IQSEC1 - IQ motif and Sec7 domain ArfGEF 1 Gene

Homo sapiens

Also known as BRAG2; GEP100; IDDSSBA; ARFGEP100; ARF-GEP100

Gene ID: 9922 | Gene type: protein coding

About IQSEC1

Cytogenetic location: 3p25.2-p25.1 Genomic coordinates (GRCh38): 3:12,897,043-13,283,257 (from NCBI)

This gene has 9 transcripts (splice variants), 288 orthologues, 15 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 17.9), bone marrow (RPKM 13.3) and 25 other tissues.

Summary

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 nucleolus. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities. [provided by Alliance of Genome Resources, Apr 2022]

IQSEC1 Products(4)

mRNA	Protein	Name
NM_001134382.3	NP_001127854.1	IQ motif and SEC7 domain-containing protein 1 isoform a
NM_001330619.3	NP_001317548.1	IQ motif and SEC7 domain-containing protein 1 isoform c
NM_001376938.2	NP_001363867.1	IQ motif and SEC7 domain-containing protein 1 isoform d
NM_014869.8	NP_055684.3	IQ motif and SEC7 domain-containing protein 1 isoform b

IQSEC1 Protein Structure

Sec7

0
200
400
600
800
963 a.a.

Protein Preferred Names

Protein Names

IQ motif and SEC7 domain-containing protein 1

ADP-ribosylation factors guanine nucleotide-exchange protein 100

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities

IDDSSBA

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Aphasia

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1	Mrx18
Mrx78	X-Linked Mental Retardation 1/78
X-Linked Mental Retardation 18

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06888	IQSEC1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	IQSEC1	MGD	MGI:1196356
Canis familiaris	IQSEC1	VGNC	VGNC:42083
Rattus norvegicus	IQSEC1	RGD	RGD:1596313
Felis catus	IQSEC1	VGNC	VGNC:62967
Macaca mulatta	IQSEC1	VGNC	VGNC:73677
Bos taurus	IQSEC1	VGNC	VGNC:30261

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