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Protein

Glucose-6-phosphatase

Gene

G6PC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.

Catalytic activityi

D-glucose 6-phosphate + H2O = D-glucose + phosphate.

Pathwayi: gluconeogenesis

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei83SubstrateSequence analysis1
Active sitei119Proton donorSequence analysis1
Binding sitei170SubstrateSequence analysis1
Active sitei176Nucleophile1 Publication1

GO - Molecular functioni

  • glucose-6-phosphatase activity Source: UniProtKB
  • phosphate ion binding Source: UniProtKB
  • phosphotransferase activity, alcohol group as acceptor Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processGluconeogenesis

Enzyme and pathway databases

BioCyciMetaCyc:HS05538-MONOMER.
BRENDAi3.1.3.9. 2681.
ReactomeiR-HSA-70263. Gluconeogenesis.
SABIO-RKiP35575.
SIGNORiP35575.
UniPathwayiUPA00138.

Names & Taxonomyi

Protein namesi
Recommended name:
Glucose-6-phosphatase (EC:3.1.3.9)
Short name:
G-6-Pase
Short name:
G6Pase
Alternative name(s):
Glucose-6-phosphatase alpha
Short name:
G6Pase-alpha
Gene namesi
Name:G6PC
Synonyms:G6PT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000131482.9.
HGNCiHGNC:4056. G6PC.

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 domaini1 – 28LumenalSequence analysisAdd BLAST28
Transmembranei29 – 49HelicalSequence analysisAdd BLAST21
Topological domaini50 – 60CytoplasmicSequence analysisAdd BLAST11
Transmembranei61 – 81HelicalSequence analysisAdd BLAST21
Topological domaini82 – 117LumenalSequence analysisAdd BLAST36
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 147CytoplasmicSequence analysis9
Transmembranei148 – 168HelicalSequence analysisAdd BLAST21
Topological domaini169 – 179LumenalSequence analysisAdd BLAST11
Transmembranei180 – 202HelicalSequence analysisAdd BLAST23
Topological domaini203 – 209CytoplasmicSequence analysis7
Transmembranei210 – 230HelicalSequence analysisAdd BLAST21
Topological domaini231 – 254LumenalSequence analysisAdd BLAST24
Transmembranei255 – 275HelicalSequence analysisAdd BLAST21
Topological domaini276 – 291CytoplasmicSequence analysisAdd BLAST16
Transmembranei292 – 312HelicalSequence analysisAdd BLAST21
Topological domaini313 – 320LumenalSequence analysis8
Transmembranei321 – 341HelicalSequence analysisAdd BLAST21
Topological domaini342 – 357CytoplasmicSequence analysisAdd BLAST16

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Glycogen storage disease 1A (GSD1A)24 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.
See also OMIM:232200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0462495M → R in GSD1A. 1 Publication1
Natural variantiVAR_04625016T → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs761839506Ensembl.1
Natural variantiVAR_04625116T → R in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication1
Natural variantiVAR_00920220Q → R in GSD1A. 2 Publications1
Natural variantiVAR_00523738D → V in GSD1A. 4 PublicationsCorresponds to variant dbSNP:rs104894565Ensembl.1
Natural variantiVAR_00920354Q → P in GSD1A. 3 Publications1
Natural variantiVAR_04625263W → R in GSD1A. 1 Publication1
Natural variantiVAR_04625365A → P in GSD1A. 1 Publication1
Natural variantiVAR_04625468G → R in GSD1A. 2 Publications1
Natural variantiVAR_04625576K → N in GSD1A; loss of catalytic activity. 2 Publications1
Natural variantiVAR_00523877W → R in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894566Ensembl.1
Natural variantiVAR_00920481G → R in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs756632286Ensembl.1
Natural variantiVAR_00523983R → C in GSD1A; complete loss of activity; prevalent mutation in Ashkenazi Jewish population. 12 PublicationsCorresponds to variant dbSNP:rs1801175Ensembl.1
Natural variantiVAR_00524083R → H in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs1801176Ensembl.1
Natural variantiVAR_00524183R → I in GSD1A. 1 Publication1
Natural variantiVAR_009205108T → I in GSD1A. 2 Publications1
Natural variantiVAR_005242110E → K in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894567Ensembl.1
Natural variantiVAR_046256111T → I in GSD1A. 1 Publication1
Natural variantiVAR_046257113P → L in GSD1A. 1 Publication1
Natural variantiVAR_046258119H → L in GSD1A. 1 Publication1
Natural variantiVAR_046259122G → D in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs759982943Ensembl.1
Natural variantiVAR_005243124A → T in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894568Ensembl.1
Natural variantiVAR_009206156W → L in GSD1A. 2 Publications1
Natural variantiVAR_046260166V → A in GSD1A. 1 Publication1
Natural variantiVAR_005244166V → G in GSD1A; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894571Ensembl.1
Natural variantiVAR_046261170R → Q in GSD1A; loss of catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs750470654Ensembl.1
Natural variantiVAR_046262177F → C in GSD1A. 1 Publication1
Natural variantiVAR_065164178P → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs763543607Ensembl.1
Natural variantiVAR_046263178P → S in GSD1A. 1 Publication1
Natural variantiVAR_046264179H → P in GSD1A. 1 Publication1
Natural variantiVAR_005245184G → E in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894569Ensembl.1
Natural variantiVAR_046265184G → V in GSD1A. 1 Publication1
Natural variantiVAR_009207188G → D in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs760981149Ensembl.1
Natural variantiVAR_005246188G → R in GSD1A; complete loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs80356482Ensembl.1
Natural variantiVAR_046266188G → S in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs80356482Ensembl.1
Natural variantiVAR_046268209Y → C in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication1
Natural variantiVAR_005247211L → P in GSD1A. 1 Publication1
Natural variantiVAR_005248222G → R in GSD1A. 1 Publication1
Natural variantiVAR_046269236W → R in GSD1A. 1 Publication1
Natural variantiVAR_046270241A → T in GSD1A. 1 Publication1
Natural variantiVAR_065165255T → I in GSD1A. 1 Publication1
Natural variantiVAR_046271257P → L in GSD1A. 1 Publication1
Natural variantiVAR_046272264N → K in GSD1A. 1 Publication1
Natural variantiVAR_046273265L → P in GSD1A. 1 Publication1
Natural variantiVAR_005249266G → V in GSD1A. 1 Publication1
Natural variantiVAR_046274270G → R in GSD1A. 1 Publication1
Natural variantiVAR_005250270G → V in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs80356483Ensembl.1
Natural variantiVAR_046275270G → W in GSD1A. 1 Publication1
Natural variantiVAR_005251295R → C in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894563Ensembl.1
Natural variantiVAR_046276298S → P in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs770003650Ensembl.1
Natural variantiVAR_046277322F → L in GSD1A. 1 Publication1
Natural variantiVAR_005252327Missing in GSD1A. 2 Publications1
Natural variantiVAR_005253338V → F in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs367727229Ensembl.1
Natural variantiVAR_005254341I → N in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs387906505Ensembl.1
Natural variantiVAR_046278345L → R in GSD1A. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi9H → A: Partial loss of catalytic activity. 1 Publication1
Mutagenesisi52H → A: Partial loss of catalytic activity. 1 Publication1
Mutagenesisi119H → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi176H → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi179H → A: Loss of catalytic activity. 1 Publication1
Mutagenesisi197H → T: Partial loss of catalytic activity. 1 Publication1
Mutagenesisi252H → A: Partial loss of catalytic activity. 1 Publication1
Mutagenesisi307H → A: Partial loss of catalytic activity. 1 Publication1
Mutagenesisi353H → A: Partial loss of catalytic activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNETi2538.
GeneReviewsiG6PC.
MalaCardsiG6PC.
MIMi232200. phenotype.
OpenTargetsiENSG00000131482.
Orphaneti79258. Glycogen storage disease due to glucose-6-phosphatase deficiency type a.
PharmGKBiPA28468.

Chemistry databases

ChEMBLiCHEMBL2282.

Polymorphism and mutation databases

BioMutaiG6PC.
DMDMi206729864.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000874131 – 357Glucose-6-phosphataseAdd BLAST357

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi96N-linked (GlcNAc...) asparagine2 Publications1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP35575.
PeptideAtlasiP35575.
PRIDEiP35575.

PTM databases

DEPODiP35575.
iPTMnetiP35575.
PhosphoSitePlusiP35575.

Expressioni

Gene expression databases

BgeeiENSG00000131482.
CleanExiHS_G6PC.
ExpressionAtlasiP35575. baseline and differential.
GenevisibleiP35575. HS.

Organism-specific databases

HPAiHPA052324.

Interactioni

Protein-protein interaction databases

BioGridi108813. 3 interactors.
IntActiP35575. 3 interactors.
STRINGi9606.ENSP00000253801.

Chemistry databases

BindingDBiP35575.

