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IQSEC3 IQ motif and Sec7 domain ArfGEF 3 [ Homo sapiens (human) ]

Gene ID: 440073, updated on 29-Mar-2020

Summary

Official Symbol
IQSEC3provided by HGNC
Official Full Name
IQ motif and Sec7 domain ArfGEF 3provided by HGNC
Primary source
HGNC:HGNC:29193
See related
Ensembl:ENSG00000120645 MIM:612118
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
Expression
Biased expression in brain (RPKM 5.8), fat (RPKM 2.6) and 12 other tissues See more
Orthologs

Genomic context

See IQSEC3 in Genome Data Viewer
Location:
12p13.33
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (66767..178455)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (176049..287626)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987170 Neighboring gene WAS protein family homolog 8, pseudogene Neighboring gene family with sequence similarity 138 member D Neighboring gene uncharacterized LOC105369593 Neighboring gene uncharacterized LOC574538 Neighboring gene uncharacterized LOC105369592 Neighboring gene SLC6A12 antisense RNA 1 Neighboring gene solute carrier family 6 member 12 Neighboring gene solute carrier family 6 member 13 Neighboring gene uncharacterized LOC102723544

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

NHGRI GWAS Catalog

Description
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • KIAA1110, MGC30156

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ARF guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
glycinergic synapse IEA
Inferred from Electronic Annotation
more info
 
inhibitory synapse IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic specialization of symmetric synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
IQ motif and SEC7 domain-containing protein 3
Names
IQ motif and Sec7 domain 3

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_001170738.2NP_001164209.1  IQ motif and SEC7 domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_001164209.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC007406, AC026369
    Consensus CDS
    CCDS53728.1
    UniProtKB/Swiss-Prot
    Q9UPP2
    Related
    ENSP00000437554.1, ENST00000538872.6
    Conserved Domains (3) summary
    cd14686
    Location:3263
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    cd13318
    Location:866996
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:651839
    Sec7; Sec7 domain
  2. NM_015232.1NP_056047.1  IQ motif and SEC7 domain-containing protein 3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter, lacks an alternate exon, uses a downstream start codon, and uses a distinct exon in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a shorter N-terminus and a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC026369, AK091953
    Consensus CDS
    CCDS31725.1
    UniProtKB/Swiss-Prot
    Q9UPP2
    Related
    ENSP00000372292.2, ENST00000382841.2
    Conserved Domains (2) summary
    cd13318
    Location:563693
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:348536
    Sec7; Sec7 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    66767..178455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520958.2XP_011519260.1  IQ motif and SEC7 domain-containing protein 3 isoform X1

    Conserved Domains (3) summary
    cd14686
    Location:3263
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    cd13318
    Location:866996
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:651839
    Sec7; Sec7 domain
  2. XM_017019311.1XP_016874800.1  IQ motif and SEC7 domain-containing protein 3 isoform X3

  3. XM_011520959.2XP_011519261.1  IQ motif and SEC7 domain-containing protein 3 isoform X2

    See identical proteins and their annotated locations for XP_011519261.1

    Conserved Domains (3) summary
    cd14686
    Location:3263
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    cd13318
    Location:866996
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:651839
    Sec7; Sec7 domain
  4. XM_017019310.1XP_016874799.1  IQ motif and SEC7 domain-containing protein 3 isoform X3

  5. XM_011520960.1XP_011519262.1  IQ motif and SEC7 domain-containing protein 3 isoform X2

    See identical proteins and their annotated locations for XP_011519262.1

    Conserved Domains (3) summary
    cd14686
    Location:3263
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
    cd13318
    Location:866996
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:651839
    Sec7; Sec7 domain
  6. XM_011520961.1XP_011519263.1  IQ motif and SEC7 domain-containing protein 3 isoform X4

    See identical proteins and their annotated locations for XP_011519263.1

    Conserved Domains (2) summary
    cd13318
    Location:563693
    PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
    pfam01369
    Location:348536
    Sec7; Sec7 domain

RNA

  1. XR_001748706.1 RNA Sequence

  2. XR_931513.1 RNA Sequence

  3. XR_001748707.1 RNA Sequence

  4. XR_001748708.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003571049.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    60782..165343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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