Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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146059 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Codanin 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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CDAN1 |
SynonymsGene synonyms aliases
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CDA1, CDAI, CDAN1A, DLT, PRO1295 |
ChromosomeChromosome number
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15 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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15q15.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
rs120074166 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs120074167 |
G>A |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs120074168 |
A>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
rs120074169 |
AAC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, inframe deletion |
rs138334226 |
G>A,C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs140334403 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
rs769679860 |
->A |
Pathogenic |
Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant |
rs1223300626 |
->AA |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
rs1336651679 |
A>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs1555414654 |
->GGC |
Likely-pathogenic |
Splice donor variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Transcription factor |
Regulation |
Reference |
E2F1 |
Unknown |
19336738 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
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 |
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Sequence |
MAAVLESLLREEVSVAAVVRWIARSTQGSEDNAGEAAALSSLRALRKEFVPFLLNFLREQ SSRVLPQGPPTPAKTPGASAALPGRPGGPPRGSRGARSQLFPPTEAQSTAAEAPLARRGG RRRGPGPARERGGRGLEEGVSGESLPGAGGRRLRGSGSPSRPSLTLSDPPNLSNLEEFPP VGSVPPGPTGTKPSRRINPTPVSEERSLSKPKTCFTSPPISCVPSSQPSALDTSPWGLGL PPGCRSLQEEREMLRKERSKQLQQSPTPTCPTPELGSPLPSRTGSLTDEPADPARVSSRQ RLELVALVYSSCIAENLVPNLFLELFFVFQLLTARRMVTAKDSDPELSPAVLDSLESPLF QSIHDCVFFAVQVLECHFQVLSNLDKGTLKLLAENERLLCFSPALQGRLRAAYEGSVAKV SLVMPPSTQAVSFQPETDNRANFSSDRAFHTFKKQRDVFYEVLREWEDHHEEPGWDFEKG LGSRIRAMMGQLSAACSHSHFVRLFQKQLLQMCQSPGGAGGTVLGEAPDVLSMLGADKLG RLWRLQERLMAPQSSGGPCPPPTFPGCQGFFRDFILSASSFQFNQHLMDSLSLKIQELNG LALPQHEPNDEDGESDVDWQGERKQFAVVLLSLRLLAKFLGFVAFLPYRGPEPPPTGELQ DSILALRSQVPPVLDVRTLLQRGLQARRAVLTVPWLVEFLSFADHVVPLLEYYRDIFTLL LRLHRSLVLSQESEGKMCFLNKLLLLAVLGWLFQIPTVPEDLFFLEEGPSYAFEVDTVAP EHGLDNAPVVDQQLLYTCCPYIGELRKLLASWVSGSSGRSGGFMRKITPTTTTSLGAQPS QTSQGLQAQLAQAFFHNQPPSLRRTVEFVAERIGSNCVKHIKATLVADLVRQAESLLQEQ LVTQGEEGGDPAQLLEILCSQLCPHGAQALALGREFCQRKSPGAVRALLPEETPAAVLSS AENIAVGLATEKACAWLSANITALIRREVKAAVSRTLRAQGPEPAARGERRGCSRACEHH APLPSHLISEIKDVLSLAVGPRDPDEGVSPEHLEQLLGQLGQTLRCRQFLCPPAEQHLAK CSVELASLLVADQIPILGPPAQYRLERGQARRLLHMLLSLWKEDFQGPVPLQLLLSPRNV GLLADTRPREWDLLLFLLRELVEKGLMGRMEIEACLGSLHQAQWPGDFAEELATLSNLFL AEPHLPEPQLRACELVQPNRGTVLAQS
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Sequence length |
1227 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Anemia |
Congenital dyserythropoietic anemia, type III |
rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 |
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Congenital dyserythropoietic anemia |
Congenital dyserythropoietic anemia, Congenital dyserythropoietic anemia, type I, Congenital dyserythropoietic anemia, type II, Congenital dyserythropoietic anemia type I |
rs121918221, rs121918222, rs121918224, rs121918225, rs121918226, rs80338697, rs80338699, rs120074166, rs120074167, rs120074168, rs120074169, rs80338694, rs80338696, rs398124225, rs398124226, rs199939108, rs727504145, rs1555788144, rs138334226, rs1403456625, rs1600244935, rs140334403, rs1600288964 |
12434312, 18575862, 29599085, 29901818, 16754775, 22407294, 16141353 |
Hydrops fetalis |
Hydrops Fetalis |
rs28935477, rs1131691986 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Bipolar disorder |
Bipolar Disorder |
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31043756 |
Erythroid hyperplasia |
Erythroid hyperplasia |
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Macrocytic anemia |
Macrocytic dyserythropoietic anemia |
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