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UniProtKB - Q8IWY9 (CDAN1_HUMAN)

Protein

Codanin-1

Gene

CDAN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May act as a negative regulator of ASF1 in chromatin assembly.1 Publication

GO - Biological processi

  • chromatin assembly Source: UniProtKB
  • chromatin organization Source: MGI
  • negative regulation of DNA replication Source: UniProtKB
  • protein localization Source: MGI
View the complete GO annotation on QuickGO ...

Names & Taxonomyi

Protein namesi
Recommended name:
Codanin-1
Gene namesi
Name:CDAN1
ORF Names:UNQ664/PRO1295
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000140326.12
HGNCiHGNC:1713 CDAN1
MIMi607465 gene
neXtProtiNX_Q8IWY9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei312 – 332HelicalSequence analysisAdd BLAST21
Transmembranei626 – 646HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Anemia, congenital dyserythropoietic, 1A (CDAN1A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.
See also OMIM:224120
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017218599N → S in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074166EnsemblClinVar.1
Natural variantiVAR_017219672P → L in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074167EnsemblClinVar.1
Natural variantiVAR_017220698E → K in CDAN1A. 1 Publication1
Natural variantiVAR_017221714R → W in CDAN1A; partially disrupts ASF1 binding and loss the ability to arrest cells in S phase and inhibit DNA synthesis. 2 PublicationsCorresponds to variant dbSNP:rs80338696EnsemblClinVar.1
Natural variantiVAR_017222868F → I in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074168EnsemblClinVar.1
Natural variantiVAR_017223869V → M in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs370895637Ensembl.1
Natural variantiVAR_0172241042R → W in CDAN1A; partially disrupts ASF1 binding. 2 PublicationsCorresponds to variant dbSNP:rs80338697EnsemblClinVar.1
Natural variantiVAR_0172251043D → V in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs80338698EnsemblClinVar.1
Natural variantiVAR_0172261130P → L in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs80338699EnsemblClinVar.1

Keywords - Diseasei

Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi146059
GeneReviewsiCDAN1
MalaCardsiCDAN1
MIMi224120 phenotype
OpenTargetsiENSG00000140326
Orphaneti98869 Congenital dyserythropoietic anemia type I
PharmGKBiPA26249

Polymorphism and mutation databases

BioMutaiCDAN1
DMDMi296439465

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000894392 – 1227Codanin-1Add BLAST1226

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei71PhosphothreonineCombined sources1
Modified residuei265PhosphoserineCombined sources1
Modified residuei285PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8IWY9
PaxDbiQ8IWY9
PeptideAtlasiQ8IWY9
PRIDEiQ8IWY9
ProteomicsDBi70932
70933 [Q8IWY9-1]

PTM databases

iPTMnetiQ8IWY9
PhosphoSitePlusiQ8IWY9

Expressioni

Tissue specificityi

Ubiquitously expressed. Isoform 3 is not found in erythroid cells.1 Publication

Gene expression databases

BgeeiENSG00000140326 Expressed in 178 organ(s), highest expression level in left ovary
CleanExiHS_CDAN1
ExpressionAtlasiQ8IWY9 baseline and differential
GenevisibleiQ8IWY9 HS

Organism-specific databases

HPAiHPA039404
HPA040787

Interactioni

Subunit structurei

Found in a cytosolic complex with ASF1A, ASF1B, IPO4 and histones H3.1 and H4.1 Publication

Protein-protein interaction databases

BioGridi126963, 12 interactors
CORUMiQ8IWY9
DIPiDIP-24225N
IntActiQ8IWY9, 4 interactors
MINTiQ8IWY9
STRINGi9606.ENSP00000348564

Structurei

3D structure databases

ProteinModelPortaliQ8IWY9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni188 – 208Interaction with ASF1A/B1 PublicationAdd BLAST21

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGHV Eukaryota
ENOG410XXWY LUCA
GeneTreeiENSGT00390000000491
HOGENOMiHOG000111492
HOVERGENiHBG107631
InParanoidiQ8IWY9
KOiK19531
OMAiEQAFFHN
OrthoDBiEOG091G03X8
PhylomeDBiQ8IWY9
TreeFamiTF328405

Family and domain databases

InterProiView protein in InterPro
IPR040031 Codanin-1
IPR028171 Codanin-1_C
PANTHERiPTHR28678 PTHR28678, 1 hit
PfamiView protein in Pfam
PF15296 Codanin-1_C, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: Q8IWY9-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAVLESLLR EEVSVAAVVR WIARSTQGSE DNAGEAAALS SLRALRKEFV 
        60         70         80         90        100
PFLLNFLREQ SSRVLPQGPP TPAKTPGASA ALPGRPGGPP RGSRGARSQL 
       110        120        130        140        150
FPPTEAQSTA AEAPLARRGG RRRGPGPARE RGGRGLEEGV SGESLPGAGG 
       160        170        180        190        200
RRLRGSGSPS RPSLTLSDPP NLSNLEEFPP VGSVPPGPTG TKPSRRINPT 
       210        220        230        240        250
PVSEERSLSK PKTCFTSPPI SCVPSSQPSA LDTSPWGLGL PPGCRSLQEE 
       260        270        280        290        300
REMLRKERSK QLQQSPTPTC PTPELGSPLP SRTGSLTDEP ADPARVSSRQ 
       310        320        330        340        350
RLELVALVYS SCIAENLVPN LFLELFFVFQ LLTARRMVTA KDSDPELSPA 
       360        370        380        390        400
VLDSLESPLF QSIHDCVFFA VQVLECHFQV LSNLDKGTLK LLAENERLLC 
       410        420        430        440        450
FSPALQGRLR AAYEGSVAKV SLVMPPSTQA VSFQPETDNR ANFSSDRAFH 
       460        470        480        490        500
TFKKQRDVFY EVLREWEDHH EEPGWDFEKG LGSRIRAMMG QLSAACSHSH 
       510        520        530        540        550
FVRLFQKQLL QMCQSPGGAG GTVLGEAPDV LSMLGADKLG RLWRLQERLM 
       560        570        580        590        600
APQSSGGPCP PPTFPGCQGF FRDFILSASS FQFNQHLMDS LSLKIQELNG 
       610        620        630        640        650
LALPQHEPND EDGESDVDWQ GERKQFAVVL LSLRLLAKFL GFVAFLPYRG 
       660        670        680        690        700
PEPPPTGELQ DSILALRSQV PPVLDVRTLL QRGLQARRAV LTVPWLVEFL 
       710        720        730        740        750
SFADHVVPLL EYYRDIFTLL LRLHRSLVLS QESEGKMCFL NKLLLLAVLG 
       760        770        780        790        800
WLFQIPTVPE DLFFLEEGPS YAFEVDTVAP EHGLDNAPVV DQQLLYTCCP 
       810        820        830        840        850
YIGELRKLLA SWVSGSSGRS GGFMRKITPT TTTSLGAQPS QTSQGLQAQL 
       860        870        880        890        900
AQAFFHNQPP SLRRTVEFVA ERIGSNCVKH IKATLVADLV RQAESLLQEQ 
       910        920        930        940        950
LVTQGEEGGD PAQLLEILCS QLCPHGAQAL ALGREFCQRK SPGAVRALLP 
       960        970        980        990       1000
EETPAAVLSS AENIAVGLAT EKACAWLSAN ITALIRREVK AAVSRTLRAQ 
      1010       1020       1030       1040       1050
GPEPAARGER RGCSRACEHH APLPSHLISE IKDVLSLAVG PRDPDEGVSP 
      1060       1070       1080       1090       1100
EHLEQLLGQL GQTLRCRQFL CPPAEQHLAK CSVELASLLV ADQIPILGPP 
      1110       1120       1130       1140       1150
AQYRLERGQA RRLLHMLLSL WKEDFQGPVP LQLLLSPRNV GLLADTRPRE 
      1160       1170       1180       1190       1200
WDLLLFLLRE LVEKGLMGRM EIEACLGSLH QAQWPGDFAE ELATLSNLFL 
      1210       1220 
AEPHLPEPQL RACELVQPNR GTVLAQS
Length:1,227
Mass (Da):134,120
Last modified:May 18, 2010 - v4
Checksum:iE2BC04ACD669DF6F
GO
Isoform 1 (identifier: Q8IWY9-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     190-190: G → GETQLSCRRWVPRRLWGVSHSSSALRSGAPGCR
     226-258: Missing.

Show »
Length:1,226
Mass (Da):133,992
Checksum:i0674D569F19BCD52
GO
Isoform 3 (identifier: Q8IWY9-3)
Sequence is not available
Length:–
Mass (Da):–

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BM60H3BM60_HUMAN
Codanin-1
CDAN1
347Annotation score:
H3BPZ6H3BPZ6_HUMAN
Codanin-1
CDAN1
95Annotation score:
A0A2R8Y5C2A0A2R8Y5C2_HUMAN
Codanin-1
CDAN1
74Annotation score:

Sequence cautioni

The sequence AAH52568 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAO14994 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAQ88832 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti31 – 32DN → VT in AAO14994 (PubMed:12434312).Curated2
Sequence conflicti39L → V in AAO14994 (PubMed:12434312).Curated1
Sequence conflicti42 – 45LRAL → FGAW in AAO14994 (PubMed:12434312).Curated4
Sequence conflicti51 – 52PF → RS in AAO14994 (PubMed:12434312).Curated2
Sequence conflicti55N → T in AAO14994 (PubMed:12434312).Curated1
Sequence conflicti73A → P in AAO14994 (PubMed:12434312).Curated1
Sequence conflicti76P → R in AAO14994 (PubMed:12434312).Curated1
Sequence conflicti82L → C in AAO14994 (PubMed:12434312).Curated1
Sequence conflicti93S → T in AAO14994 (PubMed:12434312).Curated1
Sequence conflicti380V → F in AAO14994 (PubMed:12434312).Curated1
Sequence conflicti421S → F in AAH52568 (PubMed:15489334).Curated1
Sequence conflicti421S → F in AAH66640 (PubMed:15489334).Curated1
Sequence conflicti669Q → P in AAQ88832 (PubMed:12975309).Curated1
Sequence conflicti726S → C in AAO14994 (PubMed:12434312).Curated1
Sequence conflicti946R → W in AAH01092 (PubMed:15489334).Curated1
Sequence conflicti946R → W in AAH08333 (PubMed:15489334).Curated1
Sequence conflicti946R → W in AAH08334 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059602107Q → L. Corresponds to variant dbSNP:rs4265781EnsemblClinVar.1
Natural variantiVAR_056785596Q → R. Corresponds to variant dbSNP:rs12917189EnsemblClinVar.1
Natural variantiVAR_017218599N → S in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074166EnsemblClinVar.1
Natural variantiVAR_017219672P → L in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074167EnsemblClinVar.1
Natural variantiVAR_017220698E → K in CDAN1A. 1 Publication1
Natural variantiVAR_017221714R → W in CDAN1A; partially disrupts ASF1 binding and loss the ability to arrest cells in S phase and inhibit DNA synthesis. 2 PublicationsCorresponds to variant dbSNP:rs80338696EnsemblClinVar.1
Natural variantiVAR_017222868F → I in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074168EnsemblClinVar.1
Natural variantiVAR_017223869V → M in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs370895637Ensembl.1
Natural variantiVAR_056786891R → C. Corresponds to variant dbSNP:rs8023524EnsemblClinVar.1
Natural variantiVAR_0172241042R → W in CDAN1A; partially disrupts ASF1 binding. 2 PublicationsCorresponds to variant dbSNP:rs80338697EnsemblClinVar.1
Natural variantiVAR_0172251043D → V in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs80338698EnsemblClinVar.1
Natural variantiVAR_0172261130P → L in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs80338699EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027097190G → GETQLSCRRWVPRRLWGVSH SSSALRSGAPGCR in isoform 1. 1 Publication1
Alternative sequenceiVSP_027098226 – 258Missing in isoform 1. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF525398 mRNA Translation: AAO14994.1 Different initiation.
AC090510 Genomic DNA No translation available.
BC001092 mRNA Translation: AAH01092.1
BC008333 mRNA Translation: AAH08333.1
BC008334 mRNA Translation: AAH08334.1
BC052568 mRNA Translation: AAH52568.1 Different initiation.
BC066640 mRNA Translation: AAH66640.1
AY358467 mRNA Translation: AAQ88832.1 Different initiation.
CCDSiCCDS32209.1 [Q8IWY9-2]
RefSeqiNP_612486.2, NM_138477.2 [Q8IWY9-2]
UniGeneiHs.599232

