Alt. symbols: BMFF | BMFS1 | HEL103

Approved name: signal recognition particle 72
Alt. names: signal recognition particle 72kDa

Location: 4q12: 56467617 - 56503681 (+)
Gene type: protein_coding, 9 transcripts.

Scores: LoFtool: 0.482000 | pLI: 0.01418814 | LOEUF: 0.494

HGNC: 11303

NCBI: 6731, RefSeq: NG_032796.1

Ensembl: ENSG00000174780.17

LRG_1151 | Status: public

OMIM: 602122

Expression | ProteinAtlas

The SRP72 gene encodes the 72-kD subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein.

Monoallelic mutations in SRP72 have been associated with Bone marrow failure syndrome 1 [MIM:614675]. To date, only 2 unrelated families have been reported. In the first family, 4 affected members carried a frameshift mutation (p.Thr355LysfsTer19), which was associated with the myelodysplasia in the affected father and with the Aplastic anemia or pancytopenia in his 3 affected children. In the second family, the affected mother and the affected daughter carried a missense mutation (p.Arg207His), which affects an amino acid in the sixth tetratricopeptide repeat (TPR) of the SRP72 peptide. According to the authors, this change may disrupt binding to SRP68, or alternatively to SRP54, and thereby destabilize the association between the subunits (Kirwan, M et al. 2012). [Load More]