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UniProtKB - Q8IWY9 (CDAN1_HUMAN)
Protein
Codanin-1
Gene
CDAN1
Organism
Homo sapiens (Human)
Status
Functioni
May act as a negative regulator of ASF1 in chromatin assembly.
1 PublicationGO - Biological processi
- chromatin assembly Source: UniProtKB
- chromatin organization Source: MGI
- negative regulation of DNA replication Source: UniProtKB
- protein localization Source: MGI
Enzyme and pathway databases
PathwayCommonsi | Q8IWY9 |
SignaLinki | Q8IWY9 |
Names & Taxonomyi
Protein namesi | Recommended name: Codanin-1 |
Gene namesi | Name:CDAN1 ORF Names:UNQ664/PRO1295 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1713, CDAN1 |
MIMi | 607465, gene |
neXtProti | NX_Q8IWY9 |
VEuPathDBi | HostDB:ENSG00000140326 |
Subcellular locationi
Cytoplasm and Cytosol
Nucleus
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Note: Mainly detected as a cytoplasmic protein.
Cytosol
- cytosol Source: HPA
Nucleus
- nucleus Source: UniProtKB
Plasma Membrane
- plasma membrane Source: HPA
Other locations
- cytoplasm Source: UniProtKB
- endomembrane system Source: MGI
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 312 – 332 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 626 – 646 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cytoplasm, Membrane, NucleusPathology & Biotechi
Involvement in diseasei
Anemia, congenital dyserythropoietic, 1A (CDAN1A)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017218 | 599 | N → S in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074166EnsemblClinVar. | 1 | |
Natural variantiVAR_017219 | 672 | P → L in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074167EnsemblClinVar. | 1 | |
Natural variantiVAR_017220 | 698 | E → K in CDAN1A. 1 Publication | 1 | |
Natural variantiVAR_017221 | 714 | R → 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_017222 | 868 | F → I in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074168EnsemblClinVar. | 1 | |
Natural variantiVAR_017223 | 869 | V → M in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs370895637EnsemblClinVar. | 1 | |
Natural variantiVAR_017224 | 1042 | R → W in CDAN1A; partially disrupts ASF1 binding. 2 PublicationsCorresponds to variant dbSNP:rs80338697EnsemblClinVar. | 1 | |
Natural variantiVAR_017225 | 1043 | D → V in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs80338698EnsemblClinVar. | 1 | |
Natural variantiVAR_017226 | 1130 | P → L in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs80338699EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital dyserythropoietic anemia, Disease variant, Hereditary hemolytic anemiaOrganism-specific databases
DisGeNETi | 146059 |
GeneReviewsi | CDAN1 |
MalaCardsi | CDAN1 |
MIMi | 224120, phenotype |
OpenTargetsi | ENSG00000140326 |
Orphaneti | 98869, Congenital dyserythropoietic anemia type I |
PharmGKBi | PA26249 |
Miscellaneous databases
Pharosi | Q8IWY9, Tbio |
Genetic variation databases
BioMutai | CDAN1 |
DMDMi | 296439465 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000089439 | 2 – 1227 | Codanin-1Add BLAST | 1226 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 71 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 265 | PhosphoserineCombined sources | 1 | |
Modified residuei | 285 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q8IWY9 |
jPOSTi | Q8IWY9 |
MassIVEi | Q8IWY9 |
MaxQBi | Q8IWY9 |
PaxDbi | Q8IWY9 |
PeptideAtlasi | Q8IWY9 |
PRIDEi | Q8IWY9 |
ProteomicsDBi | 70932 [Q8IWY9-2] 70933 [Q8IWY9-1] |
PTM databases
iPTMneti | Q8IWY9 |
PhosphoSitePlusi | Q8IWY9 |
Expressioni
Tissue specificityi
Ubiquitously expressed. Isoform 3 is not found in erythroid cells.1 Publication
Gene expression databases
Bgeei | ENSG00000140326, Expressed in sural nerve and 191 other tissues |
ExpressionAtlasi | Q8IWY9, baseline and differential |
Genevisiblei | Q8IWY9, HS |
Organism-specific databases
HPAi | ENSG00000140326, Low tissue specificity |
Interactioni
Subunit structurei
Found in a cytosolic complex with ASF1A, ASF1B, IPO4 and histones H3.1 and H4.
