UniProtKB - P00387 (NB5R3_HUMAN)
Protein
NADH-cytochrome b5 reductase 3
Gene
CYB5R3
Organism
Homo sapiens (Human)
Status
Functioni
Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
Catalytic activityi
- EC:1.6.2.2
Cofactori
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 132 – 147 | FADBy similarityAdd BLAST | 16 | |
Nucleotide bindingi | 171 – 206 | FADBy similarityAdd BLAST | 36 |
GO - Molecular functioni
- ADP binding Source: Ensembl
- AMP binding Source: Ensembl
- cytochrome-b5 reductase activity, acting on NAD(P)H Source: Reactome
- FAD binding Source: UniProtKB
- NAD binding Source: Ensembl
GO - Biological processi
- blood circulation Source: ProtInc
- cholesterol biosynthetic process Source: UniProtKB-KW
- L-ascorbic acid metabolic process Source: Reactome
- neutrophil degranulation Source: Reactome
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism |
Ligand | FAD, Flavoprotein, NAD |
Enzyme and pathway databases
BioCyci | MetaCyc:HS02015-MONOMER |
BRENDAi | 1.6.2.2 2681 |
Reactomei | R-HSA-196836 Vitamin C (ascorbate) metabolism R-HSA-211945 Phase I - Functionalization of compounds R-HSA-6798695 Neutrophil degranulation |
SABIO-RKi | P00387 |
Names & Taxonomyi
Protein namesi | Recommended name: NADH-cytochrome b5 reductase 3 (EC:1.6.2.2)Short name: B5R Short name: Cytochrome b5 reductase Alternative name(s): Diaphorase-1 Cleaved into the following 2 chains: |
Gene namesi | Name:CYB5R3 Synonyms:DIA1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000100243.20 |
HGNCi | HGNC:2873 CYB5R3 |
MIMi | 613213 gene |
neXtProti | NX_P00387 |
Subcellular locationi
Isoform 1 :
Mitochondrion
Endoplasmic reticulum
Cytosol
- hemoglobin complex Source: ProtInc
Endoplasmic reticulum
- endoplasmic reticulum Source: HPA
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Extracellular region or secreted
- extracellular region Source: Reactome
Lysosome
- azurophil granule lumen Source: Reactome
Mitochondrion
- mitochondrial outer membrane Source: Reactome
- mitochondrion Source: UniProtKB
Other locations
- cytoplasm Source: ProtInc
- lipid droplet Source: UniProtKB
- membrane Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Endoplasmic reticulum, Membrane, Mitochondrion, Mitochondrion outer membranePathology & Biotechi
Involvement in diseasei
Methemoglobinemia CYB5R3-related (METHB-CYB5R3)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms.
See also OMIM:250800Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004619 | 58 | R → Q in METHB-CYB5R3; type 1; 62% of activity. 3 PublicationsCorresponds to variant dbSNP:rs121965007EnsemblClinVar. | 1 | |
Natural variantiVAR_010750 | 73 | L → P in METHB-CYB5R3; type 1. 2 PublicationsCorresponds to variant dbSNP:rs121965013EnsemblClinVar. | 1 | |
Natural variantiVAR_004620 | 106 | V → M in METHB-CYB5R3; type 1; 77% of activity. 1 PublicationCorresponds to variant dbSNP:rs121965009EnsemblClinVar. | 1 | |
Natural variantiVAR_004621 | 128 | S → P in METHB-CYB5R3; type 2; Hiroshima. 1 PublicationCorresponds to variant dbSNP:rs121965006EnsemblClinVar. | 1 | |
Natural variantiVAR_004622 | 149 | L → P in METHB-CYB5R3. 1 PublicationCorresponds to variant dbSNP:rs121965008EnsemblClinVar. | 1 | |
