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Entry version 114 (13 Feb 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Coiled-coil domain-containing protein 115

Gene

CCDC115

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe2+ prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833332).2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • unfolded protein binding Source: GO_Central

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Coiled-coil domain-containing protein 1151 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CCDC1151 PublicationImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000136710.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28178 CCDC115

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613734 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96NT0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Lysosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07575211D → Y in CDG2O. 1 PublicationCorresponds to variant dbSNP:rs869025583EnsemblClinVar.1
Natural variantiVAR_07575331L → S in CDG2O. 1 PublicationCorresponds to variant dbSNP:rs751325113EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
84317

MalaCards human disease database

More...
MalaCardsi
CCDC115
MIMi616828 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000136710

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
468684 CCDC115-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145149287

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CCDC115

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74732634

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002794031 – 180Coiled-coil domain-containing protein 115Add BLAST180

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96NT0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96NT0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96NT0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96NT0

PeptideAtlas

More...
PeptideAtlasi
Q96NT0

PRoteomics IDEntifications database

More...
PRIDEi
Q96NT0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
77553

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q96NT0-1 [Q96NT0-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96NT0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96NT0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed throughout the brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000136710 Expressed in 204 organ(s), highest expression level in layer of synovial tissue

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96NT0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96NT0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA034598

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Accessory component of the multisubunit proton-transporting vacuolar (V)-ATPase protein pump.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124043, 33 interactors

Protein interaction database and analysis system

More...
IntActi
Q96NT0, 24 interactors

Molecular INTeraction database

More...
MINTi
Q96NT0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000259229

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q96NT0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili16 – 37Sequence analysisAdd BLAST22
Coiled coili153 – 176Sequence analysisAdd BLAST24

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410J11Y Eukaryota
ENOG410Y0F4 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000012929

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000057289

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG055300

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96NT0

Identification of Orthologs from Complete Genome Data

More...
OMAi
YTSEAQD

Database of Orthologous Groups

More...
OrthoDBi
1605528at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96NT0

TreeFam database of animal gene trees

More...
TreeFami
TF324647

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR040357 Vma22/CCDC115

The PANTHER Classification System

More...
PANTHERi
PTHR31996 PTHR31996, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B8ZZ99B8ZZ99_HUMAN
Coiled-coil domain-containing prote...
CCDC115 MGC12981, hCG_39080
175Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WCZ3F8WCZ3_HUMAN
Coiled-coil domain-containing prote...
CCDC115
193Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07575211D → Y in CDG2O. 1 PublicationCorresponds to variant dbSNP:rs869025583EnsemblClinVar.1
Natural variantiVAR_07575331L → S in CDG2O. 1 PublicationCorresponds to variant dbSNP:rs751325113EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0561151 – 36MAALD…NARVE → MGTPLDGGSRVPIGCPAKLR RVTRKKVAPDL in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_056116145 – 180LQLAA…EPGAA → VLEAKKRKCFLERVIQCVVS PAAEQEAEDESCPEDWAAAV PAETSAKAI in isoform 2. 1 PublicationAdd BLAST36

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK054693 mRNA Translation: BAB70794.1
AK295922 mRNA Translation: BAG58709.1
AC132479 Genomic DNA Translation: AAY24075.1
BC006429 mRNA Translation: AAH06429.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2159.1 [Q96NT0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001308047.1, NM_001321118.1
NP_001308048.1, NM_001321119.1
NP_115733.2, NM_032357.3 [Q96NT0-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.104203
Hs.601991

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000259229; ENSP00000259229; ENSG00000136710 [Q96NT0-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
84317

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84317

UCSC genome browser

More...
UCSCi
uc002tqy.3 human [Q96NT0-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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_001308047.1, NM_001321118.1
NP_001308048.1, NM_001321119.1
NP_115733.2, NM_032357.3 [Q96NT0-1]
UniGeneiHs.104203
Hs.601991

3D structure databases

ProteinModelPortaliQ96NT0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124043, 33 interactors
IntActiQ96NT0, 24 interactors
MINTiQ96NT0
STRINGi9606.ENSP00000259229

PTM databases

iPTMnetiQ96NT0
PhosphoSitePlusiQ96NT0

Polymorphism and mutation databases

BioMutaiCCDC115
DMDMi74732634

Proteomic databases

EPDiQ96NT0
jPOSTiQ96NT0
MaxQBiQ96NT0
PaxDbiQ96NT0
PeptideAtlasiQ96NT0
PRIDEiQ96NT0
ProteomicsDBi77553
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

Comparative Toxicogenomics Database

More...
CTDi
84317
DisGeNETi84317
EuPathDBiHostDB:ENSG00000136710.9

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CCDC115

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0200289
HGNCiHGNC:28178 CCDC115
HPAiHPA034598
MalaCardsiCCDC115
MIMi613734 gene
616828 phenotype
neXtProtiNX_Q96NT0
OpenTargetsiENSG00000136710
Orphaneti468684 CCDC115-CDG
PharmGKBiPA145149287

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410J11Y Eukaryota
ENOG410Y0F4 LUCA
GeneTreeiENSGT00390000012929
HOGENOMiHOG000057289
HOVERGENiHBG055300
InParanoidiQ96NT0
OMAiYTSEAQD
OrthoDBi1605528at2759
PhylomeDBiQ96NT0
TreeFamiTF324647

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
84317

Protein Ontology

More...
PROi
PR:Q96NT0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136710 Expressed in 204 organ(s), highest expression level in layer of synovial tissue
ExpressionAtlasiQ96NT0 baseline and differential
GenevisibleiQ96NT0 HS

Family and domain databases

InterProiView protein in InterPro
IPR040357 Vma22/CCDC115
PANTHERiPTHR31996 PTHR31996, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCC115_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96NT0
Secondary accession number(s): B4DJ47, Q9BR88
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: December 1, 2001
Last modified: February 13, 2019
This is version 114 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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