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Protein

Abhydrolase domain-containing protein 1

Gene

ABHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei203 – 2031Charge relay systemBy similarity
Active sitei329 – 3291Charge relay systemBy similarity
Active sitei358 – 3581Charge relay systemBy similarity

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Serine esterase

Protein family/group databases

ESTHERihuman-ABHD1. abh_upf0017.

Names & Taxonomyi

Protein namesi
Recommended name:
Abhydrolase domain-containing protein 1 (EC:3.1.1.-)
Alternative name(s):
Lung alpha/beta hydrolase 1
Gene namesi
Name:ABHD1
Synonyms:LABH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:17553. ABHD1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei17 – 3721Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38459.

Polymorphism and mutation databases

BioMutaiABHD1.
DMDMi308153404.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 405405Abhydrolase domain-containing protein 1PRO_0000280204Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi10 – 101N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PRIDEiQ96SE0.

PTM databases

PhosphoSiteiQ96SE0.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiQ96SE0.
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 interaction.
IntActiQ96SE0. 1 interaction.
STRINGi9606.ENSP00000326491.

Structurei

3D structure databases

ProteinModelPortaliQ96SE0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0429.
HOGENOMiHOG000230596.
HOVERGENiHBG053994.
InParanoidiQ96SE0.
KOiK13696.
OMAiGYQAVVF.
OrthoDBiEOG70PBXF.
PhylomeDBiQ96SE0.
TreeFamiTF313195.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR000073. AB_hydrolase_1.
IPR012020. ABHD1/2/3.
IPR000952. UPF0017_hydro-like_CS.
[Graphical view]
PfamiPF12697. Abhydrolase_6. 1 hit.
[Graphical view]
PIRSFiPIRSF005211. Ab_hydro_YheT. 1 hit.
SUPFAMiSSF53474. SSF53474. 1 hit.
PROSITEiPS01133. UPF0017. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541P → Q.
Corresponds to variant rs34127901 [ dbSNP | Ensembl ].
VAR_052484
Natural varianti137 – 1371D → E.3 Publications
Corresponds to variant rs6715286 [ dbSNP | Ensembl ].
VAR_031087
Natural varianti371 – 3711W → C.
Corresponds to variant rs2304678 [ dbSNP | Ensembl ].
VAR_031088

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei265 – 30541NRKVI…CVTYY → LSYGKTCRPVQSASLMSATH LWPLDIKTVLPTTKQQALEP R in isoform 2. 1 PublicationVSP_054269Add
BLAST
Alternative sequencei306 – 405100Missing in isoform 2. 1 PublicationVSP_054270Add
BLAST

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.
UniGeneiHs.375791.

Genome annotation databases

EnsembliENST00000316470; ENSP00000326491; ENSG00000143994.
ENST00000448950; ENSP00000410756; ENSG00000143994.
ENST00000621324; ENSP00000481238; ENSG00000143994.
GeneIDi84696.
KEGGihsa:84696.
UCSCiuc002rit.3. human. [Q96SE0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

3D structure databases

ProteinModelPortaliQ96SE0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124211. 1 interaction.
IntActiQ96SE0. 1 interaction.
STRINGi9606.ENSP00000326491.

Protein family/group databases

ESTHERihuman-ABHD1. abh_upf0017.

PTM databases

PhosphoSiteiQ96SE0.

Polymorphism and mutation databases

BioMutaiABHD1.
DMDMi308153404.

Proteomic databases

PRIDEiQ96SE0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316470; ENSP00000326491; ENSG00000143994.
ENST00000448950; ENSP00000410756; ENSG00000143994.
ENST00000621324; ENSP00000481238; ENSG00000143994.
GeneIDi84696.
KEGGihsa:84696.
UCSCiuc002rit.3. human. [Q96SE0-1]

Organism-specific databases

CTDi84696.
GeneCardsiGC02P027349.
HGNCiHGNC:17553. ABHD1.
HPAiHPA044390.
MIMi612195. gene.
neXtProtiNX_Q96SE0.
PharmGKBiPA38459.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0429.
HOGENOMiHOG000230596.
HOVERGENiHBG053994.
InParanoidiQ96SE0.
KOiK13696.
OMAiGYQAVVF.
OrthoDBiEOG70PBXF.
PhylomeDBiQ96SE0.
TreeFamiTF313195.

Miscellaneous databases

GenomeRNAii84696.
NextBioi35469704.
PROiQ96SE0.
SOURCEiSearch...

Gene expression databases

BgeeiQ96SE0.
CleanExiHS_ABHD1.
ExpressionAtlasiQ96SE0. baseline and differential.
GenevisibleiQ96SE0. HS.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR000073. AB_hydrolase_1.
IPR012020. ABHD1/2/3.
IPR000952. UPF0017_hydro-like_CS.
[Graphical view]
PfamiPF12697. Abhydrolase_6. 1 hit.
[Graphical view]
PIRSFiPIRSF005211. Ab_hydro_YheT. 1 hit.
SUPFAMiSSF53474. SSF53474. 1 hit.
PROSITEiPS01133. UPF0017. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

Entry informationi

Entry nameiABHD1_HUMAN
AccessioniPrimary (citable) accession number: Q96SE0
Secondary accession number(s): B3KSF6
, E9PDR9, Q05BY3, Q53SZ1, Q8IXQ7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 5, 2010
Last modified: June 24, 2015
This is version 96 of the entry and version 2 of the sequence. [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

External Data

Dasty 3

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 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.