CFAP68

64776

CFAP68
CFAP68
Identifiers
AliasesCFAP68, chromosome 11 open reading frame 1, C11orf1, Cilia And Flagella Associated Protein 68
External IDsMGI: 1915971; GeneCards: CFAP68
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

64776

68721

Ensembl

ENSG00000137720

ENSMUSG00000037971

UniProt

Q9H5F2

Q9D131

RefSeq (mRNA)

NM_022761
NM_001330371

NM_023483
NM_001311073
NM_001361107
NM_001361108

RefSeq (protein)

NP_001317300
NP_073598

NP_001298002
NP_075972
NP_001348036
NP_001348037

Location (UCSC)Chr 11: 111.88 – 111.89 MbChr 9: 50.67 – 50.69 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chromosome 11 open reading frame one, also known as C11orf1, is a protein-coding gene.[5] It has been found by yeast two hybrid screen to bind to SETDB1 a histone protein methyltransferase enzyme. SETDB1 has been implicated in Huntington's disease, a neurodegenerative disorder.[6]

C11orf1 is a nuclear protein with unknown function but has been shown to show preferential expression in some disease states in microarray data.[7][8]

Species distribution

C11orf1 shows conservation through mammals and orthologs can be found in sea squirts and sea anemone. The below table shows some orthologs found using BLAST.[9]

Species Organism Common Name NCBI Accession Sequence identity Expected value Length (AAs) Gene Common Name
Homo sapiens Human CAG33659 100% 8e−86 150 C11orf1
Bos taurus Bovine NP_001033266.1 85% 1e−70 149 UPF0686 protein C11orf1 homolog
Canis lupus familiaris Dog XP_536577.1 88% 3e−68 485 PREDICTED: hypothetical protein XP_536577 [Canis familiaris]
Mus musculus Mouse NP_075972.2 78% 4e−65 466 hypothetical protein LOC68721 [Mus musculus]
Ciona intestinalis Sea Squirt XP_002127073.1 49% 3e−23 156 PREDICTED: similar to predicted protein [Ciona intestinalis]

Gene

C11orf1 is located on chromosome 11 and is neighbored by:

  • FDXACB1-201
  • ALG9-201
  • ALG9-202
  • AP001781.5-201

Protein

Structure

This protein is part of the UPF0686 superfamily. This family is characterized by the presence of a domain of unknown function (DUF)1143 shared by the family.[10] This family DUF1143 has a domain that includes almost all 149 of the 150 amino acids in the human ortholog. C11orf1 has six splicesomal variants and one unspliced variant.

Predicted properties

The following properties of C11orf1 were predicted using bioinformatic analysis:

  • Molecular Weight: 17.76 KDal[11]
  • Isoelectric point: 7.28[12]
  • Post-translational modification: twelve possible post-translational modifications are predicted:
    • Two O-(N-acetylaminogalactosyl)-L-threonine Glycosylations at position 138 and 142 on the protein sequence[13]
    • Two O-phospho-L-serine Phosphorylation sites at 112 and 141.[13]
    • Four O-phospho-L-threonine Phosphorylation sites at 59, 99, 113, and 138.[13]
    • Four O4'-phospho-L-tyrosine Phosphorylation sites at 64, 101, 105 and 143.[13]

Tissue distribution

C11orf1 appears to be ubiquitously expressed at low levels but particularly high expression in the parathyroid. Expression data indicate expression in most tissues.[14] This gene has also been found in one experiment to be under expressed in Huntington's disease patients while SETDB1 is over-expressed.[7]

Binding partners

The human protein SET domain bifurcated 1, was found to be a binding partner for C11orf1 by Yeast Two Hybrid.[15]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000137720 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037971 – 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. ^ "Entrez Gene: C11orf1".
  6. ^ Thomas EA, Coppola G, Desplats PA, Tang B, Soragni E, et al. (June 2008). "The HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington's disease transgenic mice". Proc. Natl. Acad. Sci. USA. 105 (1): 15564–69. Bibcode:2008PNAS..10515564T. doi:10.1073/pnas.0804249105. PMC 2563081. PMID 18829438.
  7. ^ a b "E-AFMX-6: Transcription profiling of caudate nucleus, frontal cortex, and cerebellum samples from 44 Huntingtons disease HD-gene-positive cases and 36 age- and sex-matched controls".
  8. ^ O'Brien KP, Tapia-Páez I, Ståhle-Bäckdahl M, Kedra D, Dumanski JP (June 2000). "Characterization of five novel human genes in the 11q13-q22 region". Biochemical and Biophysical Research Communications. 273 (1): 90–4. doi:10.1006/bbrc.2000.2910. PMID 10873569.
  9. ^ "BLAST: Basic Local Alignment Search Tool". National Center for Biotechnology Information, United States National Institutes of Health. Retrieved 2009-05-07.
  10. ^ "CDD: Conserved Domain Database (NCBI)".
  11. ^ 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.
  12. ^ Kozlowski, LP (21 October 2016). "IPC - Isoelectric Point Calculator". Biology Direct. 11 (1): 55. doi:10.1186/s13062-016-0159-9. PMC 5075173. PMID 27769290.
  13. ^ a b c d "UniProt Database".
  14. ^ "Unigene (EST profile viewer) Human C11orf1". Archived from the original on November 14, 2012.
  15. ^ "SET domain, bifurcated 1 [Homo sapiens]". Protein. National Center for Biotechnology Information, United States National Institutes of Health. Retrieved 2009-05-10.

Further reading


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