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Protein

Ras and EF-hand domain-containing protein

Gene

RASEF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Calcium, 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

HGNCiHGNC:26464. RASEF.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

MaxQBiQ8IZ41.
PaxDbiQ8IZ41.
PeptideAtlasiQ8IZ41.
PRIDEiQ8IZ41.
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.
CleanExiHS_RASEF.
GenevisibleiQ8IZ41. HS.

Organism-specific databases

HPAiHPA021431.
HPA051606.

Interactioni

Subunit structurei

Homodimer.2 Publications

Protein-protein interaction databases

BioGridi127651. 2 interactors.
STRINGi9606.ENSP00000365630.

Structurei

Secondary structure

1740
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi4 – 20Combined sources17
Beta strandi25 – 29Combined sources5
Helixi30 – 39Combined sources10
Helixi44 – 54Combined sources11
Beta strandi59 – 62Combined sources4
Helixi64 – 67Combined sources4
Helixi69 – 73Combined sources5
Beta strandi542 – 549Combined sources8
Helixi554 – 563Combined sources10
Beta strandi579 – 585Combined sources7
Beta strandi588 – 596Combined sources9
Helixi604 – 613Combined sources10
Beta strandi615 – 622Combined sources8
Helixi626 – 630Combined sources5
Helixi632 – 642Combined sources11
Beta strandi649 – 654Combined sources6
Helixi656 – 658Combined sources3
Helixi659 – 664Combined sources6
Helixi672 – 682Combined sources11
Beta strandi685 – 688Combined sources4
Turni691 – 693Combined sources3
Helixi697 – 708Combined sources12

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...

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
Contains 2 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0078. Eukaryota.
ENOG410XPUI. LUCA.
GeneTreeiENSGT00860000133675.
HOGENOMiHOG000008699.
HOVERGENiHBG057757.
InParanoidiQ8IZ41.
KOiK17199.
OMAiKHQRGFQ.
OrthoDBiEOG091G0CBJ.
PhylomeDBiQ8IZ41.
TreeFamiTF313106.

Family and domain databases

CDDicd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR011992. 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.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
PF00071. Ras. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.
PS51419. RAB. 1 hit.
[Graphical view]

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 → C.1 PublicationCorresponds to variant rs4146960dbSNPEnsembl.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. Translation: CAH70678.1.
AL499602 Genomic DNA. Translation: CAH70679.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056176 mRNA. No translation available.
AL499602 Genomic DNA. Translation: CAH70678.1.
AL499602 Genomic DNA. Translation: CAH70679.1.
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. 2 interactors.
STRINGi9606.ENSP00000365630.

PTM databases

iPTMnetiQ8IZ41.
PhosphoSitePlusiQ8IZ41.

Polymorphism and mutation databases

DMDMi74750780.

Proteomic databases

MaxQBiQ8IZ41.
PaxDbiQ8IZ41.
PeptideAtlasiQ8IZ41.
PRIDEiQ8IZ41.
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.
GeneCardsiRASEF.
HGNCiHGNC:26464. RASEF.
HPAiHPA021431.
HPA051606.
MIMi611344. gene.
neXtProtiNX_Q8IZ41.
OpenTargetsiENSG00000165105.
PharmGKBiPA134867201.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0078. Eukaryota.
ENOG410XPUI. LUCA.
GeneTreeiENSGT00860000133675.
HOGENOMiHOG000008699.
HOVERGENiHBG057757.
InParanoidiQ8IZ41.
KOiK17199.
OMAiKHQRGFQ.
OrthoDBiEOG091G0CBJ.
PhylomeDBiQ8IZ41.
TreeFamiTF313106.

Miscellaneous databases

ChiTaRSiRASEF. human.
EvolutionaryTraceiQ8IZ41.
GenomeRNAii158158.
PROiQ8IZ41.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165105.
CleanExiHS_RASEF.
GenevisibleiQ8IZ41. HS.

Family and domain databases

CDDicd00051. EFh. 1 hit.
Gene3Di1.10.238.10. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR011992. 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.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
PF00071. Ras. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 2 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.
PS51419. RAB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRASEF_HUMAN
AccessioniPrimary (citable) accession number: Q8IZ41
Secondary accession number(s): A6NC29, Q96N04
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: March 1, 2003
Last modified: November 30, 2016
This is version 135 of the entry and version 1 of the sequence. [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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.