We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
q44
Chromosome location (bp)
244840638 - 244864560
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organization, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression 1,2,3,4,5,6. Plays a role in the regulation of interphase large-scale gene-rich chromatin organization through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, and thereby maintains genomic stability 7,8,9. Required for the localization of the long non-coding Xist RNA on the inactive chromosome X (Xi) and the subsequent initiation and maintenance of X-linked transcriptional gene silencing during X-inactivation (By similarity). Plays a role as a RNA polymerase II (Pol II) holoenzyme transcription regulator 10,11,12,13,14,15. Promotes transcription initiation by direct association with the core-TFIIH basal transcription factor complex for the assembly of a functional pre-initiation complex with Pol II in a actin-dependent manner 16,17. Blocks Pol II transcription elongation activity by inhibiting the C-terminal domain (CTD) phosphorylation of Pol II and dissociates from Pol II pre-initiation complex prior to productive transcription elongation 18. Positively regulates CBX5-induced transcriptional gene silencing and retention of CBX5 in the nucleus 19. Negatively regulates glucocorticoid-mediated transcriptional activation 20. Key regulator of transcription initiation and elongation in embryonic stem cells upon leukemia inhibitory factor (LIF) signaling (By similarity). Involved in the long non-coding RNA H19-mediated Pol II transcriptional repression 21. Participates in the circadian regulation of the core clock component BMAL1 transcription (By similarity). Plays a role in the regulation of telomere length 22. Plays a role as a global pre-mRNA alternative splicing modulator by regulating U2 small nuclear ribonucleoprotein (snRNP) biogenesis 23. Plays a role in mRNA stability 24,25,26. Component of the CRD-mediated complex that promotes MYC mRNA stabilization 27. Enhances the expression of specific genes, such as tumor necrosis factor TNFA, by regulating mRNA stability, possibly through binding to the 3'-untranslated region (UTR) 28. Plays a role in mitotic cell cycle regulation 29,30. Involved in the formation of stable mitotic spindle microtubules (MTs) attachment to kinetochore, spindle organization and chromosome congression 31. Phosphorylation at Ser-59 by PLK1 is required for chromosome alignement and segregation and progression through mitosis 32. Contributes also to the targeting of AURKA to mitotic spindle MTs 33. Binds to double- and single-stranded DNA and RNA, poly(A), poly(C) and poly(G) oligoribonucleotides 34,35,36,37,38. Binds to chromatin-associated RNAs (caRNAs) 39. Associates with chromatin to scaffold/matrix attachment region (S/MAR) elements in a chromatin-associated RNAs (caRNAs)-dependent manner 40,41,42,43,44,45,46,47. Binds to the Xist RNA 48. Binds the long non-coding H19 RNA 49. Binds to SMN1/2 pre-mRNAs at G/U-rich regions 50. Binds to small nuclear RNAs (snRNAs) 51. Binds to the 3'-UTR of TNFA mRNA 52. Binds (via RNA-binding RGG-box region) to the long non-coding Xist RNA; this binding is direct and bridges the Xist RNA and the inactive chromosome X (Xi) (By similarity). Also negatively regulates embryonic stem cell differentiation upon LIF signaling (By similarity). Required for embryonic development (By similarity). Binds to brown fat long non-coding RNA 1 (Blnc1); facilitates the recruitment of Blnc1 by ZBTB7B required to drive brown and beige fat development and thermogenesis (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
A0A1X7SBS1 [Direct mapping] Heterogeneous nuclear ribonucleoprotein U
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Q5RI18 [Direct mapping] Heterogeneous nuclear ribonucleoprotein U
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Q00839 [Direct mapping] Heterogeneous nuclear ribonucleoprotein U
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000166[nucleotide binding] GO:0000228[nuclear chromosome] GO:0000381[regulation of alternative mRNA splicing, via spliceosome] GO:0000398[mRNA splicing, via spliceosome] GO:0000775[chromosome, centromeric region] GO:0000776[kinetochore] GO:0000922[spindle pole] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000993[RNA polymerase II complex binding] GO:0001097[TFIIH-class transcription factor complex binding] GO:0001649[osteoblast differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0003697[single-stranded DNA binding] GO:0003714[transcription corepressor activity] GO:0003723[RNA binding] GO:0003725[double-stranded RNA binding] GO:0003727[single-stranded RNA binding] GO:0003730[mRNA 3'-UTR binding] GO:0003779[actin binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005681[spliceosomal complex] GO:0005694[chromosome] GO:0005697[telomerase holoenzyme complex] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006325[chromatin organization] GO:0006396[RNA processing] GO:0006397[mRNA processing] GO:0007049[cell cycle] GO:0007346[regulation of mitotic cell cycle] GO:0008143[poly(A) binding] GO:0008380[RNA splicing] GO:0009048[dosage compensation by inactivation of X chromosome] GO:0009986[cell surface] GO:0016020[membrane] GO:0016363[nuclear matrix] GO:0016607[nuclear speck] GO:0017069[snRNA binding] GO:0017130[poly(C) RNA binding] GO:0030154[cell differentiation] GO:0030496[midbody] GO:0031490[chromatin DNA binding] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032839[dendrite cytoplasm] GO:0032922[circadian regulation of gene expression] GO:0032991[protein-containing complex] GO:0033673[negative regulation of kinase activity] GO:0034046[poly(G) binding] GO:0034244[negative regulation of transcription elongation by RNA polymerase II] GO:0036002[pre-mRNA binding] GO:0036464[cytoplasmic ribonucleoprotein granule] GO:0042802[identical protein binding] GO:0043021[ribonucleoprotein complex binding] GO:0044877[protein-containing complex binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048255[mRNA stabilization] GO:0048511[rhythmic process] GO:0051301[cell division] GO:0051457[maintenance of protein location in nucleus] GO:0070034[telomerase RNA binding] GO:0070934[CRD-mediated mRNA stabilization] GO:0070937[CRD-mediated mRNA stability complex] GO:0071013[catalytic step 2 spliceosome] GO:0071385[cellular response to glucocorticoid stimulus] GO:0072686[mitotic spindle] GO:0090336[positive regulation of brown fat cell differentiation] GO:0090575[RNA polymerase II transcription regulator complex] GO:0098577[inactive sex chromosome] GO:0099122[RNA polymerase II C-terminal domain binding] GO:1900152[negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay] GO:1901673[regulation of mitotic spindle assembly] GO:1902275[regulation of chromatin organization] GO:1902425[positive regulation of attachment of mitotic spindle microtubules to kinetochore] GO:1902889[protein localization to spindle microtubule] GO:1990023[mitotic spindle midzone] GO:1990280[RNA localization to chromatin] GO:1990498[mitotic spindle microtubule] GO:1990830[cellular response to leukemia inhibitory factor] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990841[promoter-specific chromatin binding] GO:1990845[adaptive thermogenesis] GO:1990904[ribonucleoprotein complex] GO:2000373[positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity] GO:2000648[positive regulation of stem cell proliferation] GO:2000737[negative regulation of stem cell differentiation] GO:2000767[positive regulation of cytoplasmic translation]
A0A1W2PRZ7 [Direct mapping] Heterogeneous nuclear ribonucleoprotein U
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
A0A1W2PP35 [Direct mapping] Heterogeneous nuclear ribonucleoprotein U
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
A0A1W2PPL4 [Direct mapping] Heterogeneous nuclear ribonucleoprotein U
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
A0A1W2PPH7 [Direct mapping] Heterogeneous nuclear ribonucleoprotein U
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
A0A1W2PQD4 [Direct mapping] Heterogeneous nuclear ribonucleoprotein U
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
A0A1W2PP34 [Direct mapping] Heterogeneous nuclear ribonucleoprotein U
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
Q00839 [Direct mapping] Heterogeneous nuclear ribonucleoprotein U
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000166[nucleotide binding] GO:0000228[nuclear chromosome] GO:0000381[regulation of alternative mRNA splicing, via spliceosome] GO:0000398[mRNA splicing, via spliceosome] GO:0000775[chromosome, centromeric region] GO:0000776[kinetochore] GO:0000922[spindle pole] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000993[RNA polymerase II complex binding] GO:0001097[TFIIH-class transcription factor complex binding] GO:0001649[osteoblast differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0003697[single-stranded DNA binding] GO:0003714[transcription corepressor activity] GO:0003723[RNA binding] GO:0003725[double-stranded RNA binding] GO:0003727[single-stranded RNA binding] GO:0003730[mRNA 3'-UTR binding] GO:0003779[actin binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005681[spliceosomal complex] GO:0005694[chromosome] GO:0005697[telomerase holoenzyme complex] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006325[chromatin organization] GO:0006396[RNA processing] GO:0006397[mRNA processing] GO:0007049[cell cycle] GO:0007346[regulation of mitotic cell cycle] GO:0008143[poly(A) binding] GO:0008380[RNA splicing] GO:0009048[dosage compensation by inactivation of X chromosome] GO:0009986[cell surface] GO:0016020[membrane] GO:0016071[mRNA metabolic process] GO:0016363[nuclear matrix] GO:0016607[nuclear speck] GO:0017069[snRNA binding] GO:0017130[poly(C) RNA binding] GO:0030154[cell differentiation] GO:0030496[midbody] GO:0031490[chromatin DNA binding] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032839[dendrite cytoplasm] GO:0032922[circadian regulation of gene expression] GO:0032991[protein-containing complex] GO:0033673[negative regulation of kinase activity] GO:0034046[poly(G) binding] GO:0034244[negative regulation of transcription elongation by RNA polymerase II] GO:0036002[pre-mRNA binding] GO:0036464[cytoplasmic ribonucleoprotein granule] GO:0042802[identical protein binding] GO:0043021[ribonucleoprotein complex binding] GO:0043565[sequence-specific DNA binding] GO:0044877[protein-containing complex binding] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048255[mRNA stabilization] GO:0048511[rhythmic process] GO:0051301[cell division] GO:0051457[maintenance of protein location in nucleus] GO:0055013[cardiac muscle cell development] GO:0070034[telomerase RNA binding] GO:0070934[CRD-mediated mRNA stabilization] GO:0070937[CRD-mediated mRNA stability complex] GO:0071013[catalytic step 2 spliceosome] GO:0071385[cellular response to glucocorticoid stimulus] GO:0072686[mitotic spindle] GO:0090336[positive regulation of brown fat cell differentiation] GO:0090575[RNA polymerase II transcription regulator complex] GO:0098577[inactive sex chromosome] GO:0098963[dendritic transport of messenger ribonucleoprotein complex] GO:0099122[RNA polymerase II C-terminal domain binding] GO:0106222[lncRNA binding] GO:1900152[negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay] GO:1901673[regulation of mitotic spindle assembly] GO:1902275[regulation of chromatin organization] GO:1902425[positive regulation of attachment of mitotic spindle microtubules to kinetochore] GO:1902889[protein localization to spindle microtubule] GO:1990023[mitotic spindle midzone] GO:1990280[RNA localization to chromatin] GO:1990498[mitotic spindle microtubule] GO:1990830[cellular response to leukemia inhibitory factor] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990841[promoter-specific chromatin binding] GO:1990845[adaptive thermogenesis] GO:1990904[ribonucleoprotein complex] GO:2000373[positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity] GO:2000648[positive regulation of stem cell proliferation] GO:2000737[negative regulation of stem cell differentiation] GO:2000767[positive regulation of cytoplasmic translation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
