IQSEC1 - IQ motif and Sec7 domain ArfGEF 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9922

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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
27265506 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IQSEC1 Protein Structure

Sec7

Sec7: Sec7 domain (524 - 712)

  • 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

IQSEC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
IQSEC1 Q6DN90 GNAQ Homo sapiens P50148
Anti Bait CoIP
27265506
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS06888 IQSEC1 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others IQSEC1 NCBI