RBCC

CENPF_HUMAN

Source: PM23856902
PM22954596
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: CENPF
Protein names and data: CENPF_HUMAN , Centromere protein F; CENP-F , AH antigen; Kinetochore protein CENPF; Mitosin; Flags: Precursor Lenght: 3210 a.a.
Mass: 367764 Da
fasta formatted sequence
Function: Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the microtubule network though its association with STX4 and SNAP25. Acts as a potential inhibitor of pocket protein-mediated cellular processes during development by regulating the activity of RB proteins during cell division and proliferation. May play a regulatory or permissive role in the normal embryonic cardiomyocyte cell cycle and in promoting continued mitosis in transformed, abnormally dividing neonatal cardiomyocytes. Interaction with RB directs embryonic stem cells toward a cardiac lineage. Involved in the regulation of DNA synthesis and hence cell cycle progression, via its C-terminus. Has a potential role regulating skeletal myogenesis and in cell differentiation in embryogenesis. Involved in dendritic cell regulation of T-cell immunity against chlamydia.
Cellular location: Cytoplasm, perinuclear region. Nucleus matrix. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Note=Relocalizes to the kinetochore/centromere (coronal surface of the outer plate) and the spindle during mitosis. Observed in nucleus during interphase but not in the nucleolus. At metaphase becomes localized to areas including kinetochore and mitotic apparatus as well as cytoplasm. By telophase, is concentrated within the intracellular bridge at either side of the mid-body.

Genetic variants

250 - 250 Q -> L (in dbSNP:rs1050065). VAR_055049 1050065
272 - 272 D -> G (in dbSNP:rs1050066). VAR_055050 1050066
300 - 300 R -> C (in dbSNP:rs17023281). VAR_034712 17023281
494 - 494 H -> Q (in dbSNP:rs2070065). VAR_034713 2070065
701 - 701 M -> V (in dbSNP:rs3795524). VAR_034714 3795524
754 - 754 Q -> E (in dbSNP:rs3795523). VAR_034715 3795523
815 - 815 R -> H (in dbSNP:rs3795522). VAR_034716 3795522
1018 - 1018 Y -> D (in dbSNP:rs3795519). VAR_034717 3795519
1033 - 1033 G -> R (in dbSNP:rs3795518). VAR_034718 3795518
1105 - 1105 T -> I (in dbSNP:rs12067133). VAR_034719 12067133
1412 - 1412 L -> S (in dbSNP:rs3795517). VAR_034720 3795517
1515 - 1515 A -> T (in dbSNP:rs2666839). VAR_034721 2666839
1516 - 1611 Missing. VAR_036701
1539 - 1539 K -> R (in dbSNP:rs3795514). VAR_034722 3795514
1864 - 1864 D -> N (in dbSNP:rs3748692). VAR_055638 3748692
2011 - 2011 E -> A (in dbSNP:rs3790647). VAR_034723 3790647
3202 - 3202 N -> K (in dbSNP:rs7289). VAR_014839 7289

Database cross-references

UniProt: P49454
Ensembl: ENST00000366955
MIM: 600236
neXtProt: NX_P49454
Antibodypedia: P49454 (may not find the protein thus also not any antibody)
Local full text data: click here

RBCC Red Blood Cell Collection

CENPF_HUMAN

Genetic variants

Database cross-references

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