AF4/FMR2 family member 4

AFF4
Identifiers
Aliases	AFF4, AF5Q31, MCEF, CHOPS, AF4/FMR2 family member 4
External IDs	OMIM: 604417; MGI: 2136171; GeneCards: AFF4
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4IMY, 4OGR, 4OR5
Gene location (Human)
Chr.	Chromosome 5 (human)
End	132,963,634 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	53,312,657 bp
RNA expression pattern
	Top expressed in
	germinal epithelium; ; sperm; ; amniotic fluid; ; gingival epithelium; ; mucosa of paranasal sinus; ; epithelium of nasopharynx; ; retinal pigment epithelium; ; visceral pleura; ; parietal pleura; ; tibia;
	Top expressed in
	genital tubercle; ; arcuate nucleus; ; median eminence; ; paraventricular nucleus of hypothalamus; ; ventromedial nucleus; ; dorsomedial hypothalamic nucleus; ; lateral hypothalamus; ; pineal gland; ; tail of embryo; ; cerebellar vermis;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA-binding transcription factor activity; protein binding; double-stranded DNA binding;
Cellular component	transcription elongation factor complex; fibrillar center; nucleus; nucleoplasm; super elongation complex;
Biological process	regulation of transcription, DNA-templated; transcription by RNA polymerase II; transcription, DNA-templated; spermatid development; transcription elongation from RNA polymerase II promoter;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	27125
	93736
	ENSG00000072364
	ENSMUSG00000049470
	Q9UHB7
	Q9ESC8
	NM_014423
	NM_033565; NM_001363331
	NP_055238
	NP_291043; NP_001350260
	Wikidata
View/Edit Human	View/Edit Mouse

AF4/FMR2 family member 4 is a protein that in humans is encoded by the AFF4 gene (previously MCEF). It functions as a transcription factor and is related to Af4. It is the fourth member of the Af4 family (AFF) of transcription factors, involved in numerous pathologies, including Acute Lymphoblastic Leukemia (ALL), abnormal CNS development, breast cancer and azoospermia.

Because it apparently interacts with the species-specific human co-factor (P-TEFb) for HIV-1 transcription, and because it can repress HIV-1 replication, AFF4 (also known as MCEF) may have future therapeutic uses.^[5]

MCEF/AFF4 was originally cloned and named by Mario Clemente Estable of Ryerson University, while he was a post-doctoral fellow in the laboratory of Robert G. Roeder, at the Rockefeller University.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000072364 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049470 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Estable M, Naghavi M, Kato H, Xiao H, Qin J, Vahlne A, Roeder R (2002). "MCEF, the newest member of the AF4 family of transcription factors involved in leukemia, is a positive transcription elongation factor-b-associated protein". J Biomed Sci. 9 (3): 234–245. doi:10.1007/BF02256070. PMID 12065898.

Niedzielski MF, Hopewell R, Ismail Z, Estable MC (2007). "MCEF is localized to the nucleus by protein sequences encoded within three distinct exons, where it represses HIV-1 Tat-transactivation of LTR-directed transcription". Int J Biol Sci. 3 (4): 225–236. doi:10.7150/ijbs.3.225. PMC 1820876. PMID 17389929.
MCEF+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000072364 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049470 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Estable-5] Estable M, Naghavi M, Kato H, Xiao H, Qin J, Vahlne A, Roeder R (2002). "MCEF, the newest member of the AF4 family of transcription factors involved in leukemia, is a positive transcription elongation factor-b-associated protein". J Biomed Sci. 9 (3): 234–245. doi:10.1007/BF02256070. PMID 12065898.

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AF4/FMR2 family member 4

See also

References