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UniProtKB - Q96D71 (REPS1_HUMAN)

Protein

RalBP1-associated Eps domain-containing protein 1

Gene

REPS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi331 – 342PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • SH3 domain binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Names & Taxonomyi

Protein namesi
Recommended name:
RalBP1-associated Eps domain-containing protein 1
Alternative name(s):
RalBP1-interacting protein 1
Gene namesi
Name:REPS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000135597.18
HGNCiHGNC:15578 REPS1
MIMi614825 gene
neXtProtiNX_Q96D71

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Coated pit, Membrane

Pathology & Biotechi

Involvement in diseasei

Neurodegeneration with brain iron accumulation 7 (NBIA7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617916
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08063478V → L in NBIA7; primary fibroblasts from patients, who are compound heterozygous with E-113, show much higher intracellular iron content than fibroblasts from control individuals and abnormally elevated levels of transferrin receptor 1/TFRC at the cell surface. 1 Publication1
Natural variantiVAR_080635113A → E in NBIA7; primary fibroblasts from patients, who are compound heterozygous with L-78, show much higher intracellular iron content than fibroblasts from control individuals and abnormally elevated levels of transferrin receptor 1/TFRC at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs201191394EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi85021
MalaCardsiREPS1
MIMi617916 phenotype
OpenTargetsiENSG00000135597
PharmGKBiPA34329

Polymorphism and mutation databases

DMDMi262527572

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000738291 – 796RalBP1-associated Eps domain-containing protein 1Add BLAST796

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei143PhosphoserineCombined sources1
Modified residuei145PhosphoserineCombined sources1
Modified residuei162PhosphoserineCombined sources1
Modified residuei166PhosphoserineCombined sources1
Modified residuei170PhosphoserineCombined sources1
Modified residuei173PhosphothreonineCombined sources1
Modified residuei272PhosphoserineCombined sources1
Modified residuei273PhosphoserineCombined sources1
Modified residuei288PhosphotyrosineSequence analysis1
Modified residuei307PhosphoserineCombined sources1
Modified residuei475PhosphoserineCombined sources1
Modified residuei482PhosphoserineCombined sources1
Modified residuei489PhosphoserineCombined sources1
Modified residuei540PhosphoserineCombined sources1
Modified residuei544PhosphothreonineBy similarity1
Modified residuei562PhosphoserineCombined sources1
Modified residuei709PhosphoserineCombined sources1
Modified residuei740PhosphoserineCombined sources1

Post-translational modificationi

EGF stimulates phosphorylation on Tyr-residues.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96D71
MaxQBiQ96D71
PaxDbiQ96D71
PeptideAtlasiQ96D71
PRIDEiQ96D71
ProteomicsDBi76256
76257 [Q96D71-2]
76258 [Q96D71-3]

PTM databases

iPTMnetiQ96D71
PhosphoSitePlusiQ96D71

Miscellaneous databases

PMAP-CutDBiQ96D71

Expressioni

Tissue specificityi

Widely expressed with highest levels in heart and testis.1 Publication

Gene expression databases

BgeeiENSG00000135597 Expressed in 195 organ(s), highest expression level in right uterine tube
CleanExiHS_REPS1
ExpressionAtlasiQ96D71 baseline and differential
GenevisibleiQ96D71 HS

Organism-specific databases

HPAiHPA029961
HPA029962

Interactioni

Subunit structurei

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.By similarityCurated2 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi124433, 45 interactors
IntActiQ96D71, 17 interactors
MINTiQ96D71
STRINGi9606.ENSP00000258062

Structurei

3D structure databases

ProteinModelPortaliQ96D71
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini10 – 113EH 1PROSITE-ProRule annotationAdd BLAST104
Domaini285 – 374EH 2PROSITE-ProRule annotationAdd BLAST90
Domaini318 – 353EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni652 – 796Interaction with RALBP1By similarityAdd BLAST145

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili751 – 791Sequence analysisAdd BLAST41

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi541 – 604Pro-richAdd BLAST64

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG1955 Eukaryota
ENOG410ZSYS LUCA
GeneTreeiENSGT00760000118985
HOVERGENiHBG056372
InParanoidiQ96D71
KOiK20068
OMAiSQFQAFA
OrthoDBiEOG091G028Q
PhylomeDBiQ96D71
TreeFamiTF316546

Family and domain databases

CDDicd00052 EH, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR000261 EH_dom
IPR026814 Reps1
PANTHERiPTHR11216:SF63 PTHR11216:SF63, 1 hit
PfamiView protein in Pfam
PF12763 EF-hand_4, 1 hit
SMARTiView protein in SMART
SM00027 EH, 2 hits
SUPFAMiSSF47473 SSF47473, 2 hits
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 1 hit
PS50031 EH, 2 hits

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96D71-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEGLTLSDAE QKYYSDLFSY CDIESTKKVV VNGRVLELFR AAQLPNDVVL 
        60         70         80         90        100
QIMELCGATR LGYFGRSQFY IALKLVAVAQ SGFPLRVESI NTVKDLPLPR 
       110        120        130        140        150
FVASKNEQES RHAASYSSDS ENQGSYSGVI PPPPGRGQVK KGSVSHDTVQ 
       160        170        180        190        200
PRTSADAQEP ASPVVSPQQS PPTSPHTWRK HSRHPSGGNS ERPLAGPGPF 
       210        220        230        240        250
WSPFGEAQSG SSAGDAVWSG HSPPPPQENW VSFADTPPTS TLLTMHPASV 
       260        270        280        290        300
QDQTTVRTVA SATTAIEIRR QSSSYDDPWK ITDEQRQYYV NQFKTIQPDL 
       310        320        330        340        350
NGFIPGSAAK EFFTKSKLPI LELSHIWELS DFDKDGALTL DEFCAAFHLV 
       360        370        380        390        400
VARKNGYDLP EKLPESLMPK LIDLEDSADV GDQPGEVGYS GSPAEAPPSK 
       410        420        430        440        450
SPSMPSLNQT WPELNQSSEQ WETFSERSSS SQTLTQFDSN IAPADPDTAI 
       460        470        480        490        500
VHPVPIRMTP SKIHMQEMEL KRTGSDHTNP TSPLLVKPSD LLEENKINSS 
       510        520        530        540        550
VKFASGNTVA DGYSSSDSFT SDPEQIGSNV TRQRSHSGTS PDNTAPPPPP 
       560        570        580        590        600
PRPQPSHSRS SSLDMNRTFT VTTGQQQAGV VAHPPAVPPR PQPSQAPGPA 
       610        620        630        640        650
VHRPVDADGL ITHTSTSPQQ IPEQPNFADF SQFEVFAASN VNDEQDDEAE 
       660        670        680        690        700
KHPEVLPAEK ASDPASSLRV AKTDSKTEEK TAASAPANVS KGTTPLAPPP 
       710        720        730        740        750
KPVRRRLKSE DELRPEVDEH TQKTGVLAAV LASQPSIPRS VGKDKKAIQA 
       760        770        780        790 
SIRRNKETNT VLARLNSELQ QQLKDVLEER ISLEVQLEQL RPFSHL
Length:796
Mass (Da):86,662
Last modified:November 3, 2009 - v3
Checksum:iFAD7A57ED6206922
GO
Isoform 2 (identifier: Q96D71-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     420-446: Missing.
     510-573: Missing.

Show »
Length:705
Mass (Da):76,838
Checksum:iC375BFF6E173C843
GO
Isoform 3 (identifier: Q96D71-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     510-510: Missing.

Show »
Length:795
Mass (Da):86,591
Checksum:i2D6D923DD16DF61C
GO
Isoform 4 (identifier: Q96D71-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     420-446: Missing.

Show »
Length:769
Mass (Da):83,650
Checksum:i9AC8680B338B86D2
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YDT0H0YDT0_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
754Annotation score:
E9PMG1E9PMG1_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
737Annotation score:
H7C1V2H7C1V2_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
147Annotation score:
H7C225H7C225_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
102Annotation score:
H0YE73H0YE73_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
146Annotation score:
H0YCF0H0YCF0_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
121Annotation score:
H0YCR2H0YCR2_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
152Annotation score:
F2Z3L2F2Z3L2_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
220Annotation score:
H0YE89H0YE89_HUMAN
RalBP1-associated Eps domain-contai...
REPS1
61Annotation score:

Sequence cautioni

The sequence AAH12764 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH21211 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAK34942 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti628A → V in AAK34942 (PubMed:11750063).Curated1
Sequence conflicti717V → I in CAD38569 (PubMed:17974005).Curated1
Sequence conflicti794 – 795SH → FP in AAH12764 (PubMed:15489334).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08063478V → L in NBIA7; primary fibroblasts from patients, who are compound heterozygous with E-113, show much higher intracellular iron content than fibroblasts from control individuals and abnormally elevated levels of transferrin receptor 1/TFRC at the cell surface. 1 Publication1
Natural variantiVAR_080635113A → E in NBIA7; primary fibroblasts from patients, who are compound heterozygous with L-78, show much higher intracellular iron content than fibroblasts from control individuals and abnormally elevated levels of transferrin receptor 1/TFRC at the cell surface. 1 PublicationCorresponds to variant dbSNP:rs201191394EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_007953420 – 446Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_007954510 – 573Missing in isoform 2. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_007955510Missing in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL121834 Genomic DNA No translation available.
AL590308 Genomic DNA No translation available.
AL591033 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47904.1
CH471051 Genomic DNA Translation: EAW47906.1
CH471051 Genomic DNA Translation: EAW47907.1
BC012764 mRNA Translation: AAH12764.1 Different initiation.
BC021211 mRNA Translation: AAH21211.1 Different initiation.
DB263697 mRNA No translation available.
AF251052 mRNA Translation: AAK34942.1 Different initiation.
AL832307 mRNA No translation available.
AL831900 mRNA Translation: CAD38569.1
CCDSiCCDS47488.1 [Q96D71-4]
CCDS5193.2 [Q96D71-3]
CCDS69212.1 [Q96D71-2]
CCDS69213.1 [Q96D71-1]
RefSeqiNP_001122089.1, NM_001128617.2 [Q96D71-4]
NP_001273540.1, NM_001286611.1 [Q96D71-1]
NP_001273541.1, NM_001286612.1 [Q96D71-2]
NP_114128.3, NM_031922.4 [Q96D71-3]
UniGeneiHs.334603
Hs.732041

Genome annotation databases

EnsembliENST00000258062; ENSP00000258062; ENSG00000135597 [Q96D71-3]
ENST00000367663; ENSP00000356635; ENSG00000135597 [Q96D71-4]
ENST00000409812; ENSP00000386699; ENSG00000135597 [Q96D71-2]
ENST00000450536; ENSP00000392065; ENSG00000135597 [Q96D71-1]
GeneIDi85021
KEGGihsa:85021
UCSCiuc003qig.6 human [Q96D71-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL121834 Genomic DNA No translation available.
AL590308 Genomic DNA No translation available.
AL591033 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47904.1
CH471051 Genomic DNA Translation: EAW47906.1
CH471051 Genomic DNA Translation: EAW47907.1
BC012764 mRNA Translation: AAH12764.1 Different initiation.
BC021211 mRNA Translation: AAH21211.1 Different initiation.
DB263697 mRNA No translation available.
AF251052 mRNA Translation: AAK34942.1 Different initiation.
AL832307 mRNA No translation available.
AL831900 mRNA Translation: CAD38569.1
CCDSiCCDS47488.1 [Q96D71-4]
CCDS5193.2 [Q96D71-3]
CCDS69212.1 [Q96D71-2]
CCDS69213.1 [Q96D71-1]
RefSeqiNP_001122089.1, NM_001128617.2 [Q96D71-4]
NP_001273540.1, NM_001286611.1 [Q96D71-1]
NP_001273541.1, NM_001286612.1 [Q96D71-2]
NP_114128.3, NM_031922.4 [Q96D71-3]
UniGeneiHs.334603
Hs.732041

3D structure databases

ProteinModelPortaliQ96D71
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124433, 45 interactors
IntActiQ96D71, 17 interactors
MINTiQ96D71
STRINGi9606.ENSP00000258062

PTM databases

iPTMnetiQ96D71
PhosphoSitePlusiQ96D71

Polymorphism and mutation databases

DMDMi262527572

Proteomic databases

EPDiQ96D71
MaxQBiQ96D71
PaxDbiQ96D71
PeptideAtlasiQ96D71
PRIDEiQ96D71
ProteomicsDBi76256
76257 [Q96D71-2]
76258 [Q96D71-3]

Protocols and materials databases

DNASUi85021
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258062; ENSP00000258062; ENSG00000135597 [Q96D71-3]
ENST00000367663; ENSP00000356635; ENSG00000135597 [Q96D71-4]
ENST00000409812; ENSP00000386699; ENSG00000135597 [Q96D71-2]
ENST00000450536; ENSP00000392065; ENSG00000135597 [Q96D71-1]
GeneIDi85021
KEGGihsa:85021
UCSCiuc003qig.6 human [Q96D71-1]

Organism-specific databases

CTDi85021
DisGeNETi85021
EuPathDBiHostDB:ENSG00000135597.18
GeneCardsiREPS1
HGNCiHGNC:15578 REPS1
HPAiHPA029961
HPA029962
MalaCardsiREPS1
MIMi614825 gene
617916 phenotype
neXtProtiNX_Q96D71
OpenTargetsiENSG00000135597
PharmGKBiPA34329
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1955 Eukaryota
ENOG410ZSYS LUCA
GeneTreeiENSGT00760000118985
HOVERGENiHBG056372
InParanoidiQ96D71
KOiK20068
OMAiSQFQAFA
OrthoDBiEOG091G028Q
PhylomeDBiQ96D71
TreeFamiTF316546

Enzyme and pathway databases

ReactomeiR-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

Miscellaneous databases

ChiTaRSiREPS1 human
GeneWikiiREPS1
GenomeRNAii85021
PMAP-CutDBiQ96D71
PROiPR:Q96D71
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135597 Expressed in 195 organ(s), highest expression level in right uterine tube
CleanExiHS_REPS1
ExpressionAtlasiQ96D71 baseline and differential
GenevisibleiQ96D71 HS

Family and domain databases

CDDicd00052 EH, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR000261 EH_dom
IPR026814 Reps1
PANTHERiPTHR11216:SF63 PTHR11216:SF63, 1 hit
PfamiView protein in Pfam
PF12763 EF-hand_4, 1 hit
SMARTiView protein in SMART
SM00027 EH, 2 hits
SUPFAMiSSF47473 SSF47473, 2 hits
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 1 hit
PS50222 EF_HAND_2, 1 hit
PS50031 EH, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiREPS1_HUMAN
AccessioniPrimary (citable) accession number: Q96D71
Secondary accession number(s): B7ZBZ8
, B7ZBZ9, B7ZC00, J3KP76, Q5JWJ5, Q5JWJ6, Q5JWJ7, Q8NDR7, Q8WU62, Q9BXY9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: November 3, 2009
Last modified: November 7, 2018
This is version 161 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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