245 BI913018 BI826170 BM545958 AF132730 BI833405 BU607634 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for TSNAXIP1 (see all 9)    About this scheme

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^
SP1:                                                                                                                                                            
SP2:                                                  -           -                 -                                                                           
SP3:                                                  -           -     -     -     -                                                                           
SP4:                                                  -           -     -     -     -     -     -                                                               
SP5:                                                  -           -                                                                                             

ExUns: 15 ^ 16
SP1:            
SP2:            
SP3:            
SP4:            
SP5:            


ECgene alternative splicing isoforms for TSNAXIP1

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TSNAXIP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGCCAGGCCT
TSNAXIP1 Expression
About this image


TSNAXIP1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Eye (Sensory Organs)
         Retina
 
 Testis (Reproductive System)
TSNAXIP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TSNAXIP1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.632212
    Custom PCR Arrays for TSNAXIP1
Primer
Products:
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSNAXIP1

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for TSNAXIP1 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tsnaxip11 , 5 translin-associated factor X (Tsnax) interacting protein more1, 5 79.78(n)1
75.71(a)1
  8 (53.04 cM)5
722361  NM_024445.41  NP_077765.11 
 1058277445 
chicken
(Gallus gallus)
Aves TSNAXIP11 translin-associated factor X interacting protein 1 59.71(n)
50.92(a)
  769262  XM_001232497.3  XP_001232498.3 
lizard
(Anolis carolinensis)
Reptilia TSNAXIP16
translin-associated factor X interacting protein 1...
52(a)
1 ↔ 1
GL343295.1(692209-699057)
zebrafish
(Danio rerio)
Actinopterygii tsnaxip11 translin-associated factor X interacting protein 1 50.42(n)
37.39(a)
  565917  NM_001100100.1  NP_001093570.1 


ENSEMBL Gene Tree for TSNAXIP1 (if available)
TreeFam Gene Tree for TSNAXIP1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TSNAXIP1 (see all 426)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1821314831,2
--67842556(+) GAATCA/GCTTGA 1 -- int10--------
rs1858452561,2
--67842606(+) TCACGC/GCACTG 1 -- int10--------
rs1466937181,2
--67842699(+) AAAGAC/GAATTG 1 -- int10--------
rs594881591,2
C--67842731(+) TAGTAG/AACTGC 1 -- int11Minor allele frequency- A:0.50WA 2
rs1909928291,2
--67842840(+) ATCCCA/GATACT 1 -- int10--------
rs80476311,2
C,F--67843046(+) ttgtaG/Tcctgg 1 -- int11Minor allele frequency- T:0.18WA 118
rs1391227591,2
C--67843070(+) CCCTG-/TTGTCTA 1 -- int10--------
rs1474605071,2
C--67843095(+) TGGCCA/GGGCGT 1 -- int10--------
rs80475111,2
C,F--67843145(+) aggtgG/Cgcgga 1 -- int13Minor allele frequency- C:0.33NA 6
rs80475121,2
C,F--67843147(+) gtgcgT/Cggatc 1 -- int13Minor allele frequency- C:0.33NA 6

HapMap Linkage Disequilibrium report for TSNAXIP1 (67840668 - 67866051 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for TSNAXIP1:    About this table    
Variant IDTypeSubtypePubMed ID
dgv502e199CNV Deletion23128226
nsv524363CNV Loss19592680
nsv522852CNV Gain19592680

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing TSNAXIP1
DNA2.0 Custom Variant and Variant Library Synthesis for TSNAXIP1

(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.)
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OMIM gene information: 607720    OMIM disorders: --


Find genes that share disorders with TSNAXIP1           About GenesLikeMe


Export disorders for TSNAXIP1 gene to outside databases

(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)
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PubMed articles for TSNAXIP1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with TSNAXIP1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification and characterization of cDNAs encoding four novel proteins that interact with translin associated factor-X. (PubMed id 12036294)1, 3 Bray J.D.... Hecht N.B. (Genomics 2002)
  2. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
  3. Lack of association between translin-associated factor X gene (TSNAX) and methamphetamine dependence in the Japanese population. (PubMed id 21683752)1 Kishi T....Iwata N. (amp 2011)
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  8. (PubMed id )2 

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55815 HGNC: 18586 AceView: TSNAXIP1 Ensembl:ENSG00000102904 euGenes: HUgn55815
ECgene: TSNAXIP1 H-InvDB: TSNAXIP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for TSNAXIP1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for TSNAXIP1 gene:
Search GeneIP for patents involving TSNAXIP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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