Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	85021
Gene name	RALBP1 associated Eps domain containing 1
Gene symbol	REPS1
Synonyms (NCBI Gene)	NBIA7RALBP1
Chromosome	6
Chromosome location	6q24.1
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-dom

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201191394	G>T	Pathogenic	Coding sequence variant, missense variant
rs1554292444	C>G	Pathogenic	Missense variant, coding sequence variant

102

Show/Hide all (102)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052479	hsa-let-7a-5p	CLASH	23622248
MIRT052248	hsa-let-7b-5p	CLASH	23622248
MIRT041596	hsa-miR-193b-3p	CLASH	23622248
MIRT038049	hsa-miR-423-5p	CLASH	23622248
MIRT615462	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT615461	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT615460	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT615459	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT615458	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615462	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT615461	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT615460	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT615459	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT615458	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615462	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT615461	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT615460	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT615459	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT615458	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615462	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT615461	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT615460	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT615459	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT615458	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT571002	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT571000	hsa-miR-8073	PAR-CLIP	20371350
MIRT571001	hsa-miR-3128	PAR-CLIP	20371350
MIRT570999	hsa-miR-4470	PAR-CLIP	20371350
MIRT497327	hsa-miR-1267	PAR-CLIP	22291592
MIRT497326	hsa-miR-183-3p	PAR-CLIP	22291592
MIRT497325	hsa-miR-4452	PAR-CLIP	22291592
MIRT497324	hsa-miR-1273e	PAR-CLIP	22291592
MIRT497323	hsa-miR-653-5p	PAR-CLIP	22291592
MIRT497322	hsa-miR-6885-3p	PAR-CLIP	22291592
MIRT615462	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT615461	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT615460	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT615459	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT615458	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615462	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT615461	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT615460	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT615459	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT615458	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615462	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT615461	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT615460	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT615459	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT615458	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT615462	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT615461	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT615460	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT615459	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT615458	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT571002	hsa-miR-221-5p	PAR-CLIP	20371350
MIRT571000	hsa-miR-8073	PAR-CLIP	20371350
MIRT571001	hsa-miR-3128	PAR-CLIP	20371350
MIRT570999	hsa-miR-4470	PAR-CLIP	20371350
MIRT497327	hsa-miR-1267	PAR-CLIP	22291592
MIRT497326	hsa-miR-183-3p	PAR-CLIP	22291592
MIRT497325	hsa-miR-4452	PAR-CLIP	22291592
MIRT497324	hsa-miR-1273e	PAR-CLIP	22291592
MIRT497323	hsa-miR-653-5p	PAR-CLIP	22291592
MIRT497322	hsa-miR-6885-3p	PAR-CLIP	22291592
MIRT1300395	hsa-miR-128	CLIP-seq
MIRT1300396	hsa-miR-147	CLIP-seq
MIRT1300397	hsa-miR-27a	CLIP-seq
MIRT1300398	hsa-miR-27b	CLIP-seq
MIRT1300399	hsa-miR-3119	CLIP-seq
MIRT1300400	hsa-miR-3150b-3p	CLIP-seq
MIRT1300401	hsa-miR-337-5p	CLIP-seq
MIRT1300402	hsa-miR-3646	CLIP-seq
MIRT1300403	hsa-miR-3650	CLIP-seq
MIRT1300404	hsa-miR-3911	CLIP-seq
MIRT1300405	hsa-miR-4485	CLIP-seq
MIRT1300406	hsa-miR-4495	CLIP-seq
MIRT1300407	hsa-miR-4536	CLIP-seq
MIRT1300408	hsa-miR-4662a-5p	CLIP-seq
MIRT1300409	hsa-miR-4689	CLIP-seq
MIRT1300410	hsa-miR-4784	CLIP-seq
MIRT1300411	hsa-miR-513a-5p	CLIP-seq
MIRT1300412	hsa-miR-548aa	CLIP-seq
MIRT1300413	hsa-miR-548ac	CLIP-seq
MIRT1300414	hsa-miR-548ae	CLIP-seq
MIRT1300415	hsa-miR-548aj	CLIP-seq
MIRT1300416	hsa-miR-548al	CLIP-seq
MIRT1300417	hsa-miR-548am	CLIP-seq
MIRT1300418	hsa-miR-548d-3p	CLIP-seq
MIRT1300419	hsa-miR-548x	CLIP-seq
MIRT1300420	hsa-miR-548z	CLIP-seq
MIRT1300421	hsa-miR-567	CLIP-seq
MIRT1300422	hsa-miR-644	CLIP-seq
MIRT1300395	hsa-miR-128	CLIP-seq
MIRT1300397	hsa-miR-27a	CLIP-seq
MIRT1300398	hsa-miR-27b	CLIP-seq
MIRT1300401	hsa-miR-337-5p	CLIP-seq
MIRT1300405	hsa-miR-4485	CLIP-seq
MIRT1300411	hsa-miR-513a-5p	CLIP-seq
MIRT1300416	hsa-miR-548al	CLIP-seq
MIRT1300421	hsa-miR-567	CLIP-seq
MIRT1300399	hsa-miR-3119	CLIP-seq
MIRT1300412	hsa-miR-548aa	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	20946875, 23211419, 23414517, 25416956, 31980649, 32203420, 33961781, 35271311
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20946875
GO:0005905	Component	Clathrin-coated pit	IDA	20946875
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006897	Process	Endocytosis	IBA
GO:0016020	Component	Membrane	IEA
GO:0016197	Process	Endosomal transport	IBA
GO:0017124	Function	SH3 domain binding	IPI	20946875
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
614825	15578	ENSG00000135597

Q96D71

Protein name

RalBP1-associated Eps domain-containing protein 1 (RalBP1-interacting protein 1)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12763	EF-hand_4	278 → 373	Cytoskeletal-regulatory complex EF hand	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with highest levels in heart and testis. {ECO:0000269|PubMed:11750063}.

Sequence

MEGLTLSDAEQKYYSDLFSYCDIESTKKVVVNGRVLELFRAAQLPNDVVLQIMELCGATR
LGYFGRSQFYIALKLVAVAQSGFPLRVESINTVKDLPLPRFVASKNEQESRHAASYSSDS
ENQGSYSGVIPPPPGRGQVKKGSVSHDTVQPRTSADAQEPASPVVSPQQSPPTSPHTWRK
HSRHPSGGNSERPLAGPGPFWSPFGEAQSGSSAGDAVWSGHSPPPPQENWVSFADTPPTS
TLLTMHPASVQDQTTVRTVASATTAIEIRRQSSSYDDPWKITDEQRQYYVNQFKTIQPDL
NGFIPGSAAKEFFTKSKLPILELSHIWELSDFDKDGALTLDEFCAAFHLVVARKNGYDLP
EKLPESLMPKLIDLEDSADVGDQPGEVGYSGSPAEAPPSKSPSMPSLNQTWPELNQSSEQ
WETFSERSSSSQTLTQFDSNIAPADPDTAIVHPVPIRMTPSKIHMQEMELKRTGSDHTNP
TSPLLVKPSDLLEENKINSSVKFASGNTVADGYSSSDSFTSDPEQIGSNVTRQRSHSGTS
PDNTAPPPPPPRPQPSHSRSSSLDMNRTFTVTTGQQQAGVVAHPPAVPPRPQPSQAPGPA
VHRPVDADGLITHTSTSPQQIPEQPNFADFSQFEVFAASNVNDEQDDEAEKHPEVLPAEK
ASDPASSLRVAKTDSKTEEKTAASAPANVSKGTTPLAPPPKPVRRRLKSEDELRPEVDEH
TQKTGVLAAVLASQPSIPRSVGKDKKAIQASIRRNKETNTVLARLNSELQQQLKDVLEER
ISLEVQLEQLRPFSHL

Sequence length

796

Interactions

View interactions

	Reactome
			Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodegeneration with brain iron accumulation 7	Pathogenic	rs1554292444	RCV000592202

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Neurodegeneration with brain iron accumulation	Conflicting classifications of pathogenicity	rs201191394	RCV000709993
REPS1-related disorder	Benign; Likely benign; Uncertain significance	rs76082832, rs368209892, rs200320051, rs775659129, rs141996588, rs377719514, rs144226246, rs112636237, rs116376647	RCV003931085 RCV003916291 RCV003923588 RCV003923442 RCV003912113 RCV003941815 RCV003918269 RCV003930696 RCV003913000

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Neuroferritinopathy	Associate	35180557
Pantothenate Kinase Associated Neurodegeneration	Associate	39419454

REPS1 (RALBP1 associated Eps domain containing 1)