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SBNO1 strawberry notch homolog 1 [ Homo sapiens (human) ]

Gene ID: 55206, updated on 12-Aug-2018

Summary

Official Symbol
SBNO1provided by HGNC
Official Full Name
strawberry notch homolog 1provided by HGNC
Primary source
HGNC:HGNC:22973
See related
Ensembl:ENSG00000139697 MIM:614274; Vega:OTTHUMG00000183988
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Sno; MOP3
Expression
Broad expression in testis (RPKM 27.6), thyroid (RPKM 6.9) and 23 other tissues See more
Orthologs

Genomic context

See SBNO1 in Genome Data Viewer
Location:
12q24.31
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (123289109..123365209, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123773656..123849756, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene cyclin dependent kinase 2 associated protein 1 Neighboring gene RNA, 5S ribosomal pseudogene 375 Neighboring gene uncharacterized LOC112268105 Neighboring gene microRNA 8072 Neighboring gene lysine methyltransferase 5A Neighboring gene Rab interacting lysosomal protein like 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Common variants at 12q15 and 12q24 are associated with infant head circumference.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10701, FLJ10833, FLJ14066, FLJ16176, FLJ35199

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein strawberry notch homolog 1
Names
monocyte protein 3

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.

Genomic

  1. NG_052874.1 RefSeqGene

    Range
    5001..81101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167856.2NP_001161328.1  protein strawberry notch homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_001161328.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC068768, AC137767
    Consensus CDS
    CCDS53844.1
    UniProtKB/Swiss-Prot
    A3KN83
    Related
    ENSP00000473665.1, ENST00000602398.2
    Conserved Domains (3) summary
    pfam09595
    Location:26151
    Metaviral_G; Metaviral_G glycoprotein
    pfam13871
    Location:8721148
    Helicase_C_4; C-terminal domain on Strawberry notch homologue
    pfam13872
    Location:258560
    AAA_34; P-loop containing NTP hydrolase pore-1
  2. NM_018183.4NP_060653.3  protein strawberry notch homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_060653.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC068768, AC137767
    Consensus CDS
    CCDS9246.1
    UniProtKB/Swiss-Prot
    A3KN83
    Related
    ENSP00000267176.4, ENST00000267176.8
    Conserved Domains (3) summary
    pfam09595
    Location:26150
    Metaviral_G; Metaviral_G glycoprotein
    pfam13871
    Location:8711147
    Helicase_C_4; C-terminal domain on Strawberry notch homologue
    pfam13872
    Location:257559
    AAA_34; P-loop containing NTP hydrolase pore-1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    123289109..123365209 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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