Q8IWY9 (CDAN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Codanin-1

Gene names

Name:	CDAN1
ORF Names:	UNQ664/PRO1295

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1227 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Might be involved in nuclear membrane integrity.
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Ubiquitously expressed. Isoform 3 is not found in erythroid cells. Ref.1
Involvement in disease	Defects in CDAN1 are the cause of congenital dyserythropoietic anemia type 1 (CDA1) [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. 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.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Congenital dyserythropoietic anemia Disease mutation Hereditary hemolytic anemia
Domain	Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1227	1227	Codanin-1		PRO_0000089439
Regions
	Transmembrane	312 – 332	21	Helical; Potential
	Transmembrane	626 – 646	21	Helical; Potential
Amino acid modifications
	Modified residue	71	1	Phosphothreonine Ref.5
	Modified residue	265	1	Phosphoserine Ref.5
	Modified residue	277	1	Phosphoserine Ref.5
Natural variations
	Alternative sequence	190	1	G → GETQLSCRRWVPRRLWGVSH SSSALRSGAPGCR in isoform 1.		VSP_027097
	Alternative sequence	226 – 258	33	Missing in isoform 1.		VSP_027098
	Natural variant	107	1	Q → L. Corresponds to variant rs4265781 [ dbSNP | Ensembl ].		VAR_059602
	Natural variant	596	1	Q → R. Corresponds to variant rs12917189 [ dbSNP | Ensembl ].		VAR_056785
	Natural variant	599	1	N → S in CDA1. Ref.1		VAR_017218
	Natural variant	672	1	P → L in CDA1. Ref.1		VAR_017219
	Natural variant	698	1	E → K in CDA1. Ref.1		VAR_017220
	Natural variant	714	1	R → W in CDA1. Ref.1		VAR_017221
	Natural variant	868	1	F → I in CDA1. Ref.1		VAR_017222
	Natural variant	869	1	V → M in CDA1. Ref.1		VAR_017223
	Natural variant	891	1	R → C. Corresponds to variant rs8023524 [ dbSNP | Ensembl ].		VAR_056786
	Natural variant	1042	1	R → W in CDA1. Ref.1		VAR_017224
	Natural variant	1043	1	D → V in CDA1. Ref.1		VAR_017225
	Natural variant	1130	1	P → L in CDA1. Ref.1		VAR_017226
Experimental info
	Sequence conflict	31 – 32	2	DN → VT in AAO14994. Ref.1
	Sequence conflict	39	1	L → V in AAO14994. Ref.1
	Sequence conflict	42 – 45	4	LRAL → FGAW in AAO14994. Ref.1
	Sequence conflict	51 – 52	2	PF → RS in AAO14994. Ref.1
	Sequence conflict	55	1	N → T in AAO14994. Ref.1
	Sequence conflict	73	1	A → P in AAO14994. Ref.1
	Sequence conflict	76	1	P → R in AAO14994. Ref.1
	Sequence conflict	82	1	L → C in AAO14994. Ref.1
	Sequence conflict	93	1	S → T in AAO14994. Ref.1
	Sequence conflict	380	1	V → F in AAO14994. Ref.1
	Sequence conflict	421	1	S → F in AAH52568. Ref.3
	Sequence conflict	421	1	S → F in AAH66640. Ref.3
	Sequence conflict	669	1	Q → P in AAQ88832. Ref.4
	Sequence conflict	726	1	S → C in AAO14994. Ref.1
	Sequence conflict	946	1	R → W in AAH01092. Ref.3
	Sequence conflict	946	1	R → W in AAH08333. Ref.3
	Sequence conflict	946	1	R → W in AAH08334. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 2 [UniParc]. Last modified May 18, 2010. Version 4. Checksum: E2BC04ACD669DF6F	FASTA	1,227	134,120
	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
	Isoform 1 [UniParc]. Checksum: 0674D569F19BCD52	FASTA	1,226	133,992
	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 ETQLSCRRWV PRRLWGVSHS SSALRSGAPG CRTKPSRRIN PTPVSEERSL 250 260 270 280 290 300 SKPKTCFTSP PISCVPSSKQ LQQSPTPTCP TPELGSPLPS RTGSLTDEPA DPARVSSRQR 310 320 330 340 350 360 LELVALVYSS CIAENLVPNL FLELFFVFQL LTARRMVTAK DSDPELSPAV LDSLESPLFQ 370 380 390 400 410 420 SIHDCVFFAV QVLECHFQVL SNLDKGTLKL LAENERLLCF SPALQGRLRA AYEGSVAKVS 430 440 450 460 470 480 LVMPPSTQAV SFQPETDNRA NFSSDRAFHT FKKQRDVFYE VLREWEDHHE EPGWDFEKGL 490 500 510 520 530 540 GSRIRAMMGQ LSAACSHSHF VRLFQKQLLQ MCQSPGGAGG TVLGEAPDVL SMLGADKLGR 550 560 570 580 590 600 LWRLQERLMA PQSSGGPCPP PTFPGCQGFF RDFILSASSF QFNQHLMDSL SLKIQELNGL 610 620 630 640 650 660 ALPQHEPNDE DGESDVDWQG ERKQFAVVLL SLRLLAKFLG FVAFLPYRGP EPPPTGELQD 670 680 690 700 710 720 SILALRSQVP PVLDVRTLLQ RGLQARRAVL TVPWLVEFLS FADHVVPLLE YYRDIFTLLL 730 740 750 760 770 780 RLHRSLVLSQ ESEGKMCFLN KLLLLAVLGW LFQIPTVPED LFFLEEGPSY AFEVDTVAPE 790 800 810 820 830 840 HGLDNAPVVD QQLLYTCCPY IGELRKLLAS WVSGSSGRSG GFMRKITPTT TTSLGAQPSQ 850 860 870 880 890 900 TSQGLQAQLA QAFFHNQPPS LRRTVEFVAE RIGSNCVKHI KATLVADLVR QAESLLQEQL 910 920 930 940 950 960 VTQGEEGGDP AQLLEILCSQ LCPHGAQALA LGREFCQRKS PGAVRALLPE ETPAAVLSSA 970 980 990 1000 1010 1020 ENIAVGLATE KACAWLSANI TALIRREVKA AVSRTLRAQG PEPAARGERR GCSRACEHHA 1030 1040 1050 1060 1070 1080 PLPSHLISEI KDVLSLAVGP RDPDEGVSPE HLEQLLGQLG QTLRCRQFLC PPAEQHLAKC 1090 1100 1110 1120 1130 1140 SVELASLLVA DQIPILGPPA QYRLERGQAR RLLHMLLSLW KEDFQGPVPL QLLLSPRNVG 1150 1160 1170 1180 1190 1200 LLADTRPREW DLLLFLLREL VEKGLMGRME IEACLGSLHQ AQWPGDFAEE LATLSNLFLA 1210 1220 EPHLPEPQLR ACELVQPNRG TVLAQS
	Isoform 3 (Sequence not available).		–	–

