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

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: AIFID; 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, Apr 2022]
Expression: Broad expression in testis (RPKM 39.8), fat (RPKM 13.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (144098637..144103773, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (145259427..145264567, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (145153540..145158676, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Title: Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN.
Title: Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN.
SHARPIN promotes cell proliferation of cholangiocarcinoma and inhibits ferroptosis via p53/SLC7A11/GPX4 signaling.
Title: SHARPIN promotes cell proliferation of cholangiocarcinoma and inhibits ferroptosis via p53/SLC7A11/GPX4 signaling.
A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease.
Title: A functional variant of SHARPIN confers increased risk of late-onset Alzheimer's disease.
Biochemical and functional characterization of the N-terminal ubiquitin-like domain of human SHARPIN.
Title: Biochemical and functional characterization of the N-terminal ubiquitin-like domain of human SHARPIN.
A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages.
Title: A missense variant in SHARPIN mediates Alzheimer's disease-specific brain damages.
Downregulation of SHANK-associated RH domain-interacting protein elevates interleukin-33 expression by stimulating the Janus kinase 2/signal transducer and activator of transcription signalling pathway in HaCaT cells.
Title: Downregulation of SHANK-associated RH domain-interacting protein elevates interleukin-33 expression by stimulating the Janus kinase 2/signal transducer and activator of transcription signalling pathway in HaCaT cells.
Imaging genomics discovery of a new risk variant for Alzheimer's disease in the postsynaptic SHARPIN gene.
Title: Imaging genomics discovery of a new risk variant for Alzheimer's disease in the postsynaptic SHARPIN gene.
SHARPIN regulates the development of clear cell renal cell carcinoma by promoting von Hippel-Lindau protein ubiquitination and degradation.
Title: SHARPIN regulates the development of clear cell renal cell carcinoma by promoting von Hippel-Lindau protein ubiquitination and degradation.
SHARPIN Inhibits Esophageal Squamous Cell Carcinoma Progression by Modulating Hippo Signaling.
Title: SHARPIN Inhibits Esophageal Squamous Cell Carcinoma Progression by Modulating Hippo Signaling.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 protein-macromolecule adaptor activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in apoptotic nuclear changes	IEA Inferred from Electronic Annotation more info
involved_in defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in keratinization	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein linear polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein linear polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of CD40 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of LUBAC complex	IBA Inferred from Biological aspect of Ancestor more info
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 synapse	IEA Inferred from Electronic Annotation more info

General protein information

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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)

NM_030974.4 → NP_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

A6NEG3, C0L3L2, D3DWL3, Q8IXF5, Q8IXF6, Q8N2E7, Q8TB25, Q9BUE4, Q9H0F6

Related

ENSP00000381698.2, ENST00000398712.7

Conserved Domains (4) summary

smart00547
Location:351 → 373

ZnF_RBZ; Zinc finger domain

sd00029
Location:352 → 371

zf-RanBP2; RanBP2-type Zn finger [structural motif]

pfam16764
Location:29 → 126

Sharpin_PH; Sharpin PH domain

cl00155
Location:240 → 300

UBQ; Ubiquitin-like proteins

RNA

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

144098637..144103773 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017013888.3 → XP_016869377.1 sharpin isoform X3

UniProtKB/Swiss-Prot

Q9H0F6

Related

ENSP00000352551.6, ENST00000359551.6

Conserved Domains (2) summary

cd13305
Location:29 → 127

PH_SHARPIN; SHANK-associated RH domain interacting protein Pleckstrin homology (PH) domain

cl00155
Location:240 → 300

UBQ; Ubiquitin-like proteins
XM_047422289.1 → XP_047278245.1 sharpin isoform X1

UniProtKB/Swiss-Prot

A6NEG3, C0L3L2, D3DWL3, Q8IXF5, Q8IXF6, Q8N2E7, Q8TB25, Q9BUE4, Q9H0F6
XM_047422290.1 → XP_047278246.1 sharpin isoform X2