HMBOX1
entrez
79618
canonical
uniprot
Q6NT76
canonical
ensembl
ENSG00000147421
resolver
ensp
ENSP00000287701
resolver
ensp
ENSP00000380516
resolver
ensp
ENSP00000430110
resolver
ensp
ENSP00000453185
resolver
ensp
ENSP00000453211
resolver
ensp
ENSP00000557503
resolver
ensp
ENSP00000557506
resolver
ensp
ENSP00000557507
resolver
ensp
ENSP00000557510
resolver
ensp
ENSP00000557511
resolver
ensp
ENSP00000557523
resolver
ensp
ENSP00000557525
resolver
ensp
ENSP00000557528
resolver
ensp
ENSP00000557530
resolver
ensp
ENSP00000557532
resolver
ensp
ENSP00000557534
resolver
ensp
ENSP00000557535
resolver
ensp
ENSP00000557536
resolver
ensp
ENSP00000557547
resolver
ensp
ENSP00000662080
resolver
ensp
ENSP00000662081
resolver
ensp
ENSP00000789193
resolver
genesymbol
HMBOX1
resolver
genesymbol_syn
HOT1
resolver
genesymbol_syn
TAH1
resolver
hgnc
HGNC:26137
resolver
uniprot
A4K385
resolver
uniprot
A8K3R8
resolver
uniprot
B4DHY5
resolver
uniprot
D3DSU0
resolver
uniprot
Q3Y6P1
resolver
uniprot
Q96GS5
resolver
uniprot
Q9H701
resolver
uniprot_entry
HMBX1_HUMAN
resolver
uniprot_sec
A4K385
resolver
uniprot_sec
A8K3R8
resolver
uniprot_sec
B4DHY5
resolver
uniprot_sec
D3DSU0
resolver
uniprot_sec
Q3Y6P1
resolver
uniprot_sec
Q96GS5
resolver
uniprot_sec
Q9H701
resolver
amino_acid_sequence
MLSSFPVVLLETMSHYTDEPRFTIEQIDLLQRLRRTGMTKHEILHALETLDRLDQEHSDKFGRRSSYGGSSYGNSTNNVPASSSTATASTQTQHSGMSPSPSNSYDTSPQPCTTNQNGRENNERLSTSNGKMSPTRYHANSMGQRSYSFEASEEDLDVDDKVEELMRRDSSVIKEEIKAFLANRRISQAVVAQVTGISQSRISHWLLQQGSDLSEQKKRAFYRWYQLEKTNPGATLSMRPAPIPIEDPEWRQTPPPVSATSGTFRLRRGSRFTWRKECLAVMESYFNENQYPDEAKREEIANACNAVIQKPGKKLSDLERVTSLKVYNWFANRRKEIKRRANIEAAILESHGIDVQSPGGHSNSDDVDGNDYSEQDDSTSHSDHQDPISLAVEMAAVNHTILALARQGANEIKTEALDDD
uniprot
proteins
function
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 for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (By similarity). Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs) (PubMed:23813958). Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination (PubMed:23813958). Might also be involved in the DNA damage response at telomeres (PubMed:23813958). {ECO:0000250|UniProtKB:Q8BJA3, ECO:0000269|PubMed:23685356, ECO:0000269|PubMed:23813958}.
uniprot
proteins
mass_dalton
47278
uniprot
proteins
mutagenesis
MUTAGEN 271; /note="R->A: Abolishes binding to telomeric 5'-TTAGGG-3' motif."; /evidence="ECO:0000269|PubMed:23685356"; MUTAGEN 325; /note="K->E: Abolishes binding to telomeric 5'-TTAGGG-3' motif."; /evidence="ECO:0000269|PubMed:23685356"; MUTAGEN 327; /note="Y->A: Impairs binding to telomeric 5'-TTAGGG-3' motif."; /evidence="ECO:0000269|PubMed:23685356"; MUTAGEN 334; /note="R->A: Impairs binding to telomeric 5'-TTAGGG-3' motif."; /evidence="ECO:0000269|PubMed:23685356"; MUTAGEN 335; /note="K->A: Abolishes binding to telomeric 5'-TTAGGG-3' motif. Confers binding to the non-telomeric 5'-GTGAGT-3' motif."; /evidence="ECO:0000269|PubMed:23685356"; MUTAGEN 338; /note="K->A: Impairs binding to telomeric 5'-TTAGGG-3' motif."; /evidence="ECO:0000269|PubMed:23685356"; MUTAGEN 339; /note="R->A: Abolishes binding to telomeric 5'-TTAGGG-3' motif."; /evidence="ECO:0000269|PubMed:23685356
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16825764
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19728927
uniprot
proteins
pubmed
19757162
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23685356
uniprot
proteins
pubmed
23813958
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
420
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16825764, ECO:0000269|PubMed:19728927}. Cytoplasm {ECO:0000269|PubMed:16825764, ECO:0000269|PubMed:19728927}. Chromosome, telomere {ECO:0000269|PubMed:23685356, ECO:0000269|PubMed:23813958}. Nucleus, Cajal body {ECO:0000269|PubMed:23685356}. Nucleus, PML body {ECO:0000269|PubMed:23813958}. Note=Predominantly detected in cytoplasm (PubMed:16825764, PubMed:19728927). Localizes in a dynamic manner to actively processed telomeres (PubMed:23685356). Localizes to the periphery of Cajal bodies (PubMed:23685356). Associates with PML nuclear bodies in telomerase-negative cells (PubMed:23813958). {ECO:0000269|PubMed:16825764, ECO:0000269|PubMed:19728927, ECO:0000269|PubMed:23685356, ECO:0000269|PubMed:23813958}.; SUBCELLULAR LOCATION: [Isoform 5]: Nucleus {ECO:0000269|PubMed:19757162}. Cytoplasm {ECO:0000269|PubMed:19757162}.
uniprot
proteins