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    TECPR1 tectonin beta-propeller repeat containing 1 [ Homo sapiens (human) ]

    Gene ID: 25851, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TECPR1provided by HGNC
    Official Full Name
    tectonin beta-propeller repeat containing 1provided by HGNC
    Primary source
    HGNC:HGNC:22214
    See related
    Ensembl:ENSG00000205356 MIM:614781; AllianceGenome:HGNC:22214
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in spleen (RPKM 7.5), brain (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TECPR1 in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98214624..98252232, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (99444762..99482933, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (97843936..97881544, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 478, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:97652101-97652600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97663350-97663858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97663859-97664366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:97677616-97678116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:97678117-97678617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97761703-97762203 Neighboring gene lemur tyrosine kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97792559-97793068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97793069-97793577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97794853-97795370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97795371-97795886 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:97822203-97822367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:97859339-97859992 Neighboring gene basic helix-loop-helix family member a15 Neighboring gene MPRA-validated peak6653 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97870078-97870980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97881191-97881934 Neighboring gene uncharacterized LOC124901706 Neighboring gene Sharpr-MPRA regulatory region 13100 Neighboring gene uncharacterized LOC124901705

    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. TECPR1 is activated by damage-induced sphingomyelin exposure to mediate noncanonical autophagy. Kaur N, et al. EMBO J, 2023 Sep 4. PMID 37409525, Free PMC Article
    2. The role of Tecpr1 in selective autophagy as a cargo receptor. Ogawa M, et al. Autophagy, 2011 Nov. PMID 21795850
    3. TECPR1 Induces Apoptosis in Non-Small Cell Lung Carcinoma via ATG5 Upregulation-Induced Autophagy Promotion. Cao L, et al. Ann Clin Lab Sci, 2022 Jul. PMID 36197771
    4. TECPR1 promotes aggrephagy by direct recruitment of LC3C autophagosomes to lysosomes. Wetzel L, et al. Nat Commun, 2020 Jun 12. PMID 32532970, Free PMC Article
    5. ATG5 cancer mutations and alternative mRNA splicing reveal a conjugation switch that regulates ATG12-ATG5-ATG16L1 complex assembly and autophagy. Wible DJ, et al. Cell Discov, 2019. PMID 31636955, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TECPR1 is activated by damage-induced sphingomyelin exposure to mediate noncanonical autophagy.
      Title: TECPR1 is activated by damage-induced sphingomyelin exposure to mediate noncanonical autophagy.
    2. TECPR1 Induces Apoptosis in Non-Small Cell Lung Carcinoma via ATG5 Upregulation-Induced Autophagy Promotion.
      Title: TECPR1 Induces Apoptosis in Non-Small Cell Lung Carcinoma via ATG5 Upregulation-Induced Autophagy Promotion.
    3. TECPR1 promotes aggrephagy by direct recruitment of LC3C autophagosomes to lysosomes.
      Title: TECPR1 promotes aggrephagy by direct recruitment of LC3C autophagosomes to lysosomes.
    4. The concerted interactions among TECPR1, Atg12-Atg5, and PtdIns(3)P provide the fusion specificity between autophagosomes and lysosomes and that the assembly of this complex initiates the autophagosome maturation process.
      Title: A mammalian autophagosome maturation mechanism mediated by TECPR1 and the Atg12-Atg5 conjugate.
    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

    • FLJ23419, FLJ90593, DKFZP434B0335

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3-phosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autophagosome maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autophagosome maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in autophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of autophagosome maturation 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 cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of protein-containing complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tectonin beta-propeller repeat-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_015395.3 → NP_056210.1  tectonin beta-propeller repeat-containing protein 1

      See identical proteins and their annotated locations for NP_056210.1

      Status: REVIEWED

      Source sequence(s)
      AC091654
      Consensus CDS
      CCDS47648.1
      UniProtKB/Swiss-Prot
      A8KAD1, B3KPZ1, C9J024, F5GX57, Q7Z6L1, Q96EB0, Q9P2I9, Q9UFR6
      Related
      ENSP00000404923.2, ENST00000447648.7
      Conserved Domains (6) summary
      smart00694
      Location:888 → 921
      DysFC; Dysferlin domain, C-terminal region
      smart00693
      Location:64 → 125
      DysFN; Dysferlin domain, N-terminal region
      smart00706
      Location:327 → 361
      TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
      cd13300
      Location:604 → 724
      PH1_TECPR1; Tectonin beta-propeller repeat-containing protein 1 Pleckstrin homology (PH) domain, repeat 1
      pfam00169
      Location:610 → 716
      PH; PH domain
      pfam06462
      Location:303 → 331
      Hyd_WA; Propeller

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      98214624..98252232 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420119.1 → XP_047276075.1  tectonin beta-propeller repeat-containing protein 1 isoform X2

    2. XM_005250253.5 → XP_005250310.1  tectonin beta-propeller repeat-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005250310.1

      UniProtKB/Swiss-Prot
      A8KAD1, B3KPZ1, C9J024, F5GX57, Q7Z6L1, Q96EB0, Q9P2I9, Q9UFR6
      Conserved Domains (6) summary
      smart00694
      Location:888 → 921
      DysFC; Dysferlin domain, C-terminal region
      smart00693
      Location:64 → 125
      DysFN; Dysferlin domain, N-terminal region
      smart00706
      Location:327 → 361
      TECPR; Beta propeller repeats in Physarum polycephalum tectonins, Limulus lectin L-6 and animal hypothetical proteins
      cd13300
      Location:604 → 724
      PH1_TECPR1; Tectonin beta-propeller repeat-containing protein 1 Pleckstrin homology (PH) domain, repeat 1
      pfam00169
      Location:610 → 716
      PH; PH domain
      pfam06462
      Location:303 → 331
      Hyd_WA; Propeller

    3. XM_017011937.2 → XP_016867426.1  tectonin beta-propeller repeat-containing protein 1 isoform X2

    RNA

    1. XR_428174.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      99444762..99482933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357767.1 → XP_054213742.1  tectonin beta-propeller repeat-containing protein 1 isoform X2

    2. XM_054357765.1 → XP_054213740.1  tectonin beta-propeller repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8KAD1, B3KPZ1, C9J024, F5GX57, Q7Z6L1, Q96EB0, Q9P2I9, Q9UFR6

    3. XM_054357766.1 → XP_054213741.1  tectonin beta-propeller repeat-containing protein 1 isoform X2

    RNA

    1. XR_008487555.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z6L1.1 GenPept UniProtKB/Swiss-Prot:Q7Z6L1

    Gene LinkOut

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

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