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Protein

RalBP1-associated Eps domain-containing protein 2

Gene

REPS2

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

Functioni

Involved in growth factor signaling through its influence on the Ral signaling pathway.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi328 – 339PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • calcium ion binding Source: ProtInc

GO - Biological processi

  • epidermal growth factor receptor signaling pathway Source: ProtInc
  • membrane organization Source: Reactome
  • protein-containing complex assembly Source: ProtInc

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 2
Alternative name(s):
Partner of RalBP1
RalBP1-interacting protein 2
Gene namesi
Name:REPS2
Synonyms:POB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000169891.17
HGNCiHGNC:9963 REPS2
MIMi300317 gene
neXtProtiNX_Q8NFH8

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

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi9185
OpenTargetsiENSG00000169891
PharmGKBiPA34330

Polymorphism and mutation databases

BioMutaiREPS2
DMDMi34098575

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000738311 – 660RalBP1-associated Eps domain-containing protein 2Add BLAST660

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei254PhosphoserineCombined sources1
Modified residuei479PhosphothreonineCombined sources1
Modified residuei493PhosphoserineCombined sources1

Post-translational modificationi

EGF stimulates phosphorylation on Tyr-residues and induces complex formation with EGF receptor through an adapter protein such as GRB2.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8NFH8
PaxDbiQ8NFH8
PeptideAtlasiQ8NFH8
PRIDEiQ8NFH8

PTM databases

iPTMnetiQ8NFH8
PhosphoSitePlusiQ8NFH8

Expressioni

Tissue specificityi

Expressed at high levels in the cerebrum, cerebellum, lung, kidney, and testis. Weakly expressed in the kidney. Relatively highly expressed in androgen-dependent as compared to androgen-independent prostate cancer cell lines and xenografts. Isoform 2 is down-regulated during progression of prostate cancer.

Gene expression databases

BgeeiENSG00000169891
CleanExiHS_REPS2
GenevisibleiQ8NFH8 HS

Organism-specific databases

HPAiHPA000565
HPA026073

Interactioni

Subunit structurei

Interacts with ASAP1 and this complex can bind paxillin. May form a ternary complex with RALBP1 and ASAP1 (By similarity). Interacts with RALBP1 and GRB2. Binding to RALBP1 does not affect the Ral-binding activity of the latter. It can form a ternary complex with activated Ral and RALBP1. Binds EPN1.By similarity1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi114622, 22 interactors
IntActiQ8NFH8, 20 interactors
MINTiQ8NFH8
STRINGi9606.ENSP00000349824

Structurei

Secondary structure

1660
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi279 – 282Combined sources4
Helixi283 – 293Combined sources11
Beta strandi296 – 302Combined sources7
Helixi303 – 309Combined sources7
Beta strandi312 – 314Combined sources3
Helixi320 – 327Combined sources8
Beta strandi329 – 331Combined sources3
Beta strandi333 – 336Combined sources4
Helixi337 – 352Combined sources16

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IQ3NMR-A265-367[»]
ProteinModelPortaliQ8NFH8
SMRiQ8NFH8
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8NFH8

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 147EH 1PROSITE-ProRule annotationAdd BLAST114
Domaini282 – 373EH 2PROSITE-ProRule annotationAdd BLAST92
Domaini315 – 350EF-handPROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni514 – 660Interaction with RALBP1Add BLAST147
Regioni561 – 660Interaction with ASAP1By similarityAdd BLAST100

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili601 – 657Sequence analysisAdd BLAST57

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi3 – 76Ala-richAdd BLAST74
Compositional biasi477 – 524Pro-richAdd BLAST48

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG1955 Eukaryota
ENOG410XTBP LUCA
GeneTreeiENSGT00760000118985
HOGENOMiHOG000231382
HOVERGENiHBG056372
InParanoidiQ8NFH8
KOiK20068
OMAiRPENQAT
OrthoDBiEOG091G028Q
PhylomeDBiQ8NFH8
TreeFamiTF316546

Family and domain databases

InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR000261 EH_dom
PfamiView protein in Pfam
PF12763 EF-hand_4, 1 hit
SMARTiView protein in SMART
SM00027 EH, 1 hit
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

Isoform 1 (identifier: Q8NFH8-1) [UniParc]FASTAAdd to basket
Also known as: REPS2a, Long

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
MEAAAAAAAA AAAAAAAGGG CGSGPPPLLL SEGEQQCYSE LFARCAGAAG
60 70 80 90 100
GGPGSGPPEA ARVAPGTATA AAGPVADLFR ASQLPAETLH QITELCGAKR
110 120 130 140 150
VGYFGPTQFY IALKLIAAAQ SGLPVRIESI KCELPLPRFM MSKNDGEIRF
160 170 180 190 200
GNPAELHGTK VQIPYLTTEK NSFKRMDDED KQQETQSPTM SPLASPPSSP
210 220 230 240 250
PHYQRVPLSH GYSKLRSSAE QMHPAPYEAR QPLVQPEGSS SGGPGTKPLR
260 270 280 290 300
HQASLIRSFS VERELQDNSS YPDEPWRITE EQREYYVNQF RSLQPDPSSF
310 320 330 340 350
ISGSVAKNFF TKSKLSIPEL SYIWELSDAD CDGALTLPEF CAAFHLIVAR
360 370 380 390 400
KNGYPLPEGL PPTLQPEYLQ AAFPKPKWDC QLFDSYSESL PANQQPRDLN
410 420 430 440 450
RMEKTSVKDM ADLPVPNQDV TSDDKQALKS TINEALPKDV SEDPATPKDS
460 470 480 490 500
NSLKARPRSR SYSSTSIEEA MKRGEDPPTP PPRPQKTHSR ASSLDLNKVF
510 520 530 540 550
QPSVPATKSG LLPPPPALPP RPCPSQSEQV SEAELLPQLS RAPSQAAESS
560 570 580 590 600
PAKKDVLYSQ PPSKPIRRKF RPENQATENQ EPSTAASGPA SAATMKPHPT
610 620 630 640 650
VQKQSSKQKK AIQTAIRKNK EANAVLARLN SELQQQLKEV HQERIALENQ
660
LEQLRPVTVL
Length:660
Mass (Da):71,534
Last modified:August 15, 2003 - v2
Checksum:iAACB3B8B8A9C2E3A
GO
Isoform 2 (identifier: Q8NFH8-2) [UniParc]FASTAAdd to basket
Also known as: REPS2b, Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-139: Missing.

Show »
Length:521
Mass (Da):57,902
Checksum:iF5FCF51B56961026
GO
Isoform 3 (identifier: Q8NFH8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-139: Missing.
     182-182: Missing.

Show »
Length:520
Mass (Da):57,774
Checksum:iC5B4F557D58A444D
GO
Isoform 4 (identifier: Q8NFH8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     182-182: Missing.

Show »
Length:659
Mass (Da):71,405
Checksum:i527A658BDFB4582B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069419321S → C1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0079581 – 139Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST139
Alternative sequenceiVSP_040086182Missing in isoform 3 and isoform 4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF010233 mRNA Translation: AAC02901.1
AF511533 mRNA Translation: AAM43933.1
AF512951 mRNA Translation: AAM43953.1
AL732371, AL929302 Genomic DNA Translation: CAI40017.1
AL929302, AL732371 Genomic DNA Translation: CAI41286.1
AL929302, AL732371 Genomic DNA Translation: CAO03550.1
AL732371, AL929302 Genomic DNA Translation: CAO03570.1
CCDSiCCDS14180.2 [Q8NFH8-1]
CCDS43919.1 [Q8NFH8-4]
RefSeqiNP_001074444.1, NM_001080975.1 [Q8NFH8-4]
NP_004717.2, NM_004726.2 [Q8NFH8-1]
UniGeneiHs.186810

Genome annotation databases

EnsembliENST00000303843; ENSP00000306033; ENSG00000169891 [Q8NFH8-4]
ENST00000357277; ENSP00000349824; ENSG00000169891 [Q8NFH8-1]
GeneIDi9185
KEGGihsa:9185
UCSCiuc004cxv.1 human [Q8NFH8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiREPS2_HUMAN
AccessioniPrimary (citable) accession number: Q8NFH8
Secondary accession number(s): A6PWZ6
, O43428, Q5JNZ8, Q8NFI5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: August 15, 2003
Last modified: April 25, 2018
This is version 146 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health