IQSEC1

Protein identityUniProt · HPA

UniProt accession

Q6DN90

Gene

IQSEC1

Ensembl

ENSG00000144711

Chromosome

3

Canonical length

963 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Vesicles,Centrosome,Cytosol

OverviewNCBI Gene

Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in centrosome; cytosol; and nucleoplasm. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities and lung adenocarcinoma. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

963 residues, UniProt reviewed canonical sequence.

>Q6DN90|IQSEC1
     1  MWCLHCNSER TQSLLELELD SGVEGEAPSS ETGTSLDSPS AYPQGPLVPG SSLSPDHYEH
    61  TSVGAYGLYS GPPGQQQRTR RPKLQHSTSI LRKQAEEEAI KRSRSLSESY ELSSDLQDKQ
   121  VEMLERKYGG RLVTRHAART IQTAFRQYQM NKNFERLRSS MSENRMSRRI VLSNMRMQFS
   181  FEGPEKVHSS YFEGKQVSVT NDGSQLGALV SPECGDLSEP TTLKSPAPSS DFADAITELE
   241  DAFSRQVKSL AESIDDALNC RSLHTEEAPA LDAARARDTE PQTALHGMDH RKLDEMTASY
   301  SDVTLYIDEE ELSPPLPLSQ AGDRPSSTES DLRLRAGGAA PDYWALAHKE DKADTDTSCR
   361  STPSLERQEQ RLRVEHLPLL TIEPPSDSSV DLSDRSERGS LKRQSAYERS LGGQQGSPKH
   421  GPHSGAPKSL PREEPELRPR PPRPLDSHLA INGSANRQSK SESDYSDGDN DSINSTSNSN
   481  DTINCSSESS SRDSLREQTL SKQTYHKEAR NSWDSPAFSN DVIRKRHYRI GLNLFNKKPE
   541  KGVQYLIERG FVPDTPVGVA HFLLQRKGLS RQMIGEFLGN RQKQFNRDVL DCVVDEMDFS
   601  TMELDEALRK FQAHIRVQGE AQKVERLIEA FSQRYCICNP GVVRQFRNPD TIFILAFAII
   661  LLNTDMYSPN VKPERKMKLE DFIKNLRGVD DGEDIPREML MGIYERIRKR ELKTNEDHVS
   721  QVQKVEKLIV GKKPIGSLHP GLGCVLSLPH RRLVCYCRLF EVPDPNKPQK LGLHQREIFL
   781  FNDLLVVTKI FQKKKNSVTY SFRQSFSLYG MQVLLFENQY YPNGIRLTSS VPGADIKVLI
   841  NFNAPNPQDR KKFTDDLRES IAEVQEMEKH RIESELEKQK GVVRPSMSQC SSLKKESGNG
   901  TLSRACLDDS YASGEGLKRS ALSSSLRDLS EAGKRGRRSS AGSLESNVEF QPFEPLQPSV
   961  LCS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IQSEC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.51

Highest tissue expression

87 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IQSEC1.

Disease | AllUniProt

Conditions IQSEC1 is implicated in, by any mechanism.

• Intellectual developmental disorder with short stature and behavioral abnormalities (IDDSSBA) MIM:618687

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 293 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual developmental disorder with short stature and behavioral abnormalities

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.22

gnomAD pLI

1

gnomAD missense Z

2.28

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin cytoskeleton organization
• dendritic spine development
• positive regulation of focal adhesion disassembly
• positive regulation of keratinocyte migration
• regulation of ARF protein signal transduction

Molecular functions

• guanyl-nucleotide exchange factor activity
• lipid binding

Cellular components

• centrosome
• cytosol
• membrane
• nucleoplasm
• postsynaptic density
• synaptic vesicle

Protein domainsUniProt · Pfam · InterPro

• Sec7 domain
• Pleckstrin homology domain
• PH-like domain superfamily
• Sec7, C-terminal domain superfamily
• IQ motif and SEC7 domain-containing protein, PH domain
• Sec7 domain superfamily
• Sec7 domain
• PH domain

KeywordsUniProt

• Coiled coil
• Cytoplasm
• Cytoplasmic vesicle
• Dwarfism
• Guanine-nucleotide releasing factor
• Intellectual disability
• Lipid-binding
• Nucleus
• Phosphoprotein
• Synapse

InteractionsUniProt · HPA

Protein binding partners of IQSEC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ARF1
• ARF6
• GRIA2