NP_001300888.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
131,578 Da
NCBI Official Full Name
AF4/FMR2 family member 1 isoform 3
NCBI Official Synonym Full Names
AF4/FMR2 family member 1
NCBI Protein Information
AF4/FMR2 family member 1
UniProt Protein Name
AF4/FMR2 family member 1
UniProt Synonym Protein Names
ALL1-fused gene from chromosome 4 protein; Protein AF-4; Protein FEL; Proto-oncogene AF4
UniProt Synonym Gene Names
NCBI Summary for AFF1
This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
UniProt Comments for AFF1
AF-4: A chromosomal aberration involving AFF1 is associated with acute leukemias. Translocation t(4;11)(q21;q23) with MLL/HRX. The result is a rogue activator protein. Belongs to the AF4 family.
Protein type: Oncoprotein; Transcription factor
Chromosomal Location of Human Ortholog: 4q21.3-q22.1
Cellular Component: transcription elongation factor complex
Molecular Function: protein binding; transcription factor activity
Research Articles on AFF1
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Products associated with anti-AFF1 antibody
Pathways associated with anti-AFF1 antibody
Diseases associated with anti-AFF1 antibody
Organs/Tissues associated with anti-AFF1 antibody
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