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SMCR8 Smith-Magenis syndrome chromosome region, candidate 8 [ Homo sapiens (human) ]

Gene ID: 140775, updated on 2-Oct-2018

Summary

Official Symbol
SMCR8provided by HGNC
Official Full Name
Smith-Magenis syndrome chromosome region, candidate 8provided by HGNC
Primary source
HGNC:HGNC:17921
See related
Ensembl:ENSG00000176994 MIM:617074; Vega:OTTHUMG00000059394
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
Expression
Ubiquitous expression in bone marrow (RPKM 10.7), spleen (RPKM 8.2) and 25 other tissues See more
Orthologs

Genomic context

See SMCR8 in Genome Data Viewer
Location:
17p11.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (18315280..18328056)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18218594..18231370)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DNA topoisomerase III alpha Neighboring gene ribosomal protein L21 pseudogene 121 Neighboring gene ribosomal protein L7a pseudogene 65 Neighboring gene serine hydroxymethyltransferase 1 Neighboring gene microRNA 6778 Neighboring gene envoplakin like

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34716, FLJ60657

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to Rab guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
negative regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Atg1/ULK1 kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with Atg1/ULK1 kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
guanyl-nucleotide exchange factor complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
guanine nucleotide exchange protein SMCR8
Names
smith-Magenis syndrome chromosomal region candidate gene 8 protein

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_144775.2NP_658988.2  guanine nucleotide exchange protein SMCR8

    See identical proteins and their annotated locations for NP_658988.2

    Status: VALIDATED

    Source sequence(s)
    AC127537, AF467440, BC101116, BP280386, CK724925
    Consensus CDS
    CCDS11195.2
    UniProtKB/Swiss-Prot
    Q8TEV9
    Related
    ENSP00000385025.3, OTTHUMP00000065699, ENST00000406438.4, OTTHUMT00000132065

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_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    18315280..18328056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_017363819.1 Reference GRCh38.p12 PATCHES

    Range
    75654..88430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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