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

Gene ID: 339834, updated on 3-Apr-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 gamete generation; meiosis I cell cycle process; and regulation of homologous chromosome segregation. Predicted to be active in condensed nuclear chromosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 12.6), fat (RPKM 1.6) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
3p21.31
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49191309..49258106)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49219377..49286187)
105.20220307 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 chromosome 3 open reading frame 84 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)

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

  • 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_2023_10

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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