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

Gene ID: 339669, updated on 2-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 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)

Genotypes

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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