• Gene id: 85021

Gene Summary

• Gene Symbol: REPS1   Gene   UCSC   Ensembl
• Aliases: NBIA7, RALBP1
• Gene name: RALBP1 associated Eps domain containing 1
• Alternate names: ralBP1-associated Eps domain-containing protein 1, ralBP1-interacting protein 1,
• Gene location: 6q24.1 (138988260: 138903492)     Exons: 21     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 614825

Protein Summary

• Protein general information: Q96D71  
  • Name: RalBP1 associated Eps domain containing protein 1 (RalBP1 interacting protein 1)
  • Length: 796  
  • Mass: 86662
  • Tissue specificity: Widely expressed with highest levels in heart and testis. {ECO
• Sequence:

  MEGLTLSDAEQKYYSDLFSYCDIESTKKVVVNGRVLELFRAAQLPNDVVLQIMELCGATRLGYFGRSQFYIALKL
  VAVAQSGFPLRVESINTVKDLPLPRFVASKNEQESRHAASYSSDSENQGSYSGVIPPPPGRGQVKKGSVSHDTVQ
  PRTSADAQEPASPVVSPQQSPPTSPHTWRKHSRHPSGGNSERPLAGPGPFWSPFGEAQSGSSAGDAVWSGHSPPP
  PQENWVSFADTPPTSTLLTMHPASVQDQTTVRTVASATTAIEIRRQSSSYDDPWKITDEQRQYYVNQFKTIQPDL
  NGFIPGSAAKEFFTKSKLPILELSHIWELSDFDKDGALTLDEFCAAFHLVVARKNGYDLPEKLPESLMPKLIDLE
  DSADVGDQPGEVGYSGSPAEAPPSKSPSMPSLNQTWPELNQSSEQWETFSERSSSSQTLTQFDSNIAPADPDTAI
  VHPVPIRMTPSKIHMQEMELKRTGSDHTNPTSPLLVKPSDLLEENKINSSVKFASGNTVADGYSSSDSFTSDPEQ
  IGSNVTRQRSHSGTSPDNTAPPPPPPRPQPSHSRSSSLDMNRTFTVTTGQQQAGVVAHPPAVPPRPQPSQAPGPA
  VHRPVDADGLITHTSTSPQQIPEQPNFADFSQFEVFAASNVNDEQDDEAEKHPEVLPAEKASDPASSLRVAKTDS
  KTEEKTAASAPANVSKGTTPLAPPPKPVRRRLKSEDELRPEVDEHTQKTGVLAAVLASQPSIPRSVGKDKKAIQA
  SIRRNKETNTVLARLNSELQQQLKDVLEERISLEVQLEQLRPFSHL

• Structural information:
  • Protein Domains: (10..11-)
    (/note="EH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (285..37-)
    (/note="EH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (318..35-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR000261  IPR026814  
  • Prosite: PS00018 PS50222 PS50031
  • CDD: cd00052
  • STRING: ENSP00000392065
• Other Databases: GeneCards:  REPS1  Malacards:  REPS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016197	endosomal transport	IBA	biological process
GO:0030132	clathrin coat of coated pit	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006898	receptor-mediated endocytosis	IEA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Neurodegeneration with brain iron accumulation	KEGG:H00833
Neurodegeneration with brain iron accumulation	KEGG:H00833
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq