REPS1 - RALBP1 associated Eps domain containing 1 Gene

Also Known as NBIA7; RALBP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 85021

About REPS1

Cytogenetic location: 6q24.1 Genomic coordinates (GRCh38): 6:138,903,493-138,988,253 (from NCBI)

This gene has 21 transcripts (splice variants), 226 orthologues, 10 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 17.4), skin (RPKM 9.2) and 25 other tissues.

Summary

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]

REPS1 Products (4)

mRNA	Protein	Name
NM_001128617.3	NP_001122089.1	ralBP1-associated Eps domain-containing protein 1 isoform b
NM_001286611.2	NP_001273540.1	ralBP1-associated Eps domain-containing protein 1 isoform c
NM_001286612.2	NP_001273541.1	ralBP1-associated Eps domain-containing protein 1 isoform d
NM_031922.5	NP_114128.3	ralBP1-associated Eps domain-containing protein 1 isoform a

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables SH3 domain binding	IPI IPI: Inferred from physical interaction	20946875	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20946875	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in clathrin-coated pit	IDA IDA: Inferred from direct assay	20946875	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20946875	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

REPS1 Protein Structure

EF-hand_4

0
200
400
600
796 a.a.

Protein Preferred Names	Protein Names
ralBP1-associated Eps domain-containing protein 1	ralBP1-interacting protein 1

REPS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	REPS1	Q96D71	RALBP1	Homo sapiens	Q15311	Anti Tag CoIP	33961781
Intra	REPS1	Q96D71	RALBP1	Homo sapiens	Q15311	Y2H Fragment Pooling	23414517
Cross	REPS1	Q96D71	Numb	Mus musculus	Q9QZS3-1	Pull Down	23211419

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neurodegeneration With Brain Iron Accumulation 7	NBIA7
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Woodhouse-Sakati Syndrome	Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome Woodhouse Sakati Syndrome Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome WDSKS Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome Neuroectodermal Endocrine Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities Wss
Neurodegeneration With Brain Iron Accumulation 2b	NBIA2B Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Neuroaxonal Dystrophy, Atypical Karak Syndrome Atypical Neuroaxonal Dystrophy Neurodegeneration With Brain Iron Accumulation Pla2g6-Related Neurodegeneration, With Brain Iron Accumulation, Type 2b Neurodegeneration With Brain Iron Accumulation 2
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11845	REPS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	REPS1	MGD	MGI:1196373
Felis catus	REPS1	VGNC	VGNC:64573
Rattus norvegicus	REPS1	RGD	RGD:1307131
Canis familiaris	REPS1	VGNC	VGNC:53759
Bos taurus	REPS1	VGNC	VGNC:33869
Macaca mulatta	REPS1	VGNC	VGNC:76738
Others	REPS1	NCBI