Pacer (protein)

Protein-coding gene in the species Homo sapiens

RUBCNL

Identifiers
Aliases| RUBCNL, C13orf18, KIAA0226L, KIAA0226-like, KIAA0226 like, RUN and cysteine rich domain containing beclin 1 interacting protein like, PACER, rubicon like autophagy regulator, rubicon like autophagy enhancer
External IDs| MGI: 2685590; HomoloGene: 57021; GeneCards: RUBCNL; OMA:RUBCNL - orthologs
| Gene location (Human)

Chr.| Chromosome 13 (human)[1]

Band| 13q14.13| Start| 46,334,681 bp[1]
End| 46,438,190 bp[1]
| Gene location (Mouse)

Chr.| Chromosome 14 (mouse)[2]

Band| 14|14 D3| Start| 75,253,467 bp[2]
End| 75,289,972 bp[2]
| RNA expression pattern

Bgee| | Human| Mouse (ortholog)

|

| Top expressed in

* periodontal fiber

* blood

* spleen

* sperm

* appendix

* lymph node

* rectum

* epithelium of nasopharynx

* mucosa of sigmoid colon

* bone marrow

| Top expressed in

* spleen

* granulocyte

* bone marrow

* primary oocyte

* secondary oocyte

* zygote

* adrenal gland

* islet of Langerhans

* embryo

* thymus

More reference expression data
BioGPS| | n/a

| Orthologs

Species| Human| Mouse
Entrez| |

80183

271221

Ensembl| |

ENSG00000102445

ENSMUSG00000034959

UniProt| |

Q9H714

Q3TD16

RefSeq (mRNA)| | NM_025113
NM_001286761
NM_001286762
NM_001286763
NM_001286764

NM_001286765
NM_001286766
NM_001349772

NM_198642
NM_001374214

RefSeq (protein)| | NP_001273690
NP_001273691
NP_001273692
NP_001273693
NP_001273694

NP_001273695
NP_079389
NP_001336701

NP_941044
NP_001361143

Location (UCSC)| Chr 13: 46.33 – 46.44 Mb| Chr 14: 75.25 – 75.29 Mb
PubMed search| [3]| [4]
Wikidata
| View/Edit Human| View/Edit Mouse

|

Pacer (also known as Rubicon-like) is a protein that in humans is encoded by the RUBCNL gene.[5] Pacer has been shown to increase cellular autophagy through regulation of PI3KC3.[6]

Pacer contains a Rubicon homology (RH) domain at its C-terminus, which mediates binding to small GTPase Rab7 when Rab7 is phosphorylated following mitochondrial damage.[7][5][8] This domain is shared with RH domain containing family members Rubicon and PLEKHM1.[9] Whereas Pacer appears to upregulate autophagic activity, Rubicon is a negative regulator of autophagy.[9]

## References

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102445 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034959 – 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. ^ a b "RUBCNL - Protein associated with UVRAG as autophagy enhancer - Homo sapiens (Human) - RUBCNL gene & protein". www.uniprot.org. Retrieved 2022-05-31.
6. ^ Cheng X, Ma X, Ding X, Li L, Jiang X, Shen Z, et al. (March 2017). "Pacer Mediates the Function of Class III PI3K and HOPS Complexes in Autophagosome Maturation by Engaging Stx17". Molecular Cell. 65 (6): 1029–1043.e5. doi:10.1016/j.molcel.2017.02.010. PMID 28306502.
7. ^ Tudorica DA, Basak B, Puerta Cordova AS, Khuu G, Rose K, Lazarou M, et al. (July 2024). "A RAB7A phosphoswitch coordinates Rubicon Homology protein regulation of Parkin-dependent mitophagy". The Journal of Cell Biology. 223 (7). doi:10.1083/jcb.202309015. PMC 11090050. PMID 38728007.
8. ^ Bhargava HK, Tabata K, Byck JM, Hamasaki M, Farrell DP, Anishchenko I, et al. (July 2020). "Structural basis for autophagy inhibition by the human Rubicon-Rab7 complex". Proceedings of the National Academy of Sciences of the United States of America. 117 (29): 17003–17010\. Bibcode:2020PNAS..11717003B. doi:10.1073/pnas.2008030117. PMC 7382272. PMID 32632011.
9. ^ a b Beltran S, Nassif M, Vicencio E, Arcos J, Labrador L, Cortes BI, et al. (March 2019). "Network approach identifies Pacer as an autophagy protein involved in ALS pathogenesis". Molecular Neurodegeneration. 14 (1): 14. doi:10.1186/s13024-019-0313-9. PMC 6437924. PMID 30917850.

## Further reading

[edit]

* Ng D, Hu N, Hu Y, Wang C, Giffen C, Tang ZZ, et al. (October 2008). "Replication of a genome-wide case-control study of esophageal squamous cell carcinoma". International Journal of Cancer. 123 (7): 1610–1615\. doi:10.1002/ijc.23682. PMC 2552411. PMID 18649358.
* Cronin S, Tomik B, Bradley DG, Slowik A, Hardiman O (February 2009). "Screening for replication of genome-wide SNP associations in sporadic ALS". European Journal of Human Genetics. 17 (2): 213–218\. doi:10.1038/ejhg.2008.194. PMC 2986065. PMID 18987618.
* Yang N, Eijsink JJ, Lendvai A, Volders HH, Klip H, Buikema HJ, et al. (November 2009). "Methylation markers for CCNA1 and C13ORF18 are strongly associated with high-grade cervical intraepithelial neoplasia and cervical cancer in cervical scrapings". Cancer Epidemiology, Biomarkers & Prevention. 18 (11): 3000–3007\. doi:10.1158/1055-9965.EPI-09-0405. PMID 19843677.
* Eijsink JJ, Lendvai Á, Deregowski V, Klip HG, Verpooten G, Dehaspe L, et al. (April 2012). "A four-gene methylation marker panel as triage test in high-risk human papillomavirus positive patients". International Journal of Cancer. 130 (8): 1861–1869\. doi:10.1002/ijc.26326. PMID 21796628. S2CID 35295117.
* Huisman C, Wisman GB, Kazemier HG, van Vugt MA, van der Zee AG, Schuuring E, et al. (June 2013). "Functional validation of putative tumor suppressor gene C13ORF18 in cervical cancer by Artificial Transcription Factors". Molecular Oncology. 7 (3): 669–679\. doi:10.1016/j.molonc.2013.02.017. PMC 5528488. PMID 23522960.

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