Structurei

3D structure databases

ProteinModelPortaliP35575.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glucose-6-phosphatase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IDXG. Eukaryota.
ENOG4110AJ7. LUCA.
GeneTreeiENSGT00510000046465.
HOGENOMiHOG000264239.
HOVERGENiHBG003560.
InParanoidiP35575.
KOiK01084.
OMAiYLQVNYQ.
OrthoDBiEOG091G0AXF.
PhylomeDBiP35575.
TreeFamiTF324388.

Family and domain databases

InterProiView protein in InterPro
IPR016275. Glucose-6-phosphatase.
IPR036938. P_Acid_Pase_2/haloperoxi_sf.
IPR000326. P_Acid_Pase_2/haloperoxidase.
PfamiView protein in Pfam
PF01569. PAP2. 1 hit.
PIRSFiPIRSF000905. Glucose-6-phosphatase. 1 hit.
SMARTiView protein in SMART
SM00014. acidPPc. 1 hit.
SUPFAMiSSF48317. SSF48317. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P35575-1) [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
MEEGMNVLHD FGIQSTHYLQ VNYQDSQDWF ILVSVIADLR NAFYVLFPIW
60 70 80 90 100
FHLQEAVGIK LLWVAVIGDW LNLVFKWILF GQRPYWWVLD TDYYSNTSVP
110 120 130 140 150
LIKQFPVTCE TGPGSPSGHA MGTAGVYYVM VTSTLSIFQG KIKPTYRFRC
160 170 180 190 200
LNVILWLGFW AVQLNVCLSR IYLAAHFPHQ VVAGVLSGIA VAETFSHIHS
210 220 230 240 250
IYNASLKKYF LITFFLFSFA IGFYLLLKGL GVDLLWTLEK AQRWCEQPEW
260 270 280 290 300
VHIDTTPFAS LLKNLGTLFG LGLALNSSMY RESCKGKLSK WLPFRLSSIV
310 320 330 340 350
ASLVLLHVFD SLKPPSQVEL VFYVLSFCKS AVVPLASVSV IPYCLAQVLG

QPHKKSL
Length:357
Mass (Da):40,484
Last modified:September 23, 2008 - v2
Checksum:i2FEA1C78928A9919
GO
Isoform 2 (identifier: P35575-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-175: SPSGHAMGTA...VCLSRIYLAA → KDKADLQISV...CRNFQPHPQH
     176-356: Missing.

Note: No experimental confirmation available.
Show »
Length:176
Mass (Da):20,209
Checksum:i9185BD4F9911B02D
GO

Sequence cautioni

P35575: The sequence BAG64735 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti109C → R in BAG64735 (PubMed:14702039).Curated1
Sequence conflicti192A → T in AAA16222 (PubMed:8211187).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0462495M → R in GSD1A. 1 Publication1
Natural variantiVAR_04625016T → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs761839506Ensembl.1
Natural variantiVAR_04625116T → R in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication1
Natural variantiVAR_00920220Q → R in GSD1A. 2 Publications1
Natural variantiVAR_00523738D → V in GSD1A. 4 PublicationsCorresponds to variant dbSNP:rs104894565Ensembl.1
Natural variantiVAR_00920354Q → P in GSD1A. 3 Publications1
Natural variantiVAR_04625263W → R in GSD1A. 1 Publication1
Natural variantiVAR_04625365A → P in GSD1A. 1 Publication1
Natural variantiVAR_04625468G → R in GSD1A. 2 Publications1
Natural variantiVAR_04625576K → N in GSD1A; loss of catalytic activity. 2 Publications1
Natural variantiVAR_00523877W → R in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894566Ensembl.1
Natural variantiVAR_00920481G → R in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs756632286Ensembl.1
Natural variantiVAR_00523983R → C in GSD1A; complete loss of activity; prevalent mutation in Ashkenazi Jewish population. 12 PublicationsCorresponds to variant dbSNP:rs1801175Ensembl.1
Natural variantiVAR_00524083R → H in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs1801176Ensembl.1
Natural variantiVAR_00524183R → I in GSD1A. 1 Publication1
Natural variantiVAR_009205108T → I in GSD1A. 2 Publications1
Natural variantiVAR_005242110E → K in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs104894567Ensembl.1
Natural variantiVAR_046256111T → I in GSD1A. 1 Publication1
Natural variantiVAR_046257113P → L in GSD1A. 1 Publication1
Natural variantiVAR_035922116P → L in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_046258119H → L in GSD1A. 1 Publication1
Natural variantiVAR_046259122G → D in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs759982943Ensembl.1
Natural variantiVAR_005243124A → T in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs104894568Ensembl.1
Natural variantiVAR_009206156W → L in GSD1A. 2 Publications1
Natural variantiVAR_046260166V → A in GSD1A. 1 Publication1
Natural variantiVAR_005244166V → G in GSD1A; complete loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894571Ensembl.1
Natural variantiVAR_046261170R → Q in GSD1A; loss of catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs750470654Ensembl.1
Natural variantiVAR_046262177F → C in GSD1A. 1 Publication1
Natural variantiVAR_065164178P → A in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs763543607Ensembl.1
Natural variantiVAR_046263178P → S in GSD1A. 1 Publication1
Natural variantiVAR_046264179H → P in GSD1A. 1 Publication1
Natural variantiVAR_005245184G → E in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894569Ensembl.1
Natural variantiVAR_046265184G → V in GSD1A. 1 Publication1
Natural variantiVAR_009207188G → D in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs760981149Ensembl.1
Natural variantiVAR_005246188G → R in GSD1A; complete loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs80356482Ensembl.1
Natural variantiVAR_046266188G → S in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs80356482Ensembl.1
Natural variantiVAR_046268209Y → C in GSD1A; complete loss of activity and reduced enzyme stability. 1 Publication1
Natural variantiVAR_005247211L → P in GSD1A. 1 Publication1
Natural variantiVAR_005248222G → R in GSD1A. 1 Publication1
Natural variantiVAR_046269236W → R in GSD1A. 1 Publication1
Natural variantiVAR_046270241A → T in GSD1A. 1 Publication1
Natural variantiVAR_065165255T → I in GSD1A. 1 Publication1
Natural variantiVAR_046271257P → L in GSD1A. 1 Publication1
Natural variantiVAR_046272264N → K in GSD1A. 1 Publication1
Natural variantiVAR_046273265L → P in GSD1A. 1 Publication1
Natural variantiVAR_005249266G → V in GSD1A. 1 Publication1
Natural variantiVAR_046274270G → R in GSD1A. 1 Publication1
Natural variantiVAR_005250270G → V in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs80356483Ensembl.1
Natural variantiVAR_046275270G → W in GSD1A. 1 Publication1
Natural variantiVAR_005251295R → C in GSD1A. 2 PublicationsCorresponds to variant dbSNP:rs104894563Ensembl.1
Natural variantiVAR_046276298S → P in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs770003650Ensembl.1
Natural variantiVAR_046277322F → L in GSD1A. 1 Publication1
Natural variantiVAR_005252327Missing in GSD1A. 2 Publications1
Natural variantiVAR_005253338V → F in GSD1A. 3 PublicationsCorresponds to variant dbSNP:rs367727229Ensembl.1
Natural variantiVAR_005254341I → N in GSD1A. 1 PublicationCorresponds to variant dbSNP:rs387906505Ensembl.1
Natural variantiVAR_046278345L → R in GSD1A. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047558115 – 175SPSGH…IYLAA → KDKADLQISVLECHFVVGIL GCAAECLSVTNLPCCSFSSS SCCWSPVRHCCCRNFQPHPQ H in isoform 2. 1 PublicationAdd BLAST61
Alternative sequenceiVSP_047559176 – 356Missing in isoform 2. 1 PublicationAdd BLAST181

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U01120 mRNA. Translation: AAA16222.1.
AK303771 mRNA. Translation: BAG64735.1. Different initiation.
AK313982 mRNA. Translation: BAG36695.1.
AC016889 Genomic DNA. No translation available.
BC130478 mRNA. Translation: AAI30479.1.
BC136369 mRNA. Translation: AAI36370.1.
CCDSiCCDS11446.1. [P35575-1]
CCDS59291.1. [P35575-2]
PIRiA48251.
RefSeqiNP_000142.2. NM_000151.3. [P35575-1]
NP_001257326.1. NM_001270397.1. [P35575-2]
UniGeneiHs.212293.
Hs.742566.

Genome annotation databases

EnsembliENST00000253801; ENSP00000253801; ENSG00000131482. [P35575-1]
ENST00000592383; ENSP00000465958; ENSG00000131482. [P35575-2]
GeneIDi2538.
KEGGihsa:2538.
UCSCiuc002icb.3. human. [P35575-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiG6PC_HUMAN
AccessioniPrimary (citable) accession number: P35575
Secondary accession number(s): A1L4C0, B4E1C3, K7EL82
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: September 23, 2008
Last modified: October 25, 2017
This is version 169 of the entry and version 2 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. Human chromosome 17
    Human chromosome 17: 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