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SMCR8 SMCR8-C9orf72 complex subunit [ Homo sapiens (human) ]

Gene ID: 140775, updated on 25-Jan-2022

Summary

Official Symbol
SMCR8provided by HGNC
Official Full Name
SMCR8-C9orf72 complex subunitprovided by HGNC
Primary source
HGNC:HGNC:17921
See related
Ensembl:ENSG00000176994 MIM:617074; AllianceGenome:HGNC:17921
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
DENND8A
Summary
Enables protein kinase binding activity and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of macromolecule metabolic process; regulation of TOR signaling; and regulation of macroautophagy. Located in chromatin; cytoplasm; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. Colocalizes with Atg1/ULK1 kinase complex. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Ubiquitous expression in bone marrow (RPKM 10.7), spleen (RPKM 8.2) and 25 other tissues See more
Orthologs
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Genomic context

See SMCR8 in Genome Data Viewer
Location:
17p11.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (18315293..18328056)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18218607..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 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

Clone Names

  • FLJ34716, FLJ60657

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of Atg1/ULK1 kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
part_of guanyl-nucleotide exchange factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of guanyl-nucleotide exchange factor complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of guanyl-nucleotide exchange factor complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in postsynapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in presynapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_144775.3NP_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, ENST00000406438.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    18315293..18328056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_017363819.1 Reference GRCh38.p13 PATCHES

    Range
    75667..88430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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