RBCC

HEAT1_HUMAN

Source: hRBCD ; ID: IPI00024279
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: HEATR1 , BAP28
Protein names and data: HEAT1_HUMAN , HEAT repeat-containing protein 1 , Protein BAP28; HEAT repeat-containing protein 1, N-terminally processed Lenght: 2144 a.a.
Mass: 242370 Da
fasta formatted sequence
Function: Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in ribosome biosynthesis (By similarity).
Cellular location: Nucleus, nucleolus.

Genetic variants

348 - 348 H -> R (in dbSNP:rs2794751). VAR_049329 2794751
607 - 607 M -> V (in dbSNP:rs2794763). VAR_049330 2794763
957 - 957 D -> G (in dbSNP:rs16833953). VAR_049331 16833953
1433 - 1433 Y -> C (in dbSNP:rs653737). VAR_049332 653737
1559 - 1559 S -> N (in dbSNP:rs6661946). VAR_049333 6661946
1654 - 1654 R -> H (in dbSNP:rs16833884). VAR_049334 16833884
1694 - 1694 N -> S (in dbSNP:rs2275689). VAR_010939 2275689
1854 - 1854 V -> A (in dbSNP:rs1885533). VAR_010940 1885533
1967 - 1967 N -> D (in dbSNP:rs1126627). VAR_010941 1126627
2017 - 2017 E -> G (polymorphism confirmed at protein level; dbSNP:rs2275687). VAR_010942 2275687
2077 - 2077 S -> L (in dbSNP:rs6664730). VAR_049335 6664730

Database cross-references

UniProt: Q9H583
Ensembl: ENST00000366582
neXtProt: NX_Q9H583
Antibodypedia: Q9H583 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

HEAT1_HUMAN

Genetic variants

Database cross-references

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