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    TEX35 testis expressed 35 [ Homo sapiens (human) ]

    Gene ID: 84066, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TEX35provided by HGNC
    Official Full Name
    testis expressed 35provided by HGNC
    Primary source
    HGNC:HGNC:25366
    See related
    Ensembl:ENSG00000240021 AllianceGenome:HGNC:25366
    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
    TSC24; C1orf49
    Summary
    Located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 26.3) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q25.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (178513109..178523510)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (177867832..177878233)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (178482244..178492645)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RAS protein activator like 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:178452792-178452968 Neighboring gene MPRA-validated peak476 silencer Neighboring gene uncharacterized LOC101928866 Neighboring gene negCOR silencer S4 Neighboring gene C-type lectin domain containing 20A Neighboring gene uncharacterized LOC105371631 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:178505524-178506723 Neighboring gene uncharacterized LOC124904460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1577

    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
    • 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. Identification and characteristics of a novel testis-specific gene, Tsc24, in human and mice. Tang A, et al. Biol Pharm Bull, 2006 Nov. PMID 17077512
    2. Interactome of the negative regulator of nuclear import BRCA1-binding protein 2. Fatima S, et al. Sci Rep, 2015 Mar 30. PMID 25820252, Free PMC Article
    3. Characterization of the pVHL Interactome in Human Testis Using High-Throughput Library Screening. Falconieri A, et al. Cancers (Basel), 2022 Feb 17. PMID 35205757, Free PMC Article
    4. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    5. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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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    Homology

    Clone Names

    • FLJ40199, MGC26863, DKFZp564J047

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    testis-expressed protein 35
    Names
    Testis-Specific Conserved gene 24kDa
    testis-expressed sequence 35 protein

    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.

    mRNA and Protein(s)

    1. NM_001170722.2 → NP_001164193.1  testis-expressed protein 35 isoform 2

      See identical proteins and their annotated locations for NP_001164193.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, and differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL136694, AL513013, BC034972
      Consensus CDS
      CCDS53434.1
      UniProtKB/Swiss-Prot
      Q5T0J7
      Related
      ENSP00000356611.1, ENST00000367639.1
      Conserved Domains (1) summary
      pfam15079
      Location:1 → 204
      Tsc35; Testis-specific protein 35

    2. NM_001170723.2 → NP_001164194.1  testis-expressed protein 35 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL136694, AW340027, BE041517, BI825610
      Consensus CDS
      CCDS53433.1
      UniProtKB/Swiss-Prot
      Q5T0J7
      Related
      ENSP00000356615.3, ENST00000367643.7
      Conserved Domains (1) summary
      pfam15079
      Location:1 → 198
      Tsc35; Testis-specific protein 35

    3. NM_001170724.2 → NP_001164195.1  testis-expressed protein 35 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL136694, AL513013, BI461686
      UniProtKB/Swiss-Prot
      Q5T0J7
      Conserved Domains (1) summary
      pfam15079
      Location:1 → 196
      Tsc35; Testis-specific protein 35

    4. NM_032126.5 → NP_115502.2  testis-expressed protein 35 isoform 1

      See identical proteins and their annotated locations for NP_115502.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL136694, AL552172, AW628627
      Consensus CDS
      CCDS1323.1
      UniProtKB/Swiss-Prot
      Q5T0J7, Q5T0J8, Q5T0J9, Q8IYU6, Q8N7Z1, Q8NA15, Q9H0Q7
      Related
      ENSP00000323795.2, ENST00000319416.7
      Conserved Domains (1) summary
      pfam15079
      Location:1 → 202
      Tsc35; Testis-specific protein 35

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      178513109..178523510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      177867832..177878233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T0J7.1 GenPept UniProtKB/Swiss-Prot:Q5T0J7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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