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Protein

Ras and EF-hand domain-containing protein

Gene

RASEF

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

Functioni

Binds predominantly GDP, and also GTP.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi21 – 321Add BLAST12
Calcium bindingi55 – 662Add BLAST12
Nucleotide bindingi548 – 555GTPCurated8
Nucleotide bindingi596 – 600GTPCurated5
Nucleotide bindingi654 – 657GTPBy similarity4

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • GDP binding Source: UniProtKB
  • GTPase activity Source: InterPro
  • GTP binding Source: UniProtKB
  • identical protein binding Source: UniProtKB

GO - Biological processi

Keywordsi

LigandCalcium, GTP-binding, Metal-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Ras and EF-hand domain-containing protein
Alternative name(s):
Ras-related protein Rab-45
Gene namesi
Name:RASEF
Synonyms:RAB45
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000165105.9
HGNCiHGNC:26464 RASEF
MIMi611344 gene
neXtProtiNX_Q8IZ41

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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi555S → N: Impairs nucleotide binding and perinuclear localization. 1 Publication1
Mutagenesisi600Q → L: Favors GTP association. 1 Publication1

Organism-specific databases

DisGeNETi158158
OpenTargetsiENSG00000165105
PharmGKBiPA134867201

Polymorphism and mutation databases

DMDMi74750780

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002995771 – 740Ras and EF-hand domain-containing proteinAdd BLAST740

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei377PhosphoserineBy similarity1
Modified residuei383PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8IZ41
MaxQBiQ8IZ41
PaxDbiQ8IZ41
PeptideAtlasiQ8IZ41
PRIDEiQ8IZ41
ProteomicsDBi71277
71278 [Q8IZ41-2]
TopDownProteomicsiQ8IZ41-2 [Q8IZ41-2]

PTM databases

iPTMnetiQ8IZ41
PhosphoSitePlusiQ8IZ41

Expressioni

Tissue specificityi

Down-regulated in cutaneous melanoma cells but not in breast cancer cells.1 Publication

Gene expression databases

BgeeiENSG00000165105 Expressed in 131 organ(s), highest expression level in pancreas
CleanExiHS_RASEF
GenevisibleiQ8IZ41 HS

Organism-specific databases

HPAiHPA021431

Interactioni

Subunit structurei

Homodimer.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi127651, 19 interactors
STRINGi9606.ENSP00000365630

Structurei

Secondary structure

1740
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8IZ41
SMRiQ8IZ41
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8IZ41

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini8 – 42EF-hand 1PROSITE-ProRule annotationAdd BLAST35
Domaini42 – 77EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili175 – 356Sequence analysisAdd BLAST182

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0078 Eukaryota
ENOG410XPUI LUCA
GeneTreeiENSGT00890000139330
HOGENOMiHOG000008699
HOVERGENiHBG057757
InParanoidiQ8IZ41
KOiK17199
OMAiIRDEETY
OrthoDBiEOG091G0CBJ
PhylomeDBiQ8IZ41
TreeFamiTF313106

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
PF00071 Ras, 1 hit
SMARTiView protein in SMART
SM00054 EFh, 2 hits
SUPFAMiSSF47473 SSF47473, 1 hit
SSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 2 hits
PS51419 RAB, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8IZ41-1) [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
MEADGDGEEL ARLRSVFAAC DANRSGRLER EEFRALCTEL RVRPADAEAV
60 70 80 90 100
FQRLDADRDG AITFQEFARG FLGSLRGGRR RDWGPLDPAP AVSEAGPETH
110 120 130 140 150
DSEEDEGDED AAAALATSCG PASPGRAWQD FQARLGDEAK FIPREEQVST
160 170 180 190 200
LYQNINLVEP RLIQPYEHVI KNFIREIRLQ STEMENLAIA VKRAQDKAAM
210 220 230 240 250
QLSELEEEMD QRIQAAEHKT RKDEKRKAEE ALSDLRRQYE TEVGDLQVTI
260 270 280 290 300
KKLRKLEEQS KRVSQKEDVA ALKKQIYDLS MENQKVKKDL LEAQTNIAFL
310 320 330 340 350
QSELDALKSD YADQSLNTER DLEIIRAYTE DRNSLERQIE ILQTANRKLH
360 370 380 390 400
DSNDGLRSAL ENSYSKFNRS LHINNISPGN TISRSSPKFI GHSPQPLGYD
410 420 430 440 450
RSSRSSYVDE DCDSLALCDP LQRTNCEVDS LPESCFDSGL STLRDPNEYD
460 470 480 490 500
SEVEYKHQRG FQRSHGVQES FGGDASDTDV PDIRDEETFG LEDVASVLDW
510 520 530 540 550
KPQGSVSEGS IVSSSRKPIS ALSPQTDLVD DNAKSFSSQK AYKIVLAGDA
560 570 580 590 600
AVGKSSFLMR LCKNEFRENI SATLGVDFQM KTLIVDGERT VLQLWDTAGQ
610 620 630 640 650
ERFRSIAKSY FRKADGVLLL YDVTCEKSFL NIREWVDMIE DAAHETVPIM
660 670 680 690 700
LVGNKADIRD TAATEGQKCV PGHFGEKLAM TYGALFCETS AKDGSNIVEA
710 720 730 740
VLHLAREVKK RTDKDDSRSI TNLTGTNSKK SPQMKNCCNG
Length:740
Mass (Da):82,879
Last modified:March 1, 2003 - v1
Checksum:i89AFCF4C159760F0
GO
Isoform 2 (identifier: Q8IZ41-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     145-189: EEQVSTLYQN...QSTEMENLAI → FGYTISKPAF...IEEGGAKMAE
     190-740: Missing.

Note: No experimental confirmation available.
Show »
Length:189
Mass (Da):20,736
Checksum:i472825570664F33D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034858262R → C1 PublicationCorresponds to variant dbSNP:rs4146960Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027766145 – 189EEQVS…ENLAI → FGYTISKPAFVFVRHLITLC ALSWAKKEGRETLWTIEEGG AKMAE in isoform 2. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_027767190 – 740Missing in isoform 2. 1 PublicationAdd BLAST551

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056176 mRNA No translation available.
AL499602 Genomic DNA No translation available.
CH471089 Genomic DNA Translation: EAW62643.1
BC023566 mRNA Translation: AAH23566.1
CCDSiCCDS6662.1 [Q8IZ41-1]
RefSeqiNP_689786.2, NM_152573.3 [Q8IZ41-1]
UniGeneiHs.129136
Hs.677846

Genome annotation databases

EnsembliENST00000340717; ENSP00000345651; ENSG00000165105 [Q8IZ41-2]
ENST00000376447; ENSP00000365630; ENSG00000165105 [Q8IZ41-1]
GeneIDi158158
KEGGihsa:158158
UCSCiuc004amo.2 human [Q8IZ41-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056176 mRNA No translation available.
AL499602 Genomic DNA No translation available.
CH471089 Genomic DNA Translation: EAW62643.1
BC023566 mRNA Translation: AAH23566.1
CCDSiCCDS6662.1 [Q8IZ41-1]
RefSeqiNP_689786.2, NM_152573.3 [Q8IZ41-1]
UniGeneiHs.129136
Hs.677846

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2P5SX-ray2.15A/B533-712[»]
2PMYX-ray2.30A/B3-75[»]
ProteinModelPortaliQ8IZ41
SMRiQ8IZ41
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127651, 19 interactors
STRINGi9606.ENSP00000365630

PTM databases

iPTMnetiQ8IZ41
PhosphoSitePlusiQ8IZ41

Polymorphism and mutation databases

DMDMi74750780

Proteomic databases

EPDiQ8IZ41
MaxQBiQ8IZ41
PaxDbiQ8IZ41
PeptideAtlasiQ8IZ41
PRIDEiQ8IZ41
ProteomicsDBi71277
71278 [Q8IZ41-2]
TopDownProteomicsiQ8IZ41-2 [Q8IZ41-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340717; ENSP00000345651; ENSG00000165105 [Q8IZ41-2]
ENST00000376447; ENSP00000365630; ENSG00000165105 [Q8IZ41-1]
GeneIDi158158
KEGGihsa:158158
UCSCiuc004amo.2 human [Q8IZ41-1]

Organism-specific databases

CTDi158158
DisGeNETi158158
EuPathDBiHostDB:ENSG00000165105.9
GeneCardsiRASEF
HGNCiHGNC:26464 RASEF
HPAiHPA021431
MIMi611344 gene
neXtProtiNX_Q8IZ41
OpenTargetsiENSG00000165105
PharmGKBiPA134867201
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0078 Eukaryota
ENOG410XPUI LUCA
GeneTreeiENSGT00890000139330
HOGENOMiHOG000008699
HOVERGENiHBG057757
InParanoidiQ8IZ41
KOiK17199
OMAiIRDEETY
OrthoDBiEOG091G0CBJ
PhylomeDBiQ8IZ41
TreeFamiTF313106

Miscellaneous databases

ChiTaRSiRASEF human
EvolutionaryTraceiQ8IZ41
GenomeRNAii158158
PROiPR:Q8IZ41
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165105 Expressed in 131 organ(s), highest expression level in pancreas
CleanExiHS_RASEF
GenevisibleiQ8IZ41 HS

Family and domain databases

CDDicd00051 EFh, 1 hit
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
PF00071 Ras, 1 hit
SMARTiView protein in SMART
SM00054 EFh, 2 hits
SUPFAMiSSF47473 SSF47473, 1 hit
SSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 2 hits
PS51419 RAB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRASEF_HUMAN
AccessioniPrimary (citable) accession number: Q8IZ41
Secondary accession number(s): A6NC29, Q96N04
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 151 of the entry and version 1 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

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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