Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases N.A.
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions TF
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000147421 Gene ID 79618 Accession 26137
Symbol HMBOX1 Alias HOT1;TAH1;PBHNF;HNF1LA Full Name homeobox containing 1
Status Confidence Length 174370 bases Strand Plus strand
Position 8 : 28890395 - 29064764 RNA binding domain N.A.
Summary Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II; positive regulation of telomerase activity; and positive regulation of telomere maintenance via telomerase. Located in several cellular components, including centrosome; chromosome, telomeric region; and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
HMBOX1-201 ENST00000287701 3711 420aa ENSP00000287701
HMBOX1-207 ENST00000519662 811 118aa ENSP00000429767
HMBOX1-212 ENST00000558662 1765 405aa ENSP00000453211
HMBOX1-210 ENST00000523613 1730 396aa ENSP00000452827
HMBOX1-215 ENST00000560599 1426 364aa ENSP00000453185
HMBOX1-203 ENST00000397358 4082 420aa ENSP00000380516
HMBOX1-214 ENST00000560357 979 No protein -
HMBOX1-206 ENST00000519047 1551 386aa ENSP00000430059
HMBOX1-208 ENST00000521516 2216 304aa ENSP00000430238
HMBOX1-213 ENST00000560269 569 No protein -
HMBOX1-202 ENST00000355231 1694 386aa ENSP00000475196
HMBOX1-211 ENST00000524238 1731 443aa ENSP00000430110
HMBOX1-205 ENST00000518080 559 No protein -
HMBOX1-204 ENST00000517386 761 No protein -
HMBOX1-209 ENST00000522468 817 45aa ENSP00000429854
HMBOX1-216 ENST00000561377 307 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
4186Triglycerides5.21002327071862E-517903299
6846C-Reactive Protein7.27829925104562E-517903293
7141C-Reactive Protein2.15687394882202E-517903293
23873Waist-Hip Ratio2.1440000E-005-
25323Waist-Hip Ratio5.4440000E-005-
63607Hormones6E-623251661

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000122involved_in negative regulation of transcription by RNA polymerase II1IDAHomo_sapiens(9606)Process
GO:0000781located_in chromosome, telomeric region2HDA,IDAHomo_sapiens(9606)Component
GO:0000785part_of chromatin1ISAHomo_sapiens(9606)Component
GO:0003691enables double-stranded telomeric DNA binding1IDAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634is_active_in nucleus2IBA,IDAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm1IDAHomo_sapiens(9606)Component
GO:0005737located_in cytoplasm1IDAHomo_sapiens(9606)Component
GO:0005813located_in centrosome1IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1IDAHomo_sapiens(9606)Component
GO:0015030located_in Cajal body1IEAHomo_sapiens(9606)Component
GO:0016604located_in nuclear body1IDAHomo_sapiens(9606)Component
GO:0016605located_in PML body1IEAHomo_sapiens(9606)Component
GO:0032212involved_in positive regulation of telomere maintenance via telomerase2IDA,IMPHomo_sapiens(9606)Process
GO:0035563involved_in positive regulation of chromatin binding1ISSHomo_sapiens(9606)Process
GO:0042162enables telomeric DNA binding2IDA,IMPHomo_sapiens(9606)Function
GO:0042802enables identical protein binding1IPIHomo_sapiens(9606)Function
GO:0043565enables sequence-specific DNA binding1IDAHomo_sapiens(9606)Function
GO:0044877enables protein-containing complex binding1IPIHomo_sapiens(9606)Function
GO:0045892involved_in negative regulation of DNA-templated transcription1IDAHomo_sapiens(9606)Process
GO:0045893involved_in positive regulation of DNA-templated transcription1IEAHomo_sapiens(9606)Process
GO:0051972involved_in regulation of telomerase activity1IDAHomo_sapiens(9606)Process
GO:0051973involved_in positive regulation of telomerase activity2IDA,IMPHomo_sapiens(9606)Process
GO:1990837enables sequence-specific double-stranded DNA binding1IDAHomo_sapiens(9606)Function

Expression