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MT001375

Record overview

MITO IDMT001375
Gene ID83451
SpeciesHomo sapiens (Human)
Gene Nameabhydrolase domain containing 11
Gene SymbolABHD11
SynonymsPP1226; WBSCR21;
Alternate namesalpha/beta hydrolase domain-containing protein 11; abhydrolase domain-containing protein 11; Williams Beuren syndrome chromosome region 21; williams-Beuren syndrome chromosomal region 21 protein;
Chromosome7
Map Location7q11.23
EC Number3.-.-.-
SummaryThis gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for ABHD11

Proteins

alpha/beta hydrolase domain-containing protein 11 isoform 1
Refseq ID:NP_683710
Protein GI:23200008
UniProt ID:Q8NFV4
mRNA ID:NM_148912
Length:315
RefSeq Status:
MRAGQQLASMLRWTRAWRLPREGLGPHGPSFARVPVAPSSSSGGRGGAEPRPLPLSYRLLDGEAALPAVVFLHGLFGSKTNFNSIAKILAQQTGRRVLTV
DARNHGDSPHSPDMSYEIMSQDLQDLLPQLGLVPCVVVGHSMGGKTAMLLALQRPELVERLIAVDISPVESTGVSHFATYVAAMRAINIADELPRSRARK
LADEQLSSVIQDMAVRQHLLTNLVEVDGRFVWRVNLDALTQHLDKILAFPQRQESYLGPTLFLLGGNSQFVHPSHHPEIMRLFPRAQMQTVPNAGHWIHA
DRPQDFIAAIRGFLV
 
alpha/beta hydrolase domain-containing protein 11 isoform 2
Refseq ID:NP_683711
Protein GI:23200012
UniProt ID:Q8NFV4
mRNA ID:NM_148913
Length:308
RefSeq Status:
MRAGQQLASMLRWTRAWRLPREGLGPHGPSFARVPVAPSSSSGGRGGAEPRLLDGEAALPAVVFLHGLFGSKTNFNSIAKILAQQTGRRVLTVDARNHGD
SPHSPDMSYEIMSQDLQDLLPQLGLVPCVVVGHSMGGKTAMLLALQRPELVERLIAVDISPVESTGVSHFATYVAAMRAINIADELPRSRARKLADEQLS
SVIQDMAVRQHLLTNLVEVDGRFVWRVNLDALTQHLDKILAFPQRQESYLGPTLFLLGGNSQFVHPSHHPEIMRLFPRAQMQTVPNAGHWIHADRPQDFI
AAIRGFLV
 
alpha/beta hydrolase domain-containing protein 11 isoform 8
Refseq ID:NP_001138836
Protein GI:223941839
UniProt ID:Q8NFV4
mRNA ID:NM_001145364
Length:258
RefSeq Status:
MRAGQQLASMLRWTRAWRLPREGLGPHGPSFARVPVAPSSSSGGRGGAEPRPLPLSYRLLDGEAALPAVVFLHGLFGSKTNFNSIAKILAQQTGRRVLTV
DARNHGDSPHSPDMSYEIMSQDLQDLLPQLGLVPCVVVGHSMGGKTAMLLALQRDMAVRQHLLTNLVEVDGRFVWRVNLDALTQHLDKILAFPQRQESYL
GPTLFLLGGNSQFVHPSHHPEIMRLFPRAQMQTVPNAGHWIHADRPQDFIAAIRGFLV
 
alpha/beta hydrolase domain-containing protein 11 isoform 9
Refseq ID:NP_001287987
Protein GI:666638006
UniProt ID:Q8NFV4
mRNA ID:NM_001301058
Length:159
RefSeq Status:
MRAGQQLASMLRWTRAWRLPREGLGPHGPSFARVPVAPSSSSGGRGGAEPRPLPLSYRLLDGEAALPAVVFLHGLFGSKTNFNSIAKILAQQTGRRVLTV
DARNHGDSPHSPDMSYEIMSQDLQDLLPQLGLVPCVVVGHSMGGKTAMLLALQRSQPPP