QRICH1

Last updated
QRICH1
Identifiers
Aliases QRICH1 , glutamine rich 1, VERBRAS, AB-DIP
External IDs OMIM: 617387; MGI: 1916482; HomoloGene: 9803; GeneCards: QRICH1; OMA:QRICH1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001114119
NM_175143

RefSeq (protein)

NP_001107591
NP_780352

Location (UCSC) Chr 3: 49.03 – 49.09 Mb Chr 9: 108.39 – 108.44 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

QRICH1, also known as Glutamine-rich protein 1, is a protein that in humans is encoded by the QRICH1 gene. [5] One notable feature of this protein is that it contains a caspase activation recruitment domain (CARD domain). [6] As a result of having this domain, QRICH1 is believed to be involved in apoptotic, inflammatory, and host-immune response pathways. [7]

Accession NumbersLocationIdentifiersM.W.pI
mRNA: NM_017730.2

protein: NP_060200.2

3p21.31FLJ20259, MFC131838 [5] 86.4 kDa5.59

Gene

The QRICH1 gene is 64,363 base pairs long, encoding an mRNA transcript that is 3331 bp in length. [8] QRICH1 is located on chromosome 3p21.31 and contains 11 exons. [9] The genomic sequence begins at base pair 49,057,531 and ends at base pair 49,141,201. [8]

The gene neighborhood of QRICH1 constructed by NCBI Gene QRICH1 Gene Neighborhood.jpg
The gene neighborhood of QRICH1 constructed by NCBI Gene

Function

The exact function of QRICH1 is not well understood. It is, however, thought to be involved in processes such as inflammation and apoptosis due to the presence of a CARD domain near the beginning of the protein sequence. [7] This protein is predicted to localize to the nucleus and is known to interact with the ATXN1 and ATF7IP proteins shown in the image below. [11]

Protein

The glutamine-rich protein 1 is 776 amino acids in length. Glutamine residues are abundant, comprising 109 of the amino acids or 14% of the protein. [12] The protein contains three distinct domains. The first, a CARD domain, is a member of the death fold superfamily and is involved in apoptosis signaling pathways, immune signaling, inflammation, and host-defense mechanisms. [6] The second domain is a glutamine-rich domain which comprises a majority of the protein and is highly conserved among orthologs. [6] The final domain is a Domain of unknown function (DUF3504) found near the end of the protein sequence. [6] All three of these domains are well conserved throughout strict orthologs.

Predicted features

Properties of QRICH1 that were predicted using Bioinformatics tools:

Expression

QRICH1 is expressed at a high level, 3.3 times the average gene. [22] It is expressed ubiquitously throughout the human body, although EST Profile data reveal that QRICH1 is expressed particularly high in tissues such as the thymus, testis, cerebellar cortex and other areas of the brain, trachea, and in embryonic tissue. Health states such as germ cell tumors, leukemia, lymphoma, and chondrosarcoma have also reported high QRICH1 expression.

Homology

Orthologs

QRICH1 is highly conserved among mammalian orthologs, along with other chordates such as fish, birds, and amphibians. The gene has some conservation among insects, but there were no orthologs found in plants, fungi, or yeast. [23]

Genus/speciesOrganism common nameAccession numberSequence identitySequence similarityLength (AAs)
Pan troglodytes ChimpanzeeXP_001161499.199%99%766
Macaca mulatta Rhesus macaqueXP_001110386.299%99%659
Pongo abelii OrangutanXP_002813809.199%99%777
Mus musculus House mouseNP_780352.299%99%777
Rattus norvegicus Norway ratNP_001128004.199%99%687
Canis familiaris DogXP_850904.199%99%780
Bos taurus CowNP_001091484.199%99%779
Sus scrofa Wild boarXP_003132250.199%99%781
Oryctolagus cuniculus European rabbitXP_002713458.199%99%777
Ailuropoda melanoleuca Giant pandaXP_002920598.199%99%780
Callithrix jacchus MarmosetXP_002758378.199%99%777
Equus caballus HorseXP_001498380.298%98%780
Monodelphis domestica OpossumXP_001367745.195%97%776
Gallus gallus ChickenXP_001233527.194%96%773
Ornithorhynchus anatinus PlatypusXP_001505372.194%95%741
Taeniopygia guttata Zebra finchXP_002187824.193%97%772
Xenopus laevis African clawed frogNP_001083416.179%85%755
Tetraodon nigroviridis PufferfishCAG11318.171%80%729
Danio rerio Zebra fishNP_001020633.163%73%717
Apis mellifera BeeXP_624959.247%64%1356
Camponotus floridanus Carpenter antEFN71787.145%63%1724

Paralogs

QRICH1 has five paralogs all of which encode a zinc finger protein. [24]

Role in human disease

Ververi-Brady syndrome is caused by mutations in the gene encoding QRICH1. [25]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000198218 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006673 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: QRICH1 glutamine-rich 1" . Retrieved 22 April 2011.
  6. 1 2 3 4 "UniprotKB" . Retrieved 3 March 2011.
  7. 1 2 "The Pawson Lab: CARD Domain". Archived from the original on 28 September 2011. Retrieved 28 April 2011.
  8. 1 2 "Gene: 54780" . Retrieved 2 February 2011.
  9. "GenBank: Homo Sapiens glutamine-rich 1 (QRICH1), transcript variant 1, mRNA" . Retrieved 29 January 2011.
  10. "NCBI Gene: 54870" . Retrieved 2 February 2011.
  11. "Predicted Functional Partners" . Retrieved 1 May 2017.
  12. "SAPS: Biology Workbench" . Retrieved 19 April 2011.
  13. Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S (March 1992). "Methods and algorithms for statistical analysis of protein sequences". Proceedings of the National Academy of Sciences of the United States of America. 89 (6): 2002–6. Bibcode:1992PNAS...89.2002B. doi: 10.1073/pnas.89.6.2002 . PMC   48584 . PMID   1549558.
  14. "Computer pI/Mw". Archived from the original on 28 March 2010. Retrieved 11 April 2011.
  15. "PhosphoSitePlus" . Retrieved 13 April 2011.
  16. "NetPhos" . Retrieved 13 April 2011.
  17. "Sulfinator" . Retrieved 11 April 2011.
  18. Bendtsen JD, Nielsen H, von Heijne G, Brunak S (July 2004). "Improved prediction of signal peptides: SignalP 3.0". Journal of Molecular Biology. 340 (4): 783–95. CiteSeerX   10.1.1.165.2784 . doi:10.1016/j.jmb.2004.05.028. PMID   15223320.
  19. "STRING8.3". Archived from the original on 4 July 2011. Retrieved 22 April 2011.
  20. "Spinocerebellar ataxia type 1" . Retrieved 22 April 2011.
  21. "Activating Transcription Factor 7 Interacting Protein" . Retrieved 23 April 2011.
  22. "AceView: Homo sapiens complex locus QRICH1, encoding glutamine-rich 1" . Retrieved 16 February 2011.
  23. "BLAST" . Retrieved 16 February 2011.
  24. "GeneCards" . Retrieved 18 April 2011.
  25. https://www.omim.org/entry/617982

This article incorporates text from the United States National Library of Medicine, which is in the public domain.