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UniProtKB - O95644 (NFAC1_HUMAN)

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Protein

Nuclear factor of activated T-cells, cytoplasmic 1

Gene

NFATC1

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

Functioni

Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi439 – 4468

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • calcineurin-NFAT signaling cascade Source: UniProtKB
  • Fc-epsilon receptor signaling pathway Source: Reactome
  • intracellular signal transduction Source: MGI
  • negative regulation of vascular smooth muscle cell differentiation Source: BHF-UCL
  • negative regulation of Wnt signaling pathway Source: ParkinsonsUK-UCL
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription by RNA polymerase II Source: UniProtKB
  • transcription by RNA polymerase II Source: ProtInc
  • Wnt signaling pathway, calcium modulating pathway Source: Reactome
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-2025928 Calcineurin activates NFAT
R-HSA-2871809 FCERI mediated Ca+2 mobilization
R-HSA-4086398 Ca2+ pathway
R-HSA-5607763 CLEC7A (Dectin-1) induces NFAT activation
SIGNORiO95644

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear factor of activated T-cells, cytoplasmic 1
Short name:
NF-ATc1
Short name:
NFATc1
Alternative name(s):
NFAT transcription complex cytosolic component
Short name:
NF-ATc
Short name:
NFATc
Gene namesi
Name:NFATC1
Synonyms:NFAT2, NFATC
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 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000131196.17
HGNCiHGNC:7775 NFATC1
MIMi600489 gene
neXtProtiNX_O95644

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

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi169S → A: No effect on subcellular localization. 1
Mutagenesisi172S → A: Partial nuclear translocation. 1 Publication1
Mutagenesisi187S → A: No effect on subcellular localization. 1 Publication1

Organism-specific databases

DisGeNETi4772
OpenTargetsiENSG00000131196
PharmGKBiPA31582

Chemistry databases

ChEMBLiCHEMBL3876
DrugBankiDB00852 Pseudoephedrine

Polymorphism and mutation databases

BioMutaiNFATC1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000303291 – 943Nuclear factor of activated T-cells, cytoplasmic 1Add BLAST943

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei233PhosphoserineCombined sources1
Modified residuei237PhosphoserineBy similarity1
Modified residuei245Phosphoserine; by PKA1 Publication1
Modified residuei269Phosphoserine; by PKA1 Publication1
Modified residuei294Phosphoserine; by PKA1 Publication1

Post-translational modificationi

Phosphorylated by NFATC-kinase and GSK3B; phosphorylation induces NFATC1 nuclear exit and dephosphorylation by calcineurin promotes nuclear import. Phosphorylation by PKA and DYRK2 negatively modulates nuclear accumulation, and promotes subsequent phosphorylation by GSK3B or casein kinase 1.3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO95644
MaxQBiO95644
PaxDbiO95644
PeptideAtlasiO95644
PRIDEiO95644
ProteomicsDBi50973
50974 [O95644-2]
50975 [O95644-3]
50976 [O95644-4]
50977 [O95644-5]
50978 [O95644-6]
50979 [O95644-8]

PTM databases

iPTMnetiO95644
PhosphoSitePlusiO95644

Expressioni

Tissue specificityi

Expressed in thymus, peripheral leukocytes as T-cells and spleen. Isoforms A are preferentially expressed in effector T-cells (thymus and peripheral leukocytes) whereas isoforms B and isoforms C are preferentially expressed in naive T-cells (spleen). Isoforms B are expressed in naive T-cells after first antigen exposure and isoforms A are expressed in effector T-cells after second antigen exposure. Isoforms IA are widely expressed but not detected in liver nor pancreas, neural expression is strongest in corpus callosum. Isoforms IB are expressed mostly in muscle, cerebellum, placenta and thymus, neural expression in fetal and adult brain, strongest in corpus callosum.1 Publication

Inductioni

Only isoforms A are inducibly expressed in T lymphocytes upon activation of the T-cell receptor (TCR) complex. Induced after co-addition of phorbol 12-myristate 13-acetate (PMA) and ionomycin. Also induced after co-addition of 12-O-tetradecanoylphorbol-13-acetate (TPA) and ionomycin. Weakly induced with PMA, ionomycin and cyclosporin A.

Gene expression databases

BgeeiENSG00000131196
CleanExiHS_NFATC1
ExpressionAtlasiO95644 baseline and differential
GenevisibleiO95644 HS

Organism-specific databases

HPAiCAB004513
HPA071732

Interactioni

Subunit structurei

Member of the multicomponent NFATC transcription complex that consists of at least two components, a pre-existing cytoplasmic component NFATC2 and an inducible nuclear component NFATC1. Other members such as NFATC4, NFATC3 or members of the activating protein-1 family, MAF, GATA4 and Cbp/p300 can also bind the complex. NFATC proteins bind to DNA as monomers (PubMed:9506523). Interacts with HOMER2 and HOMER3 (PubMed:18218901).2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi110845, 142 interactors
DIPiDIP-44311N
IntActiO95644, 47 interactors
MINTiO95644
STRINGi9606.ENSP00000327850

Structurei

Secondary structure

1943
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi426 – 432Combined sources7
Beta strandi443 – 445Combined sources3
Beta strandi454 – 456Combined sources3
Beta strandi460 – 465Combined sources6
Beta strandi468 – 470Combined sources3
Beta strandi472 – 480Combined sources9
Beta strandi483 – 485Combined sources3
Beta strandi509 – 511Combined sources3
Beta strandi514 – 521Combined sources8
Beta strandi523 – 525Combined sources3
Helixi541 – 545Combined sources5
Beta strandi551 – 553Combined sources3
Beta strandi559 – 570Combined sources12
Turni571 – 573Combined sources3
Beta strandi574 – 586Combined sources13

3D structure databases

ProteinModelPortaliO95644
SMRiO95644
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO95644

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati203 – 2191Add BLAST17
Repeati233 – 2492Add BLAST17
Repeati282 – 2983Add BLAST17
Domaini410 – 592RHDPROSITE-ProRule annotationAdd BLAST183

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni118 – 123Calcineurin-binding6
Regioni126 – 218Trans-activation domain A (TAD-A)Add BLAST93
Regioni203 – 2983 X SP repeatsAdd BLAST96
Regioni703 – 943Trans-activation domain B (TAD-B)Add BLAST241

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi265 – 267Nuclear localization signal3
Motifi310 – 321Nuclear export signalAdd BLAST12
Motifi682 – 684Nuclear localization signal3
Motifi924 – 933Nuclear export signal10

Domaini

Rel Similarity Domain (RSD) allows DNA-binding and cooperative interactions with AP1 factors.
The N-terminal transactivation domain (TAD-A) binds to and is activated by Cbp/p300. The dephosphorylated form contains two unmasked nuclear localization signals (NLS), which allow translocation of the protein to the nucleus.
Isoforms C have a C-terminal part with an additional trans-activation domain, TAD-B, which acts as a transcriptional activator. Isoforms B have a shorter C-terminal part without complete TAD-B which acts as a transcriptional repressor.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IHFR Eukaryota
ENOG41105U2 LUCA
GeneTreeiENSGT00550000074562
HOGENOMiHOG000231780
HOVERGENiHBG069754
InParanoidiO95644
KOiK04446
OMAiHNNNQFF
OrthoDBiEOG091G01QP
PhylomeDBiO95644
TreeFamiTF326480

Family and domain databases

Gene3Di2.60.40.10, 1 hit
2.60.40.340, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR002909 IPT_dom
IPR008366 NFAT
IPR015647 NFAT1
IPR008967 p53-like_TF_DNA-bd
IPR032397 RHD_dimer
IPR011539 RHD_DNA_bind_dom
IPR037059 RHD_DNA_bind_dom_sf
PANTHERiPTHR12533 PTHR12533, 1 hit
PTHR12533:SF5 PTHR12533:SF5, 1 hit
PfamiView protein in Pfam
PF16179 RHD_dimer, 1 hit
PF00554 RHD_DNA_bind, 1 hit
PRINTSiPR01789 NUCFACTORATC
SMARTiView protein in SMART
SM00429 IPT, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS50254 REL_2, 1 hit

Sequences (10)i

Sequence statusi: Complete.

This entry describes 10 isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basket

Note: Isoform C-alpha and isoform C-beta are the strongest activator of gene transcription, followed by isoform A-alpha and isoform A-beta, whereas isoform B-alpha and isoform B-beta are the weakest. Isoform B-alpha, isoform B-beta, isoform C-alpha and isoform C-beta, both present in T-cells, can modulate their transcriptional activity.
Isoform C-alpha (identifier: O95644-1) [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
MPSTSFPVPS KFPLGPAAAV FGRGETLGPA PRAGGTMKSA EEEHYGYASS 
        60         70         80         90        100
NVSPALPLPT AHSTLPAPCH NLQTSTPGII PPADHPSGYG AALDGGPAGY 
       110        120        130        140        150
FLSSGHTRPD GAPALESPRI EITSCLGLYH NNNQFFHDVE VEDVLPSSKR 
       160        170        180        190        200
SPSTATLSLP SLEAYRDPSC LSPASSLSSR SCNSEASSYE SNYSYPYASP 
       210        220        230        240        250
QTSPWQSPCV SPKTTDPEEG FPRGLGACTL LGSPRHSPST SPRASVTEES 
       260        270        280        290        300
WLGARSSRPA SPCNKRKYSL NGRQPPYSPH HSPTPSPHGS PRVSVTDDSW 
       310        320        330        340        350
LGNTTQYTSS AIVAAINALT TDSSLDLGDG VPVKSRKTTL EQPPSVALKV 
       360        370        380        390        400
EPVGEDLGSP PPPADFAPED YSSFQHIRKG GFCDQYLAVP QHPYQWAKPK 
       410        420        430        440        450
PLSPTSYMSP TLPALDWQLP SHSGPYELRI EVQPKSHHRA HYETEGSRGA 
       460        470        480        490        500
VKASAGGHPI VQLHGYLENE PLMLQLFIGT ADDRLLRPHA FYQVHRITGK 
       510        520        530        540        550
TVSTTSHEAI LSNTKVLEIP LLPENSMRAV IDCAGILKLR NSDIELRKGE 
       560        570        580        590        600
TDIGRKNTRV RLVFRVHVPQ PSGRTLSLQV ASNPIECSQR SAQELPLVEK 
       610        620        630        640        650
QSTDSYPVVG GKKMVLSGHN FLQDSKVIFV EKAPDGHHVW EMEAKTDRDL 
       660        670        680        690        700
CKPNSLVVEI PPFRNQRITS PVHVSFYVCN GKRKRSQYQR FTYLPANVPI 
       710        720        730        740        750
IKTEPTDDYE PAPTCGPVSQ GLSPLPRPYY SQQLAMPPDP SSCLVAGFPP 
       760        770        780        790        800
CPQRSTLMPA APGVSPKLHD LSPAAYTKGV ASPGHCHLGL PQPAGEAPAV 
       810        820        830        840        850
QDVPRPVATH PGSPGQPPPA LLPQQVSAPP SSSCPPGLEH SLCPSSPSPP 
       860        870        880        890        900
LPPATQEPTC LQPCSPACPP ATGRPQHLPS TVRRDESPTA GPRLLPEVHE 
       910        920        930        940 
DGSPNLAPIP VTVKREPEEL DQLYLDDVNE IIRNDLSSTS THS
Length:943
Mass (Da):101,243
Last modified:December 1, 2000 - v3
Checksum:iE72FAB10ECEB2D66
GO
Isoform A-alpha (identifier: O95644-2) [UniParc]FASTAAdd to basket
Also known as: IA-VIII

The sequence of this isoform differs from the canonical sequence as follows:
     698-716: VPIIKTEPTDDYEPAPTCG → GNAIFLTVSREHERVGCFF
     717-943: Missing.

Show »
Length:716
Mass (Da):77,785
Checksum:iC02F3B03F2019BB1
GO
Isoform A-beta (identifier: O95644-3) [UniParc]FASTAAdd to basket
Also known as: IB-VIII

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEE → MTGLEDQEFDFEFLFEFNQRDEGAAAAAP
     698-716: VPIIKTEPTDDYEPAPTCG → GNAIFLTVSREHERVGCFF
     717-943: Missing.

Show »
Length:703
Mass (Da):76,879
Checksum:i57650B6E2A9A219C
GO
Isoform B-alpha (identifier: O95644-4) [UniParc]FASTAAdd to basket
Also known as: IA-IXS

The sequence of this isoform differs from the canonical sequence as follows:
     826-943: Missing.

Show »
Length:825
Mass (Da):88,763
Checksum:i28469C5BE89B00CC
GO
Isoform B-beta (identifier: O95644-5) [UniParc]FASTAAdd to basket
Also known as: IB-IXS

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEE → MTGLEDQEFDFEFLFEFNQRDEGAAAAAP
     826-943: Missing.

Show »
Length:812
Mass (Da):87,857
Checksum:iDBF68E35846E998D
GO
Isoform C-beta (identifier: O95644-6) [UniParc]FASTAAdd to basket
Also known as: IB-IXL

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEE → MTGLEDQEFDFEFLFEFNQRDEGAAAAAP

Show »
Length:930
Mass (Da):100,336
Checksum:i8708706F1C8938AC
GO
Isoform A-alpha' (identifier: O95644-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.
     698-716: VPIIKTEPTDDYEPAPTCG → GNAIFLTVSREHERVGCFF
     717-943: Missing.

Note: Produced by alternative initiation at Met-37 of isoform A-alpha. No experimental confirmation available.
Show »
Length:680
Mass (Da):74,276
Checksum:iD9D7060FEB4E81DF
GO
Isoform IA-deltaIX (identifier: O95644-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     698-927: Missing.

Show »
Length:713
Mass (Da):77,376
Checksum:iB797CFCFF28F8976
GO
Isoform IB-deltaIX (identifier: O95644-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MPSTSFPVPSKFPLGPAAAVFGRGETLGPAPRAGGTMKSAEE → MTGLEDQEFDFEFLFEFNQRDEGAAAAAP
     698-927: Missing.

Show »
Length:700
Mass (Da):76,469
Checksum:i4A4F5475DF755F89
GO
Isoform 10 (identifier: O95644-17) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-472: Missing.
     826-943: Missing.

Note: No experimental evidence available.
Show »
Length:353
Mass (Da):38,626
Checksum:iAB8DEB0C451190DD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti232G → S in AAC50869 (PubMed:8702849).Curated1
Sequence conflicti235R → Q in AAA19601 (PubMed:8202141).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05714568P → T. Corresponds to variant dbSNP:rs1051978Ensembl.1
Natural variantiVAR_036529315A → T in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs779866756Ensembl.1
Natural variantiVAR_057146751C → G. Corresponds to variant dbSNP:rs754093Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0538061 – 472Missing in isoform 10. CuratedAdd BLAST472
Alternative sequenceiVSP_0055901 – 42MPSTS…KSAEE → MTGLEDQEFDFEFLFEFNQR DEGAAAAAP in isoform A-beta, isoform B-beta, isoform C-beta and isoform IB-deltaIX. 3 PublicationsAdd BLAST42
Alternative sequenceiVSP_0189781 – 36Missing in isoform A-alpha'. CuratedAdd BLAST36
Alternative sequenceiVSP_047820698 – 927Missing in isoform IA-deltaIX and isoform IB-deltaIX. 1 PublicationAdd BLAST230
Alternative sequenceiVSP_005591698 – 716VPIIK…APTCG → GNAIFLTVSREHERVGCFF in isoform A-alpha, isoform A-alpha' and isoform A-beta. 3 PublicationsAdd BLAST19
Alternative sequenceiVSP_005592717 – 943Missing in isoform A-alpha, isoform A-alpha' and isoform A-beta. 3 PublicationsAdd BLAST227
Alternative sequenceiVSP_005593826 – 943Missing in isoform B-alpha, isoform B-beta and isoform 10. 2 PublicationsAdd BLAST118

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U08015 mRNA Translation: AAA19601.1
U59736 mRNA Translation: AAC50869.1
U80917 mRNA Translation: AAD00450.1
U80918 mRNA Translation: AAD00451.1
U80919 mRNA Translation: AAD00452.1
EU887559 mRNA Translation: ACG55579.1
EU887560 mRNA Translation: ACG55580.1
EU887561 mRNA Translation: ACG55581.1
EU887562 mRNA Translation: ACG55582.1
EU887563 mRNA Translation: ACG55583.1
EU887564 mRNA Translation: ACG55584.1
EU887565 mRNA Translation: ACG55585.1
EU887566 mRNA Translation: ACG55586.1
AC018445 Genomic DNA No translation available.
AC023090 Genomic DNA No translation available.
CH471117 Genomic DNA Translation: EAW66621.1
CH471117 Genomic DNA Translation: EAW66622.1
BC104753 mRNA Translation: AAI04754.1
BC112243 mRNA Translation: AAI12244.1
CCDSiCCDS12015.1 [O95644-4]
CCDS12016.1 [O95644-17]
CCDS32850.1 [O95644-6]
CCDS59326.1 [O95644-2]
CCDS59327.1 [O95644-5]
CCDS62467.1 [O95644-1]
CCDS62468.1 [O95644-10]
CCDS62469.1 [O95644-11]
CCDS62470.1 [O95644-3]
PIRiS45262
RefSeqiNP_001265598.1, NM_001278669.1 [O95644-1]
NP_001265599.1, NM_001278670.1 [O95644-10]
NP_001265601.1, NM_001278672.1 [O95644-11]
NP_001265602.1, NM_001278673.1
NP_001265604.1, NM_001278675.1 [O95644-3]
NP_006153.2, NM_006162.4 [O95644-4]
NP_765975.1, NM_172387.2 [O95644-6]
NP_765976.1, NM_172388.2 [O95644-17]
NP_765977.1, NM_172389.2 [O95644-5]
NP_765978.1, NM_172390.2 [O95644-2]
UniGeneiHs.534074
Hs.701518

Genome annotation databases

EnsembliENST00000253506; ENSP00000253506; ENSG00000131196 [O95644-4]
ENST00000318065; ENSP00000316553; ENSG00000131196 [O95644-5]
ENST00000329101; ENSP00000327850; ENSG00000131196 [O95644-6]
ENST00000397790; ENSP00000380892; ENSG00000131196 [O95644-17]
ENST00000427363; ENSP00000389377; ENSG00000131196 [O95644-1]
ENST00000542384; ENSP00000442435; ENSG00000131196 [O95644-10]
ENST00000586434; ENSP00000466489; ENSG00000131196 [O95644-11]
ENST00000591814; ENSP00000466194; ENSG00000131196 [O95644-2]
ENST00000592223; ENSP00000467181; ENSG00000131196 [O95644-3]
GeneIDi4772
KEGGihsa:4772
UCSCiuc002lnc.3 human [O95644-1]

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNFAC1_HUMAN
AccessioniPrimary (citable) accession number: O95644
Secondary accession number(s): B5B2M4
, B5B2M5, B5B2M6, B5B2M7, B5B2M8, B5B2M9, B5B2N1, Q12865, Q15793, Q2M1S3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: July 18, 2018
This is version 195 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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