The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016].
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, P?rez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, P?rez-Cerd? C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ American journal of human genetics98(2)310-21(2016 Feb)
The following CCDC115 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the CCDC115 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
coiled-coil domain-containing protein 115 isoform a
Comment
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB025106.1, BC006429.1 and AA831631.1. On Nov 22, 2018 this sequence version replaced NM_032357.3.
Transcript Variant: This variant (1) encodes the longest isoform (a).
Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
##Evidence-Data-START##
Transcript exon combination :: SRR3476690.992963.1, SRR3476690.685372.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000259229.7/ ENSP00000259229.2
RefSeq Select criteria :: based on conservation, expression, longest protein
##RefSeq-Attributes-END##
COMPLETENESS: full length.
coiled-coil domain-containing protein 115 isoform a
Comment
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB025106.1, BC006429.1 and AA831631.1. On Nov 8, 2013 this sequence version replaced NM_032357.2.
Transcript Variant: This variant (1) encodes the longest isoform (a).
Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
##Evidence-Data-START##
Transcript exon combination :: SRR1803613.201112.1, SRR1803617.183802.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
coiled-coil domain-containing protein 115 isoform c
Comment
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BG179982.1, BC006429.1 and AA831631.1.
##Evidence-Data-START##
Transcript exon combination :: BG179982.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
coiled-coil domain-containing protein 115 isoform b
Comment
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DC340780.1, BC006429.1 and AA831631.1. This sequence is a reference standard in the RefSeqGene project. On Mar 18, 2016 this sequence version replaced XM_005263825.1.
##Evidence-Data-START##
Transcript exon combination :: SRR1660807.91207.1, SRR1803612.27259.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
coiled-coil domain-containing protein 115 isoform d
Comment
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC132479.2. On Jul 29, 2019 this sequence version replaced NM_001321119.1.
COMPLETENESS: complete on the 3' end.
User Manual
NM_032357.4
