Free for academic non-profit institutions. Other users need a Commercial license

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
  • Tumor Suppressing Subtransferable Candidate 1 2 3
  • Tumor-Suppressing STF CDNA 1 Protein 3 4
  • TSSC1 3 4
  • Tumor-Suppressing Subtransferable Fragment Candidate Gene 1 3
  • EARP-Interacting Protein 3
  • Protein TSSC1 3
  • EIPR-1 3

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.

Gene Wiki entry for EIPR1 Gene

Additional gene information for EIPR1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIPR1 Gene

Genomics for EIPR1 Gene

GeneHancer (GH) Regulatory Elements for EIPR1 Gene

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 dbSUPER 650.7 -1.1 -1127 4.6 MLX DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC GLIS1 TRAPPC12 EIPR1 TRAPPC12-AS1
GH02J003221 Enhancer 1.4 FANTOM5 Ensembl ENCODE 6.1 +154.5 154488 3.1 PKNOX1 NEUROD1 SIN3A STAT5A BMI1 BATF KLF5 IRF4 ZNF207 ZNF143 EIPR1 ENSG00000235078 GC02M003244 GC02M003097
GH02J003264 Enhancer 0.9 VISTA ENCODE 7 +112.1 112130 2.7 MAX EZH2 NR2F2 SPI1 EIPR1 GC02M003270 PIR42894
GH02J003253 Enhancer 0.8 ENCODE 7.2 +123.4 123351 1.5 ZFP64 STAT5A BMI1 BATF KLF5 IRF4 ATF7 IKZF2 RUNX3 CREM PIR42894 EIPR1 GC02M003270
GH02J003276 Enhancer 0.4 FANTOM5 6.4 +100.9 100883 0.2 EGR1 EGR2 EIPR1 GC02M003270 EIPR1-IT1
- 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 UCSC Golden Path with GeneCards custom track

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-interacting protein
    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 EARP complex components VPS50 and VPS51, and SNAP29.

neXtProt entry for EIPR1 Gene

Post-translational modifications for EIPR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

Phenotypes From GWAS Catalog for EIPR1 Gene

genes like me logo Genes that share phenotypes with EIPR1: view

Animal Model Products

Clone Products

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

Localization for EIPR1 Gene

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
cytoskeleton 3
nucleus 3
cytosol 3
golgi apparatus 1

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EIPR1 Gene

Pathways & Interactions for EIPR1 Gene

SuperPathways for EIPR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EIPR1 Gene

None

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

Clone Products

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

No ASD Table

Relevant External Links for EIPR1 Gene

GeneLoc Exon Structure for
EIPR1
ECgene alternative splicing isoforms for
EIPR1

Expression for EIPR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EIPR1 Gene:

EIPR1

Evidence on tissue expression from TISSUES for EIPR1 Gene

  • Nervous system(4.2)
No Expression Related Data Available

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 34 33
  • 96.04 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSSC1 34
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSSC1 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TSSC1 34 33
  • 88.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tssc1 34 33
  • 87.05 (n)
OneToOne
Eipr1 16
rat
(Rattus norvegicus)
Mammalia Tssc1 33
  • 86.27 (n)
cow
(Bos Taurus)
Mammalia TSSC1 34 33
  • 84.93 (n)
OneToOne
chicken
(Gallus gallus)
Aves TSSC1 34 33
  • 83.27 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSSC1 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tssc1 33
  • 76.92 (n)
Str.16468 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6182 33
zebrafish
(Danio rerio)
Actinopterygii tssc1 34 33
  • 78.04 (n)
OneToOne
wufj20b01 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006239 33
  • 52.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10646 34 33
  • 50.62 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y87G2A.11 34 33
  • 45.54 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons DWA2 33
  • 47.09 (n)
rice
(Oryza sativa)
Liliopsida Os08g0554000 33
  • 47.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToOne
Cin.8095 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8095 33
Species where no ortholog for EIPR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

Sequence variations from dbSNP and Humsavar for EIPR1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000008140 -- 3,287,836(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000040378 -- 3,331,165(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000043431 -- 3,251,656(-) G/C intron_variant
rs1000067738 -- 3,363,551(-) C/A/T genic_upstream_transcript_variant, intron_variant
rs1000085371 -- 3,322,839(-) G/A genic_upstream_transcript_variant, intron_variant

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 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

Additional Disease Information for EIPR1

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 58
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  3. 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 58
  4. 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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for EIPR1 Gene

Sources for EIPR1 Gene

Content
Loading form....