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Protein

Interferon-induced GTP-binding protein Mx1

Gene

MX1

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

Functioni

Interferon-induced dynamin-like GTPase with antiviral activity against a wide range of RNA viruses and some DNA viruses. Its target viruses include negative-stranded RNA viruses and HBV through binding and inactivation of their ribonucleocapsid. May also antagonize reoviridae and asfarviridae replication. Inhibits thogoto virus (THOV) replication by preventing the nuclear import of viral nucleocapsids. Inhibits La Crosse virus (LACV) replication by sequestering viral nucleoprotein in perinuclear complexes, preventing genome amplification, budding, and egress. Inhibits influenza A virus (IAV) replication by decreasing or delaying NP synthesis and by blocking endocytic traffic of incoming virus particles. Enhances ER stress-mediated cell death after influenza virus infection. May regulate the calcium channel activity of TRPCs.13 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi77 – 84GTPSequence analysis8
Nucleotide bindingi178 – 182GTPSequence analysis5
Nucleotide bindingi247 – 250GTPSequence analysis4

GO - Molecular functioni

  • GTPase activity Source: GO_Central
  • GTP binding Source: ProtInc
  • identical protein binding Source: IntAct
  • microtubule binding Source: GO_Central

GO - Biological processi

Keywordsi

Biological processAntiviral defense, Immunity, Innate immunity
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-1169408 ISG15 antiviral mechanism
R-HSA-909733 Interferon alpha/beta signaling
SIGNORiP20591

Names & Taxonomyi

Protein namesi
Recommended name:
Interferon-induced GTP-binding protein Mx1
Alternative name(s):
Interferon-induced protein p78
Short name:
IFI-78K
Interferon-regulated resistance GTP-binding protein MxA
Myxoma resistance protein 1
Myxovirus resistance protein 1
Cleaved into the following chain:
Gene namesi
Name:MX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000157601.13
HGNCiHGNC:7532 MX1
MIMi147150 gene
neXtProtiNX_P20591

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, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi81S → C: No effect on GTP-binding, nor on viral infection. 1 Publication1
Mutagenesisi83K → A: Loss of GTP-binding. Loss of potentiation of TRPC6 activity. Loss of protection against viral infection. 2 Publications1
Mutagenesisi83K → M: Loss of GTP-binding. Loss of protection against viral infection. 2 Publications1
Mutagenesisi103T → A: Loss of GTP-binding. Loss of potentiation of TRPC6 activity. Loss of protection against viral infection. 2 Publications1
Mutagenesisi554K → E: Strong liposome-binding reduction. 1 Publication1
Mutagenesisi555K → E: Strong liposome-binding reduction. 1 Publication1
Mutagenesisi556K → E: Strong liposome-binding reduction. 1 Publication1
Mutagenesisi557K → E: Strong liposome-binding reduction. 1 Publication1
Mutagenesisi612L → K: Loss of GTP-hydrolysis. No effect on GTP-binding, nor on potentiation of TRPC6 activity. 1 Publication1
Mutagenesisi632E → A: Reduced antiviral activity. 1 Publication1
Mutagenesisi640R → A: Fails to sequester viral nucleoproteins, no antiviral activity. 1 Publication1
Mutagenesisi645E → R: Loss of antiviral activity towards CCHFV and LACV. 2 Publications1

Organism-specific databases

DisGeNETi4599
OpenTargetsiENSG00000157601
PharmGKBiPA31333

Polymorphism and mutation databases

BioMutaiMX1
DMDMi251757499

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003829431 – 662Interferon-induced GTP-binding protein Mx1Add BLAST662
Initiator methionineiRemoved; alternate2 Publications
ChainiPRO_00002065922 – 662Interferon-induced GTP-binding protein Mx1, N-terminally processedAdd BLAST661

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionine; in Interferon-induced GTP-binding protein Mx1; alternate1 Publication1

Post-translational modificationi

ISGylated.1 Publication

Keywords - PTMi

Acetylation, Ubl conjugation

Proteomic databases

EPDiP20591
MaxQBiP20591
PaxDbiP20591
PeptideAtlasiP20591
PRIDEiP20591
ProteomicsDBi53763
53764 [P20591-2]

PTM databases

iPTMnetiP20591
PhosphoSitePlusiP20591

Expressioni

Inductioni

By type I and type III interferons. Isoform 2 is induced by HSV-1.1 Publication

Gene expression databases

BgeeiENSG00000157601 Expressed in 223 organ(s), highest expression level in epithelium of bronchus
CleanExiHS_MX1
ExpressionAtlasiP20591 baseline and differential
GenevisibleiP20591 HS

Organism-specific databases

HPAiHPA030917
HPA030918
HPA049724

Interactioni

Subunit structurei

Homotetramer. Oligomerizes into multimeric filamentous or ring-like structures by virtue of its stalk domain. Oligomerization is critical for GTPase activity, protein stability, and recognition of viral target structures. Interacts with TRPC1, TRPC3, TRPC4, TRPC5, TRPC6 and TRPC7. Interacts with HSPA5. Interacts with DDX39A and DDX39B. Interacts with TUBB/TUBB5 (By similarity). The GTP-bound form interacts (via C-terminus) with THOV P5 protein. The GTP-bound form interacts with LACV protein N. Interacts with CCHFV protein N.By similarity10 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110684, 40 interactors
DIPiDIP-35694N
IntActiP20591, 15 interactors
STRINGi9606.ENSP00000381599

Structurei

Secondary structure

1662
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP20591
SMRiP20591
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP20591

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini67 – 340Dynamin-type GPROSITE-ProRule annotationAdd BLAST274
Domaini574 – 662GEDPROSITE-ProRule annotationAdd BLAST89

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni77 – 84G1 motifPROSITE-ProRule annotation8
Regioni102 – 104G2 motifPROSITE-ProRule annotation3
Regioni178 – 181G3 motifPROSITE-ProRule annotation4
Regioni247 – 250G4 motifPROSITE-ProRule annotation4
Regioni279 – 282G5 motifPROSITE-ProRule annotation4
Regioni341 – 366Bundle signaling element (BSE)Add BLAST26
Regioni366 – 533Middle domainAdd BLAST168
Regioni367 – 632StalkAdd BLAST266
Regioni554 – 557Critical for lipid-binding4

Domaini

The C-terminal GTPase effector domain (GED) is involved in oligomerization and viral target recognition.1 Publication
The middle domain mediates self-assembly and oligomerization.1 Publication

Sequence similaritiesi

Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0446 Eukaryota
COG0699 LUCA
GeneTreeiENSGT00760000119213
HOGENOMiHOG000063238
HOVERGENiHBG008788
InParanoidiP20591
KOiK14754
OMAiKATIPCL
OrthoDBiEOG091G080G
PhylomeDBiP20591
TreeFamiTF331484

Family and domain databases

CDDicd08771 DLP_1, 1 hit
InterProiView protein in InterPro
IPR000375 Dynamin_central
IPR001401 Dynamin_GTPase
IPR019762 Dynamin_GTPase_CS
IPR022812 Dynamin_SF
IPR030381 G_DYNAMIN_dom
IPR003130 GED
IPR020850 GED_dom
IPR027417 P-loop_NTPase
PANTHERiPTHR11566 PTHR11566, 1 hit
PfamiView protein in Pfam
PF01031 Dynamin_M, 1 hit
PF00350 Dynamin_N, 1 hit
PF02212 GED, 1 hit
PRINTSiPR00195 DYNAMIN
SMARTiView protein in SMART
SM00053 DYNc, 1 hit
SM00302 GED, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00410 G_DYNAMIN_1, 1 hit
PS51718 G_DYNAMIN_2, 1 hit
PS51388 GED, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P20591-1) [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
MVVSEVDIAK ADPAAASHPL LLNGDATVAQ KNPGSVAENN LCSQYEEKVR
60 70 80 90 100
PCIDLIDSLR ALGVEQDLAL PAIAVIGDQS SGKSSVLEAL SGVALPRGSG
110 120 130 140 150
IVTRCPLVLK LKKLVNEDKW RGKVSYQDYE IEISDASEVE KEINKAQNAI
160 170 180 190 200
AGEGMGISHE LITLEISSRD VPDLTLIDLP GITRVAVGNQ PADIGYKIKT
210 220 230 240 250
LIKKYIQRQE TISLVVVPSN VDIATTEALS MAQEVDPEGD RTIGILTKPD
260 270 280 290 300
LVDKGTEDKV VDVVRNLVFH LKKGYMIVKC RGQQEIQDQL SLSEALQREK
310 320 330 340 350
IFFENHPYFR DLLEEGKATV PCLAEKLTSE LITHICKSLP LLENQIKETH
360 370 380 390 400
QRITEELQKY GVDIPEDENE KMFFLIDKVN AFNQDITALM QGEETVGEED
410 420 430 440 450
IRLFTRLRHE FHKWSTIIEN NFQEGHKILS RKIQKFENQY RGRELPGFVN
460 470 480 490 500
YRTFETIVKQ QIKALEEPAV DMLHTVTDMV RLAFTDVSIK NFEEFFNLHR
510 520 530 540 550
TAKSKIEDIR AEQEREGEKL IRLHFQMEQI VYCQDQVYRG ALQKVREKEL
560 570 580 590 600
EEEKKKKSWD FGAFQSSSAT DSSMEEIFQH LMAYHQEASK RISSHIPLII
610 620 630 640 650
QFFMLQTYGQ QLQKAMLQLL QDKDTYSWLL KERSDTSDKR KFLKERLARL
660
TQARRRLAQF PG
Length:662
Mass (Da):75,520
Last modified:July 7, 2009 - v4
Checksum:i626A7DD946F89384
GO
Isoform 2 (identifier: P20591-2) [UniParc]FASTAAdd to basket
Also known as: 56-kda, varMxA

The sequence of this isoform differs from the canonical sequence as follows:
     425-662: GHKILSRKIQ...ARRRLAQFPG → GGQQAHLQPH...PRLTTLCPAP

Show »
Length:508
Mass (Da):55,661
Checksum:i4681FED66E2F8C21
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W8T1F8W8T1_HUMAN
Interferon-induced GTP-binding prot...
MX1
639Annotation score:
H9KVC9H9KVC9_HUMAN
Interferon-induced GTP-binding prot...
MX1
201Annotation score:
H9KVC7H9KVC7_HUMAN
Interferon-induced GTP-binding prot...
MX1
197Annotation score:
H9KVC4H9KVC4_HUMAN
Interferon-induced GTP-binding prot...
MX1
77Annotation score:
H9KVD0H9KVD0_HUMAN
Interferon-induced GTP-binding prot...
MX1
68Annotation score:
H9KVD3H9KVD3_HUMAN
Interferon-induced GTP-binding prot...
MX1
35Annotation score:
H9KVC3H9KVC3_HUMAN
Interferon-induced GTP-binding prot...
MX1
25Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti164L → R in AAA36337 (PubMed:2481229).Curated1
Sequence conflicti250D → G in BAG53272 (PubMed:20603636).Curated1
Sequence conflicti297Q → H in BAG37852 (PubMed:20603636).Curated1
Sequence conflicti299E → G in BAG53272 (PubMed:20603636).Curated1
Sequence conflicti582M → I in BAG37852 (PubMed:20603636).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058010379V → I6 PublicationsCorresponds to variant dbSNP:rs469390Ensembl.1
Natural variantiVAR_034116381A → V. Corresponds to variant dbSNP:rs34717738Ensembl.1
Natural variantiVAR_034117611Q → H. Corresponds to variant dbSNP:rs2230454Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042904425 – 662GHKIL…AQFPG → GGQQAHLQPHPFDHPVLHAP DVRPAASEGHAAAPAGQGHL QLAPEGAERHQRQAEVPEGA ACTADAGSAPACPVPRLTTL CPAP in isoform 2. 1 PublicationAdd BLAST238

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M30817 mRNA Translation: AAA36337.1
M33882 mRNA Translation: AAA36458.1
AF135187 Genomic DNA Translation: AAD43063.1
AK096355 mRNA Translation: BAG53272.1
AK315465 mRNA Translation: BAG37852.1
AL163285 Genomic DNA Translation: CAB90556.1
AL773577 Genomic DNA No translation available.
AL773578 Genomic DNA No translation available.
AP001610 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09600.1
CH471079 Genomic DNA Translation: EAX09601.1
CH471079 Genomic DNA Translation: EAX09602.1
CH471079 Genomic DNA Translation: EAX09603.1
CH471079 Genomic DNA Translation: EAX09604.1
BC014222 mRNA Translation: AAH14222.2
BC032602 mRNA Translation: AAH32602.1
AY186254 mRNA Translation: AAO31807.1
CCDSiCCDS13673.1 [P20591-1]
CCDS74796.1 [P20591-2]
PIRiA33481
RefSeqiNP_001138397.1, NM_001144925.2 [P20591-1]
NP_001171517.1, NM_001178046.2 [P20591-1]
NP_001269849.1, NM_001282920.1 [P20591-2]
NP_002453.2, NM_002462.4 [P20591-1]
XP_005261035.1, XM_005260978.4 [P20591-1]
XP_005261036.1, XM_005260979.2 [P20591-1]
XP_005261037.1, XM_005260980.2 [P20591-1]
XP_005261038.1, XM_005260981.2 [P20591-1]
XP_005261039.1, XM_005260982.2 [P20591-1]
XP_011527870.1, XM_011529568.2 [P20591-1]
XP_016883838.1, XM_017028349.1 [P20591-1]
XP_016883839.1, XM_017028350.1 [P20591-1]
UniGeneiHs.517307

Genome annotation databases

EnsembliENST00000398598; ENSP00000381599; ENSG00000157601 [P20591-1]
ENST00000398600; ENSP00000381601; ENSG00000157601 [P20591-1]
ENST00000455164; ENSP00000410523; ENSG00000157601 [P20591-1]
ENST00000619682; ENSP00000478441; ENSG00000157601 [P20591-2]
GeneIDi4599
KEGGihsa:4599
UCSCiuc002yzh.5 human [P20591-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M30817 mRNA Translation: AAA36337.1
M33882 mRNA Translation: AAA36458.1
AF135187 Genomic DNA Translation: AAD43063.1
AK096355 mRNA Translation: BAG53272.1
AK315465 mRNA Translation: BAG37852.1
AL163285 Genomic DNA Translation: CAB90556.1
AL773577 Genomic DNA No translation available.
AL773578 Genomic DNA No translation available.
AP001610 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09600.1
CH471079 Genomic DNA Translation: EAX09601.1
CH471079 Genomic DNA Translation: EAX09602.1
CH471079 Genomic DNA Translation: EAX09603.1
CH471079 Genomic DNA Translation: EAX09604.1
BC014222 mRNA Translation: AAH14222.2
BC032602 mRNA Translation: AAH32602.1
AY186254 mRNA Translation: AAO31807.1
CCDSiCCDS13673.1 [P20591-1]
CCDS74796.1 [P20591-2]
PIRiA33481
RefSeqiNP_001138397.1, NM_001144925.2 [P20591-1]
NP_001171517.1, NM_001178046.2 [P20591-1]
NP_001269849.1, NM_001282920.1 [P20591-2]
NP_002453.2, NM_002462.4 [P20591-1]
XP_005261035.1, XM_005260978.4 [P20591-1]
XP_005261036.1, XM_005260979.2 [P20591-1]
XP_005261037.1, XM_005260980.2 [P20591-1]
XP_005261038.1, XM_005260981.2 [P20591-1]
XP_005261039.1, XM_005260982.2 [P20591-1]
XP_011527870.1, XM_011529568.2 [P20591-1]
XP_016883838.1, XM_017028349.1 [P20591-1]
XP_016883839.1, XM_017028350.1 [P20591-1]
UniGeneiHs.517307

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3LJBX-ray2.40A/B366-636[»]
3SZRX-ray3.50A33-662[»]
3ZYSelectron microscopy12.20B/E1-662[»]
4P4SX-ray3.30A70-342[»]
B43-662[»]
4P4TX-ray2.30A37-366[»]
A637-662[»]
4P4UX-ray1.90A37-364[»]
A632-661[»]
5GTMX-ray2.90A/B33-662[»]
ProteinModelPortaliP20591
SMRiP20591
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110684, 40 interactors
DIPiDIP-35694N
IntActiP20591, 15 interactors
STRINGi9606.ENSP00000381599

PTM databases

iPTMnetiP20591
PhosphoSitePlusiP20591

Polymorphism and mutation databases

BioMutaiMX1
DMDMi251757499

Proteomic databases

EPDiP20591
MaxQBiP20591
PaxDbiP20591
PeptideAtlasiP20591
PRIDEiP20591
ProteomicsDBi53763
53764 [P20591-2]

Protocols and materials databases

DNASUi4599
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398598; ENSP00000381599; ENSG00000157601 [P20591-1]
ENST00000398600; ENSP00000381601; ENSG00000157601 [P20591-1]
ENST00000455164; ENSP00000410523; ENSG00000157601 [P20591-1]
ENST00000619682; ENSP00000478441; ENSG00000157601 [P20591-2]
GeneIDi4599
KEGGihsa:4599
UCSCiuc002yzh.5 human [P20591-1]

Organism-specific databases

CTDi4599
DisGeNETi4599
EuPathDBiHostDB:ENSG00000157601.13
GeneCardsiMX1
H-InvDBiHIX0027784
HGNCiHGNC:7532 MX1
HPAiHPA030917
HPA030918
HPA049724
MIMi147150 gene
neXtProtiNX_P20591
OpenTargetsiENSG00000157601
PharmGKBiPA31333
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0446 Eukaryota
COG0699 LUCA
GeneTreeiENSGT00760000119213
HOGENOMiHOG000063238
HOVERGENiHBG008788
InParanoidiP20591
KOiK14754
OMAiKATIPCL
OrthoDBiEOG091G080G
PhylomeDBiP20591
TreeFamiTF331484

Enzyme and pathway databases

ReactomeiR-HSA-1169408 ISG15 antiviral mechanism
R-HSA-909733 Interferon alpha/beta signaling
SIGNORiP20591

Miscellaneous databases

ChiTaRSiMX1 human
EvolutionaryTraceiP20591
GeneWikiiMX1
GenomeRNAii4599
PROiPR:P20591
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157601 Expressed in 223 organ(s), highest expression level in epithelium of bronchus
CleanExiHS_MX1
ExpressionAtlasiP20591 baseline and differential
GenevisibleiP20591 HS

Family and domain databases

CDDicd08771 DLP_1, 1 hit
InterProiView protein in InterPro
IPR000375 Dynamin_central
IPR001401 Dynamin_GTPase
IPR019762 Dynamin_GTPase_CS
IPR022812 Dynamin_SF
IPR030381 G_DYNAMIN_dom
IPR003130 GED
IPR020850 GED_dom
IPR027417 P-loop_NTPase
PANTHERiPTHR11566 PTHR11566, 1 hit
PfamiView protein in Pfam
PF01031 Dynamin_M, 1 hit
PF00350 Dynamin_N, 1 hit
PF02212 GED, 1 hit
PRINTSiPR00195 DYNAMIN
SMARTiView protein in SMART
SM00053 DYNc, 1 hit
SM00302 GED, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00410 G_DYNAMIN_1, 1 hit
PS51718 G_DYNAMIN_2, 1 hit
PS51388 GED, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMX1_HUMAN
AccessioniPrimary (citable) accession number: P20591
Secondary accession number(s): B2RDA5
, B3KU10, C9IYV7, C9J8D6, C9JN19, C9JN88, C9JUL1, C9JZS6, D3DSI8, Q86YP5, Q96CI3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: July 7, 2009
Last modified: November 7, 2018
This is version 178 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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