Gene_Locus Report

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Gene_locus Report for: human-ABHD16B

Homo sapiens (Human) ABHD16B hypothetical protein c20orf135 ct135

Comment
old CT135_HUMAN Shan et al. identified a nonsense mutation in the bovine Abhydrolase domain containing 16B gene ABHD16B (SNP rs468948776 AC_000170 g.54429815G>A) associated with male subfertility in Holstein cattle. The mutation causes a premature stop codon at amino acid position Glu 218, resulting in a truncation of 235 C-terminal amino acids. ABHD16B is involved in lipid biosynthesis in testis and is crucial for fertilization


Relationship
Family|ABHD16
Block| X
Position in NCBI Life Tree|Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E


Molecular evidence
Database
No mutation
No structure
No kinetic





No Substrate
No inhibitor
2 Genbank : AL118506, BC031949
1 UniProt : Q9H3Z7
1 UniProt : Q9H3Z7
1 Interpro : Q9H3Z7
1 Prodom : Q9H3Z7
1 Pfam : Q9H3Z7
1 PIRSF : Q9H3Z7
1 SUPERFAM : Q9H3Z7
1 EntrezGene : 140701
1 SNP : 140701
1 UniGene : 266774
1 HUGO HGNC : 16128
1 Ensembl : ENSG00000183260
Sequence
Graphical view for this peptide sequence: human-ABHD16B
Colored MSA for ABHD16 (raw)
MCVICFVKALVRVFKIYLTASYTYPFRGWPVAFRWDDVRAVGRSSSHRAL
TCAAAAAGVWLLRDETLGGDALGRPPRGARSQAQCLLQQLRELPGQLASY
ALAHSLGRWLVYPGSVSLMTRALLPLLQQGQERLVERYHGRRAKLVACDG
NEIDTMFMDRRQHPGSHVHGPRLVICCEGNAGFYEMGCLSAPLEAGYSVL
GWNHPGFGSSTGVPFPQHDANAMDVVVEYALHRLHFPPAHLVVYGWSVGG
FTATWATMTYPELGALVLDATFDDLVPLALKVMPHSWKGLVVRTVREHFN
LNVAEQLCCYPGPVLLLRRTQDDVVSTSGRLRPLSPGDVEGNRGNELLLR
LLEHRYPVVMAREGRAVVTRWLRAGSLAQEAAFYARYRVDEDWCLALLRS
YRARCEEELEGEEALGPHGPAFPWLVGQGLSSRRRRRLALFLARKHLKNV
EATHFSPLEPEEFQLPWRL
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MCVICFVKALVRVFKIYLTASYTYPFRGWPVAFRWDDVRAVGRSSSHRAL
TCAAAAAGVWLLRDETLGGDALGRPPRGARSQAQCLLQQLRELPGQLASY
ALAHSLGRWLVYPGSVSLMTRALLPLLQQGQERLVERYHGRRAKLVACDG
NEIDTMFMDRRQHPGSHVHGPRLVICCEGNAGFYEMGCLSAPLEAGYSVL
GWNHPGFGSSTGVPFPQHDANAMDVVVEYALHRLHFPPAHLVVYGWSVGG
FTATWATMTYPELGALVLDATFDDLVPLALKVMPHSWKGLVVRTVREHFN
LNVAEQLCCYPGPVLLLRRTQDDVVSTSGRLRPLSPGDVEGNRGNELLLR
LLEHRYPVVMAREGRAVVTRWLRAGSLAQEAAFYARYRVDEDWCLALLRS
YRARCEEELEGEEALGPHGPAFPWLVGQGLSSRRRRRLALFLARKHLKNV
EATHFSPLEPEEFQLPWRL


References
2 more
    Title: Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease
    Xu J, Gu W, Ji K, Xu Z, Zhu H, Zheng W
    Ref: Open Biol, 8:, 2018 : PubMed

            

    Title: Systemic steroid exposure is associated with differential methylation in chronic obstructive pulmonary disease
    Wan ES, Qiu W, Baccarelli A, Carey VJ, Bacherman H, Rennard SI, Agusti A, Anderson WH, Lomas DA, DeMeo DL
    Ref: American Journal of Respiratory & Critical Care Medicine, 186:1248, 2012 : PubMed

            

    Title: The DNA sequence and comparative analysis of human chromosome 20
    Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK and Rogers J <117 more author(s)>
    Ref: Nature, 414:865, 2001 : PubMed

            


Other Papers


Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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