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IQSEC1 IQ motif and Sec7 domain ArfGEF 1 [ Homo sapiens (human) ]

Gene ID: 9922, updated on 22-Jan-2020

Summary

Official Symbol
IQSEC1provided by HGNC
Official Full Name
IQ motif and Sec7 domain ArfGEF 1provided by HGNC
Primary source
HGNC:HGNC:29112
See related
Ensembl:ENSG00000144711 MIM:610166
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BRAG2; GEP100; IDDSSBA; ARFGEP100; ARF-GEP100
Expression
Ubiquitous expression in brain (RPKM 17.9), bone marrow (RPKM 13.3) and 25 other tissues See more
Orthologs

Genomic context

See IQSEC1 in Genome Data Viewer
Location:
3p25.2-p25.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (12897043..13283257, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (12938542..13114652, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene microtubule affinity regulating kinase 4 pseudogene Neighboring gene uncharacterized LOC105376956 Neighboring gene long intergenic non-protein coding RNA 2022 Neighboring gene ribosomal protein L39 pseudogene 17 Neighboring gene nucleoporin 210 Neighboring gene NUP210-HDAC11 intergenic CAGE-defined high expression enhancer

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES
MedGen: CN262929 OMIM: 618687 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0763

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ARF guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of adherens junction organization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of keratinocyte migration ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
IQ motif and SEC7 domain-containing protein 1
Names
ADP-ribosylation factors guanine nucleotide-exchange protein 100
ADP-ribosylation factors guanine nucleotide-exchange protein 2
IQ motif and Sec7 domain 1
brefeldin A-resistant ARF-GEF2
brefeldin-resistant Arf-GEF 2 protein
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001134382.3NP_001127854.1  IQ motif and SEC7 domain-containing protein 1 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC018836, AC069271, AK294525, AY653734
    Consensus CDS
    CCDS74902.1
    UniProtKB/Swiss-Prot
    Q6DN90
    UniProtKB/TrEMBL
    A0A087WWK8, B4DGC5
    Related
    ENSP00000480301.1, ENST00000613206.2
    Conserved Domains (2) summary
    cd13318
    Location:735865
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:510698
    Sec7; Sec7 domain
  2. NM_001330619.3NP_001317548.1  IQ motif and SEC7 domain-containing protein 1 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC018836, AC069271, KF495709
    Consensus CDS
    CCDS87048.1
    UniProtKB/Swiss-Prot
    Q6DN90
    UniProtKB/TrEMBL
    A0A0C4DGT3
    Related
    ENSP00000478001.1, ENST00000618604.4
    Conserved Domains (2) summary
    cd13318
    Location:627757
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:402590
    Sec7; Sec7 domain
  3. NM_001376938.2NP_001363867.1  IQ motif and SEC7 domain-containing protein 1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC018836, AC069246, AC069271, KF495709
    Related
    ENSP00000497029.1, ENST00000648114.1
  4. NM_014869.8NP_055684.3  IQ motif and SEC7 domain-containing protein 1 isoform b

    See identical proteins and their annotated locations for NP_055684.3

    Status: VALIDATED

    Source sequence(s)
    AC018836, AC069271
    Consensus CDS
    CCDS33703.1
    UniProtKB/Swiss-Prot
    Q6DN90
    Related
    ENSP00000273221.4, ENST00000273221.8
    Conserved Domains (2) summary
    cd13318
    Location:749879
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:524712
    Sec7; Sec7 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    12897043..13283257 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534307.2XP_011532609.1  IQ motif and SEC7 domain-containing protein 1 isoform X4

    Conserved Domains (2) summary
    cd13318
    Location:750880
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:525713
    Sec7; Sec7 domain
  2. XM_024453845.1XP_024309613.1  IQ motif and SEC7 domain-containing protein 1 isoform X1

    Conserved Domains (2) summary
    cd13318
    Location:617747
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:402590
    Sec7; Sec7 domain
  3. XM_024453846.1XP_024309614.1  IQ motif and SEC7 domain-containing protein 1 isoform X6

    Related
    ENSP00000498148.1, ENST00000648386.1
    Conserved Domains (2) summary
    cd13318
    Location:627757
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:402590
    Sec7; Sec7 domain
  4. XM_011534305.2XP_011532607.1  IQ motif and SEC7 domain-containing protein 1 isoform X2

    Conserved Domains (2) summary
    cd13318
    Location:753883
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:528716
    Sec7; Sec7 domain
  5. XM_011534306.3XP_011532608.1  IQ motif and SEC7 domain-containing protein 1 isoform X3

    Conserved Domains (2) summary
    cd13318
    Location:750880
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:525713
    Sec7; Sec7 domain
  6. XM_011534313.2XP_011532615.1  IQ motif and SEC7 domain-containing protein 1 isoform X7

    See identical proteins and their annotated locations for XP_011532615.1

    Conserved Domains (2) summary
    cd13318
    Location:627757
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:402590
    Sec7; Sec7 domain
  7. XM_011534311.2XP_011532613.1  IQ motif and SEC7 domain-containing protein 1 isoform X7

    See identical proteins and their annotated locations for XP_011532613.1

    Conserved Domains (2) summary
    cd13318
    Location:627757
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:402590
    Sec7; Sec7 domain
  8. XM_011534312.2XP_011532614.1  IQ motif and SEC7 domain-containing protein 1 isoform X7

    See identical proteins and their annotated locations for XP_011532614.1

    Conserved Domains (2) summary
    cd13318
    Location:627757
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:402590
    Sec7; Sec7 domain
  9. XM_011534314.2XP_011532616.1  IQ motif and SEC7 domain-containing protein 1 isoform X7

    See identical proteins and their annotated locations for XP_011532616.1

    Conserved Domains (2) summary
    cd13318
    Location:627757
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:402590
    Sec7; Sec7 domain
  10. XM_011534308.2XP_011532610.1  IQ motif and SEC7 domain-containing protein 1 isoform X5

    Conserved Domains (2) summary
    cd13318
    Location:749879
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:524712
    Sec7; Sec7 domain
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