UniProtKB - Q9D024 (CCD47_MOUSE)
Protein
Coiled-coil domain-containing protein 47
Gene
Ccdc47
Organism
Mus musculus (Mouse)
Status
Functioni
Involved in the regulation of calcium ion homeostasis in the endoplasmic reticulum (By similarity). Required for proper protein degradation via the ERAD pathway. Has an essential role in the maintenance of endoplasmic reticulum organization during embryogenesis (PubMed:25009997).By similarity1 Publication
GO - Molecular functioni
- calcium ion binding Source: MGI
GO - Biological processi
- calcium ion homeostasis Source: MGI
- endoplasmic reticulum calcium ion homeostasis Source: UniProtKB
- endoplasmic reticulum organization Source: MGI
- ERAD pathway Source: MGI
- ER overload response Source: MGI
- post-embryonic development Source: MGI
- ubiquitin-dependent ERAD pathway Source: MGI
Names & Taxonomyi
Protein namesi | Recommended name: Coiled-coil domain-containing protein 47Alternative name(s): Adipocyte-specific protein 4 Calumin1 Publication |
Gene namesi | Name:Ccdc47 Synonyms:Asp4 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:1914413, Ccdc47 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity
- Rough endoplasmic reticulum membrane 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: MGI
- rough endoplasmic reticulum Source: MGI
- rough endoplasmic reticulum membrane Source: UniProtKB-SubCell
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 136 – 156 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Disruption phenotypei
CCDC47 knockout leads to embryonic lethality at mid-gestation, between E10.5 and E11.5 days. Mutant embryos at days E8.5-E10.5 reveal several anomalies including vascular abnormalities in yolk sacs, developmental retardation, atrophic neural tubes, dilated left ventricles, poorly developed myocardium, and paucity of blood cells in the dorsal aorta. Yolk sac endoderm cells show alterations associated with endoplasmic reticulum stress, including lipid droplet accumulation, endoplasmic reticulum fragmentation and dissociation of ribosomes.1 Publication
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 20 | Sequence analysisAdd BLAST | 20 | |
ChainiPRO_0000235799 | 21 – 483 | Coiled-coil domain-containing protein 47Add BLAST | 463 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 178 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q9D024 |
jPOSTi | Q9D024 |
PaxDbi | Q9D024 |
PeptideAtlasi | Q9D024 |
PRIDEi | Q9D024 |
PTM databases
GlyGeni | Q9D024, 1 site |
iPTMneti | Q9D024 |
PhosphoSitePlusi | Q9D024 |
SwissPalmi | Q9D024 |
Expressioni
Tissue specificityi
In the embryo, expressed in the endodermal layer of the yolk sac and in the small intestine.1 Publication
Gene expression databases
Bgeei | ENSMUSG00000078622, Expressed in secondary oocyte and 295 other tissues |
ExpressionAtlasi | Q9D024, baseline and differential |
Genevisiblei | Q9D024, MM |
Interactioni
Subunit structurei
Interacts with VCP, HSPA5, DERL1, DERL2 and SELENOS.
1 PublicationProtein-protein interaction databases
BioGRIDi | 211988, 4 interactors |
IntActi | Q9D024, 3 interactors |
MINTi | Q9D024 |
STRINGi | 10090.ENSMUSP00000002043 |
Miscellaneous databases
RNActi | Q9D024, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 450 – 483 | Sequence analysisAdd BLAST | 34 |
Keywords - Domaini
Coiled coil, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2357, Eukaryota |
GeneTreei | ENSGT00390000013997 |
HOGENOMi | CLU_033196_1_0_1 |
InParanoidi | Q9D024 |
OMAi | PYTKWYR |
PhylomeDBi | Q9D024 |
TreeFami | TF314902 |
Family and domain databases
InterProi | View protein in InterPro IPR012879, DUF1682 |
PANTHERi | PTHR12883, PTHR12883, 1 hit |
Pfami | View protein in Pfam PF07946, DUF1682, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9D024-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKAFYAFCVV LLVFGSVSEA KFDDFEDEED IVEYDDNDFA EFEDVMEDSV
60 70 80 90 100
TESPQRVIST EDDEDEATVE LEGQDESQEG DFEDADTQEG DTESEPYDDE
110 120 130 140 150
EFEGYEDKPD TSSNKNKDPI TIVDVPAHLQ NSWESYYLEI LMVTGLLAYI
160 170 180 190 200
MNYIIGKNKN SRLAQAWFNS HRELLESNFT LVGDDGTNKE ATSTGKLNQE
210 220 230 240 250