Genome annotation databases

EnsembliENST00000356231; ENSP00000348564; ENSG00000140326 [Q8IWY9-2]
GeneIDi146059
KEGGihsa:146059
UCSCiuc001zql.4 human [Q8IWY9-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF525398 mRNA Translation: AAO14994.1 Different initiation.
AC090510 Genomic DNA No translation available.
BC001092 mRNA Translation: AAH01092.1
BC008333 mRNA Translation: AAH08333.1
BC008334 mRNA Translation: AAH08334.1
BC052568 mRNA Translation: AAH52568.1 Different initiation.
BC066640 mRNA Translation: AAH66640.1
AY358467 mRNA Translation: AAQ88832.1 Different initiation.
CCDSiCCDS32209.1 [Q8IWY9-2]
RefSeqiNP_612486.2, NM_138477.2 [Q8IWY9-2]
UniGeneiHs.599232

3D structure databases

ProteinModelPortaliQ8IWY9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126963, 12 interactors
CORUMiQ8IWY9
DIPiDIP-24225N
IntActiQ8IWY9, 4 interactors
MINTiQ8IWY9
STRINGi9606.ENSP00000348564

PTM databases

iPTMnetiQ8IWY9
PhosphoSitePlusiQ8IWY9

Polymorphism and mutation databases

BioMutaiCDAN1
DMDMi296439465

Proteomic databases

EPDiQ8IWY9
PaxDbiQ8IWY9
PeptideAtlasiQ8IWY9
PRIDEiQ8IWY9
ProteomicsDBi70932
70933 [Q8IWY9-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356231; ENSP00000348564; ENSG00000140326 [Q8IWY9-2]
GeneIDi146059
KEGGihsa:146059
UCSCiuc001zql.4 human [Q8IWY9-2]

Organism-specific databases

CTDi146059
DisGeNETi146059
EuPathDBiHostDB:ENSG00000140326.12
GeneCardsiCDAN1
GeneReviewsiCDAN1
H-InvDBiHIX0202162
HGNCiHGNC:1713 CDAN1
HPAiHPA039404
HPA040787
MalaCardsiCDAN1
MIMi224120 phenotype
607465 gene
neXtProtiNX_Q8IWY9
OpenTargetsiENSG00000140326
Orphaneti98869 Congenital dyserythropoietic anemia type I
PharmGKBiPA26249
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGHV Eukaryota
ENOG410XXWY LUCA
GeneTreeiENSGT00390000000491
HOGENOMiHOG000111492
HOVERGENiHBG107631
InParanoidiQ8IWY9
KOiK19531
OMAiEQAFFHN
OrthoDBiEOG091G03X8
PhylomeDBiQ8IWY9
TreeFamiTF328405

Miscellaneous databases

ChiTaRSiCDAN1 human
GenomeRNAii146059
PROiPR:Q8IWY9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140326 Expressed in 178 organ(s), highest expression level in left ovary
CleanExiHS_CDAN1
ExpressionAtlasiQ8IWY9 baseline and differential
GenevisibleiQ8IWY9 HS

Family and domain databases

InterProiView protein in InterPro
IPR040031 Codanin-1
IPR028171 Codanin-1_C
PANTHERiPTHR28678 PTHR28678, 1 hit
PfamiView protein in Pfam
PF15296 Codanin-1_C, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCDAN1_HUMAN
AccessioniPrimary (citable) accession number: Q8IWY9
Secondary accession number(s): Q6NYD0, Q7Z7L5, Q969N3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 131 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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