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SENP8 SUMO peptidase family member, NEDD8 specific [ Homo sapiens (human) ]

Gene ID: 123228, updated on 7-Dec-2018

Summary

Official Symbol
SENP8provided by HGNC
Official Full Name
SUMO peptidase family member, NEDD8 specificprovided by HGNC
Primary source
HGNC:HGNC:22992
See related
Ensembl:ENSG00000166192 MIM:608659
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
DEN1; NEDP1; PRSC2
Summary
This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Expression
Broad expression in testis (RPKM 2.2), thyroid (RPKM 1.6) and 23 other tissues See more
Orthologs

Genomic context

See SENP8 in Genome Data Viewer
Location:
15q23
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (72114258..72143688)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72406599..72433311)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene myosin IXA Neighboring gene eukaryotic translation initiation factor 5A2 pseudogene 1 Neighboring gene RNA, U2 small nuclear 65, pseudogene Neighboring gene ribosomal protein L21 pseudogene 115 Neighboring gene uncharacterized LOC107984715 Neighboring gene GRAM domain containing 2A Neighboring gene pyruvate kinase M1/2

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog

Pathways from BioSystems

  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • UCH proteinases, organism-specific biosystem (from REACTOME)
    UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NEDD8-specific protease activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein deubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
sentrin-specific protease 8
Names
NEDD8 specific-protease cysteine 2
NEDD8-specific protease 1
SUMO sentrin specific protease family member 8
SUMO/sentrin peptidase family member, NEDD8 specific
SUMO/sentrin specific peptidase family member 8
deneddylase 1
protease, cysteine 2
NP_001159812.1
NP_001165580.1
NP_001165581.1
NP_001165582.1
NP_660205.3
XP_005254214.1
XP_011519517.1
XP_011519519.1

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_001166340.1NP_001159812.1  sentrin-specific protease 8

    See identical proteins and their annotated locations for NP_001159812.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variants 2, 3, 4, and 5 encode the same protein.
    Source sequence(s)
    AC020779, AK097557
    Consensus CDS
    CCDS10240.1
    UniProtKB/Swiss-Prot
    Q96LD8
    Related
    ENSP00000446057.2, ENST00000542035.2
    Conserved Domains (1) summary
    cl23802
    Location:26174
    Peptidase_C48; Ulp1 protease family, C-terminal catalytic domain
  2. NM_001172109.1NP_001165580.1  sentrin-specific protease 8

    See identical proteins and their annotated locations for NP_001165580.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4 and 5 encode the same protein. An in-frame AUG is located 44 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
    Source sequence(s)
    AC020779, AY008293, DB048641
    Consensus CDS
    CCDS10240.1
    UniProtKB/Swiss-Prot
    Q96LD8
    Conserved Domains (1) summary
    cl23802
    Location:26174
    Peptidase_C48; Ulp1 protease family, C-terminal catalytic domain
  3. NM_001172110.1NP_001165581.1  sentrin-specific protease 8

    See identical proteins and their annotated locations for NP_001165581.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4 and 5 encode the same protein. An in-frame AUG is located 44 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
    Source sequence(s)
    AC020779, AY008293, BP370384
    Consensus CDS
    CCDS10240.1
    UniProtKB/Swiss-Prot
    Q96LD8
    Conserved Domains (1) summary
    cl23802
    Location:26174
    Peptidase_C48; Ulp1 protease family, C-terminal catalytic domain
  4. NM_001172111.1NP_001165582.1  sentrin-specific protease 8

    See identical proteins and their annotated locations for NP_001165582.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4 and 5 encode the same protein. An in-frame AUG is located 44 codons upstream of the annotated translation start site but is not being annotated as a start site since it is not conserved and is in a weak Kozak sequence context.
    Source sequence(s)
    AC020779, AY008293, CN367895, DB033241
    Consensus CDS
    CCDS10240.1
    UniProtKB/Swiss-Prot
    Q96LD8
    Conserved Domains (1) summary
    cl23802
    Location:26174
    Peptidase_C48; Ulp1 protease family, C-terminal catalytic domain
  5. NM_145204.4NP_660205.3  sentrin-specific protease 8

    See identical proteins and their annotated locations for NP_660205.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4 and 5 encode the same protein.
    Source sequence(s)
    AC020779, AK292298, AY008293
    Consensus CDS
    CCDS10240.1
    UniProtKB/Swiss-Prot
    Q96LD8
    UniProtKB/TrEMBL
    A8K8D3
    Related
    ENSP00000340505.4, ENST00000340912.5
    Conserved Domains (1) summary
    cl23802
    Location:26174
    Peptidase_C48; Ulp1 protease family, C-terminal catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    72114258..72143688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521215.2XP_011519517.1  sentrin-specific protease 8 isoform X1

    See identical proteins and their annotated locations for XP_011519517.1

    Conserved Domains (1) summary
    cl23802
    Location:70218
    Peptidase_C48; Ulp1 protease family, C-terminal catalytic domain
  2. XM_005254157.3XP_005254214.1  sentrin-specific protease 8 isoform X2

    See identical proteins and their annotated locations for XP_005254214.1

    UniProtKB/Swiss-Prot
    Q96LD8
    Conserved Domains (1) summary
    cl23802
    Location:26174
    Peptidase_C48; Ulp1 protease family, C-terminal catalytic domain
  3. XM_011521217.2XP_011519519.1  sentrin-specific protease 8 isoform X2

    See identical proteins and their annotated locations for XP_011519519.1

    UniProtKB/Swiss-Prot
    Q96LD8
    Conserved Domains (1) summary
    cl23802
    Location:26174
    Peptidase_C48; Ulp1 protease family, C-terminal catalytic domain
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