Details for: CCDC40
Associated with
Other Information
Genular Protein ID: 2301546034
Symbol: CCD40_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10997877
Title: Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10997877
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16625196
Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
PubMed ID: 16625196
DOI: 10.1038/nature04689
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: 21131974
Title: The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
PubMed ID: 21131974
DOI: 10.1038/ng.727
PubMed ID: 22693285
Title: Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
PubMed ID: 22693285
PubMed ID: 23255504
Title: Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
PubMed ID: 23255504
DOI: 10.1002/humu.22261
PubMed ID: 23402890
Title: Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.
PubMed ID: 23402890
PubMed ID: 25186273
Title: Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
PubMed ID: 25186273
PubMed ID: 27120127
Title: Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex subunit, cause primary ciliary dyskinesia with axonemal disorganization.
PubMed ID: 27120127
DOI: 10.1002/humu.23005
Sequence Information:
- Length: 1142
- Mass: 130113
- Checksum: B18A5808B0BEC212
- Sequence:
MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST EHPEEVTTQA EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET SSPEGQISAA DTTYPYFSPP QELPGEEAYD SVSGEAGLQG FQQEATGPPE SRERRVTSPE PSHGVLGPSE QMGQVTSGPA VGRLTGSTEE PQGQVLPMGV QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD LPVFQDQIQQ PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD RHAMASSERR QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH LFYMQNIDQD MRDDIRVMTQ VVKKAETERI RAEIEKKKQD LYVDQLTTRA QQLEEDIALF EAQYLAQAED TRILRKAVSE ACTEIDAISV EKRRIMQQWA SSLVGMKHRD EAHRAVLEAL RGCQHQAKST DGEIEAYKKS IMKEEEKNEK LASILNRTET EATLLQKLTT QCLTKQVALQ SQFNTYRLTL QDTEDALSQD QLEQMILTEE LQAIRQAIQG ELELRRKTDA AIREKLQEHM TSNKTTKYFN QLILRLQKEK TNMMTHLSKI NGDIAQTTLD ITHTSSRLDA HQKTLVELDQ DVKKVNELIT NSQSEISRRT ILIERKQGLI NFLNKQLERM VSELGGEEVG PLELEIKRLS KLIDEHDGKA VQAQVTWLRL QQEMVKVTQE QEEQLASLDA SKKELHIMEQ KKLRVESKIE QEKKEQKEIE HHMKDLDNDL KKLNMLMNKN RCSSEELEQN NRVTENEFVR SLKASERETI KMQDKLNQLS EEKATLLNQL VEAEHQIMLW EKKIQLAKEM RSSVDSEIGQ TEIRAMKGEI HRMKVRLGQL LKQQEKMIRA MELAVARRET VTTQAEGQRK MDRKALTRTD FHHKQLELRR KIRDVRKATD ECTKTVLELE ETQRNVSSSL LEKQEKLSVI QADFDTLEAD LTRLGALKRQ NLSEIVALQT RLKHLQAVKE GRYVFLFRSK QSLVLERQRL DKRLALIATI LDRVRDEYPQ FQEALHKVSQ MIANKLESPG PS
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.