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Q8IWY9 (CDAN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Codanin-1
Gene names
Name:CDAN1
ORF Names:UNQ664/PRO1295
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1227 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May acts as a negative regulator of ASF1 in chromatin assembly. Ref.6

Subunit structure

Found in a cytosolic complex with ASF1A, ASF1B, IPO4 and histones H3.1 and H4. Ref.6

Subcellular location

Cytoplasm. Nucleus. Membrane; Multi-pass membrane protein Potential. Note: Mainly detected as a cytoplasmic protein. Ref.5 Ref.6

Tissue specificity

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

Involvement in disease

Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Sequence caution

The sequence AAH52568.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence AAO14994.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence AAQ88832.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 2 (identifier: Q8IWY9-2)

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.
Isoform 1 (identifier: Q8IWY9-1)

The sequence of this isoform differs from the canonical sequence as follows:
     190-190: G → GETQLSCRRWVPRRLWGVSHSSSALRSGAPGCR
     226-258: Missing.
Isoform 3 (identifier: Q8IWY9-3)

The sequence of this isoform is not available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.7
Chain2 – 12271226Codanin-1
PRO_0000089439

Regions

Transmembrane312 – 33221Helical; Potential
Transmembrane626 – 64621Helical; Potential
Region188 – 20821Interaction with ASF1A/B

Amino acid modifications

Modified residue21N-acetylalanine Ref.7

Natural variations

Alternative sequence1901G → GETQLSCRRWVPRRLWGVSH SSSALRSGAPGCR in isoform 1.
VSP_027097
Alternative sequence226 – 25833Missing in isoform 1.
VSP_027098
Natural variant1071Q → L.
Corresponds to variant rs4265781 [ dbSNP | Ensembl ].
VAR_059602
Natural variant5961Q → R.
Corresponds to variant rs12917189 [ dbSNP | Ensembl ].
VAR_056785
Natural variant5991N → S in CDAN1A. Ref.1
VAR_017218
Natural variant6721P → L in CDAN1A. Ref.1
VAR_017219
Natural variant6981E → K in CDAN1A. Ref.1
VAR_017220
Natural variant7141R → W in CDAN1A; partially disrupts ASF1 binding and loss the ability to arrest cells in S phase and inhibit DNA synthesis. Ref.1 Ref.6
Corresponds to variant rs80338696 [ dbSNP | Ensembl ].
VAR_017221
Natural variant8681F → I in CDAN1A. Ref.1
VAR_017222
Natural variant8691V → M in CDAN1A. Ref.1
VAR_017223
Natural variant8911R → C.
Corresponds to variant rs8023524 [ dbSNP | Ensembl ].
VAR_056786
Natural variant10421R → W in CDAN1A; partially disrupts ASF1 binding. Ref.1 Ref.6
VAR_017224
Natural variant10431D → V in CDAN1A. Ref.1
VAR_017225
Natural variant11301P → L in CDAN1A. Ref.1
VAR_017226

Experimental info

Sequence conflict31 – 322DN → VT in AAO14994. Ref.1
Sequence conflict391L → V in AAO14994. Ref.1
Sequence conflict42 – 454LRAL → FGAW in AAO14994. Ref.1
Sequence conflict51 – 522PF → RS in AAO14994. Ref.1
Sequence conflict551N → T in AAO14994. Ref.1
Sequence conflict731A → P in AAO14994. Ref.1
Sequence conflict761P → R in AAO14994. Ref.1
Sequence conflict821L → C in AAO14994. Ref.1
Sequence conflict931S → T in AAO14994. Ref.1
Sequence conflict3801V → F in AAO14994. Ref.1
Sequence conflict4211S → F in AAH52568. Ref.3
Sequence conflict4211S → F in AAH66640. Ref.3
Sequence conflict6691Q → P in AAQ88832. Ref.4
Sequence conflict7261S → C in AAO14994. Ref.1
Sequence conflict9461R → W in AAH01092. Ref.3
Sequence conflict9461R → W in AAH08333. Ref.3
Sequence conflict9461R → W in AAH08334. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 2 [UniParc].

