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Nucleolar protein 56

 
Known also as: Nucleolar protein 5A

Known abbreviations: NOP56

Function

Involved in the early to middle stages of 60S ribosomal subunit biogenesis.

Subunit structure

Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interacts with TCOF1 in an RNA-independent manner. Interacts with NOP1 and NOP58.

Subcellular location

Nucleus › nucleolus. Cytoplasm

Involvement in disease

Spinocerebellar ataxia: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA36 is characterized by complicated clinical features, with ataxia as the first symptom, followed by characteristic late-onset involvement of the motor neuron system. Ataxic symptoms, such as gait and truncal instability, ataxic dysarthria, and uncoordinated limbs, start in late forties to fifties. Characteristically, affected individuals exhibit tongue atrophy with fasciculation. Progression of motor neuron involvement is typically limited to the tongue and main proximal skeletal muscles in both upper and lower extremities.
Note: The disease is caused by mutations affecting the gene represented in this entry. Caused by large hexanucleotide CGCCTG repeat expansions within intron 1. These expansions induce RNA foci and sequester the RNA-binding protein SRSF2. In addition, the transcription of MIR1292, a microRNA gene located just 19 bp 3' of the GGCCTG repeat, is significantly decreased.

Sequence similarities

Belongs to the NOP5/NOP56 family.

Contains 1 Nop domain.




Activities in which Nucleolar protein 56 is involved: Pathways in which Nucleolar protein 56 is involved:

NCBI GI number(s): -
Species: Homo sapiens

Links to other databases:

Database ID Link
Uniprot O00567 O00567
BRENDA - -
KEGG hsa:10528 hsa:10528
PFAM: PF01798
PF08156
PF08060
PF01798
PF08156
PF08060
InterPro: IPR012974
IPR002687
IPR012976
IPR012974
IPR002687
IPR012976
CATH: - -
SCOP: - -


Protein sequence:
MVLLHVLFEHAVGYALLALKEVEEISLLQPQVEESVLNLGKFHSIVRLVA
FCPFASSQVALENANAVSEGVVHEDLRLLLETHLPSKKKKVLLGVGDPKI
GAAIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLSACKAQLGLGH
SYSRAKVKFNVNRVDNMIIQSISLLDQLDKDINTFSMRVREWYGYHFPEL
VKIINDNATYCRLAQFIGNRRELNEDKLEKLEELTMDGAKAKAILDASRS
SMGMDISAIDLINIESFSSRVVSLSEYRQSLHTYLRSKMSQVAPSLSALI
GEAVGARLIAHAGSLTNLAKYPASTVQILGAEKALFRALKTRGNTPKYGL
IFHSTFIGRAAAKNKGRISRYLANKCSIASRIDCFSEVPTSVFGEKLREQ
VEERLSFYETGEIPRKNLDVMKEAMVQAEEAAAEITRKLEKQEKKRLKKE
KKRLAALALASSENSSSTPEECEEMSEKPKKKKKQKPQEVPQENGMEDPS
ISFSKPKKKKSFSKEELMSSDLEETAGSTSIPKRKKSTPKEETVNDPEEA
GHRSGSKKKRKFSKEEPVSSGPEEAVGKSSSKKKKKFHKASQED

Nucleolar protein 56 (Homo sapiens) is product of expression of NOP56 ribonucleoprotein gene.



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Last modification of this entry: May 1, 2013.

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