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WBSCR27 Williams Beuren syndrome chromosome region 27 [ Homo sapiens (human) ]

Gene ID: 155368, updated on 26-May-2016
Official Symbol
WBSCR27provided by HGNC
Official Full Name
Williams Beuren syndrome chromosome region 27provided by HGNC
Primary source
HGNC:HGNC:19068
See related
Ensembl:ENSG00000165171 HPRD:15661; MIM:612546; Vega:OTTHUMG00000130033
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
Summary
This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]
Orthologs
Location:
7q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (73834590..73842525, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73248920..73256855, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene claudin 3 Neighboring gene claudin 4 Neighboring gene Williams-Beuren syndrome chromosome region 28 Neighboring gene elastin

Products Interactant Other Gene Complex Source Pubs Description

Homology

Clone Names

  • MGC40131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
S-adenosylmethionine-dependent methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
methylation IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
Williams-Beuren syndrome chromosomal region 27 protein

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.

Genomic

  1. NG_023289.1 RefSeqGene

    Range
    5001..12936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152559.2NP_689772.2  Williams-Beuren syndrome chromosomal region 27 protein

    See identical proteins and their annotated locations for NP_689772.2

    Status: REVIEWED

    Source sequence(s)
    BC030295
    Consensus CDS
    CCDS5561.1
    UniProtKB/Swiss-Prot
    Q8N6F8
    Related
    ENSP00000297873, OTTHUMP00000160508, ENST00000297873, OTTHUMT00000252312
    Conserved Domains (2) summary
    cd02440
    Location:71166
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    cl17173
    Location:23108
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    73834590..73842525 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515839.1XP_011514141.1  

    See identical proteins and their annotated locations for XP_011514141.1

    UniProtKB/Swiss-Prot
    Q8N6F8
    Conserved Domains (2) summary
    cd02440
    Location:71166
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    cl17173
    Location:23108
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    73394299..73402246 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)