Q96PU8 (QKI_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 99.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein quaking Short name=Hqk Short name=HqkI | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 341 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | RNA-binding protein that plays a central role in myelinization. Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA core sequence. Acts by regulating pre-mRNA splicing, mRNA export, mRNA stability and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor By similarity. Ref.9 |
| Subunit structure | Homodimer. Does not require RNA to homodimerize. Able to heterodimerize with BICC1 By similarity. |
| Subcellular location | |
| Tissue specificity | Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic patients. Ref.8 |
| Post-translational modification | Methylated by PRMT1 By similarity. Ref.7 Ref.11 Tyrosine phosphorylated at its C-terminus, probably by FYN. Phosphorylation leads to decreased mRNA-binding affinity, affecting transport and/or stabilization of MBP mRNA By similarity. |
| Sequence similarities | Contains 1 KH domain. |
| Sequence caution | The sequence AAF63412.1 differs from that shown. Reason: Chimeric cDNA. The sequence AAF63413.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence AAF63413.1 differs from that shown. Reason: Cloning artifact in N-terminus. The sequence AAF63414.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence AAF63414.1 differs from that shown. Reason: Cloning artifact in N-terminus. The sequence AAF63415.1 differs from that shown. Reason: Chimeric cDNA. The sequence AAF63416.1 differs from that shown. Reason: Chimeric cDNA. The sequence AAF63417.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence AAF63417.1 differs from that shown. Reason: Cloning artifact in N-terminus. The sequence BAB55032.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| HNRNPK | P61978 | 3 | EBI-945792,EBI-304185 | |
| PCBP1 | Q15365 | 2 | EBI-945792,EBI-946095 | |
| PTBP1 | P26599 | 2 | EBI-945792,EBI-350540 | |
| RBFOX1 | Q9NWB1 | 2 | EBI-945792,EBI-945906 | |
| RBFOX2 | O43251 | 2 | EBI-945792,EBI-746056 | |
| RBPMS | Q93062 | 2 | EBI-945792,EBI-740322 |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96PU8-1) Also known as: HQK-5; QKI-5; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q96PU8-3) The sequence of this isoform differs from the canonical sequence as follows: 213-220: Missing. | ||||||
| Isoform 3 (identifier: Q96PU8-5) The sequence of this isoform differs from the canonical sequence as follows: 213-220: Missing. 312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → EWIEMPVMPDISAH | ||||||
| Isoform 4 (identifier: Q96PU8-6) Also known as: HQK-7; The sequence of this isoform differs from the canonical sequence as follows: 312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → EWIEMPVMPDISAH | ||||||
| Isoform 5 (identifier: Q96PU8-8) Also known as: HQK-7B; The sequence of this isoform differs from the canonical sequence as follows: 312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → GKFFSPWG | ||||||
| Isoform 6 (identifier: Q96PU8-9) The sequence of this isoform differs from the canonical sequence as follows: 312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → GMAFPTKG | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 341 | 341 | Protein quaking | PRO_0000239373 | |||||
Regions | |||||||||
| Domain | 87 – 153 | 67 | KH | ||||||
| Motif | 276 – 279 | 4 | SH3-binding | ||||||
| Motif | 324 – 330 | 7 | Nuclear localization signal By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 242 | 1 | Asymmetric dimethylarginine; by CARM1 Ref.11 | ||||||
Natural variations | |||||||||
| Alternative sequence | 213 – 220 | 8 | Missing in isoform 2 and isoform 3. | VSP_019188 | |||||
| Alternative sequence | 312 – 341 | 30 | GAVAT…AATGN → EWIEMPVMPDISAH in isoform 3 and isoform 4. | VSP_019190 | |||||
| Alternative sequence | 312 – 341 | 30 | GAVAT…AATGN → GKFFSPWG in isoform 5. | VSP_019191 | |||||
| Alternative sequence | 312 – 341 | 30 | GAVAT…AATGN → GMAFPTKG in isoform 6. | VSP_019189 | |||||
| Natural variant | 336 | 1 | R → Q in a colorectal cancer sample; somatic mutation. Ref.12 | VAR_036051 | |||||
Experimental info | |||||||||
| Sequence conflict | 30 | 1 | S → G in ABC88600. Ref.3 | ||||||
| Sequence conflict | 208 | 1 | N → D in AAH12222. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Expression of Hqk encoding a KH RNA binding protein is altered in human glioma." Li Z.Z., Kondo T., Murata T., Ebersole T.A., Nishi T., Tada K., Ushio Y., Yamamura K., Abe K. Jpn. J. Cancer Res. 93:167-177(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 4 AND 5). Tissue: Brain. |
| [2] | "Molecular cloning of human QUAKING gene." Xia J.-H., Xiao J.-F., He Y.-G., Yu K.-P., Pan Q., Dai H.-P. Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-341 (ISOFORM 6). |
| [3] | Li H., Nong W., Zhou G., Ke R., Shen C., Zhong G., Liang M., Tang Z., Huang B., Lin L., Yang S. Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-341 (ISOFORM 3). |
| [4] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta and Skin. |
| [6] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-341 (ISOFORM 1). Tissue: Embryo. |
| [7] | "Sam68 RNA binding protein is an in vivo substrate for protein arginine N-methyltransferase 1." Cote J., Boisvert F.-M., Boulanger M.-C., Bedford M.T., Richard S. Mol. Biol. Cell 14:274-287(2003) [PubMed] [Europe PMC] [Abstract] Cited for: METHYLATION. |
| [8] | "Human QKI, a new candidate gene for schizophrenia involved in myelination." Aeberg K., Saetre P., Lindholm E., Ekholm B., Pettersson U., Adolfsson R., Jazin E. Am. J. Med. Genet. B Neuropsychiatr. Genet. 141:84-90(2006) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [9] | "Human QKI, a potential regulator of mRNA expression of human oligodendrocyte-related genes involved in schizophrenia." Aberg K., Saetre P., Jareborg N., Jazin E. Proc. Natl. Acad. Sci. U.S.A. 103:7482-7487(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION AS REGULATOR OF OLIGODENDROCYTE DIFFERENTIATION. |
| [10] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [11] | "A Y2H-seq approach defines the human protein methyltransferase interactome." Weimann M., Grossmann A., Woodsmith J., Ozkan Z., Birth P., Meierhofer D., Benlasfer N., Valovka T., Timmermann B., Wanker E.E., Sauer S., Stelzl U. Nat. Methods 0:0-0(2013) [PubMed] [Europe PMC] [Abstract] Cited for: METHYLATION AT ARG-242 BY CARM1. |
| [12] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-336. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB067798 mRNA. Translation: BAB69496.1. AB067799 mRNA. Translation: BAB69497.1. AB067800 mRNA. Translation: BAB69498.1. AB067801 mRNA. Translation: BAB69499.1. AB067808 Genomic DNA. Translation: BAB69681.1. AF142417 mRNA. Translation: AAF63412.1. Sequence problems. AF142418 mRNA. Translation: AAF63413.1. Sequence problems. AF142419 mRNA. Translation: AAF63414.1. Sequence problems. AF142420 mRNA. Translation: AAF63415.1. Sequence problems. AF142421 mRNA. Translation: AAF63416.1. Sequence problems. AF142422 mRNA. Translation: AAF63417.1. Sequence problems. AY780788 mRNA. Translation: AAV98358.1. DQ323998 mRNA. Translation: ABC88600.1. AL356119, AL031781 Genomic DNA. Translation: CAI23022.1. AL356119, AL031781 Genomic DNA. Translation: CAI23023.1. AL356119, AL031781 Genomic DNA. Translation: CAI23024.1. AL031781, AL356119 Genomic DNA. Translation: CAI21651.1. AL031781, AL356119 Genomic DNA. Translation: CAI21652.1. AL031781, AL356119 Genomic DNA. Translation: CAI21653.1. BC012222 mRNA. Translation: AAH12222.1. BC019917 mRNA. Translation: AAH19917.1. AK027309 mRNA. Translation: BAB55032.1. Different initiation. |
| IPI | IPI00385562. IPI00514277. IPI00736672. IPI00749287. IPI00759828. IPI00942653. |
| RefSeq | NP_006766.1. NM_006775.2. NP_996735.1. NM_206853.2. NP_996736.1. NM_206854.2. NP_996737.1. NM_206855.2. |
| UniGene | Hs.510324. |
3D structure databases | |
| ProteinModelPortal | Q96PU8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96PU8. 23 interactions. |
| MINT | MINT-1445480. |
PTM databases | |
| PhosphoSite | Q96PU8. |
Polymorphism databases | |
| DMDM | 74761039. |
Proteomic databases | |
| PaxDb | Q96PU8. |
| PRIDE | Q96PU8. |
Protocols and materials databases | |
| DNASU | 9444. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000275262; ENSP00000275262; ENSG00000112531. ENST00000361195; ENSP00000354867; ENSG00000112531. ENST00000361752; ENSP00000355094; ENSG00000112531. ENST00000361758; ENSP00000354951; ENSG00000112531. ENST00000392127; ENSP00000375973; ENSG00000112531. ENST00000424802; ENSP00000408382; ENSG00000112531. ENST00000453779; ENSP00000408775; ENSG00000112531. |
| GeneID | 9444. |
| KEGG | hsa:9444. |
| UCSC | uc003que.3. human. uc003quf.3. human. uc003qug.3. human. uc003quh.3. human. uc003qui.3. human. uc003quj.3. human. |
Organism-specific databases | |
| CTD | 9444. |
| GeneCards | GC06P163835. |
| HGNC | HGNC:21100. QKI. |
| HPA | CAB022602. HPA019123. |
| MIM | 609590. gene. |
| neXtProt | NX_Q96PU8. |
| PharmGKB | PA134912180. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5176. |
| HOVERGEN | HBG093883. |
| InParanoid | Q96PU8. |
| KO | K14945. |
| OMA | GMAFPTK. |
| OrthoDB | EOG4RFKSZ. |
Gene expression databases | |
| ArrayExpress | Q96PU8. |
| Bgee | Q96PU8. |
| Genevestigator | Q96PU8. |
| GermOnline | ENSG00000112531. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004087. KH_dom. IPR004088. KH_dom_type_1. [Graphical view] |
| Pfam | PF00013. KH_1. 1 hit. [Graphical view] |
| SMART | SM00322. KH. 1 hit. [Graphical view] |
| PROSITE | PS50084. KH_TYPE_1. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | QKI. human. |
| GenomeRNAi | 9444. |
| NextBio | 35368. |
| SOURCE | Search... |
Entry information
| Entry name | QKI_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96PU8 Secondary accession number(s): Q2I375 Q9P0Y1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
