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    TEX264 testis expressed 264, ER-phagy receptor [ Homo sapiens (human) ]

    Gene ID: 51368, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TEX264provided by HGNC
    Official Full Name
    testis expressed 264, ER-phagy receptorprovided by HGNC
    Primary source
    HGNC:HGNC:30247
    See related
    Ensembl:ENSG00000164081 MIM:620608; AllianceGenome:HGNC:30247
    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
    ZSIG11
    Summary
    Enables signaling receptor activity. Involved in protein-DNA covalent cross-linking repair. Acts upstream of or within reticulophagy. Located in several cellular components, including autophagosome membrane; endoplasmic reticulum membrane; and replication fork. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 25.1), kidney (RPKM 16.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TEX264 in Genome Data Viewer
    Location:
    3p21.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (51671252..51704323)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (51702770..51735833)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (51705268..51738339)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RAD54 like 2 Neighboring gene RNA, U6atac small nuclear 29, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51696703-51697203 Neighboring gene uncharacterized LOC124906237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:51712641-51713399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51721007-51721622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51724855-51725678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51725679-51726501 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51737956-51738824 Neighboring gene RNA, 5S ribosomal pseudogene 132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51750466-51751323 Neighboring gene glutamate metabotropic receptor 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:51776905-51777405 Neighboring gene uncharacterized LOC105377087 Neighboring gene IQ motif containing F6

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TEX264 drives selective autophagy of DNA lesions to promote DNA repair and cell survival.
      Title: TEX264 drives selective autophagy of DNA lesions to promote DNA repair and cell survival.
    2. TEX264 recognises both unmodified and SUMO1-modifed TOP1 and initiates TOP1cc repair by recruiting p97 and SPRTN.
      Title: TEX264 coordinates p97- and SPRTN-mediated resolution of topoisomerase 1-DNA adducts.
    3. A long intrinsically disordered region of TEX264 is required for its ER-phagy receptor function to bridge the gap between the ER and autophagosomal membranes independently of its amino acid sequence. These results suggest that TEX264 is a major ER-phagy receptor.
      Title: Intrinsically Disordered Protein TEX264 Mediates ER-phagy.
    4. TEX264, an endoplasmic reticulum (ER)resident protein, remodels subdomainsof the ER into ring-like structures inassociation with ATG8 proteins uponnutrient stress, which then fuse withlysosomes for ER turnover.
      Title: TEX264 Is an Endoplasmic Reticulum-Resident ATG8-Interacting Protein Critical for ER Remodeling during Nutrient Stress.
    Submit: New GeneRIF Correction

    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

    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

    • FLJ13935, DKFZp451H0417

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein-DNA covalent cross-linking repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein-DNA covalent cross-linking repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in reticulophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within reticulophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in reticulophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in autophagosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  
    is_active_in replication fork IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in replication fork IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    testis-expressed protein 264
    Names
    testis expressed gene 264
    testis-expressed sequence 264 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_001129884.3 → NP_001123356.1  testis-expressed protein 264 isoform 1

      See identical proteins and their annotated locations for NP_001123356.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 4, 5, and 7 encode the same isoform (1).
      Source sequence(s)
      AA463493, AY358972, BP252919
      Consensus CDS
      CCDS2833.1
      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9
      UniProtKB/TrEMBL
      Q53GI2
      Related
      ENSP00000408186.1, ENST00000457573.5
      Conserved Domains (1) summary
      cl01368
      Location:41 → 112
      GyrI-like; GyrI-like small molecule binding domain

    2. NM_001243725.2 → NP_001230654.1  testis-expressed protein 264 isoform 1

      See identical proteins and their annotated locations for NP_001230654.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 4, 5, and 7 encode the same isoform (1).
      Source sequence(s)
      AC099050, AY358972, BC008742
      Consensus CDS
      CCDS2833.1
      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9
      UniProtKB/TrEMBL
      Q53GI2
      Related
      ENSP00000378497.1, ENST00000395057.5
      Conserved Domains (1) summary
      cl01368
      Location:41 → 112
      GyrI-like; GyrI-like small molecule binding domain

    3. NM_001243726.2 → NP_001230655.1  testis-expressed protein 264 isoform 1

      See identical proteins and their annotated locations for NP_001230655.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 4, 5, and 7 encode the same isoform (1).
      Source sequence(s)
      AC099050, AY358972, BC001592, BC008742
      Consensus CDS
      CCDS2833.1
      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9
      UniProtKB/TrEMBL
      Q53GI2
      Related
      ENSP00000398802.1, ENST00000416589.5
      Conserved Domains (1) summary
      cl01368
      Location:41 → 112
      GyrI-like; GyrI-like small molecule binding domain

    4. NM_001243727.3 → NP_001230656.1  testis-expressed protein 264 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA463493, AY358972, BG772477, HY149215
      Consensus CDS
      CCDS74945.1
      UniProtKB/TrEMBL
      A0A087WTU3
      Related
      ENSP00000478139.1, ENST00000614067.4

    5. NM_001278195.2 → NP_001265124.1  testis-expressed protein 264 isoform 1

      See identical proteins and their annotated locations for NP_001265124.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 4, 5, and 7 encode the same isoform (1).
      Source sequence(s)
      AA463493, AY358972, BG772477, BI826172
      Consensus CDS
      CCDS2833.1
      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9
      UniProtKB/TrEMBL
      Q53GI2
      Related
      ENSP00000477946.1, ENST00000611400.4
      Conserved Domains (1) summary
      cl01368
      Location:41 → 112
      GyrI-like; GyrI-like small molecule binding domain

    6. NM_015926.6 → NP_057010.1  testis-expressed protein 264 isoform 1

      See identical proteins and their annotated locations for NP_057010.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 2, 4, 5, and 7 encode the same isoform.
      Source sequence(s)
      AA463493, AY358972, BG772477
      Consensus CDS
      CCDS2833.1
      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9
      UniProtKB/TrEMBL
      Q53GI2
      Related
      ENSP00000340969.5, ENST00000341333.10
      Conserved Domains (1) summary
      cl01368
      Location:41 → 112
      GyrI-like; GyrI-like small molecule binding domain

    RNA

    1. NR_024012.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AA463493, AY358972, BG772477

    2. NR_103462.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA463493, AY358972, CB142778

    3. NR_103463.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA463493, AY358972, CB142778

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      51671252..51704323
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448276.1 → XP_047304232.1  testis-expressed protein 264 isoform X1

    2. XM_047448278.1 → XP_047304234.1  testis-expressed protein 264 isoform X3

    3. XM_047448277.1 → XP_047304233.1  testis-expressed protein 264 isoform X2

      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9

    4. XM_017006574.3 → XP_016862063.2  testis-expressed protein 264 isoform X5

    5. XM_006713197.5 → XP_006713260.1  testis-expressed protein 264 isoform X2

      See identical proteins and their annotated locations for XP_006713260.1

      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9
      UniProtKB/TrEMBL
      Q53GI2
      Conserved Domains (1) summary
      cl01368
      Location:41 → 112
      GyrI-like; GyrI-like small molecule binding domain

    6. XM_011533805.3 → XP_011532107.1  testis-expressed protein 264 isoform X2

      See identical proteins and their annotated locations for XP_011532107.1

      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9
      UniProtKB/TrEMBL
      Q53GI2
      Conserved Domains (1) summary
      cl01368
      Location:41 → 112
      GyrI-like; GyrI-like small molecule binding domain

    7. XM_006713195.4 → XP_006713258.1  testis-expressed protein 264 isoform X2

      See identical proteins and their annotated locations for XP_006713258.1

      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9
      UniProtKB/TrEMBL
      Q53GI2
      Conserved Domains (1) summary
      cl01368
      Location:41 → 112
      GyrI-like; GyrI-like small molecule binding domain

    8. XM_006713198.2 → XP_006713261.1  testis-expressed protein 264 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      51702770..51735833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346776.1 → XP_054202751.1  testis-expressed protein 264 isoform X1

    2. XM_054346781.1 → XP_054202756.1  testis-expressed protein 264 isoform X3

    3. XM_054346777.1 → XP_054202752.1  testis-expressed protein 264 isoform X2

      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9

    4. XM_054346783.1 → XP_054202758.1  testis-expressed protein 264 isoform X5

    5. XM_054346778.1 → XP_054202753.1  testis-expressed protein 264 isoform X2

      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9

    6. XM_054346780.1 → XP_054202755.1  testis-expressed protein 264 isoform X2

      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9

    7. XM_054346779.1 → XP_054202754.1  testis-expressed protein 264 isoform X2

      UniProtKB/Swiss-Prot
      B3KN87, Q9UKD7, Q9Y6I9

    8. XM_054346782.1 → XP_054202757.1  testis-expressed protein 264 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6I9.1 GenPept UniProtKB/Swiss-Prot:Q9Y6I9

    Gene LinkOut

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

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