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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
    mouse all
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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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