CCDC115 - coiled-coil domain containing 115 Gene

Also Known as ccp1; CDG2O

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84317

About CCDC115

Cytogenetic location: 2q21.1 Genomic coordinates (GRCh38): 2:130,337,933-130,342,681 (from NCBI)

This gene has 5 transcripts (splice variants), 182 orthologues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 17.0), thyroid (RPKM 15.4) and 25 other tissues.

Summary

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 Products (3)

mRNA	Protein	Name
NM_001321118.1	NP_001308047.1	coiled-coil domain-containing protein 115 isoform b
NM_001321119.2	NP_001308048.2	coiled-coil domain-containing protein 115 isoform d
NM_032357.4	NP_115733.2	coiled-coil domain-containing protein 115 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to increased oxygen levels	IMP IMP: Inferred from mutant phenotype	28296633	GOA
involved in intracellular iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	28296633	GOA
involved in lysosomal lumen acidification	IMP IMP: Inferred from mutant phenotype	28296633	GOA
involved in lysosomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	28296633	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in COPI-coated vesicle	IDA IDA: Inferred from direct assay	26833332	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	28296633	GOA
located in endoplasmic reticulum-Golgi intermediate compartment	IDA IDA: Inferred from direct assay	26833332	GOA
part of vacuolar proton-transporting V-type ATPase complex	IDA IDA: Inferred from direct assay	28296633	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
coiled-coil domain-containing protein 115

CCDC115 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CCDC115	Q96NT0	MIS18A	Homo sapiens	Q9NYP9	Validated Y2H	32296183
Intra	CCDC115	Q96NT0	ABI2	Homo sapiens	Q9NYB9-2	Validated Y2H	32296183
Intra	CCDC115	Q96NT0	RARS1	Homo sapiens	P54136	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Iio	CDG2O Ccdc115-Cdg Cdg Iio Congenital Disorder Of Glycosylation Type Iio Cdgiio Carbohydrate Deficient Glycoprotein Syndrome Type Iio Cdg Syndrome Type Iio Congenital Disorder Of Glycosylation Type 2o Cdg-Iio Cdgiido Congenital Disorder Of Glycosylation 2o Glycosylation, Congenital Disorder Of, Type Iio
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Congenital Disorder Of Glycosylation, Type Iip	CDG2P Tmem199-Cdg Cdg Iip Congenital Disorder Of Glycosylation Type Iip Cdgiip Carbohydrate Deficient Glycoprotein Syndrome Type Iip Cdg Syndrome Type Iip Congenital Disorder Of Glycosylation Type 2p Cdg-Iip Cdgiidp Congenital Disorder Of Glycosylation 2p
Seminal Vesicle Tumor	Tumor Of Seminal Vesicle Seminal Vesicle Neoplasm Seminal Vesicle Tumour Tumour Of Seminal Vesicle
Wilson Disease	Hepatolenticular Degeneration WD Wilson'S Disease WND Westphal-Strumpell Syndrome Copper Storage Disease Cerebral Pseudosclerosis Westphal Pseudosclerosis Hepatolenticular Degeneration Syndrome Copper Retention Hepatocerebral Degeneration Kinnier-Wilson Disease Neurohepatic Degeneration Progressive Hepatolenticular Degeneration Lenticular Degenerative Disease Wilson'S Syndrome Lenticular Syndrome
Cholesterol Ester Storage Disease
Myopathy, X-Linked, With Excessive Autophagy	X-Linked Myopathy With Excessive Autophagy Xmea MEAX Vacuolar Myopathy
Male Reproductive Organ Benign Neoplasm
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Dowling-Degos Disease	Reticular Pigment Anomaly Of Flexures Dark Dot Disease Reticulate Acropigmentation Of Kitamura Dowling-Degos Kitamura Disease Kitamura Reticulate Acropigmentation Ddd Dowling-Degos-Kitamura Disease Reticular Pigmented Anomaly Of Flexures
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Mednik Syndrome Erythrokeratodermia Variabilis 3 MEDNIK Ekv3 Erythrokeratodermia Variabilis, Kamouraska Type Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma Erythrokeratodermia Variabilis Kamouraska Type Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02025	CCDC115 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CCDC115	VGNC	VGNC:104516
Canis familiaris	CCDC115	VGNC	VGNC:38784
Mus musculus	CCDC115	MGD	MGI:1916918
Felis catus	CCDC115	VGNC	VGNC:102174
Rattus norvegicus	CCDC115	RGD	RGD:1304653
Others	CCDC115	NCBI