Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein ABHD1

Gene

ABHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei203Charge relay systemBy similarity1
Active sitei329Charge relay systemBy similarity1
Active sitei358Charge relay systemBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Serine esterase

Protein family/group databases

ESTHERihuman-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
Name:ABHD1Imported
Synonyms:LABH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:17553. ABHD1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei17 – 37Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38459.

Polymorphism and mutation databases

BioMutaiABHD1.
DMDMi308153404.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002802041 – 405Protein ABHD1Add BLAST405

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi10N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96SE0.
PeptideAtlasiQ96SE0.
PRIDEiQ96SE0.

PTM databases

iPTMnetiQ96SE0.
PhosphoSitePlusiQ96SE0.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000143994.
CleanExiHS_ABHD1.
ExpressionAtlasiQ96SE0. baseline and differential.
GenevisibleiQ96SE0. HS.

Organism-specific databases

HPAiHPA044390.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC155Q8N6L03EBI-10293349,EBI-749265

Protein-protein interaction databases

BioGridi124211. 1 interactor.
IntActiQ96SE0. 1 interactor.
STRINGi9606.ENSP00000326491.

Structurei

3D structure databases

ProteinModelPortaliQ96SE0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini123 – 364AB hydrolase-1Sequence analysisAdd BLAST242

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1838. Eukaryota.
COG0429. LUCA.
HOGENOMiHOG000230596.
HOVERGENiHBG053994.
InParanoidiQ96SE0.
KOiK13696.
OrthoDBiEOG091G08YN.
PhylomeDBiQ96SE0.
TreeFamiTF313195.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiView protein in InterPro
IPR029058. AB_hydrolase.
IPR000073. AB_hydrolase_1.
IPR000952. AB_hydrolase_4_CS.
IPR012020. ABHD4.
PfamiView protein in Pfam
PF00561. Abhydrolase_1. 1 hit.
PIRSFiPIRSF005211. Ab_hydro_YheT. 1 hit.
SUPFAMiSSF53474. SSF53474. 1 hit.
PROSITEiView protein in PROSITE
PS01133. UPF0017. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96SE0-1) [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
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
Length:405
Mass (Da):45,207
Last modified:October 5, 2010 - v2
Checksum:i1D0BDEB8FB79C511
GO
Isoform 2 (identifier: Q96SE0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     265-305: NRKVIEKVVD...FGYQDCVTYY → LSYGKTCRPV...TTKQQALEPR
     306-405: Missing.

Note: No experimental confirmation available.
Show »
Length:305
Mass (Da):33,754
Checksum:iD1E61C49C33DB947
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05248454P → Q. Corresponds to variant dbSNP:rs34127901Ensembl.1
Natural variantiVAR_031087137D → E3 PublicationsCorresponds to variant dbSNP:rs6715286Ensembl.1
Natural variantiVAR_031088371W → C. Corresponds to variant dbSNP:rs2304678Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054269265 – 305NRKVI…CVTYY → LSYGKTCRPVQSASLMSATH LWPLDIKTVLPTTKQQALEP R in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_054270306 – 405Missing in isoform 2. 1 PublicationAdd BLAST100

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.
CCDSiCCDS1736.1. [Q96SE0-1]
RefSeqiNP_115993.3. NM_032604.3.
XP_011531438.1. XM_011533136.2.
UniGeneiHs.375791.

Genome annotation databases

EnsembliENST00000316470; ENSP00000326491; ENSG00000143994.
ENST00000448950; ENSP00000410756; ENSG00000143994.
ENST00000621324; ENSP00000481238; ENSG00000143994.
GeneIDi84696.
KEGGihsa:84696.
UCSCiuc002rit.4. human. [Q96SE0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiABHD1_HUMAN
AccessioniPrimary (citable) accession number: Q96SE0
Secondary accession number(s): B3KSF6
, E9PDR9, Q05BY3, Q53SZ1, Q8IXQ7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 5, 2010
Last modified: May 10, 2017
This is version 111 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 2
    Human chromosome 2: 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. SIMILARITY comments
    Index of protein domains and families