UniProtKB - Q96D71 (REPS1_HUMAN)
RalBP1-associated Eps domain-containing protein 1
REPS1
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 331 – 342 | PROSITE-ProRule annotationAdd BLAST | 12 |
GO - Molecular functioni
- calcium ion binding Source: InterPro
- SH3 domain binding Source: UniProtKB
GO - Biological processi
- endocytosis Source: GO_Central
- endosomal transport Source: GO_Central
- membrane organization Source: Reactome
- receptor-mediated endocytosis Source: InterPro
Keywordsi
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q96D71 |
Reactomei | R-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 1Alternative name(s): RalBP1-interacting protein 1 |
Gene namesi | Name:REPS1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15578, REPS1 |
MIMi | 614825, gene |
neXtProti | NX_Q96D71 |
VEuPathDBi | HostDB:ENSG00000135597.18 |
Subcellular locationi
Other locations
- clathrin-coated pit 1 Publication
Note: Colocalize with ITSN1 at the plasma membrane in structures that are most probably clathrin-coated pits.
Cytosol
- cytosol Source: Reactome
Plasma Membrane
- clathrin-coated pit Source: UniProtKB
- plasma membrane Source: UniProtKB
Keywords - Cellular componenti
Coated pit, MembranePathology & Biotechi
Involvement in diseasei
Neurodegeneration with brain iron accumulation 7 (NBIA7)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080634 | 78 | V → 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 PublicationCorresponds to variant dbSNP:rs1554292444EnsemblClinVar. | 1 | |
Natural variantiVAR_080635 | 113 | A → 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 variant, NeurodegenerationOrganism-specific databases
DisGeNETi | 85021 |
MalaCardsi | REPS1 |
MIMi | 617916, phenotype |
OpenTargetsi | ENSG00000135597 |
PharmGKBi | PA34329 |
Miscellaneous databases
Pharosi | Q96D71, Tbio |
Genetic variation databases
BioMutai | REPS1 |
DMDMi | 262527572 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000073829 | 1 – 796 | RalBP1-associated Eps domain-containing protein 1Add BLAST | 796 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 143 | PhosphoserineCombined sources | 1 | |
Modified residuei | 145 | PhosphoserineCombined sources | 1 | |
Modified residuei | 162 | PhosphoserineCombined sources | 1 | |
Modified residuei | 166 | PhosphoserineCombined sources | 1 | |
Modified residuei | 170 | PhosphoserineCombined sources | 1 | |
Modified residuei | 173 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 272 | PhosphoserineCombined sources | 1 | |
Modified residuei | 273 | PhosphoserineCombined sources | 1 | |
Modified residuei | 288 | PhosphotyrosineSequence analysis | 1 | |
Modified residuei | 307 | PhosphoserineCombined sources | 1 | |
Modified residuei | 475 | PhosphoserineCombined sources | 1 | |
Modified residuei | 482 | PhosphoserineCombined sources | 1 | |
Modified residuei | 489 | PhosphoserineCombined sources | 1 | |
Modified residuei | 540 | PhosphoserineCombined sources | 1 | |
Modified residuei | 544 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 562 | PhosphoserineCombined sources | 1 | |
Modified residuei | 709 | PhosphoserineCombined sources | 1 | |
Modified residuei | 740 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q96D71 |
jPOSTi | Q96D71 |
MassIVEi | Q96D71 |
MaxQBi | Q96D71 |
PaxDbi | Q96D71 |
PeptideAtlasi | Q96D71 |
PRIDEi | Q96D71 |
ProteomicsDBi | 76256 [Q96D71-1] 76257 [Q96D71-2] 76258 [Q96D71-3] |
PTM databases
iPTMneti | Q96D71 |
PhosphoSitePlusi | Q96D71 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000135597, Expressed in ventricular zone and 210 other tissues |
ExpressionAtlasi | Q96D71, baseline and differential |
Genevisiblei | Q96D71, HS |
Organism-specific databases
HPAi | ENSG00000135597, Low tissue specificity |
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 PublicationsBinary interactionsi
Hide detailsQ96D71
Isoform 2 [Q96D71-2]
With | #Exp. | IntAct |
---|---|---|
TRAPPC2L [Q9UL33] | 3 | EBI-10284498,EBI-747601 |
Isoform 3 [Q96D71-3]
With | #Exp. | IntAct |
---|---|---|
TRAPPC2L [Q9UL33] | 3 | EBI-10284512,EBI-747601 |
GO - Molecular functioni
- SH3 domain binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 124433, 57 interactors |
IntActi | Q96D71, 42 interactors |
MINTi | Q96D71 |
STRINGi | 9606.ENSP00000392065 |
Miscellaneous databases
RNActi | Q96D71, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 10 – 113 | EH 1PROSITE-ProRule annotationAdd BLAST | 104 | |
Domaini | 285 – 374 | EH 2PROSITE-ProRule annotationAdd BLAST | 90 | |
Domaini | 318 – 353 | EF-handPROSITE-ProRule annotationAdd BLAST | 36 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 652 – 796 | Interaction with RALBP1By similarityAdd BLAST | 145 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 751 – 791 | Sequence analysisAdd BLAST | 41 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 541 – 604 | Pro-richAdd BLAST | 64 |
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG1955, Eukaryota |
GeneTreei | ENSGT00940000158749 |
InParanoidi | Q96D71 |
OMAi | HDTVQSR |
PhylomeDBi | Q96D71 |
TreeFami | TF316546 |
Family and domain databases
CDDi | cd00052, EH, 1 hit |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR000261, EH_dom IPR026814, Reps1 |
PANTHERi | PTHR11216:SF63, PTHR11216:SF63, 1 hit |
Pfami | View protein in Pfam PF12763, EF-hand_4, 1 hit |
SMARTi | View protein in SMART SM00027, EH, 2 hits |
SUPFAMi | SSF47473, SSF47473, 2 hits |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 1 hit PS50222, EF_HAND_2, 1 hit PS50031, EH, 2 hits |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PMG1 | E9PMG1_HUMAN | RalBP1-associated Eps domain-contai... | REPS1 | 737 | Annotation score: | ||
H0YDT0 | H0YDT0_HUMAN | RalBP1-associated Eps domain-contai... | REPS1 | 754 | Annotation score: | ||
H7C1V2 | H7C1V2_HUMAN | RalBP1-associated Eps domain-contai... | REPS1 | 147 | Annotation score: | ||
H7C225 | H7C225_HUMAN | RalBP1-associated Eps domain-contai... | REPS1 | 102 | Annotation score: | ||
F2Z3L2 | F2Z3L2_HUMAN | RalBP1-associated Eps domain-contai... | REPS1 | 220 | Annotation score: | ||
H0YCR2 | H0YCR2_HUMAN | RalBP1-associated Eps domain-contai... | REPS1 | 152 | Annotation score: | ||
H0YE73 | H0YE73_HUMAN | RalBP1-associated Eps domain-contai... | REPS1 | 146 | Annotation score: | ||
H0YCF0 | H0YCF0_HUMAN | RalBP1-associated Eps domain-contai... | REPS1 | 121 | Annotation score: | ||
H0YE89 | H0YE89_HUMAN | RalBP1-associated Eps domain-contai... | REPS1 | 61 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 628 | A → V in AAK34942 (PubMed:11750063).Curated | 1 | |
Sequence conflicti | 717 | V → I in CAD38569 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 794 – 795 | SH → FP in AAH12764 (PubMed:15489334).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080634 | 78 | V → 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 PublicationCorresponds to variant dbSNP:rs1554292444EnsemblClinVar. | 1 | |
Natural variantiVAR_080635 | 113 | A → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_007953 | 420 – 446 | Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST | 27 | |
Alternative sequenceiVSP_007954 | 510 – 573 | Missing in isoform 2. 1 PublicationAdd BLAST | 64 | |
Alternative sequenceiVSP_007955 | 510 | Missing in isoform 3. 1 Publication | 1 |
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 |
CCDSi | CCDS47488.1 [Q96D71-4] CCDS5193.2 [Q96D71-3] CCDS69212.1 [Q96D71-2] CCDS69213.1 [Q96D71-1] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000258062; ENSP00000258062; ENSG00000135597 [Q96D71-3] ENST00000367663; ENSP00000356635; ENSG00000135597 [Q96D71-4] ENST00000409812; ENSP00000386699; ENSG00000135597 [Q96D71-2] ENST00000450536; ENSP00000392065; ENSG00000135597 [Q96D71-1] |
GeneIDi | 85021 |
KEGGi | hsa:85021 |
UCSCi | uc003qig.6, human [Q96D71-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS47488.1 [Q96D71-4] CCDS5193.2 [Q96D71-3] CCDS69212.1 [Q96D71-2] CCDS69213.1 [Q96D71-1] |
RefSeqi | NP_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] |
3D structure databases
BMRBi | Q96D71 |
SMRi | Q96D71 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124433, 57 interactors |
IntActi | Q96D71, 42 interactors |
MINTi | Q96D71 |
STRINGi | 9606.ENSP00000392065 |
PTM databases
iPTMneti | Q96D71 |
PhosphoSitePlusi | Q96D71 |
Genetic variation databases
BioMutai | REPS1 |
DMDMi | 262527572 |
Proteomic databases
EPDi | Q96D71 |
jPOSTi | Q96D71 |
MassIVEi | Q96D71 |
MaxQBi | Q96D71 |
PaxDbi | Q96D71 |
PeptideAtlasi | Q96D71 |
PRIDEi | Q96D71 |
ProteomicsDBi | 76256 [Q96D71-1] 76257 [Q96D71-2] 76258 [Q96D71-3] |
Protocols and materials databases
Antibodypediai | 33064, 105 antibodies |
DNASUi | 85021 |
Genome annotation databases
Ensembli | ENST00000258062; ENSP00000258062; ENSG00000135597 [Q96D71-3] ENST00000367663; ENSP00000356635; ENSG00000135597 [Q96D71-4] ENST00000409812; ENSP00000386699; ENSG00000135597 [Q96D71-2] ENST00000450536; ENSP00000392065; ENSG00000135597 [Q96D71-1] |
GeneIDi | 85021 |
KEGGi | hsa:85021 |
UCSCi | uc003qig.6, human [Q96D71-1] |
Organism-specific databases
CTDi | 85021 |
DisGeNETi | 85021 |
GeneCardsi | REPS1 |
HGNCi | HGNC:15578, REPS1 |
HPAi | ENSG00000135597, Low tissue specificity |
MalaCardsi | REPS1 |
MIMi | 614825, gene 617916, phenotype |
neXtProti | NX_Q96D71 |
OpenTargetsi | ENSG00000135597 |
PharmGKBi | PA34329 |
VEuPathDBi | HostDB:ENSG00000135597.18 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1955, Eukaryota |
GeneTreei | ENSGT00940000158749 |
InParanoidi | Q96D71 |
OMAi | HDTVQSR |
PhylomeDBi | Q96D71 |
TreeFami | TF316546 |
Enzyme and pathway databases
PathwayCommonsi | Q96D71 |
Reactomei | R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis R-HSA-8856828, Clathrin-mediated endocytosis |
Miscellaneous databases
BioGRID-ORCSi | 85021, 21 hits in 993 CRISPR screens |
ChiTaRSi | REPS1, human |
GeneWikii | REPS1 |
GenomeRNAii | 85021 |
Pharosi | Q96D71, Tbio |
PROi | PR:Q96D71 |
RNActi | Q96D71, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135597, Expressed in ventricular zone and 210 other tissues |
ExpressionAtlasi | Q96D71, baseline and differential |
Genevisiblei | Q96D71, HS |
Family and domain databases
CDDi | cd00052, EH, 1 hit |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom IPR000261, EH_dom IPR026814, Reps1 |
PANTHERi | PTHR11216:SF63, PTHR11216:SF63, 1 hit |
Pfami | View protein in Pfam PF12763, EF-hand_4, 1 hit |
SMARTi | View protein in SMART SM00027, EH, 2 hits |
SUPFAMi | SSF47473, SSF47473, 2 hits |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 1 hit PS50222, EF_HAND_2, 1 hit PS50031, EH, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | REPS1_HUMAN | |
Accessioni | Q96D71Primary (citable) accession number: Q96D71 Secondary accession number(s): B7ZBZ8 Q9BXY9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 15, 2003 |
Last sequence update: | November 3, 2009 | |
Last modified: | April 7, 2021 | |
This is version 180 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot