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Protein

Peflin

Gene

PEF1

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

  • calcium-dependent protein binding Source: UniProtKB
  • calcium ion binding Source: ProtInc
  • molecular adaptor activity Source: UniProtKB
  • protein dimerization activity Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • RNA binding Source: UniProtKB

GO - Biological processi

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

EuPathDBiHostDB:ENSG00000162517.12
HGNCiHGNC:30009 PEF1
MIMi610033 gene
neXtProtiNX_Q9UBV8

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, 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
ProteomicsDBi84082

2D gel databases

REPRODUCTION-2DPAGEiIPI00018235

PTM databases

iPTMnetiQ9UBV8
PhosphoSitePlusiQ9UBV8

Expressioni

Gene expression databases

BgeeiENSG00000162517 Expressed in 226 organ(s), highest expression level in right lobe of thyroid gland
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi139275, 39 interactors
CORUMiQ9UBV8
IntActiQ9UBV8, 47 interactors
MINTiQ9UBV8
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

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

Similar proteinsi

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, 39 interactors
CORUMiQ9UBV8
IntActiQ9UBV8, 47 interactors
MINTiQ9UBV8
STRINGi9606.ENSP00000362807

PTM databases

iPTMnetiQ9UBV8
PhosphoSitePlusiQ9UBV8

Polymorphism and mutation databases

BioMutaiPEF1
DMDMi74761895

2D gel databases

REPRODUCTION-2DPAGEiIPI00018235

Proteomic databases

EPDiQ9UBV8
MaxQBiQ9UBV8
PaxDbiQ9UBV8
PeptideAtlasiQ9UBV8
PRIDEiQ9UBV8
ProteomicsDBi84082

Protocols and materials databases

DNASUi553115
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi553115
EuPathDBiHostDB:ENSG00000162517.12
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

ChiTaRSiPEF1 human
GeneWikiiPEF1
GenomeRNAii553115
PROiPR:Q9UBV8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162517 Expressed in 226 organ(s), highest expression level in right lobe of thyroid gland
CleanExiHS_PEF1
GenevisibleiQ9UBV8 HS

Family and domain databases

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: November 7, 2018
This is version 159 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
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Main funding by: National Institutes of Health

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