Natural variantiVAR_010752 | 179 | A → V in METHB-CYB5R3; type 1. 1 PublicationCorresponds to variant dbSNP:rs201232518Ensembl. | 1 | |
Natural variantiVAR_010753 | 204 | C → R in METHB-CYB5R3; type 2. 1 PublicationCorresponds to variant dbSNP:rs121965011EnsemblClinVar. | 1 | |
Natural variantiVAR_010754 | 204 | C → Y in METHB-CYB5R3; type 1. 2 PublicationsCorresponds to variant dbSNP:rs121965015EnsemblClinVar. | 1 | |
Natural variantiVAR_037315 | 256 | Missing in METHB-CYB5R3; type 1; retains approximately 38% of residual diaphorase activity. 2 Publications | 1 | |
Natural variantiVAR_010755 | 273 | Missing in METHB-CYB5R3; type 2. 1 Publication | 1 | |
Natural variantiVAR_037316 | 292 | G → D in METHB-CYB5R3; type 1; retains approximately 58% of residual diaphorase activity. 2 PublicationsCorresponds to variant dbSNP:rs121965016EnsemblClinVar. | 1 | |
Natural variantiVAR_004623 | 299 | Missing in METHB-CYB5R3; type2; almost complete loss of activity. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 1727 |
MalaCardsi | CYB5R3 |
MIMi | 250800 phenotype |
OpenTargetsi | ENSG00000100243 |
Orphaneti | 621 Hereditary methemoglobinemia |
PharmGKBi | PA27331 |
Chemistry databases
ChEMBLi | CHEMBL2146 |
DrugBanki | DB03147 Flavin adenine dinucleotide DB00157 NADH |
Polymorphism and mutation databases
BioMutai | CYB5R3 |
DMDMi | 127846 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000019392 | 2 – 301 | NADH-cytochrome b5 reductase 3 membrane-bound formAdd BLAST | 300 | |
ChainiPRO_0000019394 | 27 – 301 | NADH-cytochrome b5 reductase 3 soluble formAdd BLAST | 275 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 2 | N-myristoyl glycine2 Publications | 1 | |
Modified residuei | 42 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 43 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 120 | N6-acetyllysineBy similarity | 1 |
Keywords - PTMi
Acetylation, Lipoprotein, Myristate, PhosphoproteinProteomic databases
EPDi | P00387 |
jPOSTi | P00387 |
MaxQBi | P00387 |
PaxDbi | P00387 |
PeptideAtlasi | P00387 |
PRIDEi | P00387 |
ProteomicsDBi | 51238 51239 [P00387-2] 51240 [P00387-3] |
TopDownProteomicsi | P00387-1 [P00387-1] P00387-2 [P00387-2] |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00446235 |
PTM databases
iPTMneti | P00387 |
PhosphoSitePlusi | P00387 |
SwissPalmi | P00387 |
Expressioni
Tissue specificityi
Isoform 2 is expressed at late stages of erythroid maturation.
Gene expression databases
Bgeei | ENSG00000100243 Expressed in 239 organ(s), highest expression level in thoracic aorta |
ExpressionAtlasi | P00387 baseline and differential |
Genevisiblei | P00387 HS |
Organism-specific databases
HPAi | HPA001566 |
Interactioni
Subunit structurei
Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MOSC2.By similarity
Binary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
HBA2 | P69905 | 2 | EBI-1046040,EBI-714680 |
Protein-protein interaction databases
BioGridi | 108071, 48 interactors |
DIPi | DIP-50463N |
IntActi | P00387, 69 interactors |
STRINGi | 9606.ENSP00000354468 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1M91 | model | - | A | 1-301 | [»] | |
1UMK | X-ray | 1.75 | A | 27-301 | [»] | |
