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    Spmip6 sperm microtubule inner protein 6 [ Mus musculus (house mouse) ]

    Gene ID: 73721, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Spmip6provided by MGI
    Official Full Name
    sperm microtubule inner protein 6provided by MGI
    Primary source
    MGI:MGI:1920971
    See related
    Ensembl:ENSMUSG00000028441 AllianceGenome:MGI:1920971
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cbe1; Smrp1; 1110017D15Rik
    Summary
    Enables alpha-tubulin binding activity. Involved in flagellated sperm motility. Acts upstream of or within protein-containing complex assembly. Located in several cellular components, including manchette; perinuclear region of cytoplasm; and sperm midpiece. Is active in axonemal A tubule inner sheath and sperm flagellum. Is expressed in several structures, including sensory organ; skeleton; tarsus; testis; and thymus. Orthologous to human SPMIP6 (sperm microtubule inner protein 6). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis adult (RPKM 148.4) See more
    Orthologs
    human all
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    Genomic context

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    See Spmip6 in Genome Data Viewer
    Location:
    4 A5; 4 21.7 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (41505005..41517333, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (41505005..41517366, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E277 Neighboring gene nudix hydrolase 2 Neighboring gene STARR-seq mESC enhancer starr_10034 Neighboring gene myogenesis regulating glycosidase (putative) Neighboring gene family with sequence similarity 219, member A, opposite strand Neighboring gene family with sequence similarity 219, member A Neighboring gene predicted gene 12404

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. CBE1 Is a Manchette- and Mitochondria-Associated Protein With a Potential Role in Somatic Cell Proliferation. Pleuger C, et al. Endocrinology, 2019 Nov 1. PMID 31504408
    2. Isolation and characterization of the spermatid-specific Smrp1 gene encoding a novel manchette protein. Matsuoka Y, et al. Mol Reprod Dev, 2008 Jun. PMID 18163442
    3. Characterization of ciliated bronchial epithelium 1, a ciliated cell-associated gene induced during mucociliary differentiation. Yoshisue H, et al. Am J Respir Cell Mol Biol, 2004 Nov. PMID 15242845
    4. Chronological expression of Ciliated Bronchial Epithelium 1 during pulmonary development. Haitchi HM, et al. Eur Respir J, 2009 May. PMID 19213785
    5. Structures of sperm flagellar doublet microtubules expand the genetic spectrum of male infertility. Zhou L, et al. Cell, 2023 Jun 22. PMID 37295417

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. localized to the mitochondria and the contractile ring of dividing inner medullary collecting duct cells; associated with intramanchette transport and midpiece formation of the sperm tail; long isoforms not essential for male fertility
      Title: CBE1 Is a Manchette- and Mitochondria-Associated Protein With a Potential Role in Somatic Cell Proliferation.
    2. Chronological regulation of CBE1/Cbe1 expression during pulmonary differentiation suggests involvement in ciliogenesis, with an additional role during early lung development.
      Title: Chronological expression of Ciliated Bronchial Epithelium 1 during pulmonary development.
    3. 1110017D15Rik is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
      Title: Tissue expression patterns identify mouse cilia genes.
    4