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Protein

Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial

Gene

SDHD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 carrier 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

Complete GO annotation...

Keywords - Biological processi

Electron transport, Transport, Tricarboxylic acid cycle

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000150781-MONOMER.
ZFISH:ENSG00000150781-MONOMER.
ReactomeiR-HSA-611105. Respiratory electron transport.
R-HSA-71403. Citric acid cycle (TCA cycle).
SIGNORiO14521.
UniPathwayiUPA00223.

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

HGNCiHGNC:10683. SDHD.

Subcellular locationi

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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial envelope Source: ProtInc
  • mitochondrial inner membrane Source: UniProtKB
  • mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) Source: UniProtKB
  • mitochondrion Source: ProtInc
Complete GO annotation...

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_01003881P → L in PGL1 and pheochromocytoma. 3 PublicationsCorresponds to variant rs80338844dbSNPEnsembl.1
Natural variantiVAR_01003992D → Y in PGL1 and pheochromocytoma. 4 PublicationsCorresponds to variant rs80338845dbSNPEnsembl.1
Natural variantiVAR_01851993Missing in PGL1. 1 Publication1
Natural variantiVAR_010040102H → L in PGL1. 1 PublicationCorresponds to variant rs104894302dbSNPEnsembl.1
Natural variantiVAR_017872114Y → C in PGL1. 2 PublicationsCorresponds to variant rs104894304dbSNPEnsembl.1
Natural variantiVAR_017873139L → P in PGL1. 1 PublicationCorresponds to variant rs80338847dbSNPEnsembl.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
Intestinal carcinoid tumor (ICT)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA yellow, well-differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract.
See also OMIM:114900
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
Cowden syndrome 3 (CWS3)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.
See also OMIM:615106
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 rs202198133dbSNPEnsembl.1
Natural variantiVAR_07410692D → G in MT-C2D; results in highly reduced protein expression; results in impaired cellular respiration. 1 PublicationCorresponds to variant rs786205436dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6392.
MalaCardsiSDHD.
MIMi114900. phenotype.
168000. phenotype.
171300. phenotype.
252011. phenotype.
606864. phenotype.
615106. phenotype.
OpenTargetsiENSG00000204370.
Orphaneti100093. Carcinoid tumor and carcinoid syndrome.
97286. Carney-Stratakis syndrome.
201. Cowden syndrome.
29072. Hereditary pheochromocytoma-paraganglioma.
3208. Isolated succinate-CoQ reductase deficiency.
PharmGKBiPA35608.

Chemistry databases

DrugBankiDB00756. Hexachlorophene.
DB00139. Succinic acid.

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.
TopDownProteomicsiO14521-1. [O14521-1]

PTM databases

SwissPalmiO14521.

Expressioni

Gene expression databases

BgeeiENSG00000204370.
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. 1 interactor.
IntActiO14521. 2 interactors.
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.
OMAiPCSAVDY.
OrthoDBiEOG091G0RHX.
PhylomeDBiO14521.
TreeFamiTF313310.

Family and domain databases

CDDicd03496. SQR_TypeC_CybS. 1 hit.
InterProiIPR007992. CybS.
[Graphical view]
PANTHERiPTHR13337. PTHR13337. 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

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

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; may be associated with Cowden syndrome; 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 rs34677591dbSNPEnsembl.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; may be associated with Cowden syndrome; 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 rs11214077dbSNPEnsembl.1
Natural variantiVAR_07410569E → K in MT-C2D; results in impaired mitochondrial complex II assembly; results in impaired cellular respiration. 1 PublicationCorresponds to variant rs202198133dbSNPEnsembl.1
Natural variantiVAR_01003881P → L in PGL1 and pheochromocytoma. 3 PublicationsCorresponds to variant rs80338844dbSNPEnsembl.1
Natural variantiVAR_07410692D → G in MT-C2D; results in highly reduced protein expression; results in impaired cellular respiration. 1 PublicationCorresponds to variant rs786205436dbSNPEnsembl.1
Natural variantiVAR_01003992D → Y in PGL1 and pheochromocytoma. 4 PublicationsCorresponds to variant rs80338845dbSNPEnsembl.1
Natural variantiVAR_01851993Missing in PGL1. 1 Publication1
Natural variantiVAR_010040102H → L in PGL1. 1 PublicationCorresponds to variant rs104894302dbSNPEnsembl.1
Natural variantiVAR_017872114Y → C in PGL1. 2 PublicationsCorresponds to variant rs104894304dbSNPEnsembl.1
Natural variantiVAR_017873139L → P in PGL1. 1 PublicationCorresponds to variant rs80338847dbSNPEnsembl.1
Natural variantiVAR_054384145H → N Found in an individual with features of Cowden syndrome; 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 rs11214077dbSNPEnsembl.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

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. 1 interactor.
IntActiO14521. 2 interactors.
STRINGi9606.ENSP00000364699.

Chemistry databases

DrugBankiDB00756. Hexachlorophene.
DB00139. Succinic acid.

PTM databases

SwissPalmiO14521.

Proteomic databases

EPDiO14521.
MaxQBiO14521.
PaxDbiO14521.
PeptideAtlasiO14521.
PRIDEiO14521.
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.
GeneCardsiSDHD.
GeneReviewsiSDHD.
H-InvDBHIX0029526.
HGNCiHGNC:10683. SDHD.
HPAiHPA045727.
MalaCardsiSDHD.
MIMi114900. phenotype.
168000. phenotype.
171300. phenotype.
252011. phenotype.
602690. gene.
606864. phenotype.
615106. phenotype.
neXtProtiNX_O14521.
OpenTargetsiENSG00000204370.
Orphaneti100093. Carcinoid tumor and carcinoid syndrome.
97286. Carney-Stratakis syndrome.
201. Cowden syndrome.
29072. Hereditary pheochromocytoma-paraganglioma.
3208. Isolated succinate-CoQ reductase deficiency.
PharmGKBiPA35608.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00223.
BioCyciMetaCyc:ENSG00000150781-MONOMER.
ZFISH:ENSG00000150781-MONOMER.
ReactomeiR-HSA-611105. Respiratory electron transport.
R-HSA-71403. Citric acid cycle (TCA cycle).
SIGNORiO14521.

Miscellaneous databases

ChiTaRSiSDHD. human.
GeneWikiiSDHD.
GenomeRNAii6392.
PROiO14521.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204370.
CleanExiHS_SDHD.
ExpressionAtlasiO14521. baseline and differential.
GenevisibleiO14521. HS.

Family and domain databases

CDDicd03496. SQR_TypeC_CybS. 1 hit.
InterProiIPR007992. CybS.
[Graphical view]
PANTHERiPTHR13337. PTHR13337. 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 historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: January 1, 1998
Last modified: November 30, 2016
This is version 180 of the entry and version 1 of the sequence. [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. Human chromosome 11
    Human chromosome 11: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.