UniProtKB - Q96SE0 (ABHD1_HUMAN)
Protein
Protein ABHD1
Gene
ABHD1
Organism
Homo sapiens (Human)
Status
Functioni
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 203 | Charge relay systemBy similarity | 1 | |
Active sitei | 329 | Charge relay systemBy similarity | 1 | |
Active sitei | 358 | Charge relay systemBy similarity | 1 |
GO - Molecular functioni
- acetylesterase activity Source: GO_Central
- acylglycerol lipase activity Source: GO_Central
- short-chain carboxylesterase activity Source: GO_Central
GO - Biological processi
- cellular lipid metabolic process Source: GO_Central
- medium-chain fatty acid biosynthetic process Source: GO_Central
- medium-chain fatty acid catabolic process Source: GO_Central
Keywordsi
Molecular function | Hydrolase, Serine esterase |
Enzyme and pathway databases
PathwayCommonsi | Q96SE0 |
Protein family/group databases
ESTHERi | human-ABHD1, abh_upf0017 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein ABHD1Curated (EC:3.1.1.-)Alternative name(s): Alpha/beta hydrolase domain-containing protein 1Curated Short name: Abhydrolase domain-containing protein 1Imported Lung alpha/beta hydrolase 1 |
Gene namesi | |
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:ENSG00000143994.13 |
HGNCi | HGNC:17553, ABHD1 |
MIMi | 612195, gene |
neXtProti | NX_Q96SE0 |
Subcellular locationi
Other locations
- Membrane Curated; Single-pass type II membrane protein Curated
Other locations
- integral component of membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 17 – 37 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 84696 |
PharmGKBi | PA38459 |
Miscellaneous databases
Pharosi | Q96SE0, Tdark |
Polymorphism and mutation databases
BioMutai | ABHD1 |
DMDMi | 308153404 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000280204 | 1 – 405 | Protein ABHD1Add BLAST | 405 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 10 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | Q96SE0 |
MassIVEi | Q96SE0 |
PaxDbi | Q96SE0 |
PeptideAtlasi | Q96SE0 |
PRIDEi | Q96SE0 |
ProteomicsDBi | 19734 78107 [Q96SE0-1] |
PTM databases
GlyGeni | Q96SE0, 1 site |
iPTMneti | Q96SE0 |
PhosphoSitePlusi | Q96SE0 |
Expressioni
Tissue specificityi
Ubiquitously expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000143994, Expressed in right testis and 115 other tissues |
ExpressionAtlasi | Q96SE0, baseline and differential |
Genevisiblei | Q96SE0, HS |
Organism-specific databases
HPAi | ENSG00000143994, Tissue enriched (testis) |
Interactioni
Binary interactionsi
Q96SE0
With | #Exp. | IntAct |
---|---|---|
KASH5 [Q8N6L0] | 3 | EBI-10293349,EBI-749265 |
Protein-protein interaction databases
BioGRIDi | 124211, 1 interactor |
IntActi | Q96SE0, 1 interactor |
STRINGi | 9606.ENSP00000326491 |
Miscellaneous databases
RNActi | Q96SE0, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 123 – 364 | AB hydrolase-1Sequence analysisAdd BLAST | 242 |
Sequence similaritiesi
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1838, Eukaryota |
HOGENOMi | CLU_912033_0_0_1 |
InParanoidi | Q96SE0 |
OrthoDBi | 1162019at2759 |
PhylomeDBi | Q96SE0 |
TreeFami | TF313195 |
Family and domain databases
Gene3Di | 3.40.50.1820, 1 hit |
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR000073, AB_hydrolase_1 IPR000952, AB_hydrolase_4_CS IPR012020, ABHD4 |
Pfami | View protein in Pfam PF00561, Abhydrolase_1, 1 hit |
PIRSFi | PIRSF005211, Ab_hydro_YheT, 1 hit |
SUPFAMi | SSF53474, SSF53474, 1 hit |
PROSITEi | View protein in PROSITE PS01133, UPF0017, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96SE0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLSSFLSPQN GTWADTFSLL LALAVALYLG YYWACVLQRP RLVAGPQFLA
60 70 80 90 100
FLEPHCSITT ETFYPTLWCF EGRLQSIFQV LLQSQPLVLY QSDILQTPDG
110 120 130 140 150
GQLLLDWAKQ PDSSQDPDPT TQPIVLLLPG ITGSSQDTYV LHLVNQALRD
160 170 180 190 200
GYQAVVFNNR GCRGEELRTH RAFCASNTED LETVVNHIKH RYPQAPLLAV
210 220 230 240 250
GISFGGILVL NHLAQARQAA GLVAALTLSA CWDSFETTRS LETPLNSLLF
260 270 280 290 300
NQPLTAGLCQ LVERNRKVIE KVVDIDFVLQ ARTIRQFDER YTSVAFGYQD
310 320 330 340 350
CVTYYKAASP RTKIDAIRIP VLYLSAADDP FSPVCALPIQ AAQHSPYVAL
360 370 380 390 400
LITARGGHIG FLEGLLPWQH WYMSRLLHQY AKAIFQDPEG LPDLRALLPS
EDRNS
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8WBB3 | F8WBB3_HUMAN | Abhydrolase domain containing 1, is... | ABHD1 hCG_23726 | 102 | Annotation score: | ||
