Gene Gene information from NCBI Gene database.
Entrez ID 79618
Gene name Homeobox containing 1
Gene symbol HMBOX1
Synonyms (NCBI Gene)
HNF1LAHOT1PBHNFTAH1
Chromosome 8
Chromosome location 8p21.1-p12
miRNA miRNA information provided by mirtarbase database.
392
miRTarBase ID miRNA Experiments Reference
MIRT006274 hsa-miR-30c-1-3p Luciferase reporter assayWestern blot 22320217
MIRT006274 hsa-miR-30c-1-3p Luciferase reporter assayWestern blot 22320217
MIRT006274 hsa-miR-30c-1-3p Luciferase reporter assayWestern blot 22320217
MIRT006274 hsa-miR-30c-1-3p Luciferase reporter assayWestern blot 22320217
MIRT006274 hsa-miR-30c-1-3p Luciferase reporter assayWestern blot 22320217
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 21839858
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000781 Component Chromosome, telomeric region IDA 23685356
GO:0000781 Component Chromosome, telomeric region IEA
GO:0000785 Component Chromatin ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618610 26137 ENSG00000147421
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6NT76
Protein name Homeobox-containing protein 1 (Homeobox telomere-binding protein 1) (Telomere-associated homeobox-containing protein 1)
Protein function Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA (PubMed:23685356, PubMed:23813958). Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation (PubMed:23685356). Important f
PDB 2CUF , 4J19
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04814 HNF-1_N 25 227 Hepatocyte nuclear factor 1 (HNF-1), N terminus Family
PF00046 Homeodomain 268 339 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Detected in pancreas, brain, spleen, placenta, prostate, thymus, liver, heart, bone marrow, skeletal muscle, stomach, uterus, testis, kidney, ovary, colon, lung, cardiac muscle and thyroid gland. {ECO:0000269|PubMed:1682576
Sequence
Sequence length 420
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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
OBESITY GWAS catalog
★★☆☆☆
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
Arteriosclerosis Arteriosclerosis BEFREE 31583496
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31583496
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 32814762 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 19728927 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 29709478
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 28628186
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 28628186
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 28731165
★☆☆☆☆
Found in Text Mining only
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE 46, XY Sex Reversal BEFREE 30358079
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of liver Liver Cancer BEFREE 30015890
★☆☆☆☆
Found in Text Mining only