Gene Gene information from NCBI Gene database.
Entrez ID 25851
Gene name Tectonin beta-propeller repeat containing 1
Gene symbol TECPR1
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7q21.3
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]
miRNA miRNA information provided by mirtarbase database.
122
miRTarBase ID miRNA Experiments Reference
MIRT018009 hsa-miR-335-5p Microarray 18185580
MIRT670032 hsa-miR-4418 HITS-CLIP 23824327
MIRT670031 hsa-miR-509-3-5p HITS-CLIP 23824327
MIRT670030 hsa-miR-509-5p HITS-CLIP 23824327
MIRT670029 hsa-miR-6890-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000421 Component Autophagosome membrane IBA
GO:0000421 Component Autophagosome membrane IDA 21575909, 22342342
GO:0000421 Component Autophagosome membrane IEA
GO:0005515 Function Protein binding IPI 20562859, 21575909, 22342342, 32296183, 33961781
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614781 22214 ENSG00000205356
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z6L1
Protein name Tectonin beta-propeller repeat-containing protein 1
Protein function Tethering factor involved in autophagy. Involved in autophagosome maturation by promoting the autophagosome fusion with lysosomes: acts by associating with both the ATG5-ATG12 conjugate and phosphatidylinositol-3-phosphate (PtdIns(3)P) present a
PDB 4TQ1 , 8P5P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06398 Pex24p 55 165 Integral peroxisomal membrane peroxin Family
PF06462 Hyd_WA 210 239 Propeller Family
PF19193 Tectonin 288 392 Tectonin domain Domain
PF06398 Pex24p 804 916 Integral peroxisomal membrane peroxin Family
PF06462 Hyd_WA 954 983 Propeller Family
PF06462 Hyd_WA 999 1028 Propeller Family
PF06462 Hyd_WA 1045 1074 Propeller Family
PF06462 Hyd_WA 1088 1126 Propeller Family
Sequence
MPNSVLWAVDLFGRVYTLSTAGQYWEMCKDSQLEFKRVSATTQCCWGIACDNQVYVYVCA
SDVPIRRREEAYENQRWNPMGGFCEKLLLSDRWGWSDVSGLQHRPLDRVALPSPHWEWES
DWYVDENFGGEPTEKGGWTYAIDFPATYTKDKKWNSCVRRRKWIR
YRRYKSRDIWAKIPS
KDDPKELPDPFNDLSVGGWEITEEPVGRLSVWAVSLQGKVWYREDVSHSNPEGSSWSLLD
TPGEVVQISCGPHDLLWATLWEGQALVREGINRSNPKGSSWSIVEPPGSENGVMHISVGV
SVVWAVTKDWKVWFRRGVNSHNPCGTSWIEMVGEMTMVNVGMNDQVWGIGCEDRAVYFRQ
GVTPSELSGKTWKAIIAARECDRSHSGSSSSL
LSAGCFFGDEVRGSGESAPSDTDASSEV
ERPGPGQILPAEPLDDSKNATGNSASGLGAGRTAEDTVEDACPAEGSREARPNTHPGPAP
TPAELPWTNIDLKEAKKVPSHSAAGFPETTSLSSLGLLPLGLEEPYGVDDHPLWAWVSGG
GCVVEACAMPRWFTVQAGLSSSVHMLSLSITPAQTAAWRKQIFQQLTERTKRELENFRHY
EQAVEQSVWVKTGALQWWCDWKPHKWVDVRLALEQFTGHDGVRDSILFIYYVVHEEKKYI
HIFLNEVVALVPVLNETKHSFALYTPERTRQRWPVRLAAATEQDMNDWLALLSLSCCESR
KVQGRPSPQAIWSITCKGDIFVSEPSPDLEAHEHPLPCDQMFWRQMGGHLRMVEANSRGV
VWGIGYDHTAWVYTGGYGGGCFQGLASSTSNIYTQSDVKCVHIYENQRWNPVTGYTSRGL
PTDRYMWSDASGLQECTKAGTKPPSLQWAWVSDWFVDFSVPGGTDQEGWQYASDFPASYH
GSKTMKDFVRRRCWAR
KCKLVTSGPWLEVPPIALRDVSIIPESPGAEGSGHSIALWAVSD
KGDVLCRLGVSELNPAGSSWLHV
GTDQPFASISIGACYQVWAVARDGSAFYRGSVYPSQP
AGDCWYHI
PSPPRQRLKQVSAGQTSVYALDENGNLWYRQGITPSYPQGSSWEHVSNNVCR
VSVGPLDQVWVIANKVQGSHSLSRGTVCHRTGVQPHEPKGHGWDYGIGGGWDHISVRANA
TRAPRSSSQEQEPSAPPEAHGPVCC
Sequence length 1165
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Shigellosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Esophageal atresia/tracheoesophageal fistula Likely pathogenic rs767020833 RCV001172303
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moyamoya angiopathy Likely pathogenic rs376512300 RCV004704511
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 28381171 Inhibit
★☆☆☆☆
Found in Text Mining only