This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coat... See more...

Aliases for REPS1 Gene

Aliases for REPS1 Gene

  • RALBP1 Associated Eps Domain Containing 1 2 3 5
  • RalBP1-Associated Eps Domain-Containing Protein 1 3 4
  • RalBP1-Interacting Protein 1 3 4
  • RALBP1 3
  • NBIA7 3
  • REPS1 5

External Ids for REPS1 Gene

Previous GeneCards Identifiers for REPS1 Gene

  • GC06M138848
  • GC06M139073
  • GC06M139206
  • GC06M139267
  • GC06M136787

Summaries for REPS1 Gene

Entrez Gene Summary for REPS1 Gene

  • This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

GeneCards Summary for REPS1 Gene

REPS1 (RALBP1 Associated Eps Domain Containing 1) is a Protein Coding gene. Diseases associated with REPS1 include Neurodegeneration With Brain Iron Accumulation 7 and Neurodegeneration With Brain Iron Accumulation. Among its related pathways are Clathrin-mediated endocytosis and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is REPS2.

UniProtKB/Swiss-Prot Summary for REPS1 Gene

  • May coordinate the cellular actions of activated EGF receptors and Ral-GTPases.

Gene Wiki entry for REPS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for REPS1 Gene

Genomics for REPS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for REPS1 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
GH06J138985 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 259.3 +0.9 916 3.7 BCLAF1 ZNF654 MYC ZNF600 ZNF580 POLR2A CEBPA ZNF223 BRCA1 ZIC2 REPS1 HSALNG0053854 HSALNG0053853 ECT2L
GH06J138816 Enhancer 1.1 Ensembl ENCODE 28.7 +169.5 169462 5.3 BCLAF1 ZNF654 JUND POLR2A BCL11A REST TRIM22 HOMEZ CTCF ZNF217 REPS1 ECT2L ACKR4P1 lnc-GVQW2-3 HSALNG0053846
GH06J139366 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10 -384.0 -384045 11.4 BCLAF1 SP1 ZNF654 ZNF207 NCOR1 IKZF1 MYC ZNF600 SSRP1 ZNF580 CITED2 HSALNG0053877 ENSG00000226571 REPS1 HEBP2 lnc-HECA-11 TXLNB MN297907-007
GH06J138815 Enhancer 1 Ensembl ENCODE 21.8 +173.9 173925 1.1 CEBPA FEZF1 HOMEZ KMT2B THAP11 FOXA2 KDM6A SMAD4 SAP130 ETV4 REPS1 ACKR4P1 HSALNG0053846 ECT2L
GH06J139131 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.7 -147.9 -147940 9.2 SP1 ZNF207 MYC ZNF600 JUND ATF2 BRCA1 POLR2A ZIC2 CHD4 HECA ENSG00000226571 REPS1 ABRACL TXLNB ECT2L piR-47675-094 RF00017-5303 MN297907-007
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around REPS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for REPS1

Top Transcription factor binding sites by QIAGEN in the REPS1 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • C/EBPalpha
  • FOXO3
  • FOXO4
  • Pbx1a

Genomic Locations for REPS1 Gene

Latest Assembly
chr6:138,903,493-138,988,261
(GRCh38/hg38)
Size:
84,769 bases
Orientation:
Minus strand

Previous Assembly
chr6:139,224,630-139,309,390
(GRCh37/hg19 by Entrez Gene)
Size:
84,761 bases
Orientation:
Minus strand

chr6:139,224,630-139,309,398
(GRCh37/hg19 by Ensembl)
Size:
84,769 bases
Orientation:
Minus strand

Genomic View for REPS1 Gene

Genes around REPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REPS1 Gene

Proteins for REPS1 Gene

  • Protein details for REPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D71-REPS1_HUMAN
    Recommended name:
    RalBP1-associated Eps domain-containing protein 1
    Protein Accession:
    Q96D71
    Secondary Accessions:
    • B7ZBZ8
    • B7ZBZ9
    • B7ZC00
    • J3KP76
    • Q5JWJ5
    • Q5JWJ6
    • Q5JWJ7
    • Q8NDR7
    • Q8WU62
    • Q9BXY9

    Protein attributes for REPS1 Gene

    Size:
    796 amino acids
    Molecular mass:
    86662 Da
    Quaternary structure:
    • Homodimer (Potential). Interacts with RAB11FIP2. Interacts with RALBP1, CRK and GRB2. Binding to RALBP1 does not affect its Ral-binding activity. Forms a complex with the SH3 domains of CRK and GRB2 which may link it to an EGF-responsive tyrosine kinase (By similarity). Interacts with AMPH, ITSN1 (via SH3 domains) and SGIP1; may be involved in clathrin-mediated endocytosis.
    SequenceCaution:
    • Sequence=AAH12764.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH21211.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAK34942.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for REPS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REPS1 Gene

Post-translational modifications for REPS1 Gene

No data available for DME Specific Peptides for REPS1 Gene

Domains & Families for REPS1 Gene

Gene Families for REPS1 Gene

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

Protein Domains for REPS1 Gene

InterPro:
Blocks:
  • EPS15 homology (EH)

Suggested Antigen Peptide Sequences for REPS1 Gene

GenScript: Design optimal peptide antigens:
  • RALBP1 associated Eps domain containing 1 (Q5JWJ8_HUMAN)
  • RalBP1-interacting protein 1 (REPS1_HUMAN)
genes like me logo Genes that share domains with REPS1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for REPS1 Gene

Function for REPS1 Gene

Molecular function for REPS1 Gene

UniProtKB/Swiss-Prot Function:
May coordinate the cellular actions of activated EGF receptors and Ral-GTPases.

Phenotypes From GWAS Catalog for REPS1 Gene

Gene Ontology (GO) - Molecular Function for REPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,IPI 20946875
GO:0017124 SH3 domain binding IPI 20946875
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with REPS1: view

Phenotypes for REPS1 Gene

genes like me logo Genes that share phenotypes with REPS1: view

Human Phenotype Ontology for REPS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REPS1

Clone products for research

  • Addgene plasmids for REPS1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for REPS1 Gene

Localization for REPS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REPS1 Gene

Membrane, clathrin-coated pit. Note=Colocalize with ITSN1 at the plasma membrane in structures that are most probably clathrin-coated pits.

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 REPS1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 4
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for REPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 20946875
GO:0005905 clathrin-coated pit IEA,IDA 20946875
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with REPS1: view

Pathways & Interactions for REPS1 Gene

genes like me logo Genes that share pathways with REPS1: view

Pathways by source for REPS1 Gene

2 GeneGo (Thomson Reuters) pathways for REPS1 Gene
  • Cytoskeleton remodeling_RalA regulation pathway
  • Cytoskeleton remodeling_RalB regulation pathway
1 Cell Signaling Technology pathway for REPS1 Gene

Gene Ontology (GO) - Biological Process for REPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IBA 21873635
GO:0006898 receptor-mediated endocytosis IEA --
GO:0016197 endosomal transport IBA 21873635
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with REPS1: view

No data available for SIGNOR curated interactions for REPS1 Gene

Drugs & Compounds for REPS1 Gene

No Compound Related Data Available

Transcripts for REPS1 Gene

mRNA/cDNA for REPS1 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REPS1

Clone products for research

  • Addgene plasmids for REPS1

Alternative Splicing Database (ASD) splice patterns (SP) for REPS1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: -
SP6: - -
SP7: -
SP8: -
SP9:

ExUns: 17 ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - -
SP8:
SP9:

Relevant External Links for REPS1 Gene

GeneLoc Exon Structure for
REPS1

Expression for REPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for REPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lung (Respiratory System)

Protein differential expression in normal tissues from HIPED for REPS1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.4), Placenta (8.2), Fetal ovary (8.0), and Testis (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for REPS1 Gene



Protein tissue co-expression partners for REPS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for REPS1

SOURCE GeneReport for Unigene cluster for REPS1 Gene:

Hs.334603

mRNA Expression by UniProt/SwissProt for REPS1 Gene:

Q96D71-REPS1_HUMAN
Tissue specificity: Widely expressed with highest levels in heart and testis.

Evidence on tissue expression from TISSUES for REPS1 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Blood(4.3)
  • Spleen(2.5)
  • Intestine(2.5)
  • Skin(2.2)
  • Kidney(2.2)
  • Pancreas(2.1)
  • Stomach(2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with REPS1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for REPS1 Gene

Orthologs for REPS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for REPS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia REPS1 29 30
  • 99.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia REPS1 29
  • 95.16 (n)
-- 30
  • 95 (a)
OneToMany
-- 30
  • 94 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia REPS1 29 30
  • 94.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia REPS1 30
  • 94 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 92 (a)
OneToMany
-- 30
  • 68 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Reps1 29 16 30
  • 90.31 (n)
OneToOne
Chicken
(Gallus gallus)
Aves REPS1 29 30
  • 85.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia REPS1 30
  • 85 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii reps1 29 30
  • 70.29 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Reps 30
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToMany
Species where no ortholog for REPS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for REPS1 Gene

ENSEMBL:
Gene Tree for REPS1 (if available)
TreeFam:
Gene Tree for REPS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for REPS1: view image
Alliance of Genome Resources:
Additional Orthologs for REPS1

Paralogs for REPS1 Gene

Paralogs for REPS1 Gene

(3) SIMAP similar genes for REPS1 Gene using alignment to 11 proteins:

  • REPS1_HUMAN
  • E9PMG1_HUMAN
  • F2Z3L2_HUMAN
  • H0YCF0_HUMAN
  • H0YCR2_HUMAN
  • H0YDT0_HUMAN
  • H0YE73_HUMAN
  • H0YE89_HUMAN
  • H7C1V2_HUMAN
  • H7C225_HUMAN
  • J3KP76_HUMAN
genes like me logo Genes that share paralogs with REPS1: view

Variants for REPS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for REPS1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs112636237 Benign: not provided 138,945,364(-) T/G
NM_001286611.1(REPS1):c.483A>C (p.Ala161=)
SYNONYMOUS
rs116376647 Benign: not provided 138,945,531(-) C/T
NM_001286611.1(REPS1):c.444G>A (p.Thr148=)
SYNONYMOUS
rs140387177 Likely Benign: Neurodegeneration with brain iron accumulation 7 138,912,809(-) C/T
NM_031922.4(REPS1):c.1924G>A (p.Asp642Asn)
MISSENSE
rs144226246 Likely Benign: Neurodegeneration with brain iron accumulation 7 138,911,287(-) G/A
NM_001286611.1(REPS1):c.2056C>T (p.Pro686Ser)
MISSENSE
rs155429244 Neurodegeneration with brain iron accumulation 7 (NBIA7) [MIM:617916] p.Val78Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for REPS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for REPS1 Gene

Variant ID Type Subtype PubMed ID
esv2732774 CNV deletion 23290073
esv3304021 CNV mobile element insertion 20981092
esv3308423 CNV mobile element insertion 20981092

Variation tolerance for REPS1 Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.48; 77.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for REPS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
REPS1
Leiden Open Variation Database (LOVD)
REPS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REPS1 Gene

Disorders for REPS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for REPS1 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search REPS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

REPS1_HUMAN
  • Neurodegeneration with brain iron accumulation 7 (NBIA7) [MIM:617916]: A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Clinical features include speech and motor delay, truncal hypotonia, progressive cerebellar ataxia, and loss of ambulation. NBIA7 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:29395073}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for REPS1

genes like me logo Genes that share disorders with REPS1: view

No data available for Genatlas for REPS1 Gene

Publications for REPS1 Gene

  1. Cloning, expression and characterization of a novel human REPS1 gene. (PMID: 11750063) Xu J … Mao Y (Biochimica et biophysica acta 2001) 3 4 22
  2. Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. (PMID: 29395073) Drecourt A … Rötig A (American journal of human genetics 2018) 4 72
  3. Intersectin 1 forms complexes with SGIP1 and Reps1 in clathrin-coated pits. (PMID: 20946875) Dergai O … Rynditch A (Biochemical and biophysical research communications 2010) 3 4
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. 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

Products for REPS1 Gene

Sources for REPS1 Gene