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Q8N2K0

- ABD12_HUMAN

UniProt

Q8N2K0 - ABD12_HUMAN

Protein

Monoacylglycerol lipase ABHD12

Gene

ABHD12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 2 (28 Nov 2003)
      Previous versions | rss
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    Functioni

    Lysophosphatidylserine (LPS) lipase, that plays a key role in the central nervous system. Represents a major LPS lipase in the brain. Has 2-arachidonoylglycerol (2-AG) hydrolase activity. May act as a regulator of endocannabinoid signaling pathways.1 Publication

    Catalytic activityi

    Hydrolyzes glycerol monoesters of long-chain fatty acids.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei246 – 2461Charge relay systemBy similarity
    Active sitei333 – 3331Charge relay systemBy similarity
    Active sitei372 – 3721Charge relay systemBy similarity

    GO - Molecular functioni

    1. acylglycerol lipase activity Source: UniProtKB-EC

    GO - Biological processi

    1. adult walking behavior Source: Ensembl
    2. phosphatidylserine catabolic process Source: Ensembl
    3. response to auditory stimulus Source: Ensembl

    Keywords - Molecular functioni

    Hydrolase

    Protein family/group databases

    MEROPSiS09.054.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Monoacylglycerol lipase ABHD12 (EC:3.1.1.23)
    Alternative name(s):
    2-arachidonoylglycerol hydrolase
    Abhydrolase domain-containing protein 12
    Gene namesi
    Name:ABHD12
    Synonyms:C20orf22
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:15868. ABHD12.

    Subcellular locationi

    Membrane By similarity; Single-pass membrane protein By similarity

    GO - Cellular componenti

    1. alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]: A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Cataract, Deafness, Neuropathy, Retinitis pigmentosa

    Organism-specific databases

    MIMi612674. phenotype.
    Orphaneti171848. Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract.
    PharmGKBiPA25738.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 398398Monoacylglycerol lipase ABHD12PRO_0000079413Add
    BLAST

    Post-translational modificationi

    Glycosylated.By similarity

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8N2K0.
    PaxDbiQ8N2K0.
    PRIDEiQ8N2K0.

    PTM databases

    PhosphoSiteiQ8N2K0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N2K0.
    BgeeiQ8N2K0.
    CleanExiHS_ABHD12.
    GenevestigatoriQ8N2K0.

    Organism-specific databases

    HPAiHPA026866.

    Interactioni

    Protein-protein interaction databases

    BioGridi117541. 3 interactions.
    IntActiQ8N2K0. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N2K0.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 7474CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini96 – 398303ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei75 – 9521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi20 – 256Poly-Ser
    Compositional biasi26 – 294Poly-Ala

    Sequence similaritiesi

    Belongs to the serine esterase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1073.
    HOVERGENiHBG051152.
    KOiK13704.
    OMAiGPAEPRC.
    PhylomeDBiQ8N2K0.
    TreeFamiTF315122.

    Family and domain databases

    Gene3Di3.40.50.1820. 2 hits.
    InterProiIPR029058. AB_hydrolase.
    IPR029059. AB_hydrolase_5.
    IPR026605. ABHD12.
    [Graphical view]
    PANTHERiPTHR12277:SF47. PTHR12277:SF47. 1 hit.
    PfamiPF12695. Abhydrolase_5. 1 hit.
    [Graphical view]
    SUPFAMiSSF53474. SSF53474. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N2K0-1) [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

