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    IHO1 interactor of HORMAD1 1 [ Homo sapiens (human) ]

    Gene ID: 339834, updated on 27-Nov-2024

    Summary

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    Official Symbol
    IHO1provided by HGNC
    Official Full Name
    interactor of HORMAD1 1provided by HGNC
    Primary source
    HGNC:HGNC:27945
    See related
    Ensembl:ENSG00000173421 MIM:619190; AllianceGenome:HGNC:27945
    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
    CT74; LELA1; CCDC36
    Summary
    Predicted to be involved in several processes, including meiosis I cell cycle process; regulation of homologous chromosome segregation; and spermatogenesis. Predicted to be located in chromosome. Predicted to be active in condensed nuclear chromosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 12.6), fat (RPKM 1.6) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See IHO1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49191309..49258106)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49219377..49286187)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49235861..49295539)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49200790-49201290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14355 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14358 Neighboring gene coiled-coil domain containing 71 Neighboring gene kelch domain containing 8B Neighboring gene ciliary microtubule inner protein 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49230135-49230318 Neighboring gene MPRA-validated peak4647 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19858 Neighboring gene GCSH pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14359 Neighboring gene chromosome 3 open reading frame 62 Neighboring gene microRNA 4271 Neighboring gene ubiquitin specific peptidase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49353925-49354426 Neighboring gene Sjoegren syndrome nuclear autoantigen 1 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49354427-49354926

    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. Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. Wang W, et al. J Med Genet, 2020 Mar. PMID 31704776
    2. Meiotic DNA break formation requires the unsynapsed chromosome axis-binding protein IHO1 (CCDC36) in mice. Stanzione M, et al. Nat Cell Biol, 2016 Nov. PMID 27723721, Free PMC Article
    3. Image-based genome-wide siRNA screen identifies selective autophagy factors. Orvedahl A, et al. Nature, 2011 Dec 1. PMID 22020285, Free PMC Article
    4. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, 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 (20) 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • FLJ25320

    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 DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homologous chromosome pairing at meiosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homologous chromosome pairing at meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic DNA double-strand break formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic DNA double-strand break formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of homologous chromosome segregation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in condensed nuclear chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in condensed nuclear chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    interactor of HORMAD1 protein 1
    Names
    cancer/testis antigen 74
    coiled-coil domain containing 36
    coiled-coil domain-containing protein 36

    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_001135197.2 → NP_001128669.1  interactor of HORMAD1 protein 1

      See identical proteins and their annotated locations for NP_001128669.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA858032, AC121247, AC135506, AK303033, BC036202
      Consensus CDS
      CCDS33755.2
      UniProtKB/Swiss-Prot
      C9JJL0, Q05DG9, Q8IYA8, Q96LP7
      UniProtKB/TrEMBL
      B4DZP6
      Related
      ENSP00000407837.2, ENST00000452691.7
      Conserved Domains (1) summary
      pfam15771
      Location:30 → 591
      DUF4700; Domain of unknown function (DUF4700)

    2. NM_178173.4 → NP_835467.2  interactor of HORMAD1 protein 1

      See identical proteins and their annotated locations for NP_835467.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA858032, AC121247, BC036202
      Consensus CDS
      CCDS33755.2
      UniProtKB/Swiss-Prot
      C9JJL0, Q05DG9, Q8IYA8, Q96LP7
      UniProtKB/TrEMBL
      B4DZP6
      Related
      ENSP00000296449.5, ENST00000296449.9
      Conserved Domains (1) summary
      pfam15771
      Location:30 → 591
      DUF4700; Domain of unknown function (DUF4700)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49191309..49258106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533672.3 → XP_011531974.1  interactor of HORMAD1 protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011531974.1

      UniProtKB/Swiss-Prot
      C9JJL0, Q05DG9, Q8IYA8, Q96LP7
      UniProtKB/TrEMBL
      B4DZP6
      Related
      ENSP00000391788.1, ENST00000438782.5
      Conserved Domains (1) summary
      pfam15771
      Location:30 → 591
      DUF4700; Domain of unknown function (DUF4700)

    2. XM_011533673.3 → XP_011531975.1  interactor of HORMAD1 protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011531975.1

      UniProtKB/Swiss-Prot
      C9JJL0, Q05DG9, Q8IYA8, Q96LP7
      UniProtKB/TrEMBL
      B4DZP6
      Conserved Domains (1) summary
      pfam15771
      Location:30 → 591
      DUF4700; Domain of unknown function (DUF4700)

    3. XM_006713124.4 → XP_006713187.1  interactor of HORMAD1 protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006713187.1

      UniProtKB/Swiss-Prot
      C9JJL0, Q05DG9, Q8IYA8, Q96LP7
      UniProtKB/TrEMBL
      B4DZP6
      Conserved Domains (1) summary
      pfam15771
      Location:30 → 591
      DUF4700; Domain of unknown function (DUF4700)

    4. XM_047448068.1 → XP_047304024.1  interactor of HORMAD1 protein 1 isoform X3

      UniProtKB/Swiss-Prot
      C9JJL0, Q05DG9, Q8IYA8, Q96LP7

    5. XM_011533670.3 → XP_011531972.1  interactor of HORMAD1 protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DZP6
      Conserved Domains (1) summary
      pfam15771
      Location:37 → 598
      DUF4700; Domain of unknown function (DUF4700)

    6. XM_011533671.3 → XP_011531973.1  interactor of HORMAD1 protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DZP6
      Conserved Domains (1) summary
      pfam15771
      Location:37 → 596
      DUF4700; Domain of unknown function (DUF4700)

    7. XM_047448069.1 → XP_047304025.1  interactor of HORMAD1 protein 1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49219377..49286187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346419.1 → XP_054202394.1  interactor of HORMAD1 protein 1 isoform X3

      UniProtKB/Swiss-Prot
      C9JJL0, Q05DG9, Q8IYA8, Q96LP7

    2. XM_054346417.1 → XP_054202392.1  interactor of HORMAD1 protein 1 isoform X3

      UniProtKB/Swiss-Prot
      C9JJL0, Q05DG9, Q8IYA8, Q96LP7

    3. XM_054346418.1 → XP_054202393.1  interactor of HORMAD1 protein 1 isoform X3

      UniProtKB/Swiss-Prot
      C9JJL0, Q05DG9, Q8IYA8, Q96LP7

    4. XM_054346420.1 → XP_054202395.1  interactor of HORMAD1 protein 1 isoform X3

      UniProtKB/Swiss-Prot
      C9JJL0, Q05DG9, Q8IYA8, Q96LP7

    5. XM_054346415.1 → XP_054202390.1  interactor of HORMAD1 protein 1 isoform X1

    6. XM_054346416.1 → XP_054202391.1  interactor of HORMAD1 protein 1 isoform X2

    7. XM_054346421.1 → XP_054202396.1  interactor of HORMAD1 protein 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYA8.2 GenPept UniProtKB/Swiss-Prot:Q8IYA8

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