ProteinModelPortali | P00387 | |||||
SMRi | P00387 | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P00387 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 40 – 152 | FAD-binding FR-typePROSITE-ProRule annotationAdd BLAST | 113 |
Sequence similaritiesi
Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.Curated
Phylogenomic databases
eggNOGi | KOG0534 Eukaryota COG0543 LUCA |
GeneTreei | ENSGT00940000153962 |
HOGENOMi | HOG000175005 |
HOVERGENi | HBG052580 |
InParanoidi | P00387 |
KOi | K00326 |
OMAi | HNTAIYR |
OrthoDBi | 1311668at2759 |
PhylomeDBi | P00387 |
TreeFami | TF314333 |
Family and domain databases
Gene3Di | 3.40.50.80, 1 hit |
InterProi | View protein in InterPro IPR001834 CBR-like IPR008333 Cbr1-like_FAD-bd_dom IPR017927 FAD-bd_FR_type IPR001709 Flavoprot_Pyr_Nucl_cyt_Rdtase IPR039261 FNR_nucleotide-bd IPR001433 OxRdtase_FAD/NAD-bd IPR017938 Riboflavin_synthase-like_b-brl |
Pfami | View protein in Pfam PF00970 FAD_binding_6, 1 hit PF00175 NAD_binding_1, 1 hit |
PRINTSi | PR00406 CYTB5RDTASE PR00371 FPNCR |
SUPFAMi | SSF52343 SSF52343, 1 hit SSF63380 SSF63380, 1 hit |
PROSITEi | View protein in PROSITE PS51384 FAD_FR, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative promoter usage and alternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: P00387-1) [UniParc]FASTAAdd to basket
Also known as: M
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.
10 20 30 40 50
MGAQLSTLGH MVLFPVWFLY SLLMKLFQRS TPAITLESPD IKYPLRLIDR
60 70 80 90 100
EIISHDTRRF RFALPSPQHI LGLPVGQHIY LSARIDGNLV VRPYTPISSD
110 120 130 140 150
DDKGFVDLVI KVYFKDTHPK FPAGGKMSQY LESMQIGDTI EFRGPSGLLV
160 170 180 190 200
YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG GTGITPMLQV IRAIMKDPDD
210 220 230 240 250
HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLD RAPEAWDYGQ
260 270 280 290 300
GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV
F
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB1AHF3 | B1AHF3_HUMAN | NADH-cytochrome b5 reductase 3 | CYB5R3 | 147 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 28 – 32 | QRSTP → RWPRA in AAA52307 (PubMed:3035541).Curated | 5 | |
Sequence conflicti | 29 | R → G in AAA59900 (PubMed:2479590).Curated | 1 | |
Sequence conflicti | 31 | T → K in CAA09006 (Ref. 4) Curated | 1 | |
Sequence conflicti | 31 | T → K in CAA09007 (Ref. 4) Curated | 1 | |
Sequence conflicti | 31 | T → K in CAA09008 (Ref. 4) Curated | 1 | |
Sequence conflicti | 34 – 35 | IT → LA in AAA52307 (PubMed:3035541).Curated | 2 | |
Sequence conflicti | 187 – 188 | ML → IV in CAA09006 (Ref. 4) Curated | 2 | |
Sequence conflicti | 187 – 188 | ML → IV in CAA09007 (Ref. 4) Curated | 2 | |
Sequence conflicti | 191 – 192 | IR → MS in CAA09006 (Ref. 4) Curated | 2 | |
Sequence conflicti | 191 – 192 | IR → MS in CAA09007 (Ref. 4) Curated | 2 | |
Sequence conflicti | 192 | R → G in AAA52306 (PubMed:3035541).Curated | 1 | |
Sequence conflicti | 233 – 234 | FK → CN in CAA09006 (Ref. 4) Curated | 2 | |
Sequence conflicti | 233 – 234 | FK → CN in CAA09007 (Ref. 4) Curated | 2 | |
Sequence conflicti | 280 | I → N in AAL87744 (Ref. 3) Curated | 1 |
Polymorphismi
Ser-117 seems to only be found in persons of African origin. The allele frequency is 0.23 in African Americans. It was not found in Caucasians, Asians, Indo-Aryans, or Arabs. There seems to be no effect on the enzyme activity.1 Publication
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004619 | 58 | R → Q in METHB-CYB5R3; type 1; 62% of activity. 3 PublicationsCorresponds to variant dbSNP:rs121965007EnsemblClinVar. | 1 | |
Natural variantiVAR_018419 | 66 | S → P3 PublicationsCorresponds to variant dbSNP:rs1130706Ensembl. | 1 | |
Natural variantiVAR_010750 | 73 | L → P in METHB-CYB5R3; type 1. 2 PublicationsCorresponds to variant dbSNP:rs121965013EnsemblClinVar. | 1 | |
Natural variantiVAR_004620 | 106 | V → M in METHB-CYB5R3; type 1; 77% of activity. 1 PublicationCorresponds to variant dbSNP:rs121965009EnsemblClinVar. | 1 | |
Natural variantiVAR_010751 | 117 | T → S2 PublicationsCorresponds to variant dbSNP:rs1800457EnsemblClinVar. | 1 | |
Natural variantiVAR_004621 | 128 | S → P in METHB-CYB5R3; type 2; Hiroshima. 1 PublicationCorresponds to variant dbSNP:rs121965006EnsemblClinVar. | 1 | |
Natural variantiVAR_004622 | 149 | L → P in METHB-CYB5R3. 1 PublicationCorresponds to variant dbSNP:rs121965008EnsemblClinVar. | 1 | |
Natural variantiVAR_010752 | 179 | A → V in METHB-CYB5R3; type 1. 1 PublicationCorresponds to variant dbSNP:rs201232518Ensembl. | 1 | |
Natural variantiVAR_010753 | 204 | C → R in METHB-CYB5R3; type 2. 1 PublicationCorresponds to variant dbSNP:rs121965011EnsemblClinVar. | 1 | |
Natural variantiVAR_010754 | 204 | C → Y in METHB-CYB5R3; type 1. 2 PublicationsCorresponds to variant dbSNP:rs121965015EnsemblClinVar. | 1 | |
Natural variantiVAR_037315 | 256 | Missing in METHB-CYB5R3; type 1; retains approximately 38% of residual diaphorase activity. 2 Publications | 1 | |
Natural variantiVAR_010755 | 273 | Missing in METHB-CYB5R3; type 2. 1 Publication | 1 | |
Natural variantiVAR_037316 | 292 | G → D in METHB-CYB5R3; type 1; retains approximately 58% of residual diaphorase activity. 2 PublicationsCorresponds to variant dbSNP:rs121965016EnsemblClinVar. | 1 | |
Natural variantiVAR_004623 | 299 | Missing in METHB-CYB5R3; type2; almost complete loss of activity. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_010200 | 1 – 23 | Missing in isoform 2. CuratedAdd BLAST | 23 | |
Alternative sequenceiVSP_042827 | 1 – 7 | MGAQLST → MNRSLLVGCMQSKDIWGREE SICERLKQDGLDVERAESWE in isoform 3. 1 Publication | 7 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000352397; ENSP00000338461; ENSG00000100243 [P00387-1] ENST00000361740; ENSP00000354468; ENSG00000100243 [P00387-3] ENST00000402438; ENSP00000385679; ENSG00000100243 [P00387-2] ENST00000407332; ENSP00000384457; ENSG00000100243 [P00387-2] ENST00000407623; ENSP00000384834; ENSG00000100243 [P00387-2] |
GeneIDi | 1727 |
KEGGi | hsa:1727 |
UCSCi | uc003bcx.4 human [P00387-1] |
Keywords - Coding sequence diversityi
Alternative promoter usage, Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1M91 | model | - | A | 1-301 | [»] | |
1UMK | X-ray | 1.75 | A | 27-301 | [»] | |
ProteinModelPortali | P00387 | |||||
SMRi | P00387 | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 108071, 48 interactors |
DIPi | DIP-50463N |
IntActi | P00387, 69 interactors |
STRINGi | 9606.ENSP00000354468 |
Chemistry databases
ChEMBLi | CHEMBL2146 |
DrugBanki | DB03147 Flavin adenine dinucleotide DB00157 NADH |
PTM databases
iPTMneti | P00387 |
PhosphoSitePlusi | P00387 |
SwissPalmi | P00387 |
Polymorphism and mutation databases
BioMutai | CYB5R3 |
DMDMi | 127846 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00446235 |
Proteomic databases
EPDi | P00387 |
jPOSTi | P00387 |
MaxQBi | P00387 |
PaxDbi | P00387 |
PeptideAtlasi | P00387 |
PRIDEi | P00387 |
ProteomicsDBi | 51238 51239 [P00387-2] 51240 [P00387-3] |
TopDownProteomicsi | P00387-1 [P00387-1] P00387-2 [P00387-2] |
Protocols and materials databases
DNASUi | 1727 |
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000352397; ENSP00000338461; ENSG00000100243 [P00387-1] ENST00000361740; ENSP00000354468; ENSG00000100243 [P00387-3] ENST00000402438; ENSP00000385679; ENSG00000100243 [P00387-2] ENST00000407332; ENSP00000384457; ENSG00000100243 [P00387-2] ENST00000407623; ENSP00000384834; ENSG00000100243 [P00387-2] |
GeneIDi | 1727 |
KEGGi | hsa:1727 |
UCSCi | uc003bcx.4 human [P00387-1] |
Organism-specific databases
CTDi | 1727 |
DisGeNETi | 1727 |
EuPathDBi | HostDB:ENSG00000100243.20 |
GeneCardsi | CYB5R3 |
HGNCi | HGNC:2873 CYB5R3 |
HPAi | HPA001566 |
MalaCardsi | CYB5R3 |
MIMi | 250800 phenotype 613213 gene |
neXtProti | NX_P00387 |
OpenTargetsi | ENSG00000100243 |
Orphaneti | 621 Hereditary methemoglobinemia |
PharmGKBi | PA27331 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0534 Eukaryota COG0543 LUCA |
GeneTreei | ENSGT00940000153962 |
HOGENOMi | HOG000175005 |
HOVERGENi | HBG052580 |
InParanoidi | P00387 |
KOi | K00326 |
OMAi | HNTAIYR |
OrthoDBi | 1311668at2759 |
PhylomeDBi | P00387 |
TreeFami | TF314333 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS02015-MONOMER |
BRENDAi | 1.6.2.2 2681 |
Reactomei | R-HSA-196836 Vitamin C (ascorbate) metabolism R-HSA-211945 Phase I - Functionalization of compounds R-HSA-6798695 Neutrophil degranulation |
SABIO-RKi | P00387 |
Miscellaneous databases
EvolutionaryTracei | P00387 |
GeneWikii | CYB5R3 |
GenomeRNAii | 1727 |
PROi | PR:P00387 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100243 Expressed in 239 organ(s), highest expression level in thoracic aorta |
ExpressionAtlasi | P00387 baseline and differential |
Genevisiblei | P00387 HS |
Family and domain databases
Gene3Di | 3.40.50.80, 1 hit |
InterProi | View protein in InterPro IPR001834 CBR-like IPR008333 Cbr1-like_FAD-bd_dom IPR017927 FAD-bd_FR_type IPR001709 Flavoprot_Pyr_Nucl_cyt_Rdtase IPR039261 FNR_nucleotide-bd IPR001433 OxRdtase_FAD/NAD-bd IPR017938 Riboflavin_synthase-like_b-brl |
Pfami | View protein in Pfam PF00970 FAD_binding_6, 1 hit PF00175 NAD_binding_1, 1 hit |
PRINTSi | PR00406 CYTB5RDTASE PR00371 FPNCR |
SUPFAMi | SSF52343 SSF52343, 1 hit SSF63380 SSF63380, 1 hit |
PROSITEi | View protein in PROSITE PS51384 FAD_FR, 1 hit |
ProtoNeti | Search... |
Entry informationi
Entry namei | NB5R3_HUMAN | |
Accessioni | P00387Primary (citable) accession number: P00387 Secondary accession number(s): B1AHF2 Q9UL56 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 13, 2019 | |
This is version 239 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations