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Protein

Peflin

Gene

PEF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Calcium-binding protein that acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium. Together with PDCD6, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in endoplasmic reticulum (ER)-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PDCD6 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Its role in the heterodimer formed with PDCD6 is however unclear: some evidences show that PEF1 and PDCD6 work together and promote association between PDCD6 and SEC31 in presence of calcium (PubMed:27716508). Other reports show that PEF1 dissociates from PDCD6 in presence of calcium, and may act as a negative regulator of PDCD6 (PubMed:11278427). Also acts as a negative regulator of ER-Golgi transport; possibly by inhibiting interaction between PDCD6 and SEC31 (By similarity).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi127 – 1381PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi194 – 2052PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • binding, bridging Source: UniProtKB
  • calcium-dependent cysteine-type endopeptidase activity Source: GO_Central
  • calcium-dependent protein binding Source: UniProtKB
  • calcium ion binding Source: ProtInc
  • protein dimerization activity Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • RNA binding Source: UniProtKB

GO - Biological processi

  • COPII vesicle coating Source: UniProtKB
  • ER to Golgi vesicle-mediated transport Source: UniProtKB
  • neural crest cell development Source: UniProtKB
  • neural crest formation Source: UniProtKB
  • positive regulation of protein monoubiquitination Source: UniProtKB
  • proteolysis Source: GO_Central
  • response to calcium ion Source: UniProtKB

Keywordsi

LigandCalcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Peflin1 Publication
Alternative name(s):
PEF protein with a long N-terminal hydrophobic domain1 Publication
Penta-EF hand domain-containing protein 1Imported
Gene namesi
Name:PEF1Imported
Synonyms:ABP32
ORF Names:UNQ1845/PRO35731 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:30009. PEF1.

Subcellular locationi

GO - Cellular componenti

  • COPII vesicle coat Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • Golgi membrane Source: GOC

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi137K → R: Decreased ubiquitination by the BCR(KLHL12) E3 ubiquitin ligase complex. 1 Publication1
Mutagenesisi165K → R: Does not affect ubiquitination by the BCR(KLHL12) E3 ubiquitin ligase complex. 1 Publication1
Mutagenesisi167K → R: Does not affect ubiquitination by the BCR(KLHL12) E3 ubiquitin ligase complex. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000162517.
PharmGKBiPA142671184.

Polymorphism and mutation databases

BioMutaiPEF1.
DMDMi74761895.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002470451 – 284PeflinAdd BLAST284

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki137Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Post-translational modificationi

Ubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex.1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ9UBV8.
MaxQBiQ9UBV8.
PaxDbiQ9UBV8.
PeptideAtlasiQ9UBV8.
PRIDEiQ9UBV8.

2D gel databases

REPRODUCTION-2DPAGEiIPI00018235.

PTM databases

iPTMnetiQ9UBV8.
PhosphoSitePlusiQ9UBV8.

Expressioni

Gene expression databases

BgeeiENSG00000162517.
CleanExiHS_PEF1.
GenevisibleiQ9UBV8. HS.

Organism-specific databases

HPAiHPA061608.

Interactioni

Subunit structurei

Heterodimer; heterodimerizes (via the EF-hand 5) with PDCD6 (PubMed:11278427, PubMed:11883899, PubMed:27716508). Dissociates from PDCD6 in presence of calcium (PubMed:11278427).3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • calcium-dependent protein binding Source: UniProtKB
  • protein dimerization activity Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi139275. 28 interactors.
IntActiQ9UBV8. 49 interactors.
MINTiMINT-5003645.
STRINGi9606.ENSP00000362807.

Structurei

3D structure databases

ProteinModelPortaliQ9UBV8.
SMRiQ9UBV8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati21 – 291Curated9
Repeati31 – 392Curated9
Repeati41 – 493Curated9
Repeati50 – 584Curated9
Repeati59 – 675Curated9
Repeati76 – 846Curated9
Repeati85 – 927Curated8
Repeati93 – 1008Curated8
Repeati101 – 1099Curated9
Domaini114 – 149EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini155 – 183EF-hand 2PROSITE-ProRule annotationAdd BLAST29
Domaini181 – 216EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini217 – 253EF-hand 4PROSITE-ProRule annotationAdd BLAST37
Domaini254 – 283EF-hand 5PROSITE-ProRule annotationAdd BLAST30

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni21 – 1099 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-PCuratedAdd BLAST89
Regioni204 – 284Required for interaction with PDCD61 PublicationAdd BLAST81

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0037. Eukaryota.
ENOG410YKQK. LUCA.
GeneTreeiENSGT00620000087734.
HOGENOMiHOG000231983.
HOVERGENiHBG004492.
InParanoidiQ9UBV8.
OMAiPPQNYGF.
OrthoDBiEOG091G0ISY.
PhylomeDBiQ9UBV8.
TreeFamiTF314682.

