ABHD1 (abhydrolase domain containing 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84696
Gene name Gene Name - the full gene name approved by the HGNC.
Abhydrolase domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABHD1
Synonyms (NCBI Gene) Gene synonyms aliases
LABH1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, J
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 25416956
GO:0008126 Function Acetylesterase activity IBA 21873635
GO:0008150 Process Biological_process ND
GO:0016021 Component Integral component of membrane NAS 12735795
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612195 17553 ENSG00000143994
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96SE0
Protein name Protein ABHD1 (EC 3.1.1.-) (Alpha/beta hydrolase domain-containing protein 1) (Abhydrolase domain-containing protein 1) (Lung alpha/beta hydrolase 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00561 Abhydrolase_1 123 → 365 alpha/beta hydrolase fold Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12735795}.
Sequence 
MLSSFLSPQNGTWADTFSLLLALAVALYLGYYWACVLQRPRLVAGPQFLAFLEPHCSITT
ETFYPTLWCFEGRLQSIFQVLLQSQPLVLYQSDILQTPDGGQLLLDWAKQPDSSQDPDPT
TQPIVLLLPGITGSSQDTYVLHLVNQALRDGYQAVVFNNRGCRGEELRTHRAFCASNTED
LETVVNHIKHRYPQAPLLAVGISFGGILVLNHLAQARQAAGLVAALTLSACWDSFETTRS
LETPLNSLLFNQPLTAGLCQLVERNRKVIEKVVDIDFVLQARTIRQFDERYTSVAFGYQD
CVTYYKAASPRTKIDAIRIPVLYLSAADDPFSPVCALPIQAAQHSPYVALLITARGGHIG
FLEGLLPWQHWYMSRLLHQYAKAIFQDPEGLPDLRALLPSEDRNS
Sequence length 405
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)		 19196962
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Alzheimer disease Alzheimer disease GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Diabetic Retinopathy Stimulate 39619568
Hirschsprung Disease Associate 34545688