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Q8WTS1

- ABHD5_HUMAN

UniProt

Q8WTS1 - ABHD5_HUMAN

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Protein

1-acylglycerol-3-phosphate O-acyltransferase ABHD5

Gene

ABHD5

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

Functioni

Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation.3 Publications

Catalytic activityi

Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate.1 Publication

GO - Molecular functioni

  1. 1-acylglycerol-3-phosphate O-acyltransferase activity Source: UniProtKB-EC
  2. lysophosphatidic acid acyltransferase activity Source: UniProtKB

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. fatty acid metabolic process Source: UniProtKB-KW
  3. negative regulation of sequestering of triglyceride Source: UniProtKB
  4. phosphatidic acid biosynthetic process Source: UniProtKB
  5. positive regulation of lipoprotein lipase activity Source: Ensembl
  6. positive regulation of triglyceride catabolic process Source: UniProtKB
  7. small molecule metabolic process Source: Reactome
  8. triglyceride catabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

Differentiation, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism

Enzyme and pathway databases

ReactomeiREACT_494. Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis.

Protein family/group databases

MEROPSiS33.975.

Names & Taxonomyi

Protein namesi
Recommended name:
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (EC:2.3.1.51)
Alternative name(s):
Abhydrolase domain-containing protein 5
Lipid droplet-binding protein CGI-58
Gene namesi
Name:ABHD5
Synonyms:NCIE2
ORF Names:CGI-58
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:21396. ABHD5.

Subcellular locationi

Cytoplasm 1 Publication. Lipid droplet By similarity
Note: Colocalized with PLIN and ADRP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA By similarity.By similarity

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. cytosol Source: UniProtKB
  3. intracellular membrane-bounded organelle Source: HPA
  4. lipid particle Source: UniProtKB
  5. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Lipid droplet

Pathology & Biotechi

Involvement in diseasei

Chanarin-Dorfman syndrome (CDS) [MIM:275630]: An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71E → K in CDS. 1 Publication
Corresponds to variant rs104893676 [ dbSNP | Ensembl ].
VAR_023387
Natural varianti82 – 821H → R Found in a patient with CDS but without evidence it may cause the disease. 1 Publication
VAR_057953
Natural varianti115 – 1151S → G in CDS. 1 Publication
VAR_057954
Natural varianti130 – 1301Q → P in CDS; loss of PNPLA2-dependent triacylclycerol hydrolysis but no effect on LPA acyltransferase activity. 1 Publication
Corresponds to variant rs28939077 [ dbSNP | Ensembl ].
VAR_023388
Natural varianti260 – 2601E → K in CDS; loss of PNPLA2-dependent triacylclycerol hydrolysis but no effect on LPA acyltransferase activity. 1 Publication
Corresponds to variant rs28939078 [ dbSNP | Ensembl ].
VAR_023389

Keywords - Diseasei

Cataract, Deafness, Disease mutation, Ichthyosis

Organism-specific databases

MIMi275630. phenotype.
Orphaneti98907. Dorfman-Chanarin disease.
PharmGKBiPA134891622.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 3493481-acylglycerol-3-phosphate O-acyltransferase ABHD5PRO_0000080866Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8WTS1.
PaxDbiQ8WTS1.
PeptideAtlasiQ8WTS1.
PRIDEiQ8WTS1.

PTM databases

PhosphoSiteiQ8WTS1.

Expressioni

Tissue specificityi

Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons (at protein level).2 Publications

Developmental stagei

Detected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level).1 Publication

Inductioni

Up-regulated upon keratinocyte differentiation (at protein level).1 Publication

Gene expression databases

BgeeiQ8WTS1.
CleanExiHS_ABHD5.
ExpressionAtlasiQ8WTS1. baseline and differential.
GenevestigatoriQ8WTS1.

Organism-specific databases

HPAiCAB020685.
HPA035851.
HPA035852.

Interactioni

Subunit structurei

Interacts with ADRP, PLIN and PNPLA2. Interacts with PLIN5; promotes interaction with PNPLA2 By similarity.By similarity

Protein-protein interaction databases

BioGridi119288. 5 interactions.
IntActiQ8WTS1. 3 interactions.
MINTiMINT-4650384.
STRINGi9606.ENSP00000390849.

Structurei

3D structure databases

ProteinModelPortaliQ8WTS1.
SMRiQ8WTS1. Positions 70-242.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi327 – 3326HXXXXD motif

Domaini

The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.By similarity

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0596.
GeneTreeiENSGT00390000016277.
HOGENOMiHOG000007445.
HOVERGENiHBG054445.
InParanoidiQ8WTS1.
KOiK13699.
OMAiPWGFAEK.
PhylomeDBiQ8WTS1.
TreeFamiTF314196.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR000073. AB_hydrolase_1.
[Graphical view]
PRINTSiPR00111. ABHYDROLASE.
SUPFAMiSSF53474. SSF53474. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Q8WTS1-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAAEEEEVDS ADTGERSGWL TGWLPTWCPT SISHLKEAEE KMLKCVPCTY
60 70 80 90 100
KKEPVRISNG NKIWTLKFSH NISNKTPLVL LHGFGGGLGL WALNFGDLCT
110 120 130 140 150
NRPVYAFDLL GFGRSSRPRF DSDAEEVENQ FVESIEEWRC ALGLDKMILL
160 170 180 190 200
GHNLGGFLAA AYSLKYPSRV NHLILVEPWG FPERPDLADQ DRPIPVWIRA
210 220 230 240 250
LGAALTPFNP LAGLRIAGPF GLSLVQRLRP DFKRKYSSMF EDDTVTEYIY
260 270 280 290 300
HCNVQTPSGE TAFKNMTIPY GWAKRPMLQR IGKMHPDIPV SVIFGARSCI
310 320 330 340
DGNSGTSIQS LRPHSYVKTI AILGAGHYVY ADQPEEFNQK VKEICDTVD
Length:349
Mass (Da):39,096
Last modified:March 1, 2002 - v1
Checksum:i85958A2DEC169C82
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti263 – 2631F → S in AAD34053. (PubMed:10810093)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71E → K in CDS. 1 Publication
Corresponds to variant rs104893676 [ dbSNP | Ensembl ].
VAR_023387
Natural varianti72 – 721I → T.
Corresponds to variant rs2302349 [ dbSNP | Ensembl ].
VAR_037574
Natural varianti82 – 821H → R Found in a patient with CDS but without evidence it may cause the disease. 1 Publication
VAR_057953
Natural varianti115 – 1151S → G in CDS. 1 Publication
VAR_057954
Natural varianti130 – 1301Q → P in CDS; loss of PNPLA2-dependent triacylclycerol hydrolysis but no effect on LPA acyltransferase activity. 1 Publication
Corresponds to variant rs28939077 [ dbSNP | Ensembl ].
VAR_023388
Natural varianti260 – 2601E → K in CDS; loss of PNPLA2-dependent triacylclycerol hydrolysis but no effect on LPA acyltransferase activity. 1 Publication
Corresponds to variant rs28939078 [ dbSNP | Ensembl ].
VAR_023389

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL606838 Genomic DNA. Translation: CAD12731.1.
AF151816 mRNA. Translation: AAD34053.1.
AK313811 mRNA. Translation: BAG36547.1.
AC105903 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64699.1.
BC021958 mRNA. Translation: AAH21958.1.
CCDSiCCDS2711.1.
RefSeqiNP_057090.2. NM_016006.4.
UniGeneiHs.19385.

Genome annotation databases

EnsembliENST00000458276; ENSP00000390849; ENSG00000011198.
GeneIDi51099.
KEGGihsa:51099.
UCSCiuc003cmx.3. human.

Polymorphism databases

DMDMi73921640.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL606838 Genomic DNA. Translation: CAD12731.1 .
AF151816 mRNA. Translation: AAD34053.1 .
AK313811 mRNA. Translation: BAG36547.1 .
AC105903 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64699.1 .
BC021958 mRNA. Translation: AAH21958.1 .
CCDSi CCDS2711.1.
RefSeqi NP_057090.2. NM_016006.4.
UniGenei Hs.19385.

3D structure databases

ProteinModelPortali Q8WTS1.
SMRi Q8WTS1. Positions 70-242.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119288. 5 interactions.
IntActi Q8WTS1. 3 interactions.
MINTi MINT-4650384.
STRINGi 9606.ENSP00000390849.