Family and domain databases

CDDicd00051. EFh. 2 hits.
InterProiView protein in InterPro
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
PfamiView protein in Pfam
PF13405. EF-hand_6. 1 hit.
PF13499. EF-hand_7. 1 hit.
SMARTiView protein in SMART
SM00054. EFh. 3 hits.
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiView protein in PROSITE
PS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.

Sequencei

Sequence statusi: Complete.

Q9UBV8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASYPYRQGC PGAAGQAPGA PPGSYYPGPP NSGGQYGSGL PPGGGYGGPA
60 70 80 90 100
PGGPYGPPAG GGPYGHPNPG MFPSGTPGGP YGGAAPGGPY GQPPPSSYGA
110 120 130 140 150
QQPGLYGQGG APPNVDPEAY SWFQSVDSDH SGYISMKELK QALVNCNWSS
160 170 180 190 200
FNDETCLMMI NMFDKTKSGR IDVYGFSALW KFIQQWKNLF QQYDRDRSGS
210 220 230 240 250
ISYTELQQAL SQMGYNLSPQ FTQLLVSRYC PRSANPAMQL DRFIQVCTQL
260 270 280
QVLTEAFREK DTAVQGNIRL SFEDFVTMTA SRML
Length:284
Mass (Da):30,381
Last modified:May 1, 2000 - v1
Checksum:i2E9AA5750CB7A68A
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB026628 mRNA. Translation: BAA85163.1.
AB018357 mRNA. Translation: BAA84922.1.
AY359011 mRNA. Translation: AAQ89370.1.
AK001420 mRNA. Translation: BAA91680.1.
CR542139 mRNA. Translation: CAG46936.1.
BC002773 mRNA. Translation: AAH02773.1.
BC012561 mRNA. Translation: AAH12561.1.
CCDSiCCDS345.1.
RefSeqiNP_036524.1. NM_012392.3.
UniGeneiHs.470417.

Genome annotation databases

EnsembliENST00000373703; ENSP00000362807; ENSG00000162517.
GeneIDi553115.
KEGGihsa:553115.
UCSCiuc001bth.3. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB026628 mRNA. Translation: BAA85163.1.
AB018357 mRNA. Translation: BAA84922.1.
AY359011 mRNA. Translation: AAQ89370.1.
AK001420 mRNA. Translation: BAA91680.1.
CR542139 mRNA. Translation: CAG46936.1.
BC002773 mRNA. Translation: AAH02773.1.
BC012561 mRNA. Translation: AAH12561.1.
CCDSiCCDS345.1.
RefSeqiNP_036524.1. NM_012392.3.
UniGeneiHs.470417.

3D structure databases

ProteinModelPortaliQ9UBV8.
SMRiQ9UBV8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi139275. 28 interactors.
IntActiQ9UBV8. 49 interactors.
MINTiMINT-5003645.
STRINGi9606.ENSP00000362807.

PTM databases

iPTMnetiQ9UBV8.
PhosphoSitePlusiQ9UBV8.

Polymorphism and mutation databases

BioMutaiPEF1.
DMDMi74761895.

2D gel databases

REPRODUCTION-2DPAGEiIPI00018235.

Proteomic databases

EPDiQ9UBV8.
MaxQBiQ9UBV8.
PaxDbiQ9UBV8.
PeptideAtlasiQ9UBV8.
PRIDEiQ9UBV8.

Protocols and materials databases

DNASUi553115.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373703; ENSP00000362807; ENSG00000162517.
GeneIDi553115.
KEGGihsa:553115.
UCSCiuc001bth.3. human.

Organism-specific databases

CTDi553115.
GeneCardsiPEF1.
HGNCiHGNC:30009. PEF1.
HPAiHPA061608.
MIMi610033. gene.
neXtProtiNX_Q9UBV8.
OpenTargetsiENSG00000162517.
PharmGKBiPA142671184.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0037. Eukaryota.
ENOG410YKQK. LUCA.
GeneTreeiENSGT00620000087734.
HOGENOMiHOG000231983.
HOVERGENiHBG004492.
InParanoidiQ9UBV8.
OMAiPPQNYGF.
OrthoDBiEOG091G0ISY.
PhylomeDBiQ9UBV8.
TreeFamiTF314682.

Miscellaneous databases

GeneWikiiPEF1.
GenomeRNAii553115.
PROiPR:Q9UBV8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162517.
CleanExiHS_PEF1.
GenevisibleiQ9UBV8. HS.

Family and domain databases

CDDicd00051. EFh. 2 hits.
InterProiView protein in InterPro
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
PfamiView protein in Pfam
PF13405. EF-hand_6. 1 hit.
PF13499. EF-hand_7. 1 hit.
SMARTiView protein in SMART
SM00054. EFh. 3 hits.
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiView protein in PROSITE
PS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiPEF1_HUMAN
AccessioniPrimary (citable) accession number: Q9UBV8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: May 1, 2000
Last modified: June 7, 2017
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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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.