References

	« Hide 'large scale' referencesShow '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. , 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: 12434312] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), TISSUE SPECIFICITY, VARIANTS CDA1 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. , 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: 16572171] [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: 15489334] [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. , 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: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 669-1016 (ISOFORM 2).
[5]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-71; SER-265 AND SER-277, MASS SPECTROMETRY. Tissue: Embryonic kidney.
+	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.
IPI	IPI00217439. IPI00386747.
RefSeq	NP_612486.2. NM_138477.2.
UniGene	Hs.599232.
3D structure databases
ProteinModelPortal	Q8IWY9.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-24225N.
IntAct	Q8IWY9. 1 interaction.
MINT	MINT-1377874.
STRING	Q8IWY9.
PTM databases
PhosphoSite	Q8IWY9.
Polymorphism databases
DMDM	296439465.
Proteomic databases
PRIDE	Q8IWY9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000356231; ENSP00000348564; ENSG00000140326.
GeneID	146059.
KEGG	hsa:146059.
UCSC	uc001zql.1. human.
Organism-specific databases
CTD	146059.
GeneCards	GC15M043015.
H-InvDB	HIX0202162.
HGNC	HGNC:1713. CDAN1.
HPA	HPA039404.
MIM	224120. phenotype. 607465. gene.
neXtProt	NX_Q8IWY9.
Orphanet	98869. Congenital dyserythropoietic anemia type 1.
PharmGKB	PA26249.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18196.
GeneTree	ENSGT00390000000491.
HOGENOM	HBG444664.
HOVERGEN	HBG107631.
InParanoid	Q8IWY9.
OMA	CIAENLV.
PhylomeDB	Q8IWY9.
Gene expression databases
ArrayExpress	Q8IWY9.
Bgee	Q8IWY9.
CleanEx	HS_CDAN1.
Genevestigator	Q8IWY9.
GermOnline	ENSG00000140326. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	85255.
SOURCE	Search...

Entry information

Entry name

CDAN1_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 78 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.