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Protein

Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial

Gene

SDHD

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

Functioni

Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).By similarity

Pathwayi: tricarboxylic acid cycle

This protein is involved in the pathway tricarboxylic acid cycle, which is part of Carbohydrate metabolism.
View all proteins of this organism that are known to be involved in the pathway tricarboxylic acid cycle and in Carbohydrate metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi102Iron (heme axial ligand); shared with SDHCBy similarity1
Binding sitei114Ubiquinone; shared with IP/SDHBBy similarity1

GO - Molecular functioni

  • electron transfer activity Source: UniProtKB
  • heme binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • succinate dehydrogenase activity Source: UniProtKB
  • ubiquinone binding Source: UniProtKB

GO - Biological processi

  • mitochondrial electron transport, succinate to ubiquinone Source: GO_Central
  • tricarboxylic acid cycle Source: UniProtKB

Keywordsi

Biological processElectron transport, Transport, Tricarboxylic acid cycle
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000150781-MONOMER
ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-71403 Citric acid cycle (TCA cycle)
SIGNORiO14521
UniPathwayi
UPA00223

Names & Taxonomyi

Protein namesi
Recommended name:
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Short name:
CybS
Alternative name(s):
CII-4
QPs3
Succinate dehydrogenase complex subunit D
Succinate-ubiquinone oxidoreductase cytochrome b small subunit
Succinate-ubiquinone reductase membrane anchor subunit
Gene namesi
Name:SDHD
Synonyms:SDH4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000204370.8
HGNCiHGNC:10683 SDHD
MIMi602690 gene
neXtProtiNX_O14521

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini57 – 63Mitochondrial matrixBy similarity7
Transmembranei64 – 85HelicalBy similarityAdd BLAST22
Topological domaini86 – 90Mitochondrial intermembraneBy similarity5
Transmembranei91 – 111HelicalBy similarityAdd BLAST21
Topological domaini112 – 120Mitochondrial matrixBy similarity9
Transmembranei121 – 142HelicalBy similarityAdd BLAST22
Topological domaini143 – 159Mitochondrial intermembraneBy similarityAdd BLAST17

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Paragangliomas 1 (PGL1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors.
See also OMIM:168000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01851993Missing in PGL1. 1 Publication1
Natural variantiVAR_010040102H → L in PGL1. 1 PublicationCorresponds to variant dbSNP:rs104894302EnsemblClinVar.1
Natural variantiVAR_017872114Y → C in PGL1. 2 PublicationsCorresponds to variant dbSNP:rs104894304EnsemblClinVar.1
Natural variantiVAR_017873139L → P in PGL1. 1 PublicationCorresponds to variant dbSNP:rs80338847EnsemblClinVar.1
Natural variantiVAR_054385148G → V in PGL1. 1 Publication1
Pheochromocytoma (PCC)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
See also OMIM:171300
Paraganglioma and gastric stromal sarcoma (PGGSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionGastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance.
See also OMIM:606864
Mitochondrial complex II deficiency (MT-C2D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome.
See also OMIM:252011
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07410569E → K in MT-C2D; results in impaired mitochondrial complex II assembly; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs202198133EnsemblClinVar.1
Natural variantiVAR_07410692D → G in MT-C2D; results in highly reduced protein expression; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs786205436EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi6392
GeneReviewsiSDHD
MalaCardsiSDHD
MIMi168000 phenotype
171300 phenotype
252011 phenotype
606864 phenotype
OpenTargetsiENSG00000204370
Orphaneti100093 Carcinoid syndrome
97286 Carney-Stratakis syndrome
201 Cowden syndrome
29072 Hereditary pheochromocytoma-paraganglioma
3208 Isolated succinate-CoQ reductase deficiency
276624 Sporadic pheochromocytoma
PharmGKBiPA35608

Chemistry databases

DrugBankiDB00756 Hexachlorophene
DB00139 Succinic acid
DB08689 UBIQUINONE-1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 56MitochondrionSequence analysisAdd BLAST56
ChainiPRO_000000648757 – 159Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrialAdd BLAST103

Proteomic databases

EPDiO14521
MaxQBiO14521
PaxDbiO14521
PeptideAtlasiO14521
PRIDEiO14521
ProteomicsDBi48064
TopDownProteomicsiO14521-1 [O14521-1]

PTM databases

SwissPalmiO14521

Expressioni

Gene expression databases

BgeeiENSG00000204370 Expressed in 230 organ(s), highest expression level in jejunal mucosa
CleanExiHS_SDHD
ExpressionAtlasiO14521 baseline and differential
GenevisibleiO14521 HS

Organism-specific databases

HPAiHPA045727

Interactioni

Subunit structurei

Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD.

Protein-protein interaction databases

BioGridi112293, 11 interactors
ComplexPortaliCPX-561 Mitochondrial respiratory chain complex II
IntActiO14521, 4 interactors
MINTiO14521
STRINGi9606.ENSP00000364699

Structurei

3D structure databases

ProteinModelPortaliO14521
SMRiO14521
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CybS family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4097 Eukaryota
ENOG4111RTW LUCA
GeneTreeiENSGT00390000010003
HOGENOMiHOG000290645
HOVERGENiHBG003003
InParanoidiO14521
KOiK00237
OMAiKLERLWA
OrthoDBiEOG091G0RHX
PhylomeDBiO14521
TreeFamiTF313310

Family and domain databases

CDDicd03496 SQR_TypeC_CybS, 1 hit
Gene3Di1.20.1300.10, 1 hit
InterProiView protein in InterPro
IPR007992 CybS
IPR034804 SQR/QFR_C/D
PANTHERiPTHR13337 PTHR13337, 1 hit
SUPFAMiSSF81343 SSF81343, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14521-1) [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
MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH
60 70 80 90 100
LSPSHHSGSK AASLHWTSER VVSVLLLGLL PAAYLNPCSA MDYSLAAALT
110 120 130 140 150
LHGHWGLGQV VTDYVHGDAL QKAAKAGLLA LSALTFAGLC YFNYHDVGIC

KAVAMLWKL
Length:159
Mass (Da):17,043
Last modified:January 1, 1998 - v1
Checksum:i6B1AA94831C8C3B6
GO
Isoform 2 (identifier: O14521-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     19-57: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:120
Mass (Da):12,615
Checksum:i697849862CBB23D2
GO
Isoform 3 (identifier: O14521-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     56-158: HSGSKAASLH...ICKAVAMLWK → HWALDKLLLTMFMGMPCRKLPRQGFWHFQ

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:85
Mass (Da):9,720
Checksum:i590AF9A98DD8AE76
GO
Isoform 4 (identifier: O14521-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     106-143: GLGQVVTDYV...LTFAGLCYFN → LECNGAILAR...QAILLPQPPK
     144-159: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:143
Mass (Da):15,361
Checksum:iE348643A604EDC0F
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PK73E9PK73_HUMAN
Succinate dehydrogenase [ubiquinone...
SDHD
131Annotation score:
G3V173G3V173_HUMAN
Succinate dehydrogenase [ubiquinone...
SDHD hCG_2032955
104Annotation score:
H0YD41H0YD41_HUMAN
Succinate dehydrogenase [ubiquinone...
SDHD
101Annotation score:
H0YD96H0YD96_HUMAN
Succinate dehydrogenase [ubiquinone...
SDHD
55Annotation score:
A0A1W2PNY0A0A1W2PNY0_HUMAN
Succinate dehydrogenase [ubiquinone...
SDHD
72Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti74V → F in AAH70307 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01787012G → S Polymorphism that may increase susceptibility for developing pheochromocytoma, paraganglioma, intestinal carcinoid tumor and breast, renal and uterus carcinoma; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with 1.9-fold increase in both AKT and MAPK expression. 7 PublicationsCorresponds to variant dbSNP:rs34677591EnsemblClinVar.1
Natural variantiVAR_01787150H → R Polymorphism that may increase susceptibility for developing paraganglioma, breast and thyroid carcinoma; may be involved in somatic Merkel cell carcinoma; associated with increased manganese superoxide dismutase expression; associated with increased reactive oxygen species; associated with a 2.0-fold increase in AKT expression and a 1.7-fold increase in MAPK expression. 4 PublicationsCorresponds to variant dbSNP:rs11214077EnsemblClinVar.1
Natural variantiVAR_07410569E → K in MT-C2D; results in impaired mitochondrial complex II assembly; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs202198133EnsemblClinVar.1
Natural variantiVAR_01003881P → L in PGL1 and pheochromocytoma. 3 PublicationsCorresponds to variant dbSNP:rs80338844EnsemblClinVar.1
Natural variantiVAR_07410692D → G in MT-C2D; results in highly reduced protein expression; results in impaired cellular respiration. 1 PublicationCorresponds to variant dbSNP:rs786205436EnsemblClinVar.1
Natural variantiVAR_01003992D → Y in PGL1 and pheochromocytoma. 4 PublicationsCorresponds to variant dbSNP:rs80338845EnsemblClinVar.1
Natural variantiVAR_01851993Missing in PGL1. 1 Publication1
Natural variantiVAR_010040102H → L in PGL1. 1 PublicationCorresponds to variant dbSNP:rs104894302EnsemblClinVar.1
Natural variantiVAR_017872114Y → C in PGL1. 2 PublicationsCorresponds to variant dbSNP:rs104894304EnsemblClinVar.1
Natural variantiVAR_017873139L → P in PGL1. 1 PublicationCorresponds to variant dbSNP:rs80338847EnsemblClinVar.1
Natural variantiVAR_054384145H → N Found in an individual with features of Cowden syndrome; unknown pathological significance; associated with increased manganese superoxide dismutase expression; associated with normal reactive oxygen species; associated with no change in AKT expression but a 1.2-fold increase of MAPK expression. 1 PublicationCorresponds to variant dbSNP:rs121908984EnsemblClinVar.1
Natural variantiVAR_054385148G → V in PGL1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05474419 – 57Missing in isoform 2. CuratedAdd BLAST39
Alternative sequenceiVSP_05474556 – 158HSGSK…AMLWK → HWALDKLLLTMFMGMPCRKL PRQGFWHFQ in isoform 3. CuratedAdd BLAST103
Alternative sequenceiVSP_054746106 – 143GLGQV…LCYFN → LECNGAILARHDLGSARSQL TATSAFRVQAILLPQPPK in isoform 4. CuratedAdd BLAST38
Alternative sequenceiVSP_054747144 – 159Missing in isoform 4. CuratedAdd BLAST16

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006202 mRNA Translation: BAA22054.1
AB026906 Genomic DNA Translation: BAA81889.1
AK075360 mRNA Translation: BAG52120.1
BT007238 mRNA Translation: AAP35902.1
CR456932 mRNA Translation: CAG33213.1
AP002007 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW67181.1
BC005263 mRNA Translation: AAH05263.1
BC009574 mRNA Translation: AAH09574.1
BC012603 mRNA Translation: AAH12603.1
BC015188 mRNA Translation: AAH15188.1
BC015992 mRNA Translation: AAH15992.1
BC022350 mRNA Translation: AAH22350.1
BC070307 mRNA Translation: AAH70307.1
BC071755 mRNA Translation: AAH71755.1
BC071756 mRNA Translation: AAH71756.1
CCDSiCCDS31678.1 [O14521-1]
CCDS60958.1 [O14521-4]
CCDS60959.1 [O14521-3]
CCDS60960.1 [O14521-2]
RefSeqiNP_001263432.1, NM_001276503.1 [O14521-3]
NP_001263433.1, NM_001276504.1 [O14521-2]
NP_001263435.1, NM_001276506.1 [O14521-4]
NP_002993.1, NM_003002.3 [O14521-1]
UniGeneiHs.356270
Hs.744039

Genome annotation databases

EnsembliENST00000375549; ENSP00000364699; ENSG00000204370 [O14521-1]
ENST00000525291; ENSP00000436669; ENSG00000204370 [O14521-2]
ENST00000526592; ENSP00000432005; ENSG00000204370 [O14521-4]
ENST00000528048; ENSP00000436217; ENSG00000204370 [O14521-3]
ENST00000614349; ENSP00000480666; ENSG00000204370 [O14521-4]
GeneIDi6392
KEGGihsa:6392
UCSCiuc001pmz.5 human [O14521-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Wikipedia