    MRKRTEPVAL EHERCAAAGS SSSGSAAAAL DADCRLKQNL RLTGPAAAEP    50
    RCAADAGMKR ALGRRKGVWL RLRKILFCVL GLYIAIPFLI KLCPGIQAKL 100
    IFLNFVRVPY FIDLKKPQDQ GLNHTCNYYL QPEEDVTIGV WHTVPAVWWK 150
    NAQGKDQMWY EDALASSHPI ILYLHGNAGT RGGDHRVELY KVLSSLGYHV 200
    VTFDYRGWGD SVGTPSERGM TYDALHVFDW IKARSGDNPV YIWGHSLGTG 250
    VATNLVRRLC ERETPPDALI LESPFTNIRE EAKSHPFSVI YRYFPGFDWF 300
    FLDPITSSGI KFANDENVKH ISCPLLILHA EDDPVVPFQL GRKLYSIAAP 350
    ARSFRDFKVQ FVPFHSDLGY RHKYIYKSPE LPRILREFLG KSEPEHQH 398
    Length:398
    Mass (Da):45,097
    Last modified:November 28, 2003 - v2
    Checksum:iE21425C1412B5607
    GO
    Isoform 2 (identifier: Q8N2K0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         387-398: EFLGKSEPEHQH → PQQGPGSSPDPSMWSELV

    Show »
    Length:404
    Mass (Da):45,558
    Checksum:i9BB2A5E05E8BA15F
    GO
    Isoform 3 (identifier: Q8N2K0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         11-48: Missing.

    Show »
    Length:360
    Mass (Da):41,387
    Checksum:i0F9E42F1D556B0E6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti359 – 3591V → I in BAF83504. (PubMed:14702039)Curated
    Sequence conflicti376 – 3761Y → C in BAC11357. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti349 – 3491A → T.
    Corresponds to variant rs746748 [ dbSNP | Ensembl ].
    VAR_050630

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei11 – 4838Missing in isoform 3. 1 PublicationVSP_037372Add
    BLAST
    Alternative sequencei387 – 39812EFLGK…PEHQH → PQQGPGSSPDPSMWSELV in isoform 2. 1 PublicationVSP_009097Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK075023 mRNA. Translation: BAC11357.1.
    AK290815 mRNA. Translation: BAF83504.1.
    AK293495 mRNA. Translation: BAG56982.1.
    AL121772, AL353812 Genomic DNA. Translation: CAI23474.1.
    AL121772, AL353812 Genomic DNA. Translation: CAI23475.1.
    AL353812, AL121772 Genomic DNA. Translation: CAI13762.1.
    AL353812, AL121772 Genomic DNA. Translation: CAI13763.1.
    CH471133 Genomic DNA. Translation: EAX10089.1.
    BC014049 mRNA. Translation: AAH14049.1.
    AL117442 mRNA. Translation: CAB55927.1.
    CCDSiCCDS13172.1. [Q8N2K0-2]
    CCDS42857.1. [Q8N2K0-1]
    PIRiT17237.
    RefSeqiNP_001035937.1. NM_001042472.2. [Q8N2K0-1]
    NP_056415.1. NM_015600.4. [Q8N2K0-2]
    UniGeneiHs.441550.

    Genome annotation databases

    EnsembliENST00000339157; ENSP00000341408; ENSG00000100997. [Q8N2K0-1]
    ENST00000376542; ENSP00000365725; ENSG00000100997. [Q8N2K0-2]
    GeneIDi26090.
    KEGGihsa:26090.
    UCSCiuc002wuq.3. human. [Q8N2K0-2]
    uc002wus.2. human. [Q8N2K0-1]

    Polymorphism databases

    DMDMi38604894.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK075023 mRNA. Translation: BAC11357.1 .
    AK290815 mRNA. Translation: BAF83504.1 .
    AK293495 mRNA. Translation: BAG56982.1 .
    AL121772 , AL353812 Genomic DNA. Translation: CAI23474.1 .
    AL121772 , AL353812 Genomic DNA. Translation: CAI23475.1 .
    AL353812 , AL121772 Genomic DNA. Translation: CAI13762.1 .
    AL353812 , AL121772 Genomic DNA. Translation: CAI13763.1 .
    CH471133 Genomic DNA. Translation: EAX10089.1 .
    BC014049 mRNA. Translation: AAH14049.1 .
    AL117442 mRNA. Translation: CAB55927.1 .
    CCDSi CCDS13172.1. [Q8N2K0-2 ]
    CCDS42857.1. [Q8N2K0-1 ]
    PIRi T17237.
    RefSeqi NP_001035937.1. NM_001042472.2. [Q8N2K0-1 ]
    NP_056415.1. NM_015600.4. [Q8N2K0-2 ]
    UniGenei Hs.441550.

