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Protein

Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial

Gene

SUCLA2

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

Functioni

ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA (PubMed:15877282). The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity).UniRule annotation1 Publication

Catalytic activityi

ATP + succinate + CoA = ADP + phosphate + succinyl-CoA.UniRule annotation1 Publication

Cofactori

Mg2+UniRule annotationNote: Binds 1 Mg2+ ion per subunit.UniRule annotation

Pathwayi: tricarboxylic acid cycle

This protein is involved in step 1 of the subpathway that synthesizes succinate from succinyl-CoA (ligase route).UniRule annotation1 Publication
Proteins known to be involved in this subpathway in this organism are:
  1. Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial (SUCLG2), Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2), Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial (SUCLG1), Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial (SUCLG1), Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2), Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2), Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2), Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial (sucD), Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2), Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial (SUCLG1), Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial (SUCLG2), Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2), Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2), Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (sucC), Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial (SUCLG1), Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (SUCLA2)
This subpathway is part of the pathway tricarboxylic acid cycle, which is itself part of Carbohydrate metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes succinate from succinyl-CoA (ligase route), the pathway tricarboxylic acid cycle and in Carbohydrate metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei94Important for substrate specificityUniRule annotation1
Binding sitei98ATPUniRule annotation1
Sitei162Important for substrate specificityUniRule annotation1
Metal bindingi258MagnesiumUniRule annotation1
Metal bindingi272MagnesiumUniRule annotation1
Binding sitei323Substrate; shared with subunit alphaUniRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi105 – 107ATPUniRule annotation3

GO - Molecular functioni

  • ATP binding Source: UniProtKB-UniRule
  • magnesium ion binding Source: UniProtKB-UniRule
  • succinate-CoA ligase (ADP-forming) activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionLigase
Biological processTricarboxylic acid cycle
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000136143-MONOMER
BRENDAi6.2.1.5 2681
ReactomeiR-HSA-71403 Citric acid cycle (TCA cycle)
UniPathwayi
UPA00223;UER00999

Names & Taxonomyi

Protein namesi
Recommended name:
Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrialUniRule annotation (EC:6.2.1.5UniRule annotation1 Publication)
Alternative name(s):
ATP-specific succinyl-CoA synthetase subunit betaUniRule annotation
Short name:
A-SCSUniRule annotation
Succinyl-CoA synthetase beta-A chainUniRule annotation
Short name:
SCS-betaAUniRule annotation
Gene namesi
Name:SUCLA2UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000136143.14
HGNCiHGNC:11448 SUCLA2
MIMi603921 gene
neXtProtiNX_Q9P2R7

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

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial DNA depletion syndrome 5 (MTDPS5)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients.
See also OMIM:612073
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046215118G → R in MTDPS5. 1 PublicationCorresponds to variant dbSNP:rs121908537EnsemblClinVar.1
Natural variantiVAR_070123251D → N in MTDPS5. 1 PublicationCorresponds to variant dbSNP:rs397515462EnsemblClinVar.1
Natural variantiVAR_046216284R → C in MTDPS5. 1 PublicationCorresponds to variant dbSNP:rs121908538EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi8803
GeneReviewsiSUCLA2
MalaCardsiSUCLA2
MIMi612073 phenotype
OpenTargetsiENSG00000136143
Orphaneti1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
PharmGKBiPA36245

Chemistry databases

DrugBankiDB00139 Succinic acid

Polymorphism and mutation databases

BioMutaiSUCLA2
DMDMi94730427

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 52MitochondrionCombined sourcesAdd BLAST52
ChainiPRO_000003335253 – 463Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrialUniRule annotationAdd BLAST411

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei78N6-acetyllysineCombined sources1
Modified residuei84PhosphotyrosineCombined sources1
Modified residuei88N6-acetyllysine; alternateBy similarity1
Modified residuei88N6-succinyllysine; alternateBy similarity1
Modified residuei129N6-acetyllysineBy similarity1
Modified residuei139N6-acetyllysineBy similarity1
Modified residuei143N6-acetyllysineCombined sources1
Modified residuei216N6-acetyllysineBy similarity1
Modified residuei279PhosphoserineBy similarity1
Modified residuei341PhosphothreonineBy similarity1
Modified residuei368N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9P2R7
MaxQBiQ9P2R7
PaxDbiQ9P2R7
PeptideAtlasiQ9P2R7
PRIDEiQ9P2R7
ProteomicsDBi83885
83886 [Q9P2R7-2]

PTM databases

iPTMnetiQ9P2R7
PhosphoSitePlusiQ9P2R7
SwissPalmiQ9P2R7

Expressioni

Tissue specificityi

Widely expressed. Not expressed in liver and lung.1 Publication

Gene expression databases

BgeeiENSG00000136143 Expressed in 241 organ(s), highest expression level in biceps brachii
CleanExiHS_SUCLA2
ExpressionAtlasiQ9P2R7 baseline and differential
GenevisibleiQ9P2R7 HS

Organism-specific databases

HPAiHPA039435
HPA039536
HPA061528

Interactioni

Subunit structurei

Heterodimer of an alpha and a beta subunit. The beta subunit determines specificity for ATP (By similarity). Interacts with ALAS2 (PubMed:14643893).UniRule annotation1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi114331, 59 interactors
CORUMiQ9P2R7
IntActiQ9P2R7, 25 interactors
MINTiQ9P2R7
STRINGi9606.ENSP00000367923

Structurei

Secondary structure

1463
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9P2R7
SMRiQ9P2R7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini61 – 288ATP-graspUniRule annotationAdd BLAST228

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni380 – 382Substrate binding; shared with subunit alphaUniRule annotation3

Sequence similaritiesi

Belongs to the succinate/malate CoA ligase beta subunit family. ATP-specific subunit beta subfamily.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2799 Eukaryota
COG0045 LUCA
GeneTreeiENSGT00390000010170
HOVERGENiHBG055555
InParanoidiQ9P2R7
KOiK01900
OMAiLCMDAKF
OrthoDBiEOG091G07T9
PhylomeDBiQ9P2R7
TreeFamiTF300624

Family and domain databases

Gene3Di3.30.1490.20, 1 hit
3.40.50.261, 1 hit
HAMAPiMF_00558 Succ_CoA_beta, 1 hit
MF_03220 Succ_CoA_betaA_euk, 1 hit
InterProiView protein in InterPro
IPR011761 ATP-grasp
IPR013650 ATP-grasp_succ-CoA_synth-type
IPR013815 ATP_grasp_subdomain_1
IPR005811 CoA_ligase
IPR017866 Succ-CoA_synthase_bsu_CS
IPR034723 Succ_CoA_betaA_euk
IPR005809 Succ_CoA_synthase_bsu
IPR016102 Succinyl-CoA_synth-like
PANTHERiPTHR11815 PTHR11815, 1 hit
PfamiView protein in Pfam
PF08442 ATP-grasp_2, 1 hit
PF00549 Ligase_CoA, 1 hit
PIRSFiPIRSF001554 SucCS_beta, 1 hit
SUPFAMiSSF52210 SSF52210, 1 hit
TIGRFAMsiTIGR01016 sucCoAbeta, 1 hit
PROSITEiView protein in PROSITE
PS50975 ATP_GRASP, 1 hit
PS01217 SUCCINYL_COA_LIG_3, 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 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2R7-1) [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
MAASMFYGRL VAVATLRNHR PRTAQRAAAQ VLGSSGLFNN HGLQVQQQQQ
60 70 80 90 100
RNLSLHEYMS MELLQEAGVS VPKGYVAKSP DEAYAIAKKL GSKDVVIKAQ
110 120 130 140 150
VLAGGRGKGT FESGLKGGVK IVFSPEEAKA VSSQMIGKKL FTKQTGEKGR
160 170 180 190 200
ICNQVLVCER KYPRREYYFA ITMERSFQGP VLIGSSHGGV NIEDVAAESP
210 220 230 240 250
EAIIKEPIDI EEGIKKEQAL QLAQKMGFPP NIVESAAENM VKLYSLFLKY
260 270 280 290 300
DATMIEINPM VEDSDGAVLC MDAKINFDSN SAYRQKKIFD LQDWTQEDER
310 320 330 340 350
DKDAAKANLN YIGLDGNIGC LVNGAGLAMA TMDIIKLHGG TPANFLDVGG
360 370 380 390 400
GATVHQVTEA FKLITSDKKV LAILVNIFGG IMRCDVIAQG IVMAVKDLEI
410 420 430 440 450
KIPVVVRLQG TRVDDAKALI ADSGLKILAC DDLDEAARMV VKLSEIVTLA
460
KQAHVDVKFQ LPI
Length:463
Mass (Da):50,317
Last modified:May 2, 2006 - v3
Checksum:i1E1651728AF3B5CD
GO
Isoform 2 (identifier: Q9P2R7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-47: Missing.

