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

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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 EBI GWAS CatalogPubMed

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

D2S338 (e-PCR), detects polymorphism
- UniSTS:12084

G16443 (e-PCR)
- UniSTS:13190

SHGC-142666 (e-PCR)
- UniSTS:174049

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)

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)
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)
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

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

236306685..236507476 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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