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SHARPIN SHANK associated RH domain interactor [ Homo sapiens (human) ]

Gene ID: 81858, updated on 25-Jan-2022

Summary

Official Symbol
SHARPINprovided by HGNC
Official Full Name
SHANK associated RH domain interactorprovided by HGNC
Primary source
HGNC:HGNC:25321
See related
Ensembl:ENSG00000179526 MIM:611885; AllianceGenome:HGNC:25321
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
SIPL1
Summary
Enables polyubiquitin modification-dependent protein binding activity. Involved in protein linear polyubiquitination and regulation of signal transduction. Located in cytosol. Part of LUBAC complex. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Broad expression in testis (RPKM 39.8), fat (RPKM 13.6) and 25 other tissues See more
Orthologs
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Genomic context

See SHARPIN in Genome Data Viewer
Location:
8q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144098637..144104248, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145153540..145158676, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12380 Neighboring gene cytochrome c1 Neighboring gene Sharpr-MPRA regulatory region 2030 Neighboring gene MAF1 homolog, negative regulator of RNA polymerase III Neighboring gene WD repeat domain 97

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434N1923

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of LUBAC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of LUBAC complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of LUBAC complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
part_of ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
sharpin
Names
hSIPL1
shank-associated RH domain-interacting protein
shank-interacting protein-like 1

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_030974.4NP_112236.3  sharpin

    See identical proteins and their annotated locations for NP_112236.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) includes all coding exons, is not a candidate for nonsense-mediated decay, and encodes the protein product.
    Source sequence(s)
    AL136816, BE877614
    Consensus CDS
    CCDS43777.1
    UniProtKB/Swiss-Prot
    Q9H0F6
    UniProtKB/TrEMBL
    Q6PJD5
    Related
    ENSP00000381698.2, ENST00000398712.7
    Conserved Domains (4) summary
    smart00547
    Location:351373
    ZnF_RBZ; Zinc finger domain
    sd00029
    Location:352371
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    pfam16764
    Location:29126
    Sharpin_PH; Sharpin PH domain
    cl00155
    Location:240300
    UBQ; Ubiquitin-like proteins

RNA

  1. NR_038270.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. This variant is represented as non-coding because the transcript is predicted to be a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB052764, BE877614, CN260986

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_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    144098637..144104248 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013888.2XP_016869377.1  sharpin isoform X2

    UniProtKB/Swiss-Prot
    Q9H0F6
    Related
    ENSP00000352551.6, ENST00000359551.6
    Conserved Domains (2) summary
    cd13305
    Location:29127
    PH_SHARPIN; SHANK-associated RH domain interacting protein Pleckstrin homology (PH) domain
    cl00155
    Location:240300
    UBQ; Ubiquitin-like proteins
  2. XM_017013887.2XP_016869376.1  sharpin isoform X1

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