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    IQCA1 IQ motif containing with AAA domain 1 [ Homo sapiens (human) ]

    Gene ID: 79781, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IQCA1provided by HGNC
    Official Full Name
    IQ motif containing with AAA domain 1provided by HGNC
    Primary source
    HGNC:HGNC:26195
    See related
    Ensembl:ENSG00000132321 AllianceGenome:HGNC:26195
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IQCA; DRC11; 4930465P12Rik
    Summary
    The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
    Expression
    Biased expression in thyroid (RPKM 10.5), brain (RPKM 3.7) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IQCA1 in Genome Data Viewer
    Location:
    2q37.2-q37.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (236306685..236507476, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (236813779..236997787, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (237232794..237416119, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene GBX2 and ASB18 antisense RNA 1 Neighboring gene uncharacterized LOC124908000 Neighboring gene RNA, U1 small nuclear 31, pseudogene Neighboring gene ankyrin repeat and SOCS box containing 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237147150-237147780 Neighboring gene uncharacterized LOC105373945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237250178-237251092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237251093-237252007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237260323-237260824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237260825-237261324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237264389-237264974 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:237300037-237301236 Neighboring gene IQCA1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237338113-237338612 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:237348547-237349746 Neighboring gene ribosomal protein L3 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237458903-237459402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237459480-237460270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237475953-237476828 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:237476829-237477704 Neighboring gene atypical chemokine receptor 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:237488204-237489403 Neighboring gene uncharacterized LOC107986001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:237509317-237509817

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The N-DRC forms a conserved biochemical complex that maintains outer doublet alignment and limits microtubule sliding in motile axonemes. Bower R, et al. Mol Biol Cell, 2013 Apr. PMID 23427265, Free PMC Article
    2. Genome-wide association of lipid-lowering response to statins in combined study populations. Barber MJ, et al. PLoS One, 2010 Mar 22. PMID 20339536, Free PMC Article
    3. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. König R, et al. Cell, 2008 Oct 3. PMID 18854154, Free PMC Article
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    5. Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein-protein interactions in the human cell. Bartolec TK, et al. Proc Natl Acad Sci U S A, 2023 Apr 25. PMID 37071682, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of IQ motif containing with AAA domain 1 (IQCA1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22527, FLJ33588

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule severing ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dynein regulatory complex protein 11
    Names
    IQ and AAA domain-containing protein 1
    dynein regulatory complex subunit 11

    NCBI Reference Sequences (RefSeq)

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    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_001270584.2 → NP_001257513.1  dynein regulatory complex protein 11 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AK294105, BC043504, CD688750
      Consensus CDS
      CCDS59441.1
      UniProtKB/TrEMBL
      B4DIF4
      Related
      ENSP00000311951.6, ENST00000309507.9
      Conserved Domains (2) summary
      COG0464
      Location:448 → 747
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      pfam00004
      Location:530 → 663
      AAA; ATPase family associated with various cellular activities (AAA)

    2. NM_001270585.2 → NP_001257514.1  dynein regulatory complex protein 11 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, initiates translation at an alternate start codon, and uses an alternate in-frame splice site in an internal exon compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AK295566, BC043504, BX117697, HY127810
      Consensus CDS
      CCDS74677.1
      UniProtKB/TrEMBL
      A0A0A0MSY6, B4DIF4
      Related
      ENSP00000407213.3, ENST00000431676.6
      Conserved Domains (2) summary
      COG0464
      Location:497 → 796
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
      pfam00004
      Location:579 → 712
      AAA; ATPase family associated with various cellular activities (AAA)

    3. NM_024726.5 → NP_079002.3  dynein regulatory complex protein 11 isoform 1

      See identical proteins and their annotated locations for NP_079002.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC043504, CD688750
      Consensus CDS
      CCDS46549.1
      UniProtKB/Swiss-Prot
      B4DFH9, E7EWQ0, Q4G164, Q53R37, Q53RV3, Q86XH1, Q96NS7, Q9H680
      UniProtKB/TrEMBL
      B4DIF4
      Related
      ENSP00000387347.3, ENST00000409907.8
      Conserved Domains (1) summary
      COG0464
      Location:489 → 788
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

    RNA

    1. NR_073043.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site and includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC028699, BC043504
      Related
      ENST00000254653.9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      236306685..236507476 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445852.1 → XP_047301808.1  dynein regulatory complex protein 11 isoform X5

      UniProtKB/TrEMBL
      B4DIF4

    2. XM_011511865.4 → XP_011510167.1  dynein regulatory complex protein 11 isoform X2

      UniProtKB/TrEMBL
      B4DIF4
      Conserved Domains (1) summary
      COG0464
      Location:490 → 789
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

    3. XM_017004960.2 → XP_016860449.1  dynein regulatory complex protein 11 isoform X4

      UniProtKB/TrEMBL
      B4DIF4
      Conserved Domains (1) summary
      COG0464
      Location:455 → 754
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

    4. XM_011511866.2 → XP_011510168.1  dynein regulatory complex protein 11 isoform X3

      UniProtKB/TrEMBL
      B4DIF4
      Conserved Domains (1) summary
      COG0464
      Location:456 → 755
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

    5. XM_011511864.3 → XP_011510166.1  dynein regulatory complex protein 11 isoform X1

      UniProtKB/TrEMBL
      B4DIF4
      Conserved Domains (1) summary
      COG0464
      Location:496 → 795
      SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

    RNA

    1. XR_007081589.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      236813779..236997787 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343961.1 → XP_054199936.1  dynein regulatory complex protein 11 isoform X5

      UniProtKB/TrEMBL
      B4DIF4

    2. XM_054343958.1 → XP_054199933.1  dynein regulatory complex protein 11 isoform X2

      UniProtKB/TrEMBL
      B4DIF4

    3. XM_054343960.1 → XP_054199935.1  dynein regulatory complex protein 11 isoform X4

      UniProtKB/TrEMBL
      B4DIF4

    4. XM_054343959.1 → XP_054199934.1  dynein regulatory complex protein 11 isoform X3

      UniProtKB/TrEMBL
      B4DIF4

    5. XM_054343957.1 → XP_054199932.1  dynein regulatory complex protein 11 isoform X1

      UniProtKB/TrEMBL
      B4DIF4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XH1.1 GenPept UniProtKB/Swiss-Prot:Q86XH1

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