Gene Gene information from NCBI Gene database.
Entrez ID 146059
Gene name Codanin 1
Gene symbol CDAN1
Synonyms (NCBI Gene)
CDA1CDAICDAN1ADLTPRO1295
Chromosome 15
Chromosome location 15q15.2
Summary This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functiona
SNPs SNP information provided by dbSNP.
15
SNP ID Visualize variation Clinical significance Consequence
rs80338694 G>A,C Likely-pathogenic, pathogenic Coding sequence variant, upstream transcript variant, missense variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs80338696 G>A Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs80338697 G>A,C,T Pathogenic Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs80338699 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs113313967 C>T Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
159
miRTarBase ID miRNA Experiments Reference
MIRT047385 hsa-miR-34a-5p CLASH 23622248
MIRT037638 hsa-miR-744-5p CLASH 23622248
MIRT876699 hsa-miR-106a CLIP-seq
MIRT876700 hsa-miR-106b CLIP-seq
MIRT876701 hsa-miR-1200 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
E2F1 Unknown 19336738
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22407294
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 21364188, 22407294
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 22407294
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607465 1713 ENSG00000140326
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWY9
Protein name Codanin-1
Protein function May act as a negative regulator of ASF1 in chromatin assembly.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15296 Codanin-1_C 784 899 Codanin-1 C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 3 is not found in erythroid cells. {ECO:0000269|PubMed:12434312}.
Sequence
MAAVLESLLREEVSVAAVVRWIARSTQGSEDNAGEAAALSSLRALRKEFVPFLLNFLREQ
SSRVLPQGPPTPAKTPGASAALPGRPGGPPRGSRGARSQLFPPTEAQSTAAEAPLARRGG
RRRGPGPARERGGRGLEEGVSGESLPGAGGRRLRGSGSPSRPSLTLSDPPNLSNLEEFPP
VGSVPPGPTGTKPSRRINPTPVSEERSLSKPKTCFTSPPISCVPSSQPSALDTSPWGLGL
PPGCRSLQEEREMLRKERSKQLQQSPTPTCPTPELGSPLPSRTGSLTDEPADPARVSSRQ
RLELVALVYSSCIAENLVPNLFLELFFVFQLLTARRMVTAKDSDPELSPAVLDSLESPLF
QSIHDCVFFAVQVLECHFQVLSNLDKGTLKLLAENERLLCFSPALQGRLRAAYEGSVAKV
SLVMPPSTQAVSFQPETDNRANFSSDRAFHTFKKQRDVFYEVLREWEDHHEEPGWDFEKG
LGSRIRAMMGQLSAACSHSHFVRLFQKQLLQMCQSPGGAGGTVLGEAPDVLSMLGADKLG
RLWRLQERLMAPQSSGGPCPPPTFPGCQGFFRDFILSASSFQFNQHLMDSLSLKIQELNG
LALPQHEPNDEDGESDVDWQGERKQFAVVLLSLRLLAKFLGFVAFLPYRGPEPPPTGELQ
DSILALRSQVPPVLDVRTLLQRGLQARRAVLTVPWLVEFLSFADHVVPLLEYYRDIFTLL
LRLHRSLVLSQESEGKMCFLNKLLLLAVLGWLFQIPTVPEDLFFLEEGPSYAFEVDTVAP
EHGLDNAPVVDQQLLYTCCPYIGELRKLLASWVSGSSGRSGGFMRKITPTTTTSLGAQPS
QTSQGLQAQLAQAFFHNQPPSLRRTVEFVAERIGSNCVKHIKATLVADLVRQAESLLQE
Q
LVTQGEEGGDPAQLLEILCSQLCPHGAQALALGREFCQRKSPGAVRALLPEETPAAVLSS
AENIAVGLATEKACAWLSANITALIRREVKAAVSRTLRAQGPEPAARGERRGCSRACEHH
APLPSHLISEIKDVLSLAVGPRDPDEGVSPEHLEQLLGQLGQTLRCRQFLCPPAEQHLAK
CSVELASLLVADQIPILGPPAQYRLERGQARRLLHMLLSLWKEDFQGPVPLQLLLSPRNV
GLLADTRPREWDLLLFLLRELVEKGLMGRMEIEACLGSLHQAQWPGDFAEELATLSNLFL
AEPHLPEPQLRACELVQPNRGTVLAQS
Sequence length 1227
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
493
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anemia, congenital dyserythropoietic, type 1a Pathogenic; Likely pathogenic rs375339408, rs778822407, rs2140471687, rs2140505826, rs2506101144, rs80338697, rs80338699, rs120074166, rs120074167, rs2506131342, rs2506067560, rs778173860, rs2506137543, rs2506092231, rs1383200463
View all (3 more)
RCV005009585
RCV003764481
RCV001780464
RCV001780465
RCV002280806
RCV001544511
RCV001839408
RCV005007811
RCV002466391
RCV003141256
RCV003335886
RCV003337798
RCV003493225
RCV003493226
RCV003764482
RCV001807737
RCV004795934
RCV001839414
CDAN1-related disorder Likely pathogenic; Pathogenic rs80338694 RCV004755746
Congenital dyserythropoietic anemia, type I Likely pathogenic; Pathogenic rs80338697, rs80338699, rs120074166, rs120074167, rs120074168, rs120074169, rs80338694, rs80338696, rs140334403 RCV000020956
RCV000020959
RCV000003328
RCV000020953
RCV000003330
RCV000003332
RCV004700262
RCV000020954
RCV000995713
Uterine corpus endometrial carcinoma Pathogenic rs145148854 RCV005927014
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance; Conflicting classifications of pathogenicity; Benign rs201401533, rs200767055, rs114208791 RCV005934749
RCV005893362
RCV005893364
Adrenocortical carcinoma, hereditary Benign; Likely benign rs147500837 RCV005893370
Cervical cancer Benign; Uncertain significance rs16957109, rs113313967 RCV005915554
RCV005887240
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity; Benign; Likely benign rs200767055, rs147500837 RCV005893363
RCV005893371
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 22407294
Anemia Associate 33401150
Anemia Diamond Blackfan Associate 12434312
Anemia Dyserythropoietic Congenital Associate 12434312, 16098079, 16141353, 19336738, 22407294, 22504250, 23716552, 29599085, 32160409, 32239177, 32293259, 32518175, 33075436, 33121234, 33401150
Anemia Dyserythropoietic Congenital Stimulate 9345103
Anemia Hemolytic Associate 33401150
Anemia Macrocytic Associate 29599085
Bone Diseases Associate 16098079
Corneal dystrophy Avellino type Associate 33401150
Gallstones Associate 16141353