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Q8N2K0

- ABD12_HUMAN

UniProt

Q8N2K0 - ABD12_HUMAN

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Protein

Monoacylglycerol lipase ABHD12

Gene
ABHD12, C20orf22
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 system By similarity
Active sitei333 – 3331Charge relay system By similarity
Active sitei372 – 3721Charge relay system By 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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7474Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei75 – 9521Helical; Reviewed predictionAdd
BLAST
Topological domaini96 – 398303Extracellular Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications

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.

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.

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

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. VSP_037372Add
BLAST
Alternative sequencei387 – 39812EFLGK…PEHQH → PQQGPGSSPDPSMWSELV in isoform 2. VSP_009097Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti359 – 3591V → I in BAF83504. 1 Publication
Sequence conflicti376 – 3761Y → C in BAC11357. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 107 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 (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

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