Protein family/group databases

MEROPSi S33.975.

PTM databases

PhosphoSitei Q8WTS1.

Polymorphism databases

DMDMi 73921640.

Proteomic databases

MaxQBi Q8WTS1.
PaxDbi Q8WTS1.
PeptideAtlasi Q8WTS1.
PRIDEi Q8WTS1.

Protocols and materials databases

DNASUi 51099.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000458276 ; ENSP00000390849 ; ENSG00000011198 .
GeneIDi 51099.
KEGGi hsa:51099.
UCSCi uc003cmx.3. human.

Organism-specific databases

CTDi 51099.
GeneCardsi GC03P043707.
HGNCi HGNC:21396. ABHD5.
HPAi CAB020685.
HPA035851.
HPA035852.
MIMi 275630. phenotype.
604780. gene.
neXtProti NX_Q8WTS1.
Orphaneti 98907. Dorfman-Chanarin disease.
PharmGKBi PA134891622.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0596.
GeneTreei ENSGT00390000016277.
HOGENOMi HOG000007445.
HOVERGENi HBG054445.
InParanoidi Q8WTS1.
KOi K13699.
OMAi PWGFAEK.
PhylomeDBi Q8WTS1.
TreeFami TF314196.

Enzyme and pathway databases

Reactomei REACT_494. Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis.

Miscellaneous databases

GeneWikii ABHD5.
GenomeRNAii 51099.
NextBioi 53805.
PROi Q8WTS1.
SOURCEi Search...

Gene expression databases

Bgeei Q8WTS1.
CleanExi HS_ABHD5.
ExpressionAtlasi Q8WTS1. baseline and differential.
Genevestigatori Q8WTS1.

Family and domain databases

Gene3Di 3.40.50.1820. 1 hit.
InterProi IPR029058. AB_hydrolase.
IPR000073. AB_hydrolase_1.
[Graphical view ]
PRINTSi PR00111. ABHYDROLASE.
SUPFAMi SSF53474. SSF53474. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome."
    Lefevre C., Jobard F., Caux F., Bouadjar B., Karaduman A., Heilig R., Lakhdar H., Wollenberg A., Verret J.-L., Weissenbach J., Oezguec M., Lathrop M., Prud'homme J.-F., Fischer J.
    Am. J. Hum. Genet. 69:1002-1012(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, VARIANTS CDS LYS-7; PRO-130 AND LYS-260.
  2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
    Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
    Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Substantia nigra.
  4. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  7. "Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome."
    Lass A., Zimmermann R., Haemmerle G., Riederer M., Schoiswohl G., Schweiger M., Kienesberger P., Strauss J.G., Gorkiewicz G., Zechner R.
    Cell Metab. 3:309-319(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CHARACTERIZATION OF VARIANTS CDS PRO-130 AND LYS-260.
  8. "CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes."
    Akiyama M., Sakai K., Takayama C., Yanagi T., Yamanaka Y., McMillan J.R., Shimizu H.
    Am. J. Pathol. 173:1349-1360(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INDUCTION.
  9. "CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid."
    Ghosh A.K., Ramakrishnan G., Chandramohan C., Rajasekharan R.
    J. Biol. Chem. 283:24525-24533(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, CHARACTERIZATION OF VARIANTS CDS PRO-130 AND LYS-260.
  10. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  11. "Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease."
    Schleinitz N., Fischer J., Sanchez A., Veit V., Harle J.-R., Pelissier J.-F.
    Arch. Dermatol. 141:798-800(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARG-82.
  12. "A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome."
    Ben Selma Z., Yilmaz S., Schischmanoff P.O., Blom A., Ozogul C., Laroche L., Caux F.
    J. Invest. Dermatol. 127:2273-2276(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CDS GLY-115.

Entry informationi

Entry nameiABHD5_HUMAN
AccessioniPrimary (citable) accession number: Q8WTS1
Secondary accession number(s): B2R9K0, Q9Y369
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: March 1, 2002
Last modified: October 29, 2014
This is version 120 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 3
    Human chromosome 3: 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. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3