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HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 [ Homo sapiens (human) ]

Gene ID: 9709, updated on 9-Dec-2018

Summary

Official Symbol
HERPUD1provided by HGNC
Official Full Name
homocysteine inducible ER protein with ubiquitin like domain 1provided by HGNC
Primary source
HGNC:HGNC:13744
See related
Ensembl:ENSG00000051108 MIM:608070
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
SUP; HERP; Mif1
Summary
The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]
Expression
Ubiquitous expression in thyroid (RPKM 145.7), prostate (RPKM 120.9) and 25 other tissues See more
Orthologs

Genomic context

See HERPUD1 in Genome Data Viewer
Location:
16q13
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (56932090..56943881)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56965974..56977793)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 3 Neighboring gene ribosomal protein S24 pseudogene 17 Neighboring gene microRNA 6863 Neighboring gene cholesteryl ester transfer protein Neighboring gene NLR family CARD domain containing 5 Neighboring gene cilia and flagella associated protein 69 pseudogene

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
A genome-wide association study of the metabolic syndrome in Indian Asian men.
NHGRI GWA Catalog
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
NHGRI GWA Catalog
Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Women's Genome Health Study.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0025

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Lewy body core IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with calcium channel complex IPI
Inferred from Physical Interaction
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 

General protein information

Preferred Names
homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein
Names
MMS-inducible
homocysteine-inducible endoplasmic reticulum stress-inducible ubiquitin-like domain member 1 protein
homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1
methyl methanesulfonate (MMF)-inducible fragment protein 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_001010989.2NP_001010989.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 2

    See identical proteins and their annotated locations for NP_001010989.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
    Source sequence(s)
    AC012181, AF055003, DA581153
    Consensus CDS
    CCDS45492.1
    UniProtKB/Swiss-Prot
    Q15011
    Related
    ENSP00000300302.5, ENST00000300302.9
    Conserved Domains (1) summary
    cd01790
    Location:986
    Herp_N; Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain protein
  2. NM_001272103.1NP_001259032.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 4

    See identical proteins and their annotated locations for NP_001259032.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC012181, AF055001, DA581153, DQ837586
    UniProtKB/Swiss-Prot
    Q15011
    UniProtKB/TrEMBL
    A4UAE9
    Conserved Domains (1) summary
    cd01790
    Location:987
    Herp_N; Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain protein
  3. NM_014685.4NP_055500.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 1

    See identical proteins and their annotated locations for NP_055500.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB034989, AC012181, AK223233, DA581153
    Consensus CDS
    CCDS10771.1
    UniProtKB/Swiss-Prot
    Q15011
    UniProtKB/TrEMBL
    Q53FP9
    Related
    ENSP00000409555.2, ENST00000439977.6
    Conserved Domains (1) summary
    cd01790
    Location:987
    Herp_N; Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain protein

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_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    56932090..56943881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001010990.1: Suppressed sequence

    Description
    NM_001010990.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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