DISEASES

Disease-gene associations mined from literature

Literature associating CIRH1A and autosomal dominant non-syndromic intellectual disability 1

CIRH1A [ENSP00000327179]

U3 small nucleolar RNA-associated protein 4 homolog; Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b. Required for optimal pre-ribosomal RNA transcription by RNA polymerase. May be a transcriptional regulator. Acts as a positive regulator of HIVEP1 which specifically binds to the DNA sequence 5'-GGGACTTTCC-3' found in enhancer elements of numerous viral promoters such as those of HIV-1, SV40, or CMV.

Synonyms:  CIRH1A,  CIRH1Ap,  hCIRH1A,  H3BPD7,  H3BRM8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM