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    TSNAXIP1 translin associated factor X interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 55815, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TSNAXIP1provided by HGNC
    Official Full Name
    translin associated factor X interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:18586
    See related
    Ensembl:ENSG00000102904 MIM:607720; AllianceGenome:HGNC:18586
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TXI1
    Summary
    Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in testis (RPKM 14.4), brain (RPKM 1.0) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TSNAXIP1 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67806889..67828068)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73601912..73623850)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67840792..67861971)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67710969-67711925 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67711926-67712881 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:67717419-67718618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10980 Neighboring gene Gfo/Idh/MocA-like oxidoreductase domain containing 2 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:67743233-67744011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67744012-67744789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7624 Neighboring gene RAN binding protein 10 Neighboring gene Sharpr-MPRA regulatory region 12647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10984 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:67839586-67840206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:67840207-67840826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7626 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67851021-67851203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67859393-67860253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67876439-67877185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7629 Neighboring gene centromere protein T Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10991 Neighboring gene THAP domain containing 11 Neighboring gene nuclear transport factor 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Lack of association between translin-associated factor X gene (TSNAX) and methamphetamine dependence in the Japanese population. Kishi T, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2011 Aug 15. PMID 21683752
    2. Identification and characterization of cDNAs encoding four novel proteins that interact with translin associated factor-X. Bray JD, et al. Genomics, 2002 Jun. PMID 12036294
    3. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
    4. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111443

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    translin-associated factor X-interacting protein 1
    Names
    trax-interacting protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_054717.1 RefSeqGene

      Range
      5317..26496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288990.3 → NP_001275919.1  translin-associated factor X-interacting protein 1 isoform a

      See identical proteins and their annotated locations for NP_001275919.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AK301920, BC062628, BU607826
      Consensus CDS
      CCDS73903.1
      UniProtKB/TrEMBL
      B4DXD0, B4E1H3
      Related
      ENSP00000457241.1, ENST00000561639.6
      Conserved Domains (1) summary
      pfam15739
      Location:108 → 211
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    2. NM_001288991.3 → NP_001275920.1  translin-associated factor X-interacting protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the central coding region, compared to variant 1. The encoded isoform (c) is shorter, compared to isoform a.
      Source sequence(s)
      AK303841, BC062628, BC111018, BU607826
      Consensus CDS
      CCDS73904.1
      UniProtKB/TrEMBL
      B4E1H3, E7ENJ7
      Related
      ENSP00000411472.3, ENST00000415766.7
      Conserved Domains (1) summary
      pfam15739
      Location:92 → 142
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    3. NM_001288992.3 → NP_001275921.1  translin-associated factor X-interacting protein 1 isoform d

      See identical proteins and their annotated locations for NP_001275921.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a. Variants 4, 5, and 6 encode the same isoform.
      Source sequence(s)
      BC062628, BU607826

    4. NM_001288993.3 → NP_001275922.1  translin-associated factor X-interacting protein 1 isoform d

      See identical proteins and their annotated locations for NP_001275922.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a. Variants 4, 5, and 6 encode the same isoform.
      Source sequence(s)
      AF132730, BC062628, BU607826
      Related
      ENST00000487120.5

    5. NM_001288994.3 → NP_001275923.1  translin-associated factor X-interacting protein 1 isoform d

      See identical proteins and their annotated locations for NP_001275923.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus, compared to isoform a. Variants 4, 5, and 6 encode the same isoform.
      Source sequence(s)
      BC050693, BC062628, BU607826
      Related
      ENST00000565339.5

    6. NM_001351158.2 → NP_001338087.1  translin-associated factor X-interacting protein 1 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, initiates translation at an alternate start codon, lacks three exons, and uses an alternate in-frame splice site in its 5' coding region compared to variant 1. The encoded isoform (e) is shorter and has a distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC040162, BU607826
      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:73 → 123
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    7. NM_018430.4 → NP_060900.2  translin-associated factor X-interacting protein 1 isoform b

      See identical proteins and their annotated locations for NP_060900.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      BC062628, BC111018, BU607634
      Consensus CDS
      CCDS10846.2
      UniProtKB/Swiss-Prot
      Q2TAA8, Q9P105
      UniProtKB/TrEMBL
      B4E1H3
      Related
      ENSP00000373485.3, ENST00000388833.7
      Conserved Domains (2) summary
      pfam15739
      Location:54 → 157
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus
      cl25732
      Location:48 → 316
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      67806889..67828068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523230.3 → XP_011521532.1  translin-associated factor X-interacting protein 1 isoform X1

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:108 → 211
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    2. XM_011523232.3 → XP_011521534.1  translin-associated factor X-interacting protein 1 isoform X3

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:108 → 211
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    3. XM_011523233.3 → XP_011521535.1  translin-associated factor X-interacting protein 1 isoform X4

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:108 → 211
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    4. XM_011523231.3 → XP_011521533.1  translin-associated factor X-interacting protein 1 isoform X2

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:108 → 211
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    5. XM_011523234.3 → XP_011521536.1  translin-associated factor X-interacting protein 1 isoform X5

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:108 → 211
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    6. XM_005256049.5 → XP_005256106.1  translin-associated factor X-interacting protein 1 isoform X6

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:108 → 211
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    7. XM_011523239.2 → XP_011521541.1  translin-associated factor X-interacting protein 1 isoform X12

    8. XM_024450351.2 → XP_024306119.1  translin-associated factor X-interacting protein 1 isoform X16

    9. XM_011523236.4 → XP_011521538.1  translin-associated factor X-interacting protein 1 isoform X7

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:92 → 142
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    10. XM_017023445.3 → XP_016878934.1  translin-associated factor X-interacting protein 1 isoform X8

      UniProtKB/TrEMBL
      B4E1H3

    11. XM_017023447.3 → XP_016878936.1  translin-associated factor X-interacting protein 1 isoform X14

      UniProtKB/TrEMBL
      B4E1H3

    12. XM_017023449.3 → XP_016878938.1  translin-associated factor X-interacting protein 1 isoform X17

      UniProtKB/TrEMBL
      B4E1H3

    13. XM_011523237.3 → XP_011521539.1  translin-associated factor X-interacting protein 1 isoform X9

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:44 → 131
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    14. XM_011523238.2 → XP_011521540.1  translin-associated factor X-interacting protein 1 isoform X10

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:73 → 123
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    15. XM_024450350.2 → XP_024306118.1  translin-associated factor X-interacting protein 1 isoform X11

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      cl25732
      Location:46 → 282
      SMC_N; RecF/RecN/SMC N terminal domain

    16. XM_017023446.2 → XP_016878935.1  translin-associated factor X-interacting protein 1 isoform X13

      UniProtKB/TrEMBL
      B4E1H3

    17. XM_017023448.2 → XP_016878937.1  translin-associated factor X-interacting protein 1 isoform X15

      UniProtKB/TrEMBL
      B4E1H3
      Conserved Domains (1) summary
      pfam15739
      Location:73 → 123
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      73601912..73623850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313473.1 → XP_054169448.1  translin-associated factor X-interacting protein 1 isoform X1

    2. XM_054313475.1 → XP_054169450.1  translin-associated factor X-interacting protein 1 isoform X3

    3. XM_054313476.1 → XP_054169451.1  translin-associated factor X-interacting protein 1 isoform X4

    4. XM_054313474.1 → XP_054169449.1  translin-associated factor X-interacting protein 1 isoform X2

    5. XM_054313477.1 → XP_054169452.1  translin-associated factor X-interacting protein 1 isoform X5

    6. XM_054313478.1 → XP_054169453.1  translin-associated factor X-interacting protein 1 isoform X6

    7. XM_054313484.1 → XP_054169459.1  translin-associated factor X-interacting protein 1 isoform X12

    8. XM_054313488.1 → XP_054169463.1  translin-associated factor X-interacting protein 1 isoform X16

    9. XM_054313479.1 → XP_054169454.1  translin-associated factor X-interacting protein 1 isoform X7

    10. XM_054313480.1 → XP_054169455.1  translin-associated factor X-interacting protein 1 isoform X8

    11. XM_054313486.1 → XP_054169461.1  translin-associated factor X-interacting protein 1 isoform X14

    12. XM_054313489.1 → XP_054169464.1  translin-associated factor X-interacting protein 1 isoform X17

    13. XM_054313481.1 → XP_054169456.1  translin-associated factor X-interacting protein 1 isoform X9

    14. XM_054313482.1 → XP_054169457.1  translin-associated factor X-interacting protein 1 isoform X10

    15. XM_054313483.1 → XP_054169458.1  translin-associated factor X-interacting protein 1 isoform X11

    16. XM_054313485.1 → XP_054169460.1  translin-associated factor X-interacting protein 1 isoform X13

    17. XM_054313487.1 → XP_054169462.1  translin-associated factor X-interacting protein 1 isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TAA8.1 GenPept UniProtKB/Swiss-Prot:Q2TAA8

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