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Entry version 145 (22 Apr 2020)
Sequence version 2 (28 Mar 2018)
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Protein

IQ motif and SEC7 domain-containing protein 2

Gene

IQSEC2

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
IQ motif and SEC7 domain-containing protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IQSEC2
Synonyms:KIAA0522
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29059 IQSEC2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300522 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5JU85

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063742359R → C in MRX1. 1 PublicationCorresponds to variant dbSNP:rs267607188EnsemblClinVar.1
Natural variantiVAR_063743758R → Q in MRX1. 1 PublicationCorresponds to variant dbSNP:rs267607189EnsemblClinVar.1
Natural variantiVAR_078260789A → V in MRX1; decreased guanine nucleotide exchange factor activity. 1 PublicationCorresponds to variant dbSNP:rs875989799EnsemblClinVar.1
Natural variantiVAR_063744801Q → P in MRX1. 1 PublicationCorresponds to variant dbSNP:rs267607187EnsemblClinVar.1
Natural variantiVAR_063745863R → W in MRX1. 1 PublicationCorresponds to variant dbSNP:rs267607186EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
23096

MalaCards human disease database

More...
MalaCardsi
IQSEC2
MIMi309530 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000124313

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
217377 Microduplication Xp11.22p11.23 syndrome
397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
819 Smith-Magenis syndrome
777 X-linked non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134870898

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5JU85 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IQSEC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74742276

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002456081 – 1488IQ motif and SEC7 domain-containing protein 2Add BLAST1488

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5JU85

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5JU85

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5JU85

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5JU85

PeptideAtlas

More...
PeptideAtlasi
Q5JU85

PRoteomics IDEntifications database

More...
PRIDEi
Q5JU85

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
63261 [Q5JU85-2]
63262 [Q5JU85-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5JU85

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5JU85

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000124313 Expressed in right frontal lobe and 196 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5JU85 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5JU85 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000124313 Tissue enhanced (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116724, 10 interactors

Database of interacting proteins

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DIPi
DIP-59490N

Protein interaction database and analysis system

More...
IntActi
Q5JU85, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000379712

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5JU85 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11488
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q5JU85

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini347 – 376IQPROSITE-ProRule annotationAdd BLAST30
Domaini746 – 939SEC7PROSITE-ProRule annotationAdd BLAST194

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili23 – 74Sequence analysisAdd BLAST52

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi525 – 666Pro-richPROSITE-ProRule annotationAdd BLAST142
Compositional biasi1174 – 1481Pro-richPROSITE-ProRule annotationAdd BLAST308
Compositional biasi1239 – 1251His-richPROSITE-ProRule annotationAdd BLAST13

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the BRAG family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0931 Eukaryota
COG5307 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159667

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_004328_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5JU85

KEGG Orthology (KO)

More...
KOi
K12495

Identification of Orthologs from Complete Genome Data

More...
OMAi
LDSTIEX

Database of Orthologous Groups

More...
OrthoDBi
837077at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5JU85

TreeFam database of animal gene trees

More...
TreeFami
TF323811

Family and domain databases

Conserved Domains Database

More...
CDDi
cd13318 PH_IQSEC, 1 hit
cd00171 Sec7, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.1000.11, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16453 IQ_SEC7_PH, 1 hit
PF01369 Sec7, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00233 PH, 1 hit
SM00222 Sec7, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48425 SSF48425, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50096 IQ, 1 hit
PS50190 SEC7, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5JU85-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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
Isoform 3 (identifier: Q5JU85-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: MEAGSGPPGG...ESQLHRGELH → MEPPGRSSRS...ASECSSPSSR
     74-1488: Missing.

Show »
Length:73
Mass (Da):8,191
Checksum:i3D2DA2F907D74440
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PPU7A0A1W2PPU7_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC2
334Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PR28A0A1W2PR28_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC2
1,154Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PRJ5A0A1W2PRJ5_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC2
530Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPE7A0A1W2PPE7_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC2
189Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQS2A0A1W2PQS2_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC2
111Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PR18A0A1W2PR18_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC2
256Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPD3A0A1W2PPD3_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC2
74Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPR2A0A1W2PPR2_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC2
41Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PQP8A0A1W2PQP8_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC2
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PR10A0A1W2PR10_HUMAN
IQ motif and SEC7 domain-containing...
IQSEC2
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There is more potential isoformShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA25448 differs from that shown. Reason: Frameshift.Curated
The sequence BAA25448 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence CAI42091 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs267607188EnsemblClinVar.1
Natural variantiVAR_063743758R → Q in MRX1. 1 PublicationCorresponds to variant dbSNP:rs267607189EnsemblClinVar.1
Natural variantiVAR_078260789A → V in MRX1; decreased guanine nucleotide exchange factor activity. 1 PublicationCorresponds to variant dbSNP:rs875989799EnsemblClinVar.1
Natural variantiVAR_063744801Q → P in MRX1. 1 PublicationCorresponds to variant dbSNP:rs267607187EnsemblClinVar.1
Natural variantiVAR_063745863R → W in MRX1. 1 PublicationCorresponds to variant dbSNP:rs267607186EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0413721 – 245MEAGS…NSRTV → MEPPGRSSRSTASHTLHQYC CPTQVLDSMKLTPSGRLAES in isoform 2. 2 PublicationsAdd BLAST245
Alternative sequenceiVSP_0596051 – 73MEAGS…RGELH → MEPPGRSSRSTASHTLHQYC CPTQVLDSMKLTPSGRLAES REEEEEEETEEEEEEDAHQF CCPASECSSPSSR in isoform 3. Add BLAST73
Alternative sequenceiVSP_05960674 – 1488Missing in isoform 3. Add BLAST1415
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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB011094 mRNA Translation: BAA25448.1 Sequence problems.
AK095232 mRNA Translation: BAG53009.1
AC245102 Genomic DNA No translation available.
AL161779, AL139396 Genomic DNA Translation: CAI42091.1 Sequence problems.
FJ154891 mRNA Translation: ACR15956.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS35298.1 [Q5JU85-3]
CCDS48130.1 [Q5JU85-2]
CCDS87748.1 [Q5JU85-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
T00080