    3D structure databases

    ProteinModelPortali Q8N2K0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117541. 3 interactions.
    IntActi Q8N2K0. 1 interaction.

    Chemistry

    BindingDBi Q8N2K0.
    ChEMBLi CHEMBL5516.

    Protein family/group databases

    MEROPSi S09.054.

    PTM databases

    PhosphoSitei Q8N2K0.

    Polymorphism databases

    DMDMi 38604894.

    Proteomic databases

    MaxQBi Q8N2K0.
    PaxDbi Q8N2K0.
    PRIDEi Q8N2K0.

    Protocols and materials databases

    DNASUi 26090.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000339157 ; ENSP00000341408 ; ENSG00000100997 . [Q8N2K0-1 ]
    ENST00000376542 ; ENSP00000365725 ; ENSG00000100997 . [Q8N2K0-2 ]
    GeneIDi 26090.
    KEGGi hsa:26090.
    UCSCi uc002wuq.3. human. [Q8N2K0-2 ]
    uc002wus.2. human. [Q8N2K0-1 ]

    Organism-specific databases

    CTDi 26090.
    GeneCardsi GC20M025275.
    HGNCi HGNC:15868. ABHD12.
    HPAi HPA026866.
    MIMi 612674. phenotype.
    613599. gene.
    neXtProti NX_Q8N2K0.
    Orphaneti 171848. Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract.
    PharmGKBi PA25738.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1073.
    HOVERGENi HBG051152.
    KOi K13704.
    OMAi GPAEPRC.
    PhylomeDBi Q8N2K0.
    TreeFami TF315122.

    Miscellaneous databases

    ChiTaRSi ABHD12. human.
    GenomeRNAii 26090.
    NextBioi 48021.
    PROi Q8N2K0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N2K0.
    Bgeei Q8N2K0.
    CleanExi HS_ABHD12.
    Genevestigatori Q8N2K0.

    Family and domain databases

    Gene3Di 3.40.50.1820. 2 hits.
    InterProi IPR029058. AB_hydrolase.
    IPR029059. AB_hydrolase_5.
    IPR026605. ABHD12.
    [Graphical view ]
    PANTHERi PTHR12277:SF47. PTHR12277:SF47. 1 hit.
    Pfami PF12695. Abhydrolase_5. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53474. SSF53474. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 1 AND 3).
      Tissue: Cerebellum, Kidney and Ovarian carcinoma.
    2. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 2).
      Tissue: Pancreas.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 152-398 (ISOFORM 1).
      Tissue: Testis.
    6. Cited for: INVOLVEMENT IN PHARC.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3."
      Eisenberger T., Slim R., Mansour A., Nauck M., Nurnberg G., Nurnberg P., Decker C., Dafinger C., Ebermann I., Bergmann C., Bolz H.J.
      Orphanet J. Rare Dis. 7:59-59(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN PHARC.
    9. "Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects."
      Chen D.H., Naydenov A., Blankman J.L., Mefford H.C., Davis M., Sul Y., Barloon A.S., Bonkowski E., Wolff J., Matsushita M., Smith C., Cravatt B.F., Mackie K., Raskind W.H., Stella N., Bird T.D.
      Hum. Mutat. 34:1672-1678(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INVOLVEMENT IN PHARC.

    Entry informationi

    Entry nameiABD12_HUMAN
    AccessioniPrimary (citable) accession number: Q8N2K0
    Secondary accession number(s): A6NED4
    , A6NJ90, A8K450, B4DE71, Q5T710, Q5T711, Q96CR1, Q9BX05, Q9NPX7, Q9UFV6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2003
    Last sequence update: November 28, 2003
    Last modified: October 1, 2014
    This is version 108 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

    Caution

    A family suffering from Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) was initially clinically diagnosed with Usher syndrome type 3. Reexamination of one affected member of this family revealed ataxia but not polyneuropathy, demonstrating the phenotypic heterogeneity in PHARC and the need for careful neurological assessments to distinguish this disease from other neuropathic disorders (PubMed:22938382).1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: 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