SDHD entry

TCA Cycle Gene Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB006202 mRNA Translation: BAA22054.1
AB026906 Genomic DNA Translation: BAA81889.1
AK075360 mRNA Translation: BAG52120.1
BT007238 mRNA Translation: AAP35902.1
CR456932 mRNA Translation: CAG33213.1
AP002007 Genomic DNA No translation available.
CH471065 Genomic DNA Translation: EAW67181.1
BC005263 mRNA Translation: AAH05263.1
BC009574 mRNA Translation: AAH09574.1
BC012603 mRNA Translation: AAH12603.1
BC015188 mRNA Translation: AAH15188.1
BC015992 mRNA Translation: AAH15992.1
BC022350 mRNA Translation: AAH22350.1
BC070307 mRNA Translation: AAH70307.1
BC071755 mRNA Translation: AAH71755.1
BC071756 mRNA Translation: AAH71756.1
CCDSiCCDS31678.1 [O14521-1]
CCDS60958.1 [O14521-4]
CCDS60959.1 [O14521-3]
CCDS60960.1 [O14521-2]
RefSeqiNP_001263432.1, NM_001276503.1 [O14521-3]
NP_001263433.1, NM_001276504.1 [O14521-2]
NP_001263435.1, NM_001276506.1 [O14521-4]
NP_002993.1, NM_003002.3 [O14521-1]
UniGeneiHs.356270
Hs.744039

3D structure databases

ProteinModelPortaliO14521
SMRiO14521
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112293, 11 interactors
ComplexPortaliCPX-561 Mitochondrial respiratory chain complex II
IntActiO14521, 4 interactors
MINTiO14521
STRINGi9606.ENSP00000364699

Chemistry databases

DrugBankiDB00756 Hexachlorophene
DB00139 Succinic acid
DB08689 UBIQUINONE-1

PTM databases

SwissPalmiO14521

Proteomic databases

EPDiO14521
MaxQBiO14521
PaxDbiO14521
PeptideAtlasiO14521
PRIDEiO14521
ProteomicsDBi48064
TopDownProteomicsiO14521-1 [O14521-1]

Protocols and materials databases

DNASUi6392
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375549; ENSP00000364699; ENSG00000204370 [O14521-1]
ENST00000525291; ENSP00000436669; ENSG00000204370 [O14521-2]
ENST00000526592; ENSP00000432005; ENSG00000204370 [O14521-4]
ENST00000528048; ENSP00000436217; ENSG00000204370 [O14521-3]
ENST00000614349; ENSP00000480666; ENSG00000204370 [O14521-4]
GeneIDi6392
KEGGihsa:6392
UCSCiuc001pmz.5 human [O14521-1]

Organism-specific databases

CTDi6392
DisGeNETi6392
EuPathDBiHostDB:ENSG00000204370.8
GeneCardsiSDHD
GeneReviewsiSDHD
H-InvDBiHIX0029526
HGNCiHGNC:10683 SDHD
HPAiHPA045727
MalaCardsiSDHD
MIMi168000 phenotype
171300 phenotype
252011 phenotype
602690 gene
606864 phenotype
neXtProtiNX_O14521
OpenTargetsiENSG00000204370
Orphaneti100093 Carcinoid syndrome
97286 Carney-Stratakis syndrome
201 Cowden syndrome
29072 Hereditary pheochromocytoma-paraganglioma
3208 Isolated succinate-CoQ reductase deficiency
276624 Sporadic pheochromocytoma
PharmGKBiPA35608
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4097 Eukaryota
ENOG4111RTW LUCA
GeneTreeiENSGT00390000010003
HOGENOMiHOG000290645
HOVERGENiHBG003003
InParanoidiO14521
KOiK00237
OMAiKLERLWA
OrthoDBiEOG091G0RHX
PhylomeDBiO14521
TreeFamiTF313310

Enzyme and pathway databases

UniPathwayi
UPA00223

BioCyciMetaCyc:ENSG00000150781-MONOMER
ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-71403 Citric acid cycle (TCA cycle)
SIGNORiO14521

Miscellaneous databases

ChiTaRSiSDHD human
GeneWikiiSDHD
GenomeRNAii6392
PROiPR:O14521
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204370 Expressed in 230 organ(s), highest expression level in jejunal mucosa
CleanExiHS_SDHD
ExpressionAtlasiO14521 baseline and differential
GenevisibleiO14521 HS

Family and domain databases

CDDicd03496 SQR_TypeC_CybS, 1 hit
Gene3Di1.20.1300.10, 1 hit
InterProiView protein in InterPro
IPR007992 CybS
IPR034804 SQR/QFR_C/D
PANTHERiPTHR13337 PTHR13337, 1 hit
SUPFAMiSSF81343 SSF81343, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDHSD_HUMAN
AccessioniPrimary (citable) accession number: O14521
Secondary accession number(s): A6ND90
, B3KQQ8, E9PIC0, E9PIG3, E9PQI9, Q53XW5, Q6IRW2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 1, 1998
Last modified: November 7, 2018
This is version 194 of the entry and version 1 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

Complete proteome, 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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