1 PublicationProtein-protein interaction databases
BioGRIDi | 126963, 29 interactors |
CORUMi | Q8IWY9 |
DIPi | DIP-24225N |
IntActi | Q8IWY9, 6 interactors |
MINTi | Q8IWY9 |
STRINGi | 9606.ENSP00000348564 |
Miscellaneous databases
RNActi | Q8IWY9, protein |
Structurei
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 63 – 294 | DisorderedSequence analysisAdd BLAST | 232 | |
Regioni | 188 – 208 | Interaction with ASF1A/B1 PublicationAdd BLAST | 21 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 116 – 137 | Basic and acidic residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 158 – 172 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 193 – 233 | Polar residuesSequence analysisAdd BLAST | 41 | |
Compositional biasi | 260 – 284 | Polar residuesSequence analysisAdd BLAST | 25 |
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QPWR, Eukaryota |
GeneTreei | ENSGT00390000000491 |
HOGENOMi | CLU_007378_0_0_1 |
InParanoidi | Q8IWY9 |
OMAi | CVVKDAQ |
OrthoDBi | 664227at2759 |
PhylomeDBi | Q8IWY9 |
TreeFami | TF328405 |
Family and domain databases
InterProi | View protein in InterPro IPR040031, Codanin-1 IPR028171, Codanin-1_C |
PANTHERi | PTHR28678, PTHR28678, 1 hit |
Pfami | View protein in Pfam PF15296, Codanin-1_C, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
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 basketH3BM60 | H3BM60_HUMAN | Codanin-1 | CDAN1 | 347 | Annotation score: | ||
H3BPZ6 | H3BPZ6_HUMAN | Codanin-1 | CDAN1 | 95 | Annotation score: | ||
A0A2R8Y5C2 | A0A2R8Y5C2_HUMAN | Codanin-1 | CDAN1 | 74 | Annotation score: |
Sequence cautioni
The sequence AAH52568 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAO14994 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAQ88832 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 31 – 32 | DN → VT in AAO14994 (PubMed:12434312).Curated | 2 | |
Sequence conflicti | 39 | L → V in AAO14994 (PubMed:12434312).Curated | 1 | |
Sequence conflicti | 42 – 45 | LRAL → FGAW in AAO14994 (PubMed:12434312).Curated | 4 | |
Sequence conflicti | 51 – 52 | PF → RS in AAO14994 (PubMed:12434312).Curated | 2 | |
Sequence conflicti | 55 | N → T in AAO14994 (PubMed:12434312).Curated | 1 | |
Sequence conflicti | 73 | A → P in AAO14994 (PubMed:12434312).Curated | 1 | |
Sequence conflicti | 76 | P → R in AAO14994 (PubMed:12434312).Curated | 1 | |
Sequence conflicti | 82 | L → C in AAO14994 (PubMed:12434312).Curated | 1 | |
Sequence conflicti | 93 | S → T in AAO14994 (PubMed:12434312).Curated | 1 | |
Sequence conflicti | 380 | V → F in AAO14994 (PubMed:12434312).Curated | 1 | |
Sequence conflicti | 421 | S → F in AAH52568 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 421 | S → F in AAH66640 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 669 | Q → P in AAQ88832 (PubMed:12975309).Curated | 1 | |
Sequence conflicti | 726 | S → C in AAO14994 (PubMed:12434312).Curated | 1 | |
Sequence conflicti | 946 | R → W in AAH01092 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 946 | R → W in AAH08333 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 946 | R → W in AAH08334 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059602 | 107 | Q → L. Corresponds to variant dbSNP:rs4265781EnsemblClinVar. | 1 | |
Natural variantiVAR_056785 | 596 | Q → R. Corresponds to variant dbSNP:rs12917189EnsemblClinVar. | 1 | |
Natural variantiVAR_017218 | 599 | N → S in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074166EnsemblClinVar. | 1 | |
Natural variantiVAR_017219 | 672 | P → L in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074167EnsemblClinVar. | 1 | |
Natural variantiVAR_017220 | 698 | E → K in CDAN1A. 1 Publication | 1 | |
Natural variantiVAR_017221 | 714 | R → 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_017222 | 868 | F → I in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs120074168EnsemblClinVar. | 1 | |
Natural variantiVAR_017223 | 869 | V → M in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs370895637EnsemblClinVar. | 1 | |
Natural variantiVAR_056786 | 891 | R → C. Corresponds to variant dbSNP:rs8023524EnsemblClinVar. | 1 | |
Natural variantiVAR_017224 | 1042 | R → W in CDAN1A; partially disrupts ASF1 binding. 2 PublicationsCorresponds to variant dbSNP:rs80338697EnsemblClinVar. | 1 | |
Natural variantiVAR_017225 | 1043 | D → V in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs80338698EnsemblClinVar. | 1 | |
Natural variantiVAR_017226 | 1130 | P → L in CDAN1A. 1 PublicationCorresponds to variant dbSNP:rs80338699EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_027097 | 190 | G → GETQLSCRRWVPRRLWGVSH SSSALRSGAPGCR in isoform 1. 1 Publication | 1 | |
Alternative sequenceiVSP_027098 | 226 – 258 | Missing in isoform 1. 1 PublicationAdd BLAST | 33 |
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. |
CCDSi | CCDS32209.1 [Q8IWY9-2] |
RefSeqi | NP_612486.2, NM_138477.2 [Q8IWY9-2] |
Genome annotation databases
Ensembli | ENST00000356231; ENSP00000348564; ENSG00000140326 |
GeneIDi | 146059 |
KEGGi | hsa:146059 |
MANE-Selecti | ENST00000356231.4; ENSP00000348564.3; NM_138477.4; NP_612486.2 |
UCSCi | uc001zql.4, human [Q8IWY9-2] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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. |
CCDSi | CCDS32209.1 [Q8IWY9-2] |
RefSeqi | NP_612486.2, NM_138477.2 [Q8IWY9-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 126963, 29 interactors |
CORUMi | Q8IWY9 |
DIPi | DIP-24225N |
IntActi | Q8IWY9, 6 interactors |
MINTi | Q8IWY9 |
STRINGi | 9606.ENSP00000348564 |
PTM databases
iPTMneti | Q8IWY9 |
PhosphoSitePlusi | Q8IWY9 |
Genetic variation databases
BioMutai | CDAN1 |
DMDMi | 296439465 |
Proteomic databases
EPDi | Q8IWY9 |
jPOSTi | Q8IWY9 |
MassIVEi | Q8IWY9 |
MaxQBi | Q8IWY9 |
PaxDbi | Q8IWY9 |
PeptideAtlasi | Q8IWY9 |
PRIDEi | Q8IWY9 |
ProteomicsDBi | 70932 [Q8IWY9-2] 70933 [Q8IWY9-1] |
Protocols and materials databases
Antibodypediai | 42152, 129 antibodies from 20 providers |
DNASUi | 146059 |
Genome annotation databases
Ensembli | ENST00000356231; ENSP00000348564; ENSG00000140326 |
GeneIDi | 146059 |
KEGGi | hsa:146059 |
MANE-Selecti | ENST00000356231.4; ENSP00000348564.3; NM_138477.4; NP_612486.2 |
UCSCi | uc001zql.4, human [Q8IWY9-2] |
Organism-specific databases
CTDi | 146059 |
DisGeNETi | 146059 |
GeneCardsi | CDAN1 |
GeneReviewsi | CDAN1 |
HGNCi | HGNC:1713, CDAN1 |
HPAi | ENSG00000140326, Low tissue specificity |
MalaCardsi | CDAN1 |
MIMi | 224120, phenotype 607465, gene |
neXtProti | NX_Q8IWY9 |
OpenTargetsi | ENSG00000140326 |
Orphaneti | 98869, Congenital dyserythropoietic anemia type I |
PharmGKBi | PA26249 |
VEuPathDBi | HostDB:ENSG00000140326 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPWR, Eukaryota |
GeneTreei | ENSGT00390000000491 |
HOGENOMi | CLU_007378_0_0_1 |
InParanoidi | Q8IWY9 |
OMAi | CVVKDAQ |
OrthoDBi | 664227at2759 |
PhylomeDBi | Q8IWY9 |
TreeFami | TF328405 |
Enzyme and pathway databases
PathwayCommonsi | Q8IWY9 |
SignaLinki | Q8IWY9 |
Miscellaneous databases
BioGRID-ORCSi | 146059, 466 hits in 1055 CRISPR screens |
ChiTaRSi | CDAN1, human |
GenomeRNAii | 146059 |
Pharosi | Q8IWY9, Tbio |
PROi | PR:Q8IWY9 |
RNActi | Q8IWY9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000140326, Expressed in sural nerve and 191 other tissues |
ExpressionAtlasi | Q8IWY9, baseline and differential |
Genevisiblei | Q8IWY9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR040031, Codanin-1 IPR028171, Codanin-1_C |
PANTHERi | PTHR28678, PTHR28678, 1 hit |
Pfami | View protein in Pfam PF15296, Codanin-1_C, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CDAN1_HUMAN | |
Accessioni | Q8IWY9Primary (citable) accession number: Q8IWY9 Secondary accession number(s): Q6NYD0, Q7Z7L5, Q969N3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 7, 2003 |
Last sequence update: | May 18, 2010 | |
Last modified: | February 23, 2022 | |
This is version 148 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot