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Protein

Coiled-coil domain-containing protein 115

Gene

CCDC115

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in Golgi homeostasis.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 115
Gene namesi
Name:CCDC115
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:28178. CCDC115.

Subcellular locationi

GO - Cellular componenti

  • COPI-coated vesicle Source: UniProtKB
  • endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
  • endosome Source: UniProtKB-SubCell
  • lysosome Source: UniProtKB-SubCell
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Endosome, Lysosome

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 2O (CDG2O)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability.
See also OMIM:616828
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111D → Y in CDG2O. 1 Publication
VAR_075752
Natural varianti31 – 311L → S in CDG2O. 1 Publication
VAR_075753

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

MIMi616828. phenotype.
PharmGKBiPA145149287.

Polymorphism and mutation databases

DMDMi74732634.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 180180Coiled-coil domain-containing protein 115PRO_0000279403Add
BLAST

Proteomic databases

EPDiQ96NT0.
MaxQBiQ96NT0.
PaxDbiQ96NT0.
PeptideAtlasiQ96NT0.
PRIDEiQ96NT0.
TopDownProteomicsiQ96NT0-1. [Q96NT0-1]

PTM databases

iPTMnetiQ96NT0.
PhosphoSiteiQ96NT0.

Expressioni

Tissue specificityi

Expressed throughout the brain.1 Publication

Gene expression databases

BgeeiQ96NT0.
CleanExiHS_CCDC115.
ExpressionAtlasiQ96NT0. baseline and differential.
GenevisibleiQ96NT0. HS.

Organism-specific databases

HPAiHPA034597.
HPA034598.

Interactioni

Protein-protein interaction databases

BioGridi124043. 27 interactions.
IntActiQ96NT0. 20 interactions.
MINTiMINT-8247427.
STRINGi9606.ENSP00000259229.

Structurei

3D structure databases

ProteinModelPortaliQ96NT0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili16 – 3722Sequence analysisAdd
BLAST
Coiled coili153 – 17624Sequence analysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410J11Y. Eukaryota.
ENOG410Y0F4. LUCA.
GeneTreeiENSGT00390000012929.
HOGENOMiHOG000057289.
HOVERGENiHBG055300.
InParanoidiQ96NT0.
OMAiEQGWFSI.
OrthoDBiEOG7SFJ0S.
PhylomeDBiQ96NT0.
TreeFamiTF324647.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96NT0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAALDLRAEL DSLVLQLLGD LEELEGKRTV LNARVEEGWL SLAKARYAMG
60 70 80 90 100
AKSVGPLQYA SHMEPQVCLH ASEAQEGLQK FKVVRAGVHA PEEVGPREAG
110 120 130 140 150
LRRRKGPTKT PEPESSEAPQ DPLNWFGILV PHSLRQAQAS FRDGLQLAAD
160 170 180
IASLQNRIDW GRSQLRGLQE KLKQLEPGAA
Length:180
Mass (Da):19,761
Last modified:December 1, 2001 - v1
Checksum:i45DEB6AF24F59452
GO
Isoform 2 (identifier: Q96NT0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: MAALDLRAELDSLVLQLLGDLEELEGKRTVLNARVE → MGTPLDGGSRVPIGCPAKLRRVTRKKVAPDL
     145-180: LQLAADIASL...KLKQLEPGAA → VLEAKKRKCF...VPAETSAKAI

Note: No experimental confirmation available.
Show »
Length:188
Mass (Da):20,385
Checksum:iE01CEF83363912C7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111D → Y in CDG2O. 1 Publication
VAR_075752
Natural varianti31 – 311L → S in CDG2O. 1 Publication
VAR_075753

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3636MAALD…NARVE → MGTPLDGGSRVPIGCPAKLR RVTRKKVAPDL in isoform 2. 1 PublicationVSP_056115Add
BLAST
Alternative sequencei145 – 18036LQLAA…EPGAA → VLEAKKRKCFLERVIQCVVS PAAEQEAEDESCPEDWAAAV PAETSAKAI in isoform 2. 1 PublicationVSP_056116Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054693 mRNA. Translation: BAB70794.1.
AK295922 mRNA. Translation: BAG58709.1.
AC132479 Genomic DNA. Translation: AAY24075.1.
BC006429 mRNA. Translation: AAH06429.2.
CCDSiCCDS2159.1. [Q96NT0-1]
RefSeqiNP_115733.2. NM_032357.3. [Q96NT0-1]
UniGeneiHs.104203.
Hs.601991.

Genome annotation databases

EnsembliENST00000259229; ENSP00000259229; ENSG00000136710. [Q96NT0-1]
GeneIDi84317.
KEGGihsa:84317.
UCSCiuc002tqy.3. human. [Q96NT0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054693 mRNA. Translation: BAB70794.1.
AK295922 mRNA. Translation: BAG58709.1.
AC132479 Genomic DNA. Translation: AAY24075.1.
BC006429 mRNA. Translation: AAH06429.2.
CCDSiCCDS2159.1. [Q96NT0-1]
RefSeqiNP_115733.2. NM_032357.3. [Q96NT0-1]
UniGeneiHs.104203.
Hs.601991.

3D structure databases

ProteinModelPortaliQ96NT0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124043. 27 interactions.
IntActiQ96NT0. 20 interactions.
MINTiMINT-8247427.
STRINGi9606.ENSP00000259229.

PTM databases

iPTMnetiQ96NT0.
PhosphoSiteiQ96NT0.

Polymorphism and mutation databases

DMDMi74732634.

Proteomic databases

EPDiQ96NT0.
MaxQBiQ96NT0.
PaxDbiQ96NT0.
PeptideAtlasiQ96NT0.
PRIDEiQ96NT0.
TopDownProteomicsiQ96NT0-1. [Q96NT0-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259229; ENSP00000259229; ENSG00000136710. [Q96NT0-1]
GeneIDi84317.
KEGGihsa:84317.
UCSCiuc002tqy.3. human. [Q96NT0-1]

Organism-specific databases

CTDi84317.
GeneCardsiCCDC115.
H-InvDBHIX0200289.
HGNCiHGNC:28178. CCDC115.
HPAiHPA034597.
HPA034598.
MIMi613734. gene.
616828. phenotype.
neXtProtiNX_Q96NT0.
PharmGKBiPA145149287.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J11Y. Eukaryota.
ENOG410Y0F4. LUCA.
GeneTreeiENSGT00390000012929.
HOGENOMiHOG000057289.
HOVERGENiHBG055300.
InParanoidiQ96NT0.
OMAiEQGWFSI.
OrthoDBiEOG7SFJ0S.
PhylomeDBiQ96NT0.
TreeFamiTF324647.

Miscellaneous databases

GenomeRNAii84317.
NextBioi35472436.
PROiQ96NT0.
SOURCEiSearch...

Gene expression databases

BgeeiQ96NT0.
CleanExiHS_CCDC115.
ExpressionAtlasiQ96NT0. baseline and differential.
GenevisibleiQ96NT0. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Cerebellum and Substantia nigra.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Eye.
  4. "Expression of coiled-coil protein 1, a novel gene downstream of FGF2, in the developing brain."
    Pellicano F., Inglis-Broadgate S.L., Pante G., Ansorge W., Iwata T.
    Gene Expr. Patterns 6:285-293(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: SUBCELLULAR LOCATION, VARIANTS CDG2O TYR-11 AND SER-31, FUNCTION, INVOLVEMENT IN CDG2O.

Entry informationi

Entry nameiCC115_HUMAN
AccessioniPrimary (citable) accession number: Q96NT0
Secondary accession number(s): B4DJ47, Q9BR88
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: December 1, 2001
Last modified: May 11, 2016
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.