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Protein

IQ motif and SEC7 domain-containing protein 1

Gene

IQSEC1

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

Functioni

Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:24058294). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin.3 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor
LigandLipid-binding

Names & Taxonomyi

Protein namesi
Recommended name:
IQ motif and SEC7 domain-containing protein 1
Alternative name(s):
ADP-ribosylation factors guanine nucleotide-exchange protein 100
ADP-ribosylation factors guanine nucleotide-exchange protein 2
Brefeldin-resistant Arf-GEF 2 protein1 Publication
Short name:
BRAG21 Publication
Gene namesi
Name:IQSEC1
Synonyms:ARFGEP100, BRAG2, KIAA0763
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000144711.13
HGNCiHGNC:29112 IQSEC1
MIMi610166 gene
neXtProtiNX_Q6DN90

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, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi620E → K: Abolishes guanosine nucleotide exchange factor activity. 1 Publication1

Organism-specific databases

DisGeNETi9922
OpenTargetsiENSG00000144711
PharmGKBiPA128394566

Polymorphism and mutation databases

BioMutaiIQSEC1
DMDMi74748429

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002456061 – 963IQ motif and SEC7 domain-containing protein 1Add BLAST963

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei89PhosphoserineCombined sources1
Modified residuei105PhosphoserineCombined sources1
Modified residuei107PhosphoserineCombined sources1
Modified residuei180PhosphoserineCombined sources1
Modified residuei249PhosphoserineBy similarity1
Modified residuei253PhosphoserineCombined sources1
Modified residuei512PhosphoserineCombined sources1
Modified residuei515PhosphoserineCombined sources1
Modified residuei892PhosphoserineCombined sources1
Modified residuei911PhosphotyrosineCombined sources1
Modified residuei924PhosphoserineCombined sources1
Modified residuei925PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6DN90
MaxQBiQ6DN90
PaxDbiQ6DN90
PeptideAtlasiQ6DN90
PRIDEiQ6DN90
ProteomicsDBi66252
66253 [Q6DN90-2]

PTM databases

iPTMnetiQ6DN90
PhosphoSitePlusiQ6DN90

Expressioni

Tissue specificityi

Expressed in brain, ovary, heart, lung, liver, kidney and leukocytes. Moderate expression was also detected in lung, skeletal muscle, placenta, small intestine, pancreas, spleen and testis.2 Publications

Gene expression databases

BgeeiENSG00000144711 Expressed in 229 organ(s), highest expression level in right frontal lobe
CleanExiHS_IQSEC1
ExpressionAtlasiQ6DN90 baseline and differential
GenevisibleiQ6DN90 HS

Organism-specific databases

HPAiHPA038143
HPA038144

Interactioni

Subunit structurei

Interacts with ARF1 and ARF6.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
GNAQP501482EBI-3044091,EBI-3909604

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115250, 29 interactors
IntActiQ6DN90, 20 interactors
MINTiQ6DN90
STRINGi9606.ENSP00000273221

Structurei

Secondary structure

1963
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ6DN90
SMRiQ6DN90
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini134 – 163IQPROSITE-ProRule annotationAdd BLAST30
Domaini517 – 710SEC7PROSITE-ProRule annotationAdd BLAST194
Domaini774 – 866PHAdd BLAST93

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili848 – 879Sequence analysisAdd BLAST32

Domaini

The PH domain mediates interaction with lipid membranes that contain phosphatidylinositol-4,5-bisphosphate, but does not bind membranes that lack phosphatidylinositol-4,5-bisphosphate.1 Publication

Sequence similaritiesi

Belongs to the BRAG family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0931 Eukaryota
COG5307 LUCA
GeneTreeiENSGT00760000119036
HOGENOMiHOG000113099
HOVERGENiHBG056324
InParanoidiQ6DN90
KOiK12495
PhylomeDBiQ6DN90
TreeFamiTF323811

Family and domain databases

CDDicd13318 PH_IQSEC, 1 hit
cd00171 Sec7, 1 hit
Gene3Di1.10.1000.11, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR000048 IQ_motif_EF-hand-BS
IPR030737 IQSEC1
IPR033742 IQSEC_PH
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR023394 Sec7_C_sf
IPR000904 Sec7_dom
IPR035999 Sec7_dom_sf
PANTHERiPTHR44233:SF3 PTHR44233:SF3, 1 hit
PfamiView protein in Pfam
PF16453 IQ_SEC7_PH, 1 hit
PF01369 Sec7, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00222 Sec7, 1 hit
SUPFAMiSSF48425 SSF48425, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 1 hit
PS50190 SEC7, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q6DN90-1) [UniParc]FASTAAdd to basket
Also known as: BRAG2b

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
MWCLHCNSER TQSLLELELD SGVEGEAPSS ETGTSLDSPS AYPQGPLVPG
60 70 80 90 100
SSLSPDHYEH TSVGAYGLYS GPPGQQQRTR RPKLQHSTSI LRKQAEEEAI
110 120 130 140 150
KRSRSLSESY ELSSDLQDKQ VEMLERKYGG RLVTRHAART IQTAFRQYQM
160 170 180 190 200
NKNFERLRSS MSENRMSRRI VLSNMRMQFS FEGPEKVHSS YFEGKQVSVT
210 220 230 240 250
NDGSQLGALV SPECGDLSEP TTLKSPAPSS DFADAITELE DAFSRQVKSL
260 270 280 290 300
AESIDDALNC RSLHTEEAPA LDAARARDTE PQTALHGMDH RKLDEMTASY
310 320 330 340 350
SDVTLYIDEE ELSPPLPLSQ AGDRPSSTES DLRLRAGGAA PDYWALAHKE
360 370 380 390 400
DKADTDTSCR STPSLERQEQ RLRVEHLPLL TIEPPSDSSV DLSDRSERGS
410 420 430 440 450
LKRQSAYERS LGGQQGSPKH GPHSGAPKSL PREEPELRPR PPRPLDSHLA
460 470 480 490 500
INGSANRQSK SESDYSDGDN DSINSTSNSN DTINCSSESS SRDSLREQTL
510 520 530 540 550
SKQTYHKEAR NSWDSPAFSN DVIRKRHYRI GLNLFNKKPE KGVQYLIERG
560 570 580 590 600
FVPDTPVGVA HFLLQRKGLS RQMIGEFLGN RQKQFNRDVL DCVVDEMDFS
610 620 630 640 650
TMELDEALRK FQAHIRVQGE AQKVERLIEA FSQRYCICNP GVVRQFRNPD
660 670 680 690 700
TIFILAFAII LLNTDMYSPN VKPERKMKLE DFIKNLRGVD DGEDIPREML
710 720 730 740 750
MGIYERIRKR ELKTNEDHVS QVQKVEKLIV GKKPIGSLHP GLGCVLSLPH
760 770 780 790 800
RRLVCYCRLF EVPDPNKPQK LGLHQREIFL FNDLLVVTKI FQKKKNSVTY
810 820 830 840 850
SFRQSFSLYG MQVLLFENQY YPNGIRLTSS VPGADIKVLI NFNAPNPQDR
860 870 880 890 900
KKFTDDLRES IAEVQEMEKH RIESELEKQK GVVRPSMSQC SSLKKESGNG
910 920 930 940 950
TLSRACLDDS YASGEGLKRS ALSSSLRDLS EAGKRGRRSS AGSLESNVEF
960
QPFEPLQPSV LCS
Length:963
Mass (Da):108,314
Last modified:August 16, 2004 - v1
Checksum:i5B31F9918F9CFF11
GO
Isoform 2 (identifier: Q6DN90-2) [UniParc]FASTAAdd to basket
Also known as: BRAG2a

The sequence of this isoform differs from the canonical sequence as follows:
     1-122: Missing.

Note: No experimental confirmation available.
Show »
Length:841
Mass (Da):94,914
Checksum:i504A8DDC71EB8B71
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WWK8A0A087WWK8_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC1
1,114Annotation score:
A0A0C4DGT3A0A0C4DGT3_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC1
814Annotation score:
A0A2R8Y7T6A0A2R8Y7T6_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC1
964Annotation score:
A0A2R8Y695A0A2R8Y695_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC1
779Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti934 – 936KRG → VHH (PubMed:15489334).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051927640P → S. Corresponds to variant dbSNP:rs35319679Ensembl.1
Natural variantiVAR_027004882V → I. Corresponds to variant dbSNP:rs17541405Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0197581 – 122Missing in isoform 2. 2 PublicationsAdd BLAST122

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY653734 mRNA Translation: AAT72063.1
AB018306 mRNA Translation: BAA34483.2
BC010267 mRNA Translation: AAH10267.1
CCDSiCCDS33703.1 [Q6DN90-1]
RefSeqiNP_001127854.1, NM_001134382.2
NP_001317548.1, NM_001330619.1
NP_055684.3, NM_014869.6 [Q6DN90-1]
XP_011532617.1, XM_011534315.2
UniGeneiHs.475506

Genome annotation databases

EnsembliENST00000273221; ENSP00000273221; ENSG00000144711 [Q6DN90-1]
GeneIDi9922
KEGGihsa:9922
UCSCiuc003bxt.4 human [Q6DN90-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiIQEC1_HUMAN
AccessioniPrimary (citable) accession number: Q6DN90
Secondary accession number(s): O94863, Q96D85
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: August 16, 2004
Last modified: September 12, 2018
This is version 141 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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