Last modified May 18, 2010. Version 4.
Checksum: E2BC04ACD669DF6F

FASTA1,227134,120
        10         20         30         40         50         60 
MAAVLESLLR EEVSVAAVVR WIARSTQGSE DNAGEAAALS SLRALRKEFV PFLLNFLREQ 

        70         80         90        100        110        120 
SSRVLPQGPP TPAKTPGASA ALPGRPGGPP RGSRGARSQL FPPTEAQSTA AEAPLARRGG 

       130        140        150        160        170        180 
RRRGPGPARE RGGRGLEEGV SGESLPGAGG RRLRGSGSPS RPSLTLSDPP NLSNLEEFPP 

       190        200        210        220        230        240 
VGSVPPGPTG TKPSRRINPT PVSEERSLSK PKTCFTSPPI SCVPSSQPSA LDTSPWGLGL 

       250        260        270        280        290        300 
PPGCRSLQEE REMLRKERSK QLQQSPTPTC PTPELGSPLP SRTGSLTDEP ADPARVSSRQ 

       310        320        330        340        350        360 
RLELVALVYS SCIAENLVPN LFLELFFVFQ LLTARRMVTA KDSDPELSPA VLDSLESPLF 

       370        380        390        400        410        420 
QSIHDCVFFA VQVLECHFQV LSNLDKGTLK LLAENERLLC FSPALQGRLR AAYEGSVAKV 

       430        440        450        460        470        480 
SLVMPPSTQA VSFQPETDNR ANFSSDRAFH TFKKQRDVFY EVLREWEDHH EEPGWDFEKG 

       490        500        510        520        530        540 
LGSRIRAMMG QLSAACSHSH FVRLFQKQLL QMCQSPGGAG GTVLGEAPDV LSMLGADKLG 

       550        560        570        580        590        600 
RLWRLQERLM APQSSGGPCP PPTFPGCQGF FRDFILSASS FQFNQHLMDS LSLKIQELNG 

       610        620        630        640        650        660 
LALPQHEPND EDGESDVDWQ GERKQFAVVL LSLRLLAKFL GFVAFLPYRG PEPPPTGELQ 

       670        680        690        700        710        720 
DSILALRSQV PPVLDVRTLL QRGLQARRAV LTVPWLVEFL SFADHVVPLL EYYRDIFTLL 

       730        740        750        760        770        780 
LRLHRSLVLS QESEGKMCFL NKLLLLAVLG WLFQIPTVPE DLFFLEEGPS YAFEVDTVAP 

       790        800        810        820        830        840 
EHGLDNAPVV DQQLLYTCCP YIGELRKLLA SWVSGSSGRS GGFMRKITPT TTTSLGAQPS 

       850        860        870        880        890        900 
QTSQGLQAQL AQAFFHNQPP SLRRTVEFVA ERIGSNCVKH IKATLVADLV RQAESLLQEQ 

       910        920        930        940        950        960 
LVTQGEEGGD PAQLLEILCS QLCPHGAQAL ALGREFCQRK SPGAVRALLP EETPAAVLSS 

       970        980        990       1000       1010       1020 
AENIAVGLAT EKACAWLSAN ITALIRREVK AAVSRTLRAQ GPEPAARGER RGCSRACEHH 

      1030       1040       1050       1060       1070       1080 
APLPSHLISE IKDVLSLAVG PRDPDEGVSP EHLEQLLGQL GQTLRCRQFL CPPAEQHLAK 

      1090       1100       1110       1120       1130       1140 
CSVELASLLV ADQIPILGPP AQYRLERGQA RRLLHMLLSL WKEDFQGPVP LQLLLSPRNV 

      1150       1160       1170       1180       1190       1200 
GLLADTRPRE WDLLLFLLRE LVEKGLMGRM EIEACLGSLH QAQWPGDFAE ELATLSNLFL 

      1210       1220 
AEPHLPEPQL RACELVQPNR GTVLAQS 

« Hide

Isoform 1 [UniParc].

Checksum: 0674D569F19BCD52
Show »

FASTA1,226133,992
Isoform 3 (Sequence not available).

References

« Hide 'large scale' references
[1]"Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1."
Dgany O., Avidan N., Delaunay J., Krasnov T., Shalmon L., Shalev H., Eidelitz-Markus T., Kapelushnik J., Cattan D., Pariente A., Tulliez M., Cretien A., Schischmanoff P.-O., Iolascon A., Fibach E., Koren A., Roessler J., Le Merrer M. expand/collapse author list , Yaniv I., Zaizov R., Ben-Asher E., Olender T., Lancet D., Beckmann J.S., Tamary H.
Am. J. Hum. Genet. 71:1467-1474(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), TISSUE SPECIFICITY, VARIANTS CDAN1A SER-599; LEU-672; LYS-698; TRP-714; ILE-868; MET-869; TRP-1042; VAL-1043 AND LEU-1130.
[2]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Kidney and Ovary.
[4]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 669-1016 (ISOFORM 2).
[5]"Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1-alpha localization in erythroblasts."
Renella R., Roberts N.A., Brown J.M., De Gobbi M., Bird L.E., Hassanali T., Sharpe J.A., Sloane-Stanley J., Ferguson D.J., Cordell J., Buckle V.J., Higgs D.R., Wood W.G.
Blood 117:6928-6938(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[6]"Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply."
Ask K., Jasencakova Z., Menard P., Feng Y., Almouzni G., Groth A.
EMBO J. 31:2013-2023(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, FUNCTION, INTERACTION WITH ASF1A AND ASF1B, IDENTIFICATION IN A COMPLEX WITH ASF1A; ASF1B; IPO4; HISTONES H3.2 AND H4, CHARACTERIZATION OF VARIANTS TRP-714 AND TRP-1042, IDENTIFICATION BY MASS SPECTROMETRY.
[7]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_612486.2. NM_138477.2.
UniGeneHs.599232.

3D structure databases

ProteinModelPortalQ8IWY9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126963. 7 interactions.
DIPDIP-24225N.
IntActQ8IWY9. 4 interactions.
MINTMINT-1377874.
STRING9606.ENSP00000348564.

PTM databases

PhosphoSiteQ8IWY9.

Polymorphism databases

DMDM296439465.

Proteomic databases

PaxDbQ8IWY9.
PRIDEQ8IWY9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356231; ENSP00000348564; ENSG00000140326. [Q8IWY9-2]
GeneID146059.
KEGGhsa:146059.
UCSCuc001zql.3. human. [Q8IWY9-2]

Organism-specific databases

CTD146059.
GeneCardsGC15M043015.
H-InvDBHIX0202162.
HGNCHGNC:1713. CDAN1.
HPAHPA039404.
HPA040787.
MIM224120. phenotype.
607465. gene.
neXtProtNX_Q8IWY9.
Orphanet98869. Congenital dyserythropoietic anemia type I.
PharmGKBPA26249.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79208.
HOGENOMHOG000111492.
HOVERGENHBG107631.
InParanoidQ8IWY9.
OMAREQSSRV.
OrthoDBEOG715Q3S.
PhylomeDBQ8IWY9.
TreeFamTF328405.

Gene expression databases

ArrayExpressQ8IWY9.
BgeeQ8IWY9.
CleanExHS_CDAN1.
GenevestigatorQ8IWY9.

Family and domain databases

InterProIPR028171. Codanin-1_C.
[Graphical view]
PfamPF15296. Codanin-1_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCDAN1. human.
GenomeRNAi146059.
NextBio85255.
PROQ8IWY9.
SOURCESearch...

Entry information

Entry nameCDAN1_HUMAN
AccessionPrimary (citable) accession number: Q8IWY9
Secondary accession number(s): Q6NYD0, Q7Z7L5, Q969N3
Entry history
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 96 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM