This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. A... See more...

Aliases for EIPR1 Gene

Aliases for EIPR1 Gene

  • EARP Complex And GARP Complex Interacting Protein 1 2 3 5
  • Tumor-Suppressing Subchromosomal Transferable Fragment Candidate Gene 1 Protein 3 4
  • Endosome-Associated Recycling Protein-Interacting Protein 3 4
  • Golgi-Associated Retrograde Protein-Interacting Protein 3 4
  • Tumor Suppressing Subtransferable Candidate 1 2 3
  • EARP And GARP Complex-Interacting Protein 1 3 4
  • Tumor-Suppressing STF CDNA 1 Protein 3 4
  • EIPR-1 2 3
  • TSSC1 3 4
  • Tumor-Suppressing Subtransferable Fragment Candidate Gene 1 3
  • EARP-Interacting Protein 3
  • Protein TSSC1 3
  • EIPR1 5

External Ids for EIPR1 Gene

Previous HGNC Symbols for EIPR1 Gene

  • TSSC1

Summaries for EIPR1 Gene

Entrez Gene Summary for EIPR1 Gene

  • This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]

GeneCards Summary for EIPR1 Gene

EIPR1 (EARP Complex And GARP Complex Interacting Protein 1) is a Protein Coding gene. Diseases associated with EIPR1 include Beckwith-Wiedemann Syndrome.

UniProtKB/Swiss-Prot Summary for EIPR1 Gene

  • Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network. Mediates the recruitment of Golgi-associated retrograde protein (GARP) complex to the trans-Golgi network and controls early endosome-to-Golgi transport of internalized protein. Promotes the recycling of internalized transferrin receptor (TFRC) to the plasma membrane through interaction with endosome-associated recycling protein (EARP) complex.

Gene Wiki entry for EIPR1 Gene

Additional gene information for EIPR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EIPR1 Gene

Genomics for EIPR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EIPR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J003376 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -1.1 -1066 4.7 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 REST ZNF629 TFE3 ZNF512 TRAPPC12 EIPR1 lnc-ADI1-4 RPS7 ENSG00000242282 TRAPPC12-AS1
GH02J003221 Enhancer 1.3 FANTOM5 Ensembl ENCODE 6.1 +154.5 154469 3.2 SP1 CREB1 BACH1 STAT3 ZNF143 RFX1 RELA TCF12 IKZF2 TRIM22 EIPR1 ENSG00000235078 piR-39858-332 piR-49895 lnc-ADI1-4 MYT1L
GH02J003264 Enhancer 1 VISTA Ensembl ENCODE 7.2 +112.9 112882 6 EZH2 ZNF157 YY1 NR2F2 SPI1 SIN3A MAX EIPR1 RF00994-465 piR-49895 lnc-ADI1-4 MYT1L
GH02J003253 Enhancer 0.9 Ensembl ENCODE 7.2 +122.9 122896 2.4 SP1 ATF7 BACH1 RELA TCF12 IKZF2 TRIM22 EED CEBPB ARID3A piR-49895 EIPR1 RF00994-465 lnc-ADI1-4 MYT1L
GH02J003239 Enhancer 0.8 Ensembl ENCODE 6.7 +136.0 135982 5.8 IKZF2 RUNX3 FOXA2 USF2 CTCF FOXA1 POLR2A ATF2 RAD21 BHLHE40 EIPR1 piR-49895 piR-39858-332 lnc-ADI1-4 MYT1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EIPR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EIPR1

Genomic Locations for EIPR1 Gene

Genomic Locations for EIPR1 Gene
chr2:3,188,925-3,377,882
(GRCh38/hg38)
Size:
188,958 bases
Orientation:
Minus strand
chr2:3,192,696-3,381,653
(GRCh37/hg19)
Size:
188,958 bases
Orientation:
Minus strand

Genomic View for EIPR1 Gene

Genes around EIPR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EIPR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EIPR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EIPR1 Gene

Proteins for EIPR1 Gene

  • Protein details for EIPR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53HC9-EIPR1_HUMAN
    Recommended name:
    EARP and GARP complex-interacting protein 1
    Protein Accession:
    Q53HC9
    Secondary Accessions:
    • D6W4Y1
    • O43179
    • Q53S19
    • Q53SG2

    Protein attributes for EIPR1 Gene

    Size:
    387 amino acids
    Molecular mass:
    43603 Da
    Quaternary structure:
    • Interacts with two multisubunit tethering complexes: EARP composed of VPS50, VPS51, VPS52 and VPS53 subunits and GARP complex composed of VPS51, VPS52, VPS53 and VPS54 subunits. Interacts with SNAP29.

neXtProt entry for EIPR1 Gene

Post-translational modifications for EIPR1 Gene

  • Ubiquitination at Lys91, Lys240, and Lys382
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EIPR1 Gene

Domains & Families for EIPR1 Gene

Gene Families for EIPR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EIPR1 Gene

Suggested Antigen Peptide Sequences for EIPR1 Gene

GenScript: Design optimal peptide antigens:
  • Tumor-suppressing subchromosomal transferable fragment candidate gene 1 protein (TSSC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q53HC9

UniProtKB/Swiss-Prot:

EIPR1_HUMAN :
  • Belongs to the WD repeat EIPR1 family.
Family:
  • Belongs to the WD repeat EIPR1 family.
genes like me logo Genes that share domains with EIPR1: view

Function for EIPR1 Gene

Molecular function for EIPR1 Gene

UniProtKB/Swiss-Prot Function:
Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network. Mediates the recruitment of Golgi-associated retrograde protein (GARP) complex to the trans-Golgi network and controls early endosome-to-Golgi transport of internalized protein. Promotes the recycling of internalized transferrin receptor (TFRC) to the plasma membrane through interaction with endosome-associated recycling protein (EARP) complex.

Phenotypes From GWAS Catalog for EIPR1 Gene

Gene Ontology (GO) - Molecular Function for EIPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with EIPR1: view
genes like me logo Genes that share phenotypes with EIPR1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIPR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EIPR1 Gene

Localization for EIPR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EIPR1 Gene

Golgi apparatus, trans-Golgi network.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EIPR1 gene
Compartment Confidence
golgi apparatus 5
cytoskeleton 3
nucleus 3
cytosol 3
plasma membrane 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EIPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000938 colocalizes_with GARP complex IDA 27440922
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 27440922
GO:1990745 colocalizes_with EARP complex IDA 27440922
genes like me logo Genes that share ontologies with EIPR1: view

Pathways & Interactions for EIPR1 Gene

PathCards logo

SuperPathways for EIPR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EIPR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IBA 21873635
GO:0032456 endocytic recycling ISS --
GO:0050796 regulation of insulin secretion ISS --
GO:1905281 positive regulation of retrograde transport, endosome to Golgi IDA 27440922
GO:2001137 positive regulation of endocytic recycling IDA 27440922
genes like me logo Genes that share ontologies with EIPR1: view

No data available for Pathways by source and SIGNOR curated interactions for EIPR1 Gene

Drugs & Compounds for EIPR1 Gene

No Compound Related Data Available

Transcripts for EIPR1 Gene

mRNA/cDNA for EIPR1 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EIPR1

Alternative Splicing Database (ASD) splice patterns (SP) for EIPR1 Gene

No ASD Table

Relevant External Links for EIPR1 Gene

GeneLoc Exon Structure for
EIPR1

Expression for EIPR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EIPR1

Evidence on tissue expression from TISSUES for EIPR1 Gene

  • Nervous system(4.9)
  • Intestine(4.3)
  • Skin(2.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EIPR1 Gene

Orthologs for EIPR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EIPR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TSSC1 30 31
  • 96.04 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TSSC1 31
  • 93 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TSSC1 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TSSC1 30 31
  • 88.89 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tssc1 30 31
  • 87.05 (n)
OneToOne
Eipr1 17
Rat
(Rattus norvegicus)
Mammalia Tssc1 30
  • 86.27 (n)
Cow
(Bos Taurus)
Mammalia TSSC1 30 31
  • 84.93 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TSSC1 30 31
  • 83.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TSSC1 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tssc1 30
  • 76.92 (n)
Str.16468 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6182 30
Zebrafish
(Danio rerio)
Actinopterygii tssc1 30 31
  • 78.04 (n)
OneToOne
wufj20b01 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006239 30
  • 52.14 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG10646 30 31
  • 50.62 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y87G2A.11 30 31
  • 45.54 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons DWA2 30
  • 47.09 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0554000 30
  • 47.06 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 49 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8095 30
Species where no ortholog for EIPR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EIPR1 Gene

ENSEMBL:
Gene Tree for EIPR1 (if available)
TreeFam:
Gene Tree for EIPR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EIPR1: view image

Paralogs for EIPR1 Gene

No data available for Paralogs for EIPR1 Gene

Variants for EIPR1 Gene

Additional dbSNP identifiers (rs#s) for EIPR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for EIPR1 Gene

