Reviewed, UniProtKB/Swiss-Prot Q96SE0 (ABHD1_HUMAN)

Names and origin

Protein names

Recommended name:
    Abhydrolase domain-containing protein 1
    EC=3.1.1.-
Alternative name(s):
    Lung alpha/beta hydrolase 1

Gene names

Name:	ABHD1
Synonyms:	LABH1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	405 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Subcellular location	Membrane; Single-pass type II membrane protein Potential.
Tissue specificity	Ubiquitously expressed. Ref.1
Sequence similarities	Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane
Molecular function	Hydrolase Serine esterase
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	integral to membrane Ref.1 Non-traceable author statement. Source: UniProtKB
Molecular function	carboxylesterase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96SE0-1)

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.

Isoform 2 (identifier: Q96SE0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     154-405: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 405	405	Abhydrolase domain-containing protein 1		PRO_0000280204
Regions
	Transmembrane	17 – 37	21	Signal-anchor for type II membrane protein Potential
Sites
	Active site	203	1	Charge relay system By similarity
	Active site	329	1	Charge relay system By similarity
	Active site	358	1	Charge relay system By similarity
Amino acid modifications
	Glycosylation	10	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	154 – 405	252	Missing in isoform 2.		VSP_023563
	Natural variant	54	1	P → Q: dbSNP rs34127901.		VAR_052484
	Natural variant	137	1	E → D: dbSNP rs6715286. Ref.2		VAR_031087
	Natural variant	371	1	W → C: dbSNP rs2304678.		VAR_031088

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 1DC0BFB8FB2CD411	FASTA	405	45,221
	10 20 30 40 50 60 MLSSFLSPQN GTWADTFSLL LALAVALYLG YYWACVLQRP RLVAGPQFLA FLEPHCSITT 70 80 90 100 110 120 ETFYPTLWCF EGRLQSIFQV LLQSQPLVLY QSDILQTPDG GQLLLDWAKQ PDSSQDPDPT 130 140 150 160 170 180 TQPIVLLLPG ITGSSQETYV LHLVNQALRD GYQAVVFNNR GCRGEELRTH RAFCASNTED 190 200 210 220 230 240 LETVVNHIKH RYPQAPLLAV GISFGGILVL NHLAQARQAA GLVAALTLSA CWDSFETTRS 250 260 270 280 290 300 LETPLNSLLF NQPLTAGLCQ LVERNRKVIE KVVDIDFVLQ ARTIRQFDER YTSVAFGYQD 310 320 330 340 350 360 CVTYYKAASP RTKIDAIRIP VLYLSAADDP FSPVCALPIQ AAQHSPYVAL LITARGGHIG 370 380 390 400 FLEGLLPWQH WYMSRLLHQY AKAIFQDPEG LPDLRALLPS EDRNS
	Isoform 2. Checksum: C93A428B951167B0	FASTA	153	17,122
	10 20 30 40 50 60 MLSSFLSPQN GTWADTFSLL LALAVALYLG YYWACVLQRP RLVAGPQFLA FLEPHCSITT 70 80 90 100 110 120 ETFYPTLWCF EGRLQSIFQV LLQSQPLVLY QSDILQTPDG GQLLLDWAKQ PDSSQDPDPT 130 140 150 TQPIVLLLPG ITGSSQETYV LHLVNQALRD GYQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12." Edgar A.J. BMC Genomics 4:18-18(2003) [PubMed: 12735795] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Lung.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASP-137.
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY033290 mRNA. Translation: AAK44222.1. AC013403 Genomic DNA. Translation: AAX93169.1. BC031868 mRNA. Translation: AAH31868.1. BC039576 mRNA. Translation: AAH39576.2.
IPI	IPI00604795. IPI00829770.
RefSeq	NP_115993.3.
UniGene	Hs.375791
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q96SE0.
Proteomic databases
PRIDE	Q96SE0.
Genome annotation databases
Ensembl	ENST00000316470; ENSP00000326491; ENSG00000143994; Homo sapiens. [Genome view]
GeneID	84696.
KEGG	hsa:84696.
UCSC	uc002rit.1. human.
Organism-specific databases
CTD	84696.
GeneCards	GC02P027258.
HGNC	HGNC:17553. ABHD1.
PharmGKB	PA38459.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q96SE0.
Gene expression databases
ArrayExpress	Q96SE0.
Bgee	Q96SE0.
CleanEx	HS_ABHD1.
Genevestigator	Q96SE0.
Family and domain databases
InterPro	IPR012020. AB-Hydro_YheT. IPR000952. UPF0017_hydro-like_CS. [Graphical view]
PIRSF	PIRSF005211. Ab_hydro_YheT. 1 hit.
PROSITE	PS01133. UPF0017. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	74772.

Entry information

Entry name

ABHD1_HUMAN

Accession

Primary (citable) accession number: Q96SE0
Secondary accession number(s): Q05BY3, Q53SZ1, Q8IXQ7

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 20, 2007
Last sequence update:	December 1, 2001
Last modified:	November 24, 2009
This is version 55 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.