Details for: CCDC47

Gene ID: 57003

Symbol: CCDC47

Ensembl ID: ENSG00000108588

Description: coiled-coil domain containing 47

Associated with

Other Information

Genular Protein ID: 3805082594

Symbol: CCD47_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q96A33 B2RAS8 D3DU20 Q96D00 Q96JZ7 Q9H3E4 Q9NRG3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 11 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 18 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 2 SAM 1 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25009997

Title: Contribution of calumin to embryogenesis through participation in the endoplasmic reticulum-associated degradation activity.

PubMed ID: 25009997

DOI: 10.1016/j.ydbio.2014.06.024

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 32814900

Title: An intramembrane chaperone complex facilitates membrane protein biogenesis.

PubMed ID: 32814900

DOI: 10.1038/s41586-020-2624-y

PubMed ID: 32820719

Title: An ER translocon for multi-pass membrane protein biogenesis.

PubMed ID: 32820719

DOI: 10.7554/elife.56889

PubMed ID: 36261522

Title: Substrate-driven assembly of a translocon for multipass membrane proteins.

PubMed ID: 36261522

DOI: 10.1038/s41586-022-05330-8

PubMed ID: 30401460

Title: Bi-allelic CCDC47 variants cause a disorder characterized by woolly hair, liver dysfunction, dysmorphic features, and global developmental delay.

PubMed ID: 30401460

DOI: 10.1016/j.ajhg.2018.09.014

Sequence Information:

  • Length: 483
  • Mass: 55874
  • Checksum: 2C77CB7359B6A857
  • Sequence:
    • MKAFHTFCVV LLVFGSVSEA KFDDFEDEED IVEYDDNDFA EFEDVMEDSV TESPQRVIIT 
EDDEDETTVE LEGQDENQEG DFEDADTQEG DTESEPYDDE EFEGYEDKPD TSSSKNKDPI 
TIVDVPAHLQ NSWESYYLEI LMVTGLLAYI MNYIIGKNKN SRLAQAWFNT HRELLESNFT 
LVGDDGTNKE ATSTGKLNQE NEHIYNLWCS GRVCCEGMLI QLRFLKRQDL LNVLARMMRP 
VSDQVQIKVT MNDEDMDTYV FAVGTRKALV RLQKEMQDLS EFCSDKPKSG AKYGLPDSLA 
ILSEMGEVTD GMMDTKMVHF LTHYADKIES VHFSDQFSGP KIMQEEGQPL KLPDTKRTLL 
FTFNVPGSGN TYPKDMEALL PLMNMVIYSI DKAKKFRLNR EGKQKADKNR ARVEENFLKL 
THVQRQEAAQ SRREEKKRAE KERIMNEEDP EKQRRLEEAA LRREQKKLEK KQMKMKQIKV 
KAM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.