Variant ID Type Subtype PubMed ID
dgv1846n106 CNV insertion 24896259
dgv1847n106 CNV deletion 24896259
dgv3702n100 CNV gain 25217958
dgv581e201 CNV deletion 23290073
dgv582e201 CNV deletion 23290073
esv1000150 CNV insertion 20482838
esv1132688 CNV insertion 17803354
esv1275017 CNV insertion 17803354
esv1332508 CNV insertion 17803354
esv1349936 CNV insertion 17803354
esv1457193 CNV insertion 17803354
esv1510808 CNV insertion 17803354
esv1558154 CNV deletion 17803354
esv1597731 CNV deletion 17803354
esv1790966 CNV insertion 17803354
esv2206412 CNV deletion 18987734
esv2535058 CNV deletion 19546169
esv2719482 CNV deletion 23290073
esv2719483 CNV deletion 23290073
esv2719484 CNV deletion 23290073
esv2719486 CNV deletion 23290073
esv2719487 CNV deletion 23290073
esv2719488 CNV deletion 23290073
esv2719489 CNV deletion 23290073
esv2719490 CNV deletion 23290073
esv2719491 CNV deletion 23290073
esv2719492 CNV deletion 23290073
esv2719493 CNV deletion 23290073
esv2719494 CNV deletion 23290073
esv2719495 CNV deletion 23290073
esv2719497 CNV deletion 23290073
esv2719498 CNV deletion 23290073
esv2719499 CNV deletion 23290073
esv2719501 CNV deletion 23290073
esv2719503 CNV deletion 23290073
esv2719504 CNV deletion 23290073
esv2719505 CNV deletion 23290073
esv2719506 CNV deletion 23290073
esv2719509 CNV deletion 23290073
esv2719511 CNV deletion 23290073
esv2719512 CNV deletion 23290073
esv2719513 CNV deletion 23290073
esv2719514 CNV deletion 23290073
esv275148 CNV gain+loss 21479260
esv2762238 CNV loss 21179565
esv3034 CNV loss 18987735
esv3425021 CNV duplication 20981092
esv3427041 CNV duplication 20981092
esv3551578 CNV deletion 23714750
esv3551600 CNV deletion 23714750
esv3551611 CNV deletion 23714750
esv3551644 CNV deletion 23714750
esv3589655 CNV gain 21293372
esv6094 CNV loss 19470904
esv6954 CNV gain 19470904
esv990138 CNV insertion 20482838
esv992005 CNV deletion 20482838
esv992834 CNV deletion 20482838
nsv1003355 CNV gain 25217958
nsv1011656 CNV gain 25217958
nsv1071964 CNV deletion 25765185
nsv1072381 CNV deletion 25765185
nsv1072911 CNV deletion 25765185
nsv1128788 CNV duplication 24896259
nsv1135865 CNV deletion 24896259
nsv1135866 CNV deletion 24896259
nsv1138741 CNV deletion 24896259
nsv1144887 CNV deletion 24896259
nsv1147357 CNV deletion 26484159
nsv1152432 CNV insertion 26484159
nsv1153444 CNV insertion 26484159
nsv146 CNV insertion 15895083
nsv213539 CNV deletion 16902084
nsv213961 CNV deletion 16902084
nsv2581 CNV insertion 18451855
nsv2582 CNV insertion 18451855
nsv2583 CNV insertion 18451855
nsv580772 CNV loss 21841781
nsv580773 CNV loss 21841781
nsv953381 CNV deletion 24416366
nsv953382 CNV deletion 24416366
nsv954741 CNV deletion 24416366
nsv954777 CNV deletion 24416366

Variation tolerance for EIPR1 Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EIPR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EIPR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EIPR1 Gene

Disorders for EIPR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EIPR1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
beckwith-wiedemann syndrome
  • bws
- elite association - COSMIC cancer census association via MalaCards
Search EIPR1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with EIPR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EIPR1 Gene

Publications for EIPR1 Gene

  1. A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes. (PMID: 9403053) Hu RJ … Feinberg AP (Genomics 1997) 2 3 4
  2. TSSC1 is novel component of the endosomal retrieval machinery. (PMID: 27440922) Gershlick DC … Bonifacino JS (Molecular biology of the cell 2016) 3 4
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Subchromosomal assignment1 of the TSSC1 gene to human chromosome band 11p15.5 near the HBB gene cluster. (PMID: 9925925) Scelfo R … Negrini M (Cytogenetics and cell genetics 1998) 2 3

Products for EIPR1 Gene

  • Signalway Proteins for EIPR1

Sources for EIPR1 Gene