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UniProtKB - P22314 (UBA1_HUMAN)

Protein

Ubiquitin-like modifier-activating enzyme 1

Gene

UBA1

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

Functioni

Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1606621, PubMed:1447181). Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP (PubMed:1447181). Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites (PubMed:22456334).3 Publications

Miscellaneous

There are two active sites within the E1 molecule, allowing it to accommodate two ubiquitin moieties at a time, with a new ubiquitin forming an adenylate intermediate as the previous one is transferred to the thiol site.By similarity

Catalytic activityi

ATP + ubiquitin + [E1 ubiquitin-activating enzyme]-L-cysteine = AMP + diphosphate + S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine.1 Publication

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.2 Publications
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei478ATP; via amide nitrogenBy similarity1
Binding sitei504ATPBy similarity1
Binding sitei515ATPBy similarity1
Binding sitei528ATPBy similarity1
Active sitei632Glycyl thioester intermediatePROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi576 – 577ATPBy similarity2

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • RNA binding Source: UniProtKB
  • ubiquitin activating enzyme activity Source: MGI
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionLigase
Biological processUbl conjugation pathway
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS05465-MONOMER
BRENDAi2.3.2.B5 2681
6.2.1.B9 2681
ReactomeiR-HSA-8866652 Synthesis of active ubiquitin: roles of E1 and E2 enzymes
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SIGNORiP22314
UniPathwayi
UPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquitin-like modifier-activating enzyme 1 (EC:6.2.1.451 Publication)
Alternative name(s):
Protein A1S9
Ubiquitin-activating enzyme E1
Gene namesi
Name:UBA1
Synonyms:A1S9T, UBE1
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 X

Organism-specific databases

EuPathDBiHostDB:ENSG00000130985.16
HGNCiHGNC:12469 UBA1
MIMi314370 gene
neXtProtiNX_P22314

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, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinal muscular atrophy X-linked 2 (SMAX2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures.
See also OMIM:301830
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043501539M → I in SMAX2. 1 PublicationCorresponds to variant dbSNP:rs80356545EnsemblClinVar.1
Natural variantiVAR_043502547S → G in SMAX2. 1 PublicationCorresponds to variant dbSNP:rs80356546EnsemblClinVar.1
Natural variantiVAR_071121557E → V in SMAX2. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi4S → A: Reduces phosphorylation. 1 Publication1
Mutagenesisi8 – 11KKRR → AAAA: Loss of nuclear localization and a 90-95% decrease in the phosphorylation. 1 Publication4

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi7317
GeneReviewsiUBA1
MalaCardsiUBA1
MIMi301830 phenotype
OpenTargetsiENSG00000130985
Orphaneti1145 X-linked distal arthrogryposis multiplex congenita
PharmGKBiPA37119

Chemistry databases

ChEMBLiCHEMBL5924
DrugBankiDB04119 Hexatantalum Dodecabromide

Polymorphism and mutation databases

BioMutaiUBA1
DMDMi24418865

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001949342 – 1058Ubiquitin-like modifier-activating enzyme 1Add BLAST1057
Isoform 2 (identifier: P22314-2)
Initiator methionineiRemovedCombined sources

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei4Phosphoserine1 Publication1
Modified residuei13PhosphoserineCombined sources1
Modified residuei21PhosphoserineBy similarity1
Modified residuei24PhosphoserineBy similarity1
Modified residuei46PhosphoserineCombined sources1
Modified residuei55PhosphotyrosineBy similarity1
Modified residuei528N6-succinyllysineBy similarity1
Modified residuei671N6-acetyllysineCombined sources1
Modified residuei800PhosphothreonineCombined sources1
Modified residuei810PhosphoserineCombined sources1
Modified residuei816PhosphoserineBy similarity1
Modified residuei820PhosphoserineCombined sources1
Modified residuei835PhosphoserineCombined sources1
Modified residuei980N6-acetyllysineCombined sources1
Isoform 2 (identifier: P22314-2)
Modified residuei2N-acetylalanineCombined sources1

Post-translational modificationi

ISGylated.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP22314
MaxQBiP22314
PaxDbiP22314
PeptideAtlasiP22314
PRIDEiP22314
ProteomicsDBi53983

2D gel databases

REPRODUCTION-2DPAGEiIPI00645078

PTM databases

iPTMnetiP22314
PhosphoSitePlusiP22314
SwissPalmiP22314

Expressioni

Tissue specificityi

Detected in erythrocytes (at protein level). Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000130985 Expressed in 243 organ(s), highest expression level in pituitary gland
CleanExiHS_UBA1
ExpressionAtlasiP22314 baseline and differential
GenevisibleiP22314 HS

Organism-specific databases

HPAiCAB019435
CAB073410
HPA000289
HPA001506

Interactioni

Subunit structurei

Monomer (By similarity). Interacts with GAN (via BTB domain).By similarity1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi113165, 150 interactors
DIPiDIP-33686N
IntActiP22314, 137 interactors
MINTiP22314
STRINGi9606.ENSP00000338413

Chemistry databases

BindingDBiP22314

Structurei

Secondary structure

11058
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP22314
SMRiP22314
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati63 – 1991-1Add BLAST137
Repeati459 – 6111-2Add BLAST153

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni63 – 6112 approximate repeatsAdd BLAST549

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi5 – 11Nuclear localization signal7

Domaini

The first 11 amino acids are essential for phosphorylation and exclusive nuclear localization.

Sequence similaritiesi

Belongs to the ubiquitin-activating E1 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2012 Eukaryota
COG0476 LUCA
GeneTreeiENSGT00390000016689
HOGENOMiHOG000167329
HOVERGENiHBG054199
InParanoidiP22314
KOiK03178
OMAiLKNWSMM
OrthoDBiEOG091G0130
PhylomeDBiP22314
TreeFamiTF300586

Family and domain databases

Gene3Di3.10.290.60, 1 hit
InterProiView protein in InterPro
IPR032420 E1_4HB
IPR032418 E1_FCCH
IPR000594 ThiF_NAD_FAD-bd
IPR018965 Ub-activating_enz_E1_C
IPR038252 UBA_E1_C_sf
IPR019572 UBA_E1_Cys
IPR035985 Ubiquitin-activating_enz
IPR018075 UBQ-activ_enz_E1
IPR018074 UBQ-activ_enz_E1_CS
IPR033127 UBQ-activ_enz_E1_Cys_AS
IPR000011 UBQ/SUMO-activ_enz_E1-like
PfamiView protein in Pfam
PF16191 E1_4HB, 1 hit
PF16190 E1_FCCH, 1 hit
PF09358 E1_UFD, 1 hit
PF00899 ThiF, 2 hits
PF10585 UBA_e1_thiolCys, 1 hit
PRINTSiPR01849 UBIQUITINACT
SMARTiView protein in SMART
SM00985 UBA_e1_C, 1 hit
SUPFAMiSSF69572 SSF69572, 2 hits
TIGRFAMsiTIGR01408 Ube1, 1 hit
PROSITEiView protein in PROSITE
PS00536 UBIQUITIN_ACTIVAT_1, 1 hit
PS00865 UBIQUITIN_ACTIVAT_2, 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 initiation. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P22314-1) [UniParc]FASTAAdd to basket
Also known as: E1a

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
MSSSPLSKKR RVSGPDPKPG SNCSPAQSVL SEVPSVPTNG MAKNGSEADI 
        60         70         80         90        100
DEGLYSRQLY VLGHEAMKRL QTSSVLVSGL RGLGVEIAKN IILGGVKAVT 
       110        120        130        140        150
LHDQGTAQWA DLSSQFYLRE EDIGKNRAEV SQPRLAELNS YVPVTAYTGP 
       160        170        180        190        200
LVEDFLSGFQ VVVLTNTPLE DQLRVGEFCH NRGIKLVVAD TRGLFGQLFC 
       210        220        230        240        250
DFGEEMILTD SNGEQPLSAM VSMVTKDNPG VVTCLDEARH GFESGDFVSF 
       260        270        280        290        300
SEVQGMVELN GNQPMEIKVL GPYTFSICDT SNFSDYIRGG IVSQVKVPKK 
       310        320        330        340        350
ISFKSLVASL AEPDFVVTDF AKFSRPAQLH IGFQALHQFC AQHGRPPRPR 
       360        370        380        390        400
NEEDAAELVA LAQAVNARAL PAVQQNNLDE DLIRKLAYVA AGDLAPINAF 
       410        420        430        440        450
IGGLAAQEVM KACSGKFMPI MQWLYFDALE CLPEDKEVLT EDKCLQRQNR 
       460        470        480        490        500
YDGQVAVFGS DLQEKLGKQK YFLVGAGAIG CELLKNFAMI GLGCGEGGEI 
       510        520        530        540        550
IVTDMDTIEK SNLNRQFLFR PWDVTKLKSD TAAAAVRQMN PHIRVTSHQN 
       560        570        580        590        600
RVGPDTERIY DDDFFQNLDG VANALDNVDA RMYMDRRCVY YRKPLLESGT 
       610        620        630        640        650
LGTKGNVQVV IPFLTESYSS SQDPPEKSIP ICTLKNFPNA IEHTLQWARD 
       660        670        680        690        700
EFEGLFKQPA ENVNQYLTDP KFVERTLRLA GTQPLEVLEA VQRSLVLQRP 
       710        720        730        740        750
QTWADCVTWA CHHWHTQYSN NIRQLLHNFP PDQLTSSGAP FWSGPKRCPH 
       760        770        780        790        800
PLTFDVNNPL HLDYVMAAAN LFAQTYGLTG SQDRAAVATF LQSVQVPEFT 
       810        820        830        840        850
PKSGVKIHVS DQELQSANAS VDDSRLEELK ATLPSPDKLP GFKMYPIDFE 
       860        870        880        890        900
KDDDSNFHMD FIVAASNLRA ENYDIPSADR HKSKLIAGKI IPAIATTTAA 
       910        920        930        940        950
VVGLVCLELY KVVQGHRQLD SYKNGFLNLA LPFFGFSEPL AAPRHQYYNQ 
       960        970        980        990       1000
EWTLWDRFEV QGLQPNGEEM TLKQFLDYFK TEHKLEITML SQGVSMLYSF 
      1010       1020       1030       1040       1050
FMPAAKLKER LDQPMTEIVS RVSKRKLGRH VRALVLELCC NDESGEDVEV 

PYVRYTIR
Length:1,058
Mass (Da):117,849
Last modified:October 25, 2002 - v3
Checksum:i4B413AAA75FAA562
GO
Isoform 2 (identifier: P22314-2) [UniParc]FASTAAdd to basket
Also known as: E1b

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: Missing.

Show »
Length:1,018
Mass (Da):113,800
Checksum:i9A508347FE29FB19
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JRR6Q5JRR6_HUMAN
Ubiquitin-like modifier-activating ...
UBA1
506Annotation score:
Q5JRS0Q5JRS0_HUMAN
Ubiquitin-like modifier-activating ...
UBA1
284Annotation score:
Q5JRR9Q5JRR9_HUMAN
Ubiquitin-like modifier-activating ...
UBA1
270Annotation score:
Q5JRS3Q5JRS3_HUMAN
Ubiquitin-like modifier-activating ...
UBA1
195Annotation score:
Q5JRS2Q5JRS2_HUMAN
Ubiquitin-like modifier-activating ...
UBA1
234Annotation score:
Q5JRS1Q5JRS1_HUMAN
Ubiquitin-like modifier-activating ...
UBA1
173Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti190D → G in CAA40296 (PubMed:1606621).Curated1
Sequence conflicti434E → Q in CAA40296 (PubMed:1606621).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043500447R → H. Corresponds to variant dbSNP:rs2070169EnsemblClinVar.1
Natural variantiVAR_043501539M → I in SMAX2. 1 PublicationCorresponds to variant dbSNP:rs80356545EnsemblClinVar.1
Natural variantiVAR_043502547S → G in SMAX2. 1 PublicationCorresponds to variant dbSNP:rs80356546EnsemblClinVar.1
Natural variantiVAR_071121557E → V in SMAX2. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0559131 – 40Missing in isoform 2. CuratedAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X56976 mRNA Translation: CAA40296.1
M58028 mRNA Translation: AAA61246.1
AL513366 Genomic DNA No translation available.
CH471164 Genomic DNA Translation: EAW59290.1
BC013041 mRNA Translation: AAH13041.1
X52897 mRNA Translation: CAA37078.1
CCDSiCCDS14275.1 [P22314-1]
PIRiA38564
RefSeqiNP_003325.2, NM_003334.3 [P22314-1]
NP_695012.1, NM_153280.2 [P22314-1]
XP_016885269.1, XM_017029780.1 [P22314-1]
XP_016885270.1, XM_017029781.1 [P22314-1]
UniGeneiHs.533273

Genome annotation databases

EnsembliENST00000335972; ENSP00000338413; ENSG00000130985 [P22314-1]
ENST00000377351; ENSP00000366568; ENSG00000130985 [P22314-1]
GeneIDi7317
KEGGihsa:7317
UCSCiuc004dhj.5 human [P22314-1]

Keywords - Coding sequence diversityi

Alternative initiation, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X56976 mRNA Translation: CAA40296.1
M58028 mRNA Translation: AAA61246.1
AL513366 Genomic DNA No translation available.
CH471164 Genomic DNA Translation: EAW59290.1
BC013041 mRNA Translation: AAH13041.1
X52897 mRNA Translation: CAA37078.1
CCDSiCCDS14275.1 [P22314-1]
PIRiA38564
RefSeqiNP_003325.2, NM_003334.3 [P22314-1]
NP_695012.1, NM_153280.2 [P22314-1]
XP_016885269.1, XM_017029780.1 [P22314-1]
XP_016885270.1, XM_017029781.1 [P22314-1]
UniGeneiHs.533273

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4P22X-ray2.75A/B1-439[»]
ProteinModelPortaliP22314
SMRiP22314
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113165, 150 interactors
DIPiDIP-33686N
IntActiP22314, 137 interactors
MINTiP22314
STRINGi9606.ENSP00000338413

Chemistry databases

BindingDBiP22314
ChEMBLiCHEMBL5924
DrugBankiDB04119 Hexatantalum Dodecabromide

PTM databases

iPTMnetiP22314
PhosphoSitePlusiP22314
SwissPalmiP22314

Polymorphism and mutation databases

BioMutaiUBA1
DMDMi24418865

2D gel databases

REPRODUCTION-2DPAGEiIPI00645078

Proteomic databases

EPDiP22314
MaxQBiP22314
PaxDbiP22314
PeptideAtlasiP22314
PRIDEiP22314
ProteomicsDBi53983

Protocols and materials databases

DNASUi7317
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335972; ENSP00000338413; ENSG00000130985 [P22314-1]
ENST00000377351; ENSP00000366568; ENSG00000130985 [P22314-1]
GeneIDi7317
KEGGihsa:7317
UCSCiuc004dhj.5 human [P22314-1]

Organism-specific databases

CTDi7317
DisGeNETi7317
EuPathDBiHostDB:ENSG00000130985.16
GeneCardsiUBA1
GeneReviewsiUBA1
HGNCiHGNC:12469 UBA1
HPAiCAB019435
CAB073410
HPA000289
HPA001506
MalaCardsiUBA1
MIMi301830 phenotype
314370 gene
neXtProtiNX_P22314
OpenTargetsiENSG00000130985
Orphaneti1145 X-linked distal arthrogryposis multiplex congenita
PharmGKBiPA37119
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2012 Eukaryota
COG0476 LUCA
GeneTreeiENSGT00390000016689
HOGENOMiHOG000167329
HOVERGENiHBG054199
InParanoidiP22314
KOiK03178
OMAiLKNWSMM
OrthoDBiEOG091G0130
PhylomeDBiP22314
TreeFamiTF300586

Enzyme and pathway databases

UniPathwayi
UPA00143

BioCyciMetaCyc:HS05465-MONOMER
BRENDAi2.3.2.B5 2681
6.2.1.B9 2681
ReactomeiR-HSA-8866652 Synthesis of active ubiquitin: roles of E1 and E2 enzymes
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SIGNORiP22314

Miscellaneous databases

ChiTaRSiUBA1 human
GeneWikiiUBA1
GenomeRNAii7317
PROiPR:P22314
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130985 Expressed in 243 organ(s), highest expression level in pituitary gland
CleanExiHS_UBA1
ExpressionAtlasiP22314 baseline and differential
GenevisibleiP22314 HS

Family and domain databases

Gene3Di3.10.290.60, 1 hit
InterProiView protein in InterPro
IPR032420 E1_4HB
IPR032418 E1_FCCH
IPR000594 ThiF_NAD_FAD-bd
IPR018965 Ub-activating_enz_E1_C
IPR038252 UBA_E1_C_sf
IPR019572 UBA_E1_Cys
IPR035985 Ubiquitin-activating_enz
IPR018075 UBQ-activ_enz_E1
IPR018074 UBQ-activ_enz_E1_CS
IPR033127 UBQ-activ_enz_E1_Cys_AS
IPR000011 UBQ/SUMO-activ_enz_E1-like
PfamiView protein in Pfam
PF16191 E1_4HB, 1 hit
PF16190 E1_FCCH, 1 hit
PF09358 E1_UFD, 1 hit
PF00899 ThiF, 2 hits
PF10585 UBA_e1_thiolCys, 1 hit
PRINTSiPR01849 UBIQUITINACT
SMARTiView protein in SMART
SM00985 UBA_e1_C, 1 hit
SUPFAMiSSF69572 SSF69572, 2 hits
TIGRFAMsiTIGR01408 Ube1, 1 hit
PROSITEiView protein in PROSITE
PS00536 UBIQUITIN_ACTIVAT_1, 1 hit
PS00865 UBIQUITIN_ACTIVAT_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiUBA1_HUMAN
AccessioniPrimary (citable) accession number: P22314
Secondary accession number(s): Q5JRR8, Q96E13
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: October 25, 2002
Last modified: October 10, 2018
This is version 211 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, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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