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ABHD11 abhydrolase domain containing 11 [ Homo sapiens (human) ]

Gene ID: 83451, updated on 10-Dec-2019

Summary

Official Symbol
ABHD11provided by HGNC
Official Full Name
abhydrolase domain containing 11provided by HGNC
Primary source
HGNC:HGNC:16407
See related
Ensembl:ENSG00000106077
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PP1226; WBSCR21
Summary
This 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. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in colon (RPKM 10.9), thyroid (RPKM 9.6) and 25 other tissues See more
Orthologs

Genomic context

See ABHD11 in Genome Data Viewer
Location:
7q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (73736094..73738867, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73150424..73153190, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8580 Neighboring gene ABHD11 antisense RNA 1 (tail to tail) Neighboring gene claudin 3 Neighboring gene Sharpr-MPRA regulatory region 14121

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein ABHD11
Names
Williams Beuren syndrome chromosome region 21
abhydrolase domain-containing protein 11
alpha/beta hydrolase domain-containing protein 11

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001145364.2NP_001138836.1  protein ABHD11 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks a coding exon, compared to variant 1, resulting in a shorter protein (isoform 8).
    Source sequence(s)
    AY053499, BC008251, BM557977, CB998040
    Consensus CDS
    CCDS47607.1
    UniProtKB/Swiss-Prot
    Q8NFV4
    Related
    ENSP00000378579.4, ENST00000395147.8
    Conserved Domains (1) summary
    cl26326
    Location:53257
    PRK10673; acyl-CoA esterase; Provisional
  2. NM_001301058.1NP_001287987.1  protein ABHD11 isoform 9

    See identical proteins and their annotated locations for NP_001287987.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks two exons in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (9) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF412030, AI401767, BM557977, BU189995
    Consensus CDS
    CCDS75615.1
    UniProtKB/Swiss-Prot
    Q8NFV4
    UniProtKB/TrEMBL
    C9J7Q4
    Related
    ENSP00000397666.1, ENST00000458339.5
    Conserved Domains (1) summary
    cl26326
    Location:53150
    PRK10673; acyl-CoA esterase; Provisional
  3. NM_001321382.1NP_001308311.1  protein ABHD11 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as B) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (4) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AF412031, BC008251, BM557977
    UniProtKB/Swiss-Prot
    Q8NFV4
    UniProtKB/TrEMBL
    D3DXF2
    Conserved Domains (1) summary
    cl26326
    Location:1201
    PRK10673; acyl-CoA esterase; Provisional
  4. NM_001321383.1NP_001308312.1  protein ABHD11 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC073846
    Conserved Domains (1) summary
    pfam12695
    Location:68154
    Abhydrolase_5; Alpha/beta hydrolase family
  5. NM_148912.3NP_683710.1  protein ABHD11 isoform 1

    See identical proteins and their annotated locations for NP_683710.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as A) encodes the longest isoform (1).
    Source sequence(s)
    AF412030, BC008251, BM557977
    Consensus CDS
    CCDS5558.1
    UniProtKB/Swiss-Prot
    Q8NFV4
    Related
    ENSP00000222800.3, ENST00000222800.7
    Conserved Domains (1) summary
    cl26326
    Location:53314
    PRK10673; acyl-CoA esterase; Provisional
  6. NM_148913.3NP_683711.1  protein ABHD11 isoform 2

    See identical proteins and their annotated locations for NP_683711.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as D) lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter isoform (2) than isoform 1.
    Source sequence(s)
    AY053499, BC008251, BM557977
    Consensus CDS
    CCDS47608.1
    UniProtKB/Swiss-Prot
    Q8NFV4
    Related
    ENSP00000416970.2, ENST00000437775.6
    Conserved Domains (1) summary
    cl26326
    Location:62307
    PRK10673; acyl-CoA esterase; Provisional

RNA

  1. NR_026912.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF217971, BC008251, BM557977, DB460434
    Related
    ENST00000497897.5
  2. NR_135627.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF412031, BC008251, BM557977, BU175566

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    73736094..73738867 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446950.1XP_024302718.1  protein ABHD11 isoform X4

    Conserved Domains (1) summary
    cl26326
    Location:216269
    PRK10673; acyl-CoA esterase; Provisional
  2. XM_024446949.1XP_024302717.1  protein ABHD11 isoform X3

    Conserved Domains (2) summary
    cl26326
    Location:216433
    PRK10673; acyl-CoA esterase; Provisional
    cl26464
    Location:15159
    Atrophin-1; Atrophin-1 family
  3. XM_024446947.1XP_024302715.1  protein ABHD11 isoform X1

    Conserved Domains (2) summary
    cl26326
    Location:216376
    PRK10673; acyl-CoA esterase; Provisional
    cl26464
    Location:15159
    Atrophin-1; Atrophin-1 family
  4. XM_024446948.1XP_024302716.1  protein ABHD11 isoform X2

    Conserved Domains (1) summary
    cl26326
    Location:130347
    PRK10673; acyl-CoA esterase; Provisional
  5. XM_011516591.1XP_011514893.1  protein ABHD11 isoform X5

    See identical proteins and their annotated locations for XP_011514893.1

    UniProtKB/TrEMBL
    D3DXF2
    Conserved Domains (1) summary
    cl26326
    Location:1201
    PRK10673; acyl-CoA esterase; Provisional
  6. XM_006716144.2XP_006716207.1  protein ABHD11 isoform X5

    See identical proteins and their annotated locations for XP_006716207.1

    UniProtKB/TrEMBL
    D3DXF2
    Conserved Domains (1) summary
    cl26326
    Location:1201
    PRK10673; acyl-CoA esterase; Provisional

RNA

  1. XR_002956491.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001145363.1: Suppressed sequence

    Description
    NM_001145363.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_148914.2: Suppressed sequence

    Description
    NM_148914.2: This RefSeq was permanently suppressed because the transcript represents use of non-consensus splice sites and there is insufficient supporting data.
  3. NM_148916.3: Suppressed sequence

    Description
    NM_148916.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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