NCBI Reference Sequences

More...
RefSeqi
NP_001104595.1, NM_001111125.2 [Q5JU85-2]
NP_001230126.1, NM_001243197.1 [Q5JU85-4]
NP_055890.1, NM_015075.1 [Q5JU85-3]
XP_016884848.1, XM_017029359.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000375365; ENSP00000364514; ENSG00000124313 [Q5JU85-3]
ENST00000639161; ENSP00000491796; ENSG00000124313 [Q5JU85-4]
ENST00000642864; ENSP00000495726; ENSG00000124313 [Q5JU85-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23096

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23096

UCSC genome browser

More...
UCSCi
uc004dsc.4 human [Q5JU85-2]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011094 mRNA Translation: BAA25448.1 Sequence problems.
AK095232 mRNA Translation: BAG53009.1
AC245102 Genomic DNA No translation available.
AL161779, AL139396 Genomic DNA Translation: CAI42091.1 Sequence problems.
FJ154891 mRNA Translation: ACR15956.1
CCDSiCCDS35298.1 [Q5JU85-3]
CCDS48130.1 [Q5JU85-2]
CCDS87748.1 [Q5JU85-4]
PIRiT00080
RefSeqiNP_001104595.1, NM_001111125.2 [Q5JU85-2]
NP_001230126.1, NM_001243197.1 [Q5JU85-4]
NP_055890.1, NM_015075.1 [Q5JU85-3]
XP_016884848.1, XM_017029359.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6FAEX-ray2.35A729-1099[»]
SMRiQ5JU85
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi116724, 10 interactors
DIPiDIP-59490N
IntActiQ5JU85, 6 interactors
STRINGi9606.ENSP00000379712

PTM databases

iPTMnetiQ5JU85
PhosphoSitePlusiQ5JU85

Polymorphism and mutation databases

BioMutaiIQSEC2
DMDMi74742276

Proteomic databases

EPDiQ5JU85
jPOSTiQ5JU85
MassIVEiQ5JU85
PaxDbiQ5JU85
PeptideAtlasiQ5JU85
PRIDEiQ5JU85
ProteomicsDBi63261 [Q5JU85-2]
63262 [Q5JU85-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
583 60 antibodies

The DNASU plasmid repository

More...
DNASUi
23096

Genome annotation databases

EnsembliENST00000375365; ENSP00000364514; ENSG00000124313 [Q5JU85-3]
ENST00000639161; ENSP00000491796; ENSG00000124313 [Q5JU85-4]
ENST00000642864; ENSP00000495726; ENSG00000124313 [Q5JU85-2]
GeneIDi23096
KEGGihsa:23096
UCSCiuc004dsc.4 human [Q5JU85-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23096
DisGeNETi23096

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IQSEC2
HGNCiHGNC:29059 IQSEC2
HPAiENSG00000124313 Tissue enhanced (brain)
MalaCardsiIQSEC2
MIMi300522 gene
309530 phenotype
neXtProtiNX_Q5JU85
OpenTargetsiENSG00000124313
Orphaneti217377 Microduplication Xp11.22p11.23 syndrome
397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
819 Smith-Magenis syndrome
777 X-linked non-syndromic intellectual disability
PharmGKBiPA134870898

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0931 Eukaryota
COG5307 LUCA
GeneTreeiENSGT00940000159667
HOGENOMiCLU_004328_0_0_1
InParanoidiQ5JU85
KOiK12495
OMAiLDSTIEX
OrthoDBi837077at2759
PhylomeDBiQ5JU85
TreeFamiTF323811

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
IQSEC2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
IQSEC2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23096
PharosiQ5JU85 Tbio

Protein Ontology

More...
PROi
PR:Q5JU85
RNActiQ5JU85 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000124313 Expressed in right frontal lobe and 196 other tissues
ExpressionAtlasiQ5JU85 baseline and differential
GenevisibleiQ5JU85 HS

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
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIQEC2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5JU85
Secondary accession number(s): A0A1W2PQN3
, B3KT97, C7SDG1, O60275, Q5JUX1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: March 28, 2018
Last modified: April 22, 2020
This is version 145 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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