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Q96SE0 (ABHD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Abhydrolase domain-containing protein 1

EC=3.1.1.-
Alternative name(s):
Lung alpha/beta hydrolase 1
Gene names
Name:ABHD1
Synonyms:LABH1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length405 AA.
Sequence statusComplete.
Protein existenceEvidence 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 componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   Molecular functionHydrolase
Serine esterase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Non-traceable author statement Ref.1. Source: UniProtKB

   Molecular_functionhydrolase 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: Q96SE0-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 405405Abhydrolase domain-containing protein 1
PRO_0000280204

Regions

Transmembrane17 – 3721Helical; Signal-anchor for type II membrane protein; Potential

Sites

Active site2031Charge relay system By similarity
Active site3291Charge relay system By similarity
Active site3581Charge relay system By similarity

Amino acid modifications

Glycosylation101N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence265 – 30541NRKVI…CVTYY → LSYGKTCRPVQSASLMSATH LWPLDIKTVLPTTKQQALEP R in isoform 2.
VSP_054269
Alternative sequence306 – 405100Missing in isoform 2.
VSP_054270
Natural variant541P → Q.
Corresponds to variant rs34127901 [ dbSNP | Ensembl ].
VAR_052484
Natural variant1371D → E. Ref.1 Ref.2 Ref.5
Corresponds to variant rs6715286 [ dbSNP | Ensembl ].
VAR_031087
Natural variant3711W → C.
Corresponds to variant rs2304678 [ dbSNP | Ensembl ].
VAR_031088

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 5, 2010. Version 2.
Checksum: 1D0BDEB8FB79C511

FASTA40545,207
        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 ITGSSQDTYV 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 

« Hide

Isoform 2 [UniParc].

Checksum: D1E61C49C33DB947
Show »

FASTA30533,754

References

« Hide '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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT GLU-137.
Tissue: Lung.
[2]"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. expand/collapse author list , 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] (ISOFORM 2), VARIANT GLU-137.
Tissue: Testis.
[3]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORM 1), VARIANT GLU-137.
Tissue: Brain.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS1736.1.
RefSeqNP_115993.3. NM_032604.3.
UniGeneHs.375791.

3D structure databases

ProteinModelPortalQ96SE0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000326491.

PTM databases

PhosphoSiteQ96SE0.

Polymorphism databases

DMDM308153404.

Proteomic databases

PRIDEQ96SE0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316470; ENSP00000326491; ENSG00000143994.
ENST00000448950; ENSP00000410756; ENSG00000143994.
GeneID84696.
KEGGhsa:84696.
UCSCuc002rit.3. human. [Q96SE0-1]

Organism-specific databases

CTD84696.
GeneCardsGC02P027349.
HGNCHGNC:17553. ABHD1.
HPAHPA044390.
MIM612195. gene.
neXtProtNX_Q96SE0.
PharmGKBPA38459.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0429.
HOGENOMHOG000230596.
HOVERGENHBG053994.
InParanoidQ96SE0.
KOK13696.
OMAGYQAVVF.
PhylomeDBQ96SE0.
TreeFamTF313195.

Gene expression databases

ArrayExpressQ96SE0.
BgeeQ96SE0.
CleanExHS_ABHD1.
GenevestigatorQ96SE0.

Family and domain databases

Gene3D3.40.50.1820. 1 hit.
InterProIPR012020. AB-Hydro_YheT.
IPR029058. AB_hydrolase.
IPR000952. UPF0017_hydro-like_CS.
[Graphical view]
PIRSFPIRSF005211. Ab_hydro_YheT. 1 hit.
SUPFAMSSF53474. SSF53474. 1 hit.
PROSITEPS01133. UPF0017. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi84696.
NextBio35469704.
PROQ96SE0.
SOURCESearch...

Entry information

Entry nameABHD1_HUMAN
AccessionPrimary (citable) accession number: Q96SE0
Secondary accession number(s): B3KSF6 expand/collapse secondary AC list , E9PDR9, Q05BY3, Q53SZ1, Q8IXQ7
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 5, 2010
Last modified: July 9, 2014
This is version 86 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM