Property Summary

NCBI Gene PubMed Count 16
PubMed Score 100.55
PubTator Score 120.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.631 1.4e-06

Gene RIF (9)

PMID Text
24196372 The proband with congenital dyserythropoietic anemia Iota in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T.
23716552 The missense substitution in CDAN1, C15ORF41, encodes a novel restriction endonuclease in congenital dyserythropoietic anemia type I.
22407294 The authors propose that Codanin-1 acts as a negative regulator of Asf1 function in chromatin assembly.
21364188 A link between mutant codanin-1 and the aberrant localization of HP1 alpha is supported by the finding that codanin-1 can be coimmunoprecipitated by anti-HP1 alpha antibodies erythroblasts from patients with congenital dyserythropoietic anemia type 1.
19336738 Data suggest that codanin-1 is a cell cycle-regulated protein active in the S phase.
18575862 Congenital dyserythropoietic anemia I (CDA I) is a well-defined entity within the heterogeneous group of the CDAN1 family; here it is associated with mutations in a Chinese family.
18081704 This second case of retinal angioid streaks in CDA I reports a patient homozygous for the Arg1042Trp mutation in codanin-1.
16767397 codanin-1 may play a role in the development of the skeleton.
12434312 Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1

AA Sequence

MAAVLESLLREEVSVAAVVRWIARSTQGSEDNAGEAAALSSLRALRKEFVPFLLNFLREQSSRVLPQGPP      1 - 70
TPAKTPGASAALPGRPGGPPRGSRGARSQLFPPTEAQSTAAEAPLARRGGRRRGPGPARERGGRGLEEGV     71 - 140
SGESLPGAGGRRLRGSGSPSRPSLTLSDPPNLSNLEEFPPVGSVPPGPTGTKPSRRINPTPVSEERSLSK    141 - 210
PKTCFTSPPISCVPSSQPSALDTSPWGLGLPPGCRSLQEEREMLRKERSKQLQQSPTPTCPTPELGSPLP    211 - 280
SRTGSLTDEPADPARVSSRQRLELVALVYSSCIAENLVPNLFLELFFVFQLLTARRMVTAKDSDPELSPA    281 - 350
VLDSLESPLFQSIHDCVFFAVQVLECHFQVLSNLDKGTLKLLAENERLLCFSPALQGRLRAAYEGSVAKV    351 - 420
SLVMPPSTQAVSFQPETDNRANFSSDRAFHTFKKQRDVFYEVLREWEDHHEEPGWDFEKGLGSRIRAMMG    421 - 490
QLSAACSHSHFVRLFQKQLLQMCQSPGGAGGTVLGEAPDVLSMLGADKLGRLWRLQERLMAPQSSGGPCP    491 - 560
PPTFPGCQGFFRDFILSASSFQFNQHLMDSLSLKIQELNGLALPQHEPNDEDGESDVDWQGERKQFAVVL    561 - 630
LSLRLLAKFLGFVAFLPYRGPEPPPTGELQDSILALRSQVPPVLDVRTLLQRGLQARRAVLTVPWLVEFL    631 - 700
SFADHVVPLLEYYRDIFTLLLRLHRSLVLSQESEGKMCFLNKLLLLAVLGWLFQIPTVPEDLFFLEEGPS    701 - 770
YAFEVDTVAPEHGLDNAPVVDQQLLYTCCPYIGELRKLLASWVSGSSGRSGGFMRKITPTTTTSLGAQPS    771 - 840
QTSQGLQAQLAQAFFHNQPPSLRRTVEFVAERIGSNCVKHIKATLVADLVRQAESLLQEQLVTQGEEGGD    841 - 910
PAQLLEILCSQLCPHGAQALALGREFCQRKSPGAVRALLPEETPAAVLSSAENIAVGLATEKACAWLSAN    911 - 980
ITALIRREVKAAVSRTLRAQGPEPAARGERRGCSRACEHHAPLPSHLISEIKDVLSLAVGPRDPDEGVSP    981 - 1050
EHLEQLLGQLGQTLRCRQFLCPPAEQHLAKCSVELASLLVADQIPILGPPAQYRLERGQARRLLHMLLSL   1051 - 1120
WKEDFQGPVPLQLLLSPRNVGLLADTRPREWDLLLFLLRELVEKGLMGRMEIEACLGSLHQAQWPGDFAE   1121 - 1190
ELATLSNLFLAEPHLPEPQLRACELVQPNRGTVLAQS                                    1191 - 1227
//

Text Mined References (18)

PMID Year Title
24196372 2014 Congenital dyserythropoietic anemia in China: a case report from two families and a review.
23716552 2013 Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22407294 2012 Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21364188 2011 Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.
19336738 2009 Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle-regulated.
18575862 2008 Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.
18464913 2008 A genome-wide association study identifies protein quantitative trait loci (pQTLs).
18081704 2008 Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16767397 2006 Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12434312 2002 Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
8634422 1996 Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I.