Note: No experimental confirmation available.
Show »
Length:441
Mass (Da):48,040
Checksum:iB0B5E3CA063BEAD1
GO

Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y6Y7A0A2R8Y6Y7_HUMAN
Succinate--CoA ligase [ADP-forming]...
SUCLA2
484Annotation score:
A0A2R8YDQ9A0A2R8YDQ9_HUMAN
Succinate--CoA ligase [ADP-forming]...
SUCLA2
405Annotation score:
Q5T9Q5Q5T9Q5_HUMAN
Succinate--CoA ligase [ADP-forming]...
SUCLA2
298Annotation score:
A0A0U1RQF8A0A0U1RQF8_HUMAN
Succinate--CoA ligase [ADP-forming]...
SUCLA2
191Annotation score:
Q5T9Q8Q5T9Q8_HUMAN
Succinate--CoA ligase [ADP-forming]...
SUCLA2
154Annotation score:
A0A2R8Y5P6A0A2R8Y5P6_HUMAN
Succinate--CoA ligase [ADP-forming]...
SUCLA2
221Annotation score:
A0A2R8Y6E6A0A2R8Y6E6_HUMAN
Succinate--CoA ligase [ADP-forming]...
SUCLA2
224Annotation score:
A0A0U1RQL1A0A0U1RQL1_HUMAN
Succinate--CoA ligase [ADP-forming]...
SUCLA2
80Annotation score:
A0A2R8Y5P4A0A2R8Y5P4_HUMAN
Succinate--CoA ligase [ADP-forming]...
SUCLA2
159Annotation score:
A0A0U1RRI1A0A0U1RRI1_HUMAN
Succinate--CoA ligase [ADP-forming]...
SUCLA2
104Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti40N → D in BAA91939 (PubMed:14702039).Curated1
Sequence conflicti203I → V in BAA91939 (PubMed:14702039).Curated1
Sequence conflicti323N → S in BAA91703 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04621413V → M. Corresponds to variant dbSNP:rs35201084EnsemblClinVar.1
Natural variantiVAR_046215118G → R in MTDPS5. 1 PublicationCorresponds to variant dbSNP:rs121908537EnsemblClinVar.1
Natural variantiVAR_013459199S → T3 PublicationsCorresponds to variant dbSNP:rs7320366EnsemblClinVar.1
Natural variantiVAR_070123251D → N in MTDPS5. 1 PublicationCorresponds to variant dbSNP:rs397515462EnsemblClinVar.1
Natural variantiVAR_046216284R → C in MTDPS5. 1 PublicationCorresponds to variant dbSNP:rs121908538EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00629226 – 47Missing in isoform 2. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB035863 mRNA Translation: BAA92873.1
AK001458 mRNA Translation: BAA91703.1
AK001847 mRNA Translation: BAA91939.1
AK315513 mRNA Translation: BAG37894.1
AL157369 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08777.1
BC027587 mRNA Translation: AAH27587.1
AF058953 mRNA Translation: AAC64396.1
CCDSiCCDS9406.1 [Q9P2R7-1]
RefSeqiNP_003841.1, NM_003850.2 [Q9P2R7-1]
UniGeneiHs.743361

Genome annotation databases

EnsembliENST00000378654; ENSP00000367923; ENSG00000136143 [Q9P2R7-1]
ENST00000643584; ENSP00000494987; ENSG00000136143 [Q9P2R7-1]
ENST00000646932; ENSP00000494360; ENSG00000136143 [Q9P2R7-1]
GeneIDi8803
KEGGihsa:8803
UCSCiuc001vbs.3 human [Q9P2R7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB035863 mRNA Translation: BAA92873.1
AK001458 mRNA Translation: BAA91703.1
AK001847 mRNA Translation: BAA91939.1
AK315513 mRNA Translation: BAG37894.1
AL157369 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08777.1
BC027587 mRNA Translation: AAH27587.1
AF058953 mRNA Translation: AAC64396.1
CCDSiCCDS9406.1 [Q9P2R7-1]
RefSeqiNP_003841.1, NM_003850.2 [Q9P2R7-1]
UniGeneiHs.743361

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6G4QX-ray2.59B52-463[»]
ProteinModelPortaliQ9P2R7
SMRiQ9P2R7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114331, 59 interactors
CORUMiQ9P2R7
IntActiQ9P2R7, 25 interactors
MINTiQ9P2R7
STRINGi9606.ENSP00000367923

Chemistry databases

DrugBankiDB00139 Succinic acid

PTM databases

iPTMnetiQ9P2R7
PhosphoSitePlusiQ9P2R7
SwissPalmiQ9P2R7

Polymorphism and mutation databases

BioMutaiSUCLA2
DMDMi94730427

Proteomic databases

EPDiQ9P2R7
MaxQBiQ9P2R7
PaxDbiQ9P2R7
PeptideAtlasiQ9P2R7
PRIDEiQ9P2R7
ProteomicsDBi83885
83886 [Q9P2R7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378654; ENSP00000367923; ENSG00000136143 [Q9P2R7-1]
ENST00000643584; ENSP00000494987; ENSG00000136143 [Q9P2R7-1]
ENST00000646932; ENSP00000494360; ENSG00000136143 [Q9P2R7-1]
GeneIDi8803
KEGGihsa:8803
UCSCiuc001vbs.3 human [Q9P2R7-1]

Organism-specific databases

CTDi8803
DisGeNETi8803
EuPathDBiHostDB:ENSG00000136143.14
GeneCardsiSUCLA2
GeneReviewsiSUCLA2
HGNCiHGNC:11448 SUCLA2
HPAiHPA039435
HPA039536
HPA061528
MalaCardsiSUCLA2
MIMi603921 gene
612073 phenotype
neXtProtiNX_Q9P2R7
OpenTargetsiENSG00000136143
Orphaneti1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
PharmGKBiPA36245
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2799 Eukaryota
COG0045 LUCA
GeneTreeiENSGT00390000010170
HOVERGENiHBG055555
InParanoidiQ9P2R7
KOiK01900
OMAiLCMDAKF
OrthoDBiEOG091G07T9
PhylomeDBiQ9P2R7
TreeFamiTF300624

Enzyme and pathway databases

UniPathwayi
UPA00223;UER00999

BioCyciMetaCyc:ENSG00000136143-MONOMER
BRENDAi6.2.1.5 2681
ReactomeiR-HSA-71403 Citric acid cycle (TCA cycle)

Miscellaneous databases

ChiTaRSiSUCLA2 human
GeneWikiiSUCLA2
GenomeRNAii8803
PROiPR:Q9P2R7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136143 Expressed in 241 organ(s), highest expression level in biceps brachii
CleanExiHS_SUCLA2
ExpressionAtlasiQ9P2R7 baseline and differential
GenevisibleiQ9P2R7 HS

Family and domain databases

Gene3Di3.30.1490.20, 1 hit
3.40.50.261, 1 hit
HAMAPiMF_00558 Succ_CoA_beta, 1 hit
MF_03220 Succ_CoA_betaA_euk, 1 hit
InterProiView protein in InterPro
IPR011761 ATP-grasp
IPR013650 ATP-grasp_succ-CoA_synth-type
IPR013815 ATP_grasp_subdomain_1
IPR005811 CoA_ligase
IPR017866 Succ-CoA_synthase_bsu_CS
IPR034723 Succ_CoA_betaA_euk
IPR005809 Succ_CoA_synthase_bsu
IPR016102 Succinyl-CoA_synth-like
PANTHERiPTHR11815 PTHR11815, 1 hit
PfamiView protein in Pfam
PF08442 ATP-grasp_2, 1 hit
PF00549 Ligase_CoA, 1 hit
PIRSFiPIRSF001554 SucCS_beta, 1 hit
SUPFAMiSSF52210 SSF52210, 1 hit
TIGRFAMsiTIGR01016 sucCoAbeta, 1 hit
PROSITEiView protein in PROSITE
PS50975 ATP_GRASP, 1 hit
PS01217 SUCCINYL_COA_LIG_3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSUCB1_HUMAN
AccessioniPrimary (citable) accession number: Q9P2R7
Secondary accession number(s): B2RDE7
, O95194, Q5T9Q4, Q5T9Q6, Q9NV21, Q9NVP7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 2, 2006
Last modified: October 10, 2018
This is version 188 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 13
    Human chromosome 13: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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