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Q96SE0

- ABHD1_HUMAN

UniProt

Q96SE0 - ABHD1_HUMAN

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Protein

Abhydrolase domain-containing protein 1

Gene

ABHD1

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

  1. carboxylic ester hydrolase activity Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Serine esterase

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: Chromosome 2

Organism-specific databases

HGNCiHGNC:17553. ABHD1.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38459.

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.
GenevestigatoriQ96SE0.

Organism-specific databases

HPAiHPA044390.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000326491.

Structurei

3D structure databases

ProteinModelPortaliQ96SE0.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

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

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0429.
GeneTreeiENSGT00530000062981.
HOGENOMiHOG000230596.
HOVERGENiHBG053994.
InParanoidiQ96SE0.
KOiK13696.
OMAiGYQAVVF.
PhylomeDBiQ96SE0.
TreeFamiTF313195.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR012020. AB-Hydro_YheT.
IPR029058. AB_hydrolase.
IPR000952. UPF0017_hydro-like_CS.
[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. Align

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:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi308153404.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS1736.1. [Q96SE0-1 ]
RefSeqi NP_115993.3. NM_032604.3.
UniGenei Hs.375791.

3D structure databases

ProteinModelPortali Q96SE0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000326491.

PTM databases

PhosphoSitei Q96SE0.

Polymorphism databases

DMDMi 308153404.

Proteomic databases

PRIDEi Q96SE0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000316470 ; ENSP00000326491 ; ENSG00000143994 .
ENST00000448950 ; ENSP00000410756 ; ENSG00000143994 .
ENST00000621324 ; ENSP00000481238 ; ENSG00000143994 .
GeneIDi 84696.
KEGGi hsa:84696.
UCSCi uc002rit.3. human. [Q96SE0-1 ]

Organism-specific databases

CTDi 84696.
GeneCardsi GC02P027349.
HGNCi HGNC:17553. ABHD1.
HPAi HPA044390.
MIMi 612195. gene.
neXtProti NX_Q96SE0.
PharmGKBi PA38459.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0429.
GeneTreei ENSGT00530000062981.
HOGENOMi HOG000230596.
HOVERGENi HBG053994.
InParanoidi Q96SE0.
KOi K13696.
OMAi GYQAVVF.
PhylomeDBi Q96SE0.
TreeFami TF313195.

Miscellaneous databases

GenomeRNAii 84696.
NextBioi 35469704.
PROi Q96SE0.
SOURCEi Search...

Gene expression databases

Bgeei Q96SE0.
CleanExi HS_ABHD1.
Genevestigatori Q96SE0.

Family and domain databases

Gene3Di 3.40.50.1820. 1 hit.
InterProi IPR012020. AB-Hydro_YheT.
IPR029058. AB_hydrolase.
IPR000952. UPF0017_hydro-like_CS.
[Graphical view ]
PIRSFi PIRSF005211. Ab_hydro_YheT. 1 hit.
SUPFAMi SSF53474. SSF53474. 1 hit.
PROSITEi PS01133. UPF0017. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 89 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