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Protein

IQ motif and SEC7 domain-containing protein 2

Gene

IQSEC2

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

Functioni

Is a guanine nucleotide exchange factor for the ARF GTP-binding proteins.1 Publication

GO - Molecular functioni

  • ARF guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
IQ motif and SEC7 domain-containing protein 2
Gene namesi
Name:IQSEC2
Synonyms:KIAA0522
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000124313.12
HGNCiHGNC:29059 IQSEC2
MIMi300522 gene
neXtProtiNX_Q5JU85

Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked 1 (MRX1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
See also OMIM:309530
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063742359R → C in MRX1. 1 Publication1
Natural variantiVAR_063743758R → Q in MRX1. 1 Publication1
Natural variantiVAR_078260789A → V in MRX1; decreased guanine nucleotide exchange factor activity. 1 Publication1
Natural variantiVAR_063744801Q → P in MRX1. 1 Publication1
Natural variantiVAR_063745863R → W in MRX1. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi23096
MalaCardsiIQSEC2
MIMi309530 phenotype
OpenTargetsiENSG00000124313
Orphaneti397933 Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
777 X-linked non-syndromic intellectual disability
PharmGKBiPA134870898

Polymorphism and mutation databases

BioMutaiIQSEC2
DMDMi74742276

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002456081 – 1488IQ motif and SEC7 domain-containing protein 2Add BLAST1488

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei82PhosphoserineBy similarity1
Modified residuei228PhosphoserineBy similarity1
Modified residuei344PhosphoserineCombined sources1
Modified residuei393PhosphoserineCombined sources1
Modified residuei412PhosphoserineCombined sources1
Modified residuei501PhosphoserineBy similarity1
Modified residuei528PhosphoserineBy similarity1
Modified residuei607PhosphoserineBy similarity1
Modified residuei627PhosphoserineBy similarity1
Modified residuei741PhosphoserineBy similarity1
Modified residuei744PhosphoserineBy similarity1
Modified residuei1107PhosphoserineCombined sources1
Modified residuei1129PhosphotyrosineBy similarity1
Modified residuei1143PhosphoserineCombined sources1
Modified residuei1158PhosphoserineBy similarity1
Modified residuei1161PhosphoserineBy similarity1
Modified residuei1172PhosphoserineBy similarity1
Modified residuei1173PhosphoserineBy similarity1
Modified residuei1345Omega-N-methylarginineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ5JU85
MaxQBiQ5JU85
PaxDbiQ5JU85
PeptideAtlasiQ5JU85
PRIDEiQ5JU85

PTM databases

iPTMnetiQ5JU85
PhosphoSitePlusiQ5JU85

Expressioni

Tissue specificityi

Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary, prostate and liver.1 Publication

Gene expression databases

BgeeiENSG00000124313
CleanExiHS_IQSEC2
ExpressionAtlasiQ5JU85 baseline and differential
GenevisibleiQ5JU85 HS

Organism-specific databases

HPAiHPA003973

Interactioni

GO - Molecular functioni

  • ARF guanyl-nucleotide exchange factor activity Source: UniProtKB

Protein-protein interaction databases

BioGridi116724, 8 interactors
DIPiDIP-59490N
IntActiQ5JU85, 3 interactors
STRINGi9606.ENSP00000379712

Structurei

Secondary structure

11488
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi750 – 766Combined sources17
Helixi768 – 777Combined sources10
Helixi785 – 794Combined sources10
Helixi800 – 807Combined sources8
Helixi813 – 824Combined sources12
Helixi833 – 843Combined sources11
Beta strandi847 – 849Combined sources3
Helixi850 – 867Combined sources18
Helixi869 – 873Combined sources5
Helixi879 – 896Combined sources18
Helixi902 – 904Combined sources3
Helixi908 – 914Combined sources7
Turni915 – 918Combined sources4
Helixi926 – 938Combined sources13
Helixi948 – 957Combined sources10
Beta strandi958 – 961Combined sources4
Beta strandi972 – 980Combined sources9
Turni990 – 993Combined sources4
Beta strandi994 – 1000Combined sources7
Beta strandi1003 – 1009Combined sources7
Beta strandi1019 – 1026Combined sources8
Beta strandi1030 – 1035Combined sources6
Beta strandi1041 – 1048Combined sources8
Beta strandi1057 – 1062Combined sources6
Helixi1066 – 1092Combined sources27

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6FAEX-ray2.35A729-1099[»]
ProteinModelPortaliQ5JU85
SMRiQ5JU85
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini347 – 376IQPROSITE-ProRule annotationAdd BLAST30
Domaini746 – 939SEC7PROSITE-ProRule annotationAdd BLAST194

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili23 – 74Sequence analysisAdd BLAST52

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi525 – 666Pro-richPROSITE-ProRule annotationAdd BLAST142
Compositional biasi1174 – 1481Pro-richPROSITE-ProRule annotationAdd BLAST308
Compositional biasi1239 – 1251His-richPROSITE-ProRule annotationAdd BLAST13

Sequence similaritiesi

Belongs to the BRAG family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0931 Eukaryota
COG5307 LUCA
GeneTreeiENSGT00760000119036
HOGENOMiHOG000113099
HOVERGENiHBG056324
InParanoidiQ5JU85
KOiK12495
OMAiDGAYQNR
OrthoDBiEOG091G05PW
PhylomeDBiQ5JU85
TreeFamiTF323811

Family and domain databases

CDDicd13318 PH_IQSEC, 1 hit
Gene3Di1.10.1000.11, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR000048 IQ_motif_EF-hand-BS
IPR033742 IQSEC_PH
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR023394 Sec7_C_sf
IPR000904 Sec7_dom
IPR035999 Sec7_dom_sf
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

Isoform 1 (identifier: Q5JU85-2) [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
MEAGSGPPGG PGSESPNRAV EYLLELNNII ESQQQLLETQ RRRIEELEGQ
60 70 80 90 100
LDQLTQENRD LREESQLHRG ELHRDPHGAR DSPGRESQYQ NLRETQFHHR
110 120 130 140 150
ELRESQFHQA ARDVGYPNRE GAYQNREAVY RDKERDASYP LQDTTGYTAR
160 170 180 190 200
ERDVAQCHLH HENPALGRER GGREAGPAHP GREKEAGYSA AVGVGPRPPR
210 220 230 240 250
ERGQLSRGAS RSSSPGAGGG HSTSTSTSPA TTLQRKSDGE NSRTVSVEGD
260 270 280 290 300
APGSDLSTAV DSPGSQPPYR LSQLPPSSSH MGGPPAGVGL PWAQRARLQP
310 320 330 340 350
ASVALRKQEE EEIKRSKALS DSYELSTDLQ DKKVEMLERK YGGSFLSRRA
360 370 380 390 400
ARTIQTAFRQ YRMNKNFERL RSSASESRMS RRIILSNMRM QFSFEEYEKA
410 420 430 440 450
QNPAYFEGKP ASLDEGAMAG ARSHRLERGL PYGGSCGGGI DGGGSSVTTS
460 470 480 490 500
GEFSNDITEL EDSFSKQVKS LAESIDEALN CHPSGPMSEE PGSAQLEKRE
510 520 530 540 550
SKEQQEDSSA TSFSDLPLYL DDTVPQQSPE RLPSTEPPPQ GRPEFWAPAP
560 570 580 590 600
LPPVPPPVPS GTREDGSREE GTRRGPGCLE CRDFRLRAAH LPLLTIEPPS
610 620 630 640 650
DSSVDLSDRS DRGSVHRQLV YEADGCSPHG TLKHKGPPGR APIPHRHYPA
660 670 680 690 700
PEGPAPAPPG PLPPAPNSGT GPSGVAGGRR LGKCEAAGEN SDGGDNESLE
710 720 730 740 750
SSSNSNETIN CSSGSSSRDS LREPPATGLC KQTYQRETRH SWDSPAFNND
760 770 780 790 800
VVQRRHYRIG LNLFNKKPEK GIQYLIERGF LSDTPVGVAH FILERKGLSR
810 820 830 840 850
QMIGEFLGNR QKQFNRDVLD CVVDEMDFSS MDLDDALRKF QSHIRVQGEA
860 870 880 890 900
QKVERLIEAF SQRYCVCNPA LVRQFRNPDT IFILAFAIIL LNTDMYSPSV
910 920 930 940 950
KAERKMKLDD FIKNLRGVDN GEDIPRDLLV GIYQRIQGRE LRTNDDHVSQ
960 970 980 990 1000
VQAVERMIVG KKPVLSLPHR RLVCCCQLYE VPDPNRPQRL GLHQREVFLF
1010 1020 1030 1040 1050
NDLLVVTKIF QKKKILVTYS FRQSFPLVEM HMQLFQNSYY QFGIKLLSAV
1060 1070 1080 1090 1100
PGGERKVLII FNAPSLQDRL RFTSDLRESI AEVQEMEKYR VESELEKQKG
1110 1120 1130 1140 1150
MMRPNASQPG GAKDSVNGTM ARSSLEDTYG AGDGLKRGAL SSSLRDLSDA
1160 1170 1180 1190 1200
GKRGRRNSVG SLDSTIEGSV ISSPRPHQRM PPPPPPPPPE EYKSQRPVSN
1210 1220 1230 1240 1250
SSSFLGSLFG SKRGKGPFQM PPPPTGQASA SSSSASSTHH HHHHHHHGHS
1260 1270 1280 1290 1300
HGGLGVLPDG QSKLQALHAQ YCQGPGPAPP PYLPPQQPSL PPPPQQPPPL
1310 1320 1330 1340 1350
PQLGSIPPPP ASAPPVGPHR HFHAHGPVPG PQHYTLGRPG RAPRRGAGGH
1360 1370 1380 1390 1400
PQFAPHGRHP LHQPTSPLPL YSPAPQHPPA HKQGPKHFIF SHHPQMMPAA
1410 1420 1430 1440 1450
GAAGGPGSRP PGGSYSHPHH PQSPLSPHSP IPPHPSYPPL PPPSPHTPHS
1460 1470 1480
PLPPTSPHGP LHASGPPGTA NPPSANPKAK PSRISTVV
Length:1,488
Mass (Da):162,784
Last modified:March 28, 2018 - v2
Checksum:i52F8B7BE28A175F3
GO
Isoform 2 (identifier: Q5JU85-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-245: MEAGSGPPGG...KSDGENSRTV → MEPPGRSSRS...LTPSGRLAES
     1152-1154: KRG → VCY
     1155-1488: Missing.

Show »
Length:949
Mass (Da):105,100
Checksum:iD7AAC5A20721037A
GO

Sequence cautioni

The sequence BAA25448 differs from that shown. Reason: Frameshift at position 1468.Curated
The sequence BAA25448 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAI42091 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti689E → K in BAG53009 (PubMed:14702039).Curated1
Sequence conflicti805E → G in BAG53009 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063742359R → C in MRX1. 1 Publication1
Natural variantiVAR_063743758R → Q in MRX1. 1 Publication1
Natural variantiVAR_078260789A → V in MRX1; decreased guanine nucleotide exchange factor activity. 1 Publication1
Natural variantiVAR_063744801Q → P in MRX1. 1 Publication1
Natural variantiVAR_063745863R → W in MRX1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0413721 – 245MEAGS…NSRTV → MEPPGRSSRSTASHTLHQYC CPTQVLDSMKLTPSGRLAES in isoform 2. 2 PublicationsAdd BLAST245
Alternative sequenceiVSP_0413731152 – 1154KRG → VCY in isoform 2. 2 Publications3
Alternative sequenceiVSP_0413741155 – 1488Missing in isoform 2. 2 PublicationsAdd BLAST334

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011094 mRNA Translation: BAA25448.1 Sequence problems.
AK095232 mRNA Translation: BAG53009.1
AL161779, AL139396 Genomic DNA Translation: CAI42091.1 Sequence problems.
FJ154891 mRNA Translation: ACR15956.1
CCDSiCCDS35298.1 [Q5JU85-3]
CCDS48130.1 [Q5JU85-2]
PIRiT00080
RefSeqiNP_001104595.1, NM_001111125.2 [Q5JU85-2]
NP_055890.1, NM_015075.1 [Q5JU85-3]
XP_016884848.1, XM_017029359.1
UniGeneiHs.496138

Genome annotation databases

EnsembliENST00000375365; ENSP00000364514; ENSG00000124313 [Q5JU85-3]
ENST00000396435; ENSP00000379712; ENSG00000124313 [Q5JU85-2]
GeneIDi23096
KEGGihsa:23096
UCSCiuc004dsc.4 human [Q5JU85-2]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiIQEC2_HUMAN
AccessioniPrimary (citable) accession number: Q5JU85
Secondary accession number(s): B3KT97
, C7SDG1, O60275, Q5JUX1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: March 28, 2018
Last modified: May 23, 2018
This is version 130 of the entry and version 2 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. Human chromosome X
    Human chromosome X: 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

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