NEHIYNLWCS GRVCCEGMLI QLRFLKRQDL LNVLARMMRP VSDQVQIKVT
260 270 280 290 300
MNDEDMDTYV FAVGTRKALL RLQKEMQDLS EFCSDKPKSG AKYGLPDSLA
310 320 330 340 350
ILSEMGEVTE GMMDTKMVHF LTHYADKIES VHFSDQFSGP KIMQEEGQPL
360 370 380 390 400
KLPDTKRTLL FTFNVPGSGN TYPKDMESLL PLMNMVIYSI DKAKKFRLNR
410 420 430 440 450
EGKQKADKNR ARVEENFLKL THVQRQEAAQ SRREEKKRAE KERIMNEEDP
460 470 480
EKQRRLEEAA LRREQKKLEK KQMKMKQIKV KAM
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB1AR93 | B1AR93_MOUSE | Coiled-coil domain-containing prote... | Ccdc47 | 138 | Annotation score: | ||
F7C265 | F7C265_MOUSE | Coiled-coil domain-containing prote... | Ccdc47 | 224 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 111 | T → A in BAB27896 (PubMed:16141072).Curated | 1 | |
Sequence conflicti | 111 | T → A in BAE36760 (PubMed:16141072).Curated | 1 | |
Sequence conflicti | 145 | G → S in BAC37406 (PubMed:16141072).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_018479 | 1 – 316 | Missing in isoform 3. 1 PublicationAdd BLAST | 316 | |
Alternative sequenceiVSP_018480 | 458 – 483 | EAALR…KVKAM → VRHSEARLLGSASLLCGFMF in isoform 2. 1 PublicationAdd BLAST | 26 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB040489 mRNA Translation: BAB68502.1 AK011882 mRNA Translation: BAB27896.1 AK078812 mRNA Translation: BAC37406.1 AK132273 mRNA Translation: BAE21073.1 AK162160 mRNA Translation: BAE36760.1 AL596331 Genomic DNA No translation available. |
CCDSi | CCDS25551.1 [Q9D024-1] |
RefSeqi | NP_080285.2, NM_026009.2 [Q9D024-1] |
Genome annotation databases
Ensembli | ENSMUST00000002043; ENSMUSP00000002043; ENSMUSG00000078622 [Q9D024-1] ENSMUST00000106865; ENSMUSP00000102478; ENSMUSG00000078622 [Q9D024-3] |
GeneIDi | 67163 |
KEGGi | mmu:67163 |
UCSCi | uc007lyi.1, mouse [Q9D024-1] uc007lyj.1, mouse [Q9D024-2] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB040489 mRNA Translation: BAB68502.1 AK011882 mRNA Translation: BAB27896.1 AK078812 mRNA Translation: BAC37406.1 AK132273 mRNA Translation: BAE21073.1 AK162160 mRNA Translation: BAE36760.1 AL596331 Genomic DNA No translation available. |
CCDSi | CCDS25551.1 [Q9D024-1] |
RefSeqi | NP_080285.2, NM_026009.2 [Q9D024-1] |
3D structure databases
SMRi | Q9D024 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 211988, 4 interactors |
IntActi | Q9D024, 3 interactors |
MINTi | Q9D024 |
STRINGi | 10090.ENSMUSP00000002043 |
PTM databases
GlyGeni | Q9D024, 1 site |
iPTMneti | Q9D024 |
PhosphoSitePlusi | Q9D024 |
SwissPalmi | Q9D024 |
Proteomic databases
EPDi | Q9D024 |
jPOSTi | Q9D024 |
PaxDbi | Q9D024 |
PeptideAtlasi | Q9D024 |
PRIDEi | Q9D024 |
Protocols and materials databases
Antibodypediai | 31338, 165 antibodies |
Genome annotation databases
Ensembli | ENSMUST00000002043; ENSMUSP00000002043; ENSMUSG00000078622 [Q9D024-1] ENSMUST00000106865; ENSMUSP00000102478; ENSMUSG00000078622 [Q9D024-3] |
GeneIDi | 67163 |
KEGGi | mmu:67163 |
UCSCi | uc007lyi.1, mouse [Q9D024-1] uc007lyj.1, mouse [Q9D024-2] |
Organism-specific databases
CTDi | 57003 |
MGIi | MGI:1914413, Ccdc47 |
Phylogenomic databases
eggNOGi | KOG2357, Eukaryota |
GeneTreei | ENSGT00390000013997 |
HOGENOMi | CLU_033196_1_0_1 |
InParanoidi | Q9D024 |
OMAi | PYTKWYR |
PhylomeDBi | Q9D024 |
TreeFami | TF314902 |
Miscellaneous databases
BioGRID-ORCSi | 67163, 5 hits in 18 CRISPR screens |
ChiTaRSi | Ccdc47, mouse |
PROi | PR:Q9D024 |
RNActi | Q9D024, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000078622, Expressed in secondary oocyte and 295 other tissues |
ExpressionAtlasi | Q9D024, baseline and differential |
Genevisiblei | Q9D024, MM |
Family and domain databases
InterProi | View protein in InterPro IPR012879, DUF1682 |
PANTHERi | PTHR12883, PTHR12883, 1 hit |
Pfami | View protein in Pfam PF07946, DUF1682, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CCD47_MOUSE | |
Accessioni | Q9D024Primary (citable) accession number: Q9D024 Secondary accession number(s): B1AR94 Q920S6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 16, 2006 |
Last sequence update: | May 16, 2006 | |
Last modified: | December 2, 2020 | |
This is version 122 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot