PUF60

Protein identityUniProt · HPA

UniProt accession

Q9UHX1

Gene

PUF60

Ensembl

ENSG00000179950

Chromosome

8

Canonical length

559 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

Canonical amino-acid sequenceUniProt

559 residues, UniProt reviewed canonical sequence.

>Q9UHX1|PUF60
     1  MATATIALQV NGQQGGGSEP AAAAAVVAAG DKWKPPQGTD SIKMENGQST AAKLGLPPLT
    61  PEQQEALQKA KKYAMEQSIK SVLVKQTIAH QQQQLTNLQM AAVTMGFGDP LSPLQSMAAQ
   121  RQRALAIMCR VYVGSIYYEL GEDTIRQAFA PFGPIKSIDM SWDSVTMKHK GFAFVEYEVP
   181  EAAQLALEQM NSVMLGGRNI KVGRPSNIGQ AQPIIDQLAE EARAFNRIYV ASVHQDLSDD
   241  DIKSVFEAFG KIKSCTLARD PTTGKHKGYG FIEYEKAQSS QDAVSSMNLF DLGGQYLRVG
   301  KAVTPPMPLL TPATPGGLPP AAAVAAAAAT AKITAQEAVA GAAVLGTLGT PGLVSPALTL
   361  AQPLGTLPQA VMAAQAPGVI TGVTPARPPI PVTIPSVGVV NPILASPPTL GLLEPKKEKE
   421  EEELFPESER PEMLSEQEHM SISGSSARHM VMQKLLRKQE STVMVLRNMV DPKDIDDDLE
   481  GEVTEECGKF GAVNRVIIYQ EKQGEEEDAE IIVKIFVEFS IASETHKAIQ ALNGRWFAGR
   541  KVVAEVYDQE RFDNSDLSA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PUF60 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.47

Highest tissue expression

119 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PUF60.

Disease | AllUniProt

Conditions PUF60 is implicated in, by any mechanism.

• Verheij syndrome (VRJS) MIM:615583

Disease | GeneticClinVar

109 pathogenic / likely-pathogenic of 296 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• 8q24.3 microdeletion syndrome
• Inborn genetic diseases
• Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
• PUF60-related disorder
• Intellectual disability

ReferencesPubMed · IEDB

Publications for PUF60 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.25

gnomAD pLI

1

gnomAD missense Z

4.44

DepMap mean gene effect

-2.66

DepMap dependency class

pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 20% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• alternative mRNA splicing, via spliceosome
• apoptotic process
• mRNA splice site recognition
• regulation of alternative mRNA splicing, via spliceosome

Molecular functions

• cadherin binding
• DNA binding
• identical protein binding
• RNA binding

Cellular components

• cell junction
• nucleoplasm
• ribonucleoprotein complex

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• RNA recognition motif domain, eukaryotic-type
• Nucleotide-binding alpha-beta plait domain superfamily
• RNA-binding domain superfamily
• RNA recognition motif
• Poly-U binding splicing factor, PUF60-like
• PUF60, RNA recognition motif 1
• PUF60, RNA recognition motif 2
• PUF60, RNA recognition motif 3
• Poly(U)-binding-splicing regulator

KeywordsUniProt

• Acetylation
• Apoptosis
• DNA-binding
• Isopeptide bond
• mRNA processing
• mRNA splicing
• Nucleus
• Phosphoprotein
• Repeat
• Repressor
• Ribonucleoprotein
• RNA-binding
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of PUF60 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARGLU1
• CDK7
• ERCC3
• GTF2H1
• FUBP1
• SRSF11
• BORCS5
• CACNA1A
• HNRNPC
• PCBP1
• PPP1R16A
• RNPS1
• RO60
• SAP30BP
• SIAH1
• SSB
• U2AF2