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    CIMIP4 ciliary microtubule inner protein 4 [ Homo sapiens (human) ]

    Gene ID: 339669, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CIMIP4provided by HGNC
    Official Full Name
    ciliary microtubule inner protein 4provided by HGNC
    Primary source
    HGNC:HGNC:28568
    See related
    Ensembl:ENSG00000185264 MIM:620945; AllianceGenome:HGNC:28568
    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
    EAN57; TEX33; C22orf33; cE81G9.2
    Summary
    Predicted to be located in sperm flagellum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 21.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See CIMIP4 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36991125..37007851, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37450704..37467442, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37387166..37403892, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900478 Neighboring gene CSF2RB pseudogene 1 Neighboring gene uncharacterized protein FLJ39582-like Neighboring gene CRISPRi-validated cis-regulatory element chr22.1656 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37408066-37408566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37408567-37409067 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37414031-37415006 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:37415035-37415536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13676 Neighboring gene thiosulfate sulfurtransferase Neighboring gene mercaptopyruvate sulfurtransferase Neighboring gene uncharacterized LOC112268295 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37428845-37429362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37429455-37430120

    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. Identification of testis 14-3-3 binding proteins by tandem affinity purification. Puri P, et al. Spermatogenesis, 2011 Oct. PMID 22332119, Free PMC Article
    2. Testis-expressed protein 33 is not essential for spermiogenesis and fertility in mice. Xia M, et al. Mol Med Rep, 2021 May. PMID 33760102, Free PMC Article
    3. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
    4. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Testis-expressed protein 33 is not essential for spermiogenesis and fertility in mice.
      Title: Testis-expressed protein 33 is not essential for spermiogenesis and fertility in mice.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC35206

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ciliary microtubule inner protein 4
    Names
    protein EAN57
    testis expressed 33
    testis-expressed protein 33
    testis-expressed sequence 33 protein

    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_001163857.2 → NP_001157329.1  ciliary microtubule inner protein 4 isoform 1

      See identical proteins and their annotated locations for NP_001157329.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BE502000, BI827796, DB447439, Z73420, Z82180
      Consensus CDS
      CCDS54524.1
      UniProtKB/Swiss-Prot
      B1AH46, O43247, Q6ICF2, Q8IVQ2, Q9Y4V8
      Related
      ENSP00000371243.1, ENST00000381821.2
      Conserved Domains (1) summary
      pfam15400
      Location:140 → 277
      TEX33; Testis-expressed sequence 33 protein family

    2. NM_178552.4 → NP_848647.1  ciliary microtubule inner protein 4 isoform 2

      See identical proteins and their annotated locations for NP_848647.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site that results in a distinct 5' UTR and translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC042635, BE502000, BI827796, DB447439, Z73420, Z82180
      Consensus CDS
      CCDS13937.1
      UniProtKB/Swiss-Prot
      O43247
      Related
      ENSP00000385179.3, ENST00000402860.7
      Conserved Domains (1) summary
      pfam15400
      Location:55 → 192
      TEX33; Testis-expressed sequence 33 protein family

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      36991125..37007851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530165.3 → XP_011528467.1  ciliary microtubule inner protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011528467.1

      UniProtKB/Swiss-Prot
      B1AH46, O43247, Q6ICF2, Q8IVQ2, Q9Y4V8
      Related
      ENSP00000386118.2, ENST00000405091.6
      Conserved Domains (1) summary
      pfam15400
      Location:140 → 277
      TEX33; Testis-expressed sequence 33 protein family

    2. XM_011530166.2 → XP_011528468.1  ciliary microtubule inner protein 4 isoform X2

      See identical proteins and their annotated locations for XP_011528468.1

      UniProtKB/Swiss-Prot
      O43247
      Conserved Domains (1) summary
      pfam15400
      Location:55 → 192
      TEX33; Testis-expressed sequence 33 protein family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37450704..37467442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325595.1 → XP_054181570.1  ciliary microtubule inner protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B1AH46, O43247, Q6ICF2, Q8IVQ2, Q9Y4V8

    2. XM_054325596.1 → XP_054181571.1  ciliary microtubule inner protein 4 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43247.2 GenPept UniProtKB/Swiss-Prot:O43247

    Gene LinkOut

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