HELLS
entrez
3070
canonical
uniprot
Q9NRZ9
canonical
ensembl
ENSG00000119969
resolver
ensp
ENSP00000239027
resolver
ensp
ENSP00000360378
resolver
ensp
ENSP00000360383
resolver
ensp
ENSP00000377601
resolver
ensp
ENSP00000377609
resolver
ensp
ENSP00000409945
resolver
ensp
ENSP00000485823
resolver
ensp
ENSP00000513940
resolver
ensp
ENSP00000513942
resolver
enst
ENST00000371332
resolver
enst
ENST00000394036
resolver
enst
ENST00000630929
resolver
genesymbol
HELLS
resolver
genesymbol_syn
PASG
resolver
genesymbol_syn
SMARCA6
resolver
hgnc
HGNC:4861
resolver
uniprot
A0A087WSW7
resolver
uniprot
A0A0B4J1V9
resolver
uniprot
A0A0D9SEM7
resolver
uniprot
B2RB41
resolver
uniprot
Q0VGL2
resolver
uniprot
Q3LID1
resolver
uniprot
Q6I7N7
resolver
uniprot
Q76H76
resolver
uniprot
Q76H77
resolver
uniprot
Q76H78
resolver
uniprot
Q76H79
resolver
uniprot
Q76H80
resolver
uniprot
Q76H81
resolver
uniprot
Q76H82
resolver
uniprot
Q7Z397
resolver
uniprot
Q7Z5X2
resolver
uniprot
Q8N6P4
resolver
uniprot
Q9H4P5
resolver
uniprot_entry
A0A087WSW7_HUMAN
resolver
uniprot_entry
A0A0B4J1V9_HUMAN
resolver
uniprot_entry
A0A0D9SEM7_HUMAN
resolver
uniprot_entry
HELLS_HUMAN
resolver
uniprot_entry
Q0VGL2_HUMAN
resolver
uniprot_entry
Q76H82_HUMAN
resolver
uniprot_sec
B2RB41
resolver
uniprot_sec
Q3LID1
resolver
uniprot_sec
Q6I7N7
resolver
uniprot_sec
Q76H76
resolver
uniprot_sec
Q76H77
resolver
uniprot_sec
Q76H78
resolver
uniprot_sec
Q76H79
resolver
uniprot_sec
Q76H80
resolver
uniprot_sec
Q76H81
resolver
uniprot_sec
Q7Z397
resolver
uniprot_sec
Q7Z5X2
resolver
uniprot_sec
Q8N6P4
resolver
uniprot_sec
Q9H4P5
resolver
amino_acid_sequence
MPAERPAGSGGSEAPAMVEQLDTAVITPAMLEEEEQLEAAGLERERKMLEKARMSWDRESTEIRYRRLQHLLEKSNIYSKFLLTKMEQQQLEEQKKKEKLERKKESLKVKKGKNSIDASEEKPVMRKKRGREDESYNISEVMSKEEILSVAKKNKKENEDENSSSTNLCVEDLQKNKDSNSIIKDRLSETVRQNTKFFFDPVRKCNGQPVPFQQPKHFTGGVMRWYQVEGMEWLRMLWENGINGILADEMGLGKTVQCIATIALMIQRGVPGPFLVCGPLSTLPNWMAEFKRFTPDIPTMLYHGTQEERQKLVRNIYKRKGTLQIHPVVITSFEIAMRDRNALQHCYWKYLIVDEGHRIKNMKCRLIRELKRFNADNKLLLTGTPLQNNLSELWSLLNFLLPDVFDDLKSFESWFDITSLSETAEDIIAKEREQNVLHMLHQILTPFLLRRLKSDVALEVPPKREVVVYAPLSKKQEIFYTAIVNRTIANMFGSSEKETIELSPTGRPKRRTRKSINYSKIDDFPNELEKLISQIQPEVDRERAVVEVNIPVESEVNLKLQNIMMLLRKCCNHPYLIEYPIDPVTQEFKIDEELVTNSGKFLILDRMLPELKKRGHKVLLFSQMTSMLDILMDYCHLRDFNFSRLDGSMSYSEREKNMHSFNTDPEVFIFLVSTRAGGLGINLTAADTVIIYDSDWNPQSDLQAQDRCHRIGQTKPVVVYRLVTANTIDQKIVERAAAKRKLEKLIIHKNHFKGGQSGLNLSKNFLDPKELMELLKSRDYEREIKGSREKVISDKDLELLLDRSDLIDQMNASGPIKEKMGIFKILENSEDSSPECLF
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) [MIM:616911]: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. {ECO:0000269|PubMed:26216346}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.-
uniprot
proteins
function
FUNCTION: ATP-dependent chromatin remodeler that regulates chromatin accessibility, DNA methylation, and histone modifications. It facilitates de novo DNA methylation at repetitive sequences and promotes transcriptional silencing via recruitment of DNA methyltransferases (DNMTs) and histone deacetylases (HDACs), contributing to heterochromatin formation and repression of transposable elements (PubMed:30307408). Also involved in DNA repair by recruiting DNA damage response mediators to double-strand breaks in heterochromatin, promoting homologous recombination via RBBP8/CtIP-dependent end resection (PubMed:22946062, PubMed:31802118). During meiosis, it is recruited by PRDM9 to recombination hotspots, aiding chromatin opening (PubMed:32001511). Through these diverse roles, is crucial for processes such as development, differentiation, and genomic stability (PubMed:22946062, PubMed:31802118). Involved in regulation of the expansion or survival of lymphoid cells (By similarity). {ECO:0000250|UniProtKB:Q60848, ECO:0000269|PubMed:22946062, ECO:0000269|PubMed:30307408, ECO:0000269|PubMed:31802118, ECO:0000269|PubMed:32001511}.
uniprot
proteins
mass_dalton
97074
uniprot
proteins
mutagenesis
MUTAGEN 254; /note="K->R: Disrupts double-strand break (DSB) repair. No effect on interaction to RBBP8 or binding to chromatin."; /evidence="ECO:0000269|PubMed:31802118
uniprot
proteins
protein_family
SNF2/RAD54 helicase family
uniprot
proteins
pubmed
10910076
uniprot
proteins
pubmed
12880961
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15305370
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21248752
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22946062
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26216346
uniprot
proteins
pubmed
30307408
uniprot
proteins
pubmed
31802118
uniprot
proteins
pubmed
32001511
uniprot
proteins
sequence_length
838
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:31802118}. Chromosome {ECO:0000269|PubMed:31802118}. Note=Closely associated with pericentric heterochromatin. {ECO:0000269|PubMed:31802118}.
uniprot
proteins