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IQCE IQ motif containing E [ Homo sapiens (human) ]

Gene ID: 23288, updated on 3-Apr-2024

Summary

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Official Symbol
IQCEprovided by HGNC
Official Full Name
IQ motif containing Eprovided by HGNC
Primary source
HGNC:HGNC:29171
See related
Ensembl:ENSG00000106012 MIM:617631; AllianceGenome:HGNC:29171
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
PAPA7; 1700028P05Rik
Summary
Involved in limb morphogenesis. Predicted to be extrinsic component of membrane. Predicted to be part of plasma membrane protein complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 11.3), brain (RPKM 6.8) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
7p22.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2558979..2614728)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2672578..2728247)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2598613..2654362)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2568003-2568977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2568978-2569951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2570927-2571899 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:2573085-2574005 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:2574006-2574925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2575635-2576136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2576137-2576636 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2586847-2587013 Neighboring gene LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene microRNA 4648 Neighboring gene uncharacterized LOC124901849 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2595065-2595742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2606477-2607079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2607080-2607681 Neighboring gene BRCA1 associated ATM activator 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:2611286-2612485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2624592-2625163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2649707-2650280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2650281-2650854 Neighboring gene uncharacterized LOC107986760 Neighboring gene Sharpr-MPRA regulatory region 835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2662913-2663422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2671045-2671776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2672509-2673241 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2673974-2674706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2676733-2677406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2677407-2678078 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2680771-2681442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2681443-2682114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25541 Neighboring gene Sharpr-MPRA regulatory region 8408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2692145-2692912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2699787-2700287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25543 Neighboring gene tweety family member 3 Neighboring gene Sharpr-MPRA regulatory region 3776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2720455-2720960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2749197-2749892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25549 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2752776-2752975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25550 Neighboring gene archaelysin family metallopeptidase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2773373-2774360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25551 Neighboring gene G protein subunit alpha 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2801665-2802194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2802725-2803253

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. Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. Umair M, et al. Eur J Hum Genet, 2017 Aug. PMID 28488682, Free PMC Article
  2. Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. Estrada-Cuzcano A, et al. Hum Mutat, 2020 Jan. PMID 31549751
  3. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Kikuno R, et al. DNA Res, 1999 Jun 30. PMID 10470851
  4. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. Wang B, et al. EBioMedicine, 2019 Mar. PMID 30745168, Free PMC Article
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
    Title: Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
  2. Frameshift and a premature stop codon 22 in IQCE completely co-segregated with post-axial polydactyly phenotype within the family.
    Title: Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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

Associated conditions

Description Tests
Polydactyly, postaxial, type a7
MedGen: C4539976 OMIM: 617642 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1023, MGC41907

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in ciliary membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cilium TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
IQ domain-containing protein E

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_001287499.2 → NP_001274428.1  IQ domain-containing protein E isoform 3

    See identical proteins and their annotated locations for NP_001274428.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 3' terminal exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is longer than isoform 1.
    Source sequence(s)
    AK092404, AK302053, HY029256
    Consensus CDS
    CCDS75559.1
    UniProtKB/TrEMBL
    A0A087WX45, B3KRY4
    Related
    ENSP00000480715.1, ENST00000476665.5
    Conserved Domains (1) summary
    TIGR04523
    Location:141 → 472
    Mplasa_alph_rch; helix-rich Mycoplasma protein

  2. NM_001287500.2 → NP_001274429.1  IQ domain-containing protein E isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, and contains an alternate 3' terminal exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK092404, AK293372, AK302053, HY029256
    Consensus CDS
    CCDS47527.2
    UniProtKB/TrEMBL
    A0A087WX19, B4DDX4
    Related
    ENSP00000480668.1, ENST00000611775.4
    Conserved Domains (1) summary
    TIGR04523
    Location:125 → 456
    Mplasa_alph_rch; helix-rich Mycoplasma protein

  3. NM_001287501.2 → NP_001274430.1  IQ domain-containing protein E isoform 5

    See identical proteins and their annotated locations for NP_001274430.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons in the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (5) is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AL136792, AL137525, BC043150, HY029256
    Consensus CDS
    CCDS75560.1
    UniProtKB/TrEMBL
    X5DR21
    Related
    ENSP00000485601.1, ENST00000623361.3
    Conserved Domains (1) summary
    COG1196
    Location:81 → 367
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  4. NM_001287502.2 → NP_001274431.1  IQ domain-containing protein E isoform 6

    See identical proteins and their annotated locations for NP_001274431.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks two alternate exons in the 5' coding region, initiates translation at a downstream in-frame start codon, and contains an alternate 3' terminal exon and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (6) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK302053, HY029256
    UniProtKB/TrEMBL
    B4DDX4, B4DXN1
    Conserved Domains (1) summary
    COG1196
    Location:81 → 367
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  5. NM_001410865.1 → NP_001397794.1  IQ domain-containing protein E isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC073462, AC092488
    Consensus CDS
    CCDS94047.1
    Related
    ENSP00000396178.2, ENST00000438376.6

  6. NM_152558.5 → NP_689771.3  IQ domain-containing protein E isoform 1

    See identical proteins and their annotated locations for NP_689771.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AL136792, AL137525, BC071858, HY029256
    Consensus CDS
    CCDS43542.1
    UniProtKB/Swiss-Prot
    Q4G0P7, Q6IPM2, Q6P7T4, Q9H0H7, Q9UPX7
    UniProtKB/TrEMBL
    X5DR21
    Related
    ENSP00000385597.2, ENST00000402050.7
    Conserved Domains (1) summary
    TIGR04523
    Location:141 → 472
    Mplasa_alph_rch; helix-rich Mycoplasma protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    2558979..2614728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011902.2 → XP_016867391.1  IQ domain-containing protein E isoform X2

    UniProtKB/TrEMBL
    X5DR21

  2. XM_047420081.1 → XP_047276037.1  IQ domain-containing protein E isoform X1

  3. XM_011515242.2 → XP_011513544.1  IQ domain-containing protein E isoform X3

    UniProtKB/TrEMBL
    B3KRY4
    Conserved Domains (1) summary
    COG1196
    Location:101 → 387
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  4. XM_047420083.1 → XP_047276039.1  IQ domain-containing protein E isoform X4

  5. XM_024446699.2 → XP_024302467.1  IQ domain-containing protein E isoform X7

    UniProtKB/TrEMBL
    B4DDX4
    Conserved Domains (1) summary
    cl25732
    Location:70 → 339
    SMC_N; RecF/RecN/SMC N terminal domain

  6. XM_017011903.2 → XP_016867392.1  IQ domain-containing protein E isoform X6

    UniProtKB/TrEMBL
    X5DR21
    Related
    ENSP00000313772.7, ENST00000325979.11
    Conserved Domains (1) summary
    COG1196
    Location:81 → 367
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  7. XM_047420084.1 → XP_047276040.1  IQ domain-containing protein E isoform X5

    UniProtKB/TrEMBL
    B4DXN1

  8. XM_006715676.3 → XP_006715739.1  IQ domain-containing protein E isoform X5

    See identical proteins and their annotated locations for XP_006715739.1

    UniProtKB/TrEMBL
    B4DDX4, B4DXN1
    Conserved Domains (1) summary
    COG1196
    Location:81 → 367
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  9. XM_011515244.4 → XP_011513546.1  IQ domain-containing protein E isoform X8

    Conserved Domains (1) summary
    COG1196
    Location:4 → 252
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    2672578..2728247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357693.1 → XP_054213668.1  IQ domain-containing protein E isoform X2

  2. XM_054357692.1 → XP_054213667.1  IQ domain-containing protein E isoform X1

  3. XM_054357694.1 → XP_054213669.1  IQ domain-containing protein E isoform X3

  4. XM_054357695.1 → XP_054213670.1  IQ domain-containing protein E isoform X4

  5. XM_054357698.1 → XP_054213673.1  IQ domain-containing protein E isoform X7

  6. XM_054357697.1 → XP_054213672.1  IQ domain-containing protein E isoform X6

  7. XM_054357696.1 → XP_054213671.1  IQ domain-containing protein E isoform X5

  8. XM_054357699.1 → XP_054213674.1  IQ domain-containing protein E isoform X8

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001100390.1: Suppressed sequence

    Description
    NM_001100390.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IPM2.2 GenPept UniProtKB/Swiss-Prot:Q6IPM2

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