ABHD16A

Protein identityUniProt · HPA

UniProt accession

O95870

Gene

ABHD16A

Ensembl

ENSG00000204427

Chromosome

6

Canonical length

558 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted membrane proteins

OverviewNCBI Gene

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

Canonical amino-acid sequenceUniProt

558 residues, UniProt reviewed canonical sequence.

>O95870|ABHD16A
     1  MAKLLSCVLG PRLYKIYRER DSERAPASVP ETPTAVTAPH SSSWDTYYQP RALEKHADSI
    61  LALASVFWSI SYYSSPFAFF YLYRKGYLSL SKVVPFSHYA GTLLLLLAGV ACLRGIGRWT
   121  NPQYRQFITI LEATHRNQSS ENKRQLANYN FDFRSWPVDF HWEEPSSRKE SRGGPSRRGV
   181  ALLRPEPLHR GTADTLLNRV KKLPCQITSY LVAHTLGRRM LYPGSVYLLQ KALMPVLLQG
   241  QARLVEECNG RRAKLLACDG NEIDTMFVDR RGTAEPQGQK LVICCEGNAG FYEVGCVSTP
   301  LEAGYSVLGW NHPGFAGSTG VPFPQNEANA MDVVVQFAIH RLGFQPQDII IYAWSIGGFT
   361  ATWAAMSYPD VSAMILDASF DDLVPLALKV MPDSWRGLVT RTVRQHLNLN NAEQLCRYQG
   421  PVLLIRRTKD EIITTTVPED IMSNRGNDLL LKLLQHRYPR VMAEEGLRVV RQWLEASSQL
   481  EEASIYSRWE VEEDWCLSVL RSYQAEHGPD FPWSVGEDMS ADGRRQLALF LARKHLHNFE
   541  ATHCTPLPAQ NFQMPWHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABHD16A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Unknown

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

45 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABHD16A.

Disease | AllUniProt

Conditions ABHD16A is implicated in, by any mechanism.

• Spastic paraplegia 86, autosomal recessive (SPG86) MIM:619735

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 117 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spastic paraplegia 86, autosomal recessive
• Complex hereditary spastic paraplegia
• Autosomal recessive complex spastic paraplegia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.38

gnomAD pLI

0.47

gnomAD missense Z

2.48

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• monoacylglycerol catabolic process
• phosphatidylserine catabolic process
• prostaglandin catabolic process

Molecular functions

• monoacylglycerol lipase activity
• phospholipase activity

Cellular components

• membrane

Protein domainsUniProt · Pfam · InterPro

• Alpha/beta hydrolase fold-1
• Alpha/Beta hydrolase fold
• alpha/beta hydrolase fold
• Phosphatidylserine Lipase ABHD16, N-terminal domain
• Phosphatidylserine Lipase ABHD16 N-terminal domain

KeywordsUniProt

• Hereditary spastic paraplegia
• Hydrolase
• Lipid metabolism
• Membrane
• Neurodegeneration
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of ABHD16A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RETREG3
• RNF5
• TMEM147