RBCC Red Blood Cell Collection

BAF_HUMAN

Source: PM19886704
PM23856902
BSc_CH
Marked as 'Membrane associated protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: BANF1 , BAF, BCRG1
Protein names and data: BAF_HUMAN , Barrier-to-autointegration factor , Breakpoint cluster region protein 1; Barrier-to-autointegration factor, N-terminally processed Lenght: 89 a.a.
Mass: 10059 Da
fasta formatted sequence
Function: Plays fundamental roles in nuclear assembly, chromatin organization, gene expression and gonad development. May potently compress chromatin structure and be involved in membrane recruitment and chromatin decondensation during nuclear assembly. Contains 2 non-specific dsDNA-binding sites which may promote DNA cross-bridging. Exploited by retroviruses for inhibiting self- destructing autointegration of retroviral DNA, thereby promoting integration of viral DNA into the host chromosome. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD.
Disease: ( OMIM: 603811 614008 ) Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008]: An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severe osteoporosis, and marked osteolysis. The atrophic facial subcutaneous fat pad and the marked osteolysis of the maxilla and mandible result in a typical pseudosenile facial appearance with micrognathia, prominent subcutaneous venous patterning, a convex nasal ridge, and proptosis. Cognitive development is completely normal. Patients do not have cardiovascular dysfunction, atherosclerosis, or metabolic anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus. Cytoplasm. Chromosome. Note=Significantly enriched at the nuclear inner membrane, diffusely throughout the nucleus during interphase and concentrated at the chromosomes during the M-phase. May be included in HIV-1 virions via its interaction with viral GAG polyprotein. The phosphorylated form (by VRK1) shows a cytoplasmic localization.
Tissue specificity: Widely expressed. Expressed in colon, brain, heart, kidney, liver, lung, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen and testis. Not detected in thymus and peripheral blood leukocytes.

Genetic variants

12 - 12 A -> T (in NGPS; shows a dramatic reduction in BANF1 protein levels indicating that the mutation impairs protein stability). VAR_065954

Database cross-references

UniProt: O75531
Ensembl: ENST00000312175
Ensembl: ENST00000445560
Ensembl: ENST00000527348
Ensembl: ENST00000533166
MIM: 603811
MIM: 614008
neXtProt: NX_O75531
Antibodypedia: O75531 (may not find the protein thus also not any antibody)
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