Reviewed,
UniProtKB/Swiss-Prot Q96PU8 (QKI_HUMAN)
Last modified
July 22, 2008.
Version 54.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Protein quaking Alternative name(s): HqkI Short name=Hqk | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| 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. |
| Sequence processing | The displayed sequence is not processed. |
| 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 which promotes oligodendrocyte differentiation. 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. |
| 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. |
| Post-translational modification | Methylated by PRMT1 By similarity. 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. |
| Involvement in disease | May play a role in genetic susceptibility to schizophrenia. QKI levels of some isoforms such as isoform 6, are frequently down-regulated in schizophrenic patients. Deletion of the QKI gene may play a role in astrocytic tumors. |
| Sequence similarities | Contains 1 KH domain. |
| Sequence caution | The sequence AAF63412.1 differs from that shown. Reason: Miscellaneous discrepancy. Chimeric cDNA. The sequence AAF63415.1 differs from that shown. Reason: Miscellaneous discrepancy. Chimeric cDNA. The sequence AAF63416.1 differs from that shown. Reason: Miscellaneous discrepancy. Chimeric cDNA. |
Ontologies
Keywords | |
|---|---|
| Biological process | Differentiation Translation regulation Transport mRNA processing mRNA splicing mRNA transport |
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | SH3-binding |
| Ligand | RNA-binding |
| Molecular function | Developmental protein |
| PTM | Methylation Phosphoprotein |
Gene Ontology (GO) | |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| A2BP1 | Q9NWB1 | 1 | EBI-945792,EBI-945906 | |
| HNRPK | P61978 | 1 | EBI-945792,EBI-304185 | |
| PCBP1 | Q15365 | 1 | EBI-945792,EBI-946095 | |
| PTBP1 | P26599 | 1 | EBI-945792,EBI-350540 | |
| RBM9 | O43251 | 1 | EBI-945792,EBI-746056 | |
| RBPMS | Q93062 | 1 | EBI-945792,EBI-740322 |
Alternative products
| This entry describes 8 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: Q96PU8-2) Also known as: HQK-6; The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MLSLSSLRRNSGRNSGSCGAWNM 312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → GMAFPTKG | |||||
| Isoform 3 (identifier: Q96PU8-3) The sequence of this isoform differs from the canonical sequence as follows: 213-220: Missing. | |||||
| Isoform 4 (identifier: Q96PU8-4) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MLSLSSLRRNSGRNSGSCGAWNM | |||||
| Isoform 5 (identifier: Q96PU8-5) The sequence of this isoform differs from the canonical sequence as follows: 213-220: Missing. 312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → EWIEMPVMPDISAH | |||||
| Isoform 6 (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 7 (identifier: Q96PU8-7) The sequence of this isoform differs from the canonical sequence as follows: 1-1: M → MLSLSSLRRNSGRNSGSCGAWNM 312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → EWIEMPVMPDISAH | |||||
| Isoform 8 (identifier: Q96PU8-8) Also known as: HQK-7B; The sequence of this isoform differs from the canonical sequence as follows: 312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → GKFFSPWG |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | ||||
Molecule processing | ||||||||
|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 341 | 341 | Protein quaking | |||||
Regions | ||||||||
| Domain | 87 – 153 | 67 | KH | |||||
| Motif | 276 – 279 | 4 | SH3-binding | |||||
| Motif | 324 – 330 | 7 | Nuclear localization signal By similarity | |||||
Natural variations | ||||||||
| Alternative sequence | 1 | 1 | M → MLSLSSLRRNSGRNSGSCGA WNM in isoform 2, isoform 4 and isoform 7. | |||||
| Alternative sequence | 213 – 220 | 8 | Missing in isoform 3 and isoform 5. | |||||
| Alternative sequence | 312 – 341 | 30 | GAVAT…AATGN → GMAFPTKG in isoform 2. | |||||
| Alternative sequence | 312 – 341 | 30 | GAVAT…AATGN → EWIEMPVMPDISAH in isoform 5, isoform 6 and isoform 7. | |||||
| Alternative sequence | 312 – 341 | 30 | GAVAT…AATGN → GKFFSPWG in isoform 8. | |||||
| Natural variant | 336 | 1 | R → Q in a colorectal cancer sample; somatic mutation. | |||||
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: 11856480] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 6 AND 8). 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 2; 4 AND 7), NUCLEOTIDE SEQUENCE [MRNA] OF 5-341 (ISOFORM 9). |
| [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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-341 (ISOFORM 5). |
| [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: 14574404] [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: 15489334] [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-341. Tissue: Embryo. |
| [7] | "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: 16342280] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN SCHIZOPHRENIA. |
| [8] | "Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH." Ichimura K., Mungall A.J., Fiegler H., Pearson D.M., Dunham I., Carter N.P., Collins V.P. Oncogene 25:1261-1271(2006) [PubMed: 16205629] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN ASTROCYTIC TUMORS. |
| [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: 16641098] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN SCHIZOPHRENIA. |
| [10] | "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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-336. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| 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. AF142419 mRNA. Translation: AAF63414.1. AF142420 mRNA. Translation: AAF63415.1. AF142421 mRNA. Translation: AAF63416.1. Sequence problems. AF142422 mRNA. Translation: AAF63417.1. 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. | |

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