HELLS_HUMAN

Source: hRBCD ; ID: IPI00010590
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)

Gene names: HELLS , PASG, SMARCA6 , Nbla10143
Protein names and data: HELLS_HUMAN , Lymphoid-specific helicase; 3.6.4.- , Proliferation-associated SNF2-like protein; SWI/SNF2-related matrix-associated actin-dependent regulator of chromatin subfamily A member 6 Lenght: 838 a.a.
Mass: 97074 Da
fasta formatted sequence

Function: Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity).
Cellular location: Nucleus (By similarity). Note=Closely associated with pericentric heterochromatin (By similarity).
Tissue specificity: Highly expressed in proliferative tissues such as adult thymus and testis, and expressed at lower levels in uterus, small intestine, colon, and peripheral blood mononuclear cells. Also expressed in neoplastic cell lines including those derived from myeloid and lymphoid leukemias.

Genetic variants

Database cross-references

UniProt: Q9NRZ9
Ensembl: ENST00000348459
Ensembl: ENST00000394036
Ensembl: ENST00000394044
Ensembl: ENST00000394045
MIM: 603946
neXtProt: NX_Q9NRZ9
Antibodypedia: Q9NRZ9 (may not find the protein thus also not any antibody)
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