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

Summary

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
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

Location:: 7q21.3

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (98214624..98252235, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (97843936..97881544, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TECPR1 promotes aggrephagy by direct recruitment of LC3C autophagosomes to lysosomes.
Title: TECPR1 promotes aggrephagy by direct recruitment of LC3C autophagosomes to lysosomes.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48510 (e-PCR)
- UniSTS:67333

D8S2279 (e-PCR)
- UniSTS:473907

Homology

Homologs of the TECPR1 gene: The TECPR1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 343 organisms have orthologs with human gene TECPR1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
phosphatidylinositol-3-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
phosphatidylinositol-3-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
autophagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
autophagy	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
autophagosome membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
autophagosome membrane	IDA Inferred from Direct Assay more info	PubMed
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
integral component of membrane	IEA Inferred from Electronic Annotation more info
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info

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)

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

Q7Z6L1

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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p13 Primary Assembly

Range

98214624..98252235 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005250253.4 → 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

Q7Z6L1

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
XM_017011937.1 → XP_016867426.1 tectonin beta-propeller repeat-containing protein 1 isoform X2
XM_017011938.1 → XP_016867427.1 tectonin beta-propeller repeat-containing protein 1 isoform X3