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

Gene ID: 25851, updated on 5-Mar-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
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Genomic context

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Location:
7q21.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98214624..98252232, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (99444762..99482933, complement)
105.20220307 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
  • 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. The role of Tecpr1 in selective autophagy as a cargo receptor. Ogawa M, et al. Autophagy, 2011 Nov. PMID 21795850
  2. 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
  3. 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
  4. 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
  5. A mammalian autophagosome maturation mechanism mediated by TECPR1 and the Atg12-Atg5 conjugate. Chen D, et al. Mol Cell, 2012 Mar 9. PMID 22342342, Free PMC Article

See all (21) 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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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_2023_10

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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