C9J8C2 | C9J8C2_HUMAN | Protein ABHD1 | ABHD1 | 177 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052484 | 54 | P → Q. Corresponds to variant dbSNP:rs34127901Ensembl. | 1 | |
Natural variantiVAR_031087 | 137 | D → E3 PublicationsCorresponds to variant dbSNP:rs6715286Ensembl. | 1 | |
Natural variantiVAR_031088 | 371 | W → C. Corresponds to variant dbSNP:rs2304678Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054269 | 265 – 305 | NRKVI…CVTYY → LSYGKTCRPVQSASLMSATH LWPLDIKTVLPTTKQQALEP R in isoform 2. 1 PublicationAdd BLAST | 41 | |
Alternative sequenceiVSP_054270 | 306 – 405 | Missing in isoform 2. 1 PublicationAdd BLAST | 100 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY033290 mRNA Translation: AAK44222.1 AK093447 mRNA Translation: BAG52718.1 AC013403 Genomic DNA Translation: AAX93169.1 CH471053 Genomic DNA Translation: EAX00633.1 BC039576 mRNA Translation: AAH39576.2 |
CCDSi | CCDS1736.1 [Q96SE0-1] |
RefSeqi | NP_115993.3, NM_032604.3 XP_011531438.1, XM_011533136.2 |
Genome annotation databases
Ensembli | ENST00000316470; ENSP00000326491; ENSG00000143994 ENST00000448950; ENSP00000410756; ENSG00000143994 ENST00000621324; ENSP00000481238; ENSG00000143994 |
GeneIDi | 84696 |
KEGGi | hsa:84696 |
UCSCi | uc002rit.4, human [Q96SE0-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY033290 mRNA Translation: AAK44222.1 AK093447 mRNA Translation: BAG52718.1 AC013403 Genomic DNA Translation: AAX93169.1 CH471053 Genomic DNA Translation: EAX00633.1 BC039576 mRNA Translation: AAH39576.2 |
CCDSi | CCDS1736.1 [Q96SE0-1] |
RefSeqi | NP_115993.3, NM_032604.3 XP_011531438.1, XM_011533136.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124211, 1 interactor |
IntActi | Q96SE0, 1 interactor |
STRINGi | 9606.ENSP00000326491 |
Protein family/group databases
ESTHERi | human-ABHD1, abh_upf0017 |
PTM databases
GlyGeni | Q96SE0, 1 site |
iPTMneti | Q96SE0 |
PhosphoSitePlusi | Q96SE0 |
Polymorphism and mutation databases
BioMutai | ABHD1 |
DMDMi | 308153404 |
Proteomic databases
jPOSTi | Q96SE0 |
MassIVEi | Q96SE0 |
PaxDbi | Q96SE0 |
PeptideAtlasi | Q96SE0 |
PRIDEi | Q96SE0 |
ProteomicsDBi | 19734 78107 [Q96SE0-1] |
Protocols and materials databases
Antibodypediai | 28175, 128 antibodies |
Genome annotation databases
Ensembli | ENST00000316470; ENSP00000326491; ENSG00000143994 ENST00000448950; ENSP00000410756; ENSG00000143994 ENST00000621324; ENSP00000481238; ENSG00000143994 |
GeneIDi | 84696 |
KEGGi | hsa:84696 |
UCSCi | uc002rit.4, human [Q96SE0-1] |
Organism-specific databases
CTDi | 84696 |
DisGeNETi | 84696 |
EuPathDBi | HostDB:ENSG00000143994.13 |
GeneCardsi | ABHD1 |
HGNCi | HGNC:17553, ABHD1 |
HPAi | ENSG00000143994, Tissue enriched (testis) |
MIMi | 612195, gene |
neXtProti | NX_Q96SE0 |
PharmGKBi | PA38459 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1838, Eukaryota |
HOGENOMi | CLU_912033_0_0_1 |
InParanoidi | Q96SE0 |
OrthoDBi | 1162019at2759 |
PhylomeDBi | Q96SE0 |
TreeFami | TF313195 |
Enzyme and pathway databases
PathwayCommonsi | Q96SE0 |
Miscellaneous databases
BioGRID-ORCSi | 84696, 3 hits in 842 CRISPR screens |
ChiTaRSi | ABHD1, human |
GenomeRNAii | 84696 |
Pharosi | Q96SE0, Tdark |
PROi | PR:Q96SE0 |
RNActi | Q96SE0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143994, Expressed in right testis and 115 other tissues |
ExpressionAtlasi | Q96SE0, baseline and differential |
Genevisiblei | Q96SE0, HS |
Family and domain databases
Gene3Di | 3.40.50.1820, 1 hit |
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR000073, AB_hydrolase_1 IPR000952, AB_hydrolase_4_CS IPR012020, ABHD4 |
Pfami | View protein in Pfam PF00561, Abhydrolase_1, 1 hit |
PIRSFi | PIRSF005211, Ab_hydro_YheT, 1 hit |
SUPFAMi | SSF53474, SSF53474, 1 hit |
PROSITEi | View protein in PROSITE PS01133, UPF0017, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ABHD1_HUMAN | |
Accessioni | Q96SE0Primary (citable) accession number: Q96SE0 Secondary accession number(s): B3KSF6 Q8IXQ7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 20, 2007 |
Last sequence update: | October 5, 2010 | |
Last modified: | December 2, 2020 | |
This is version 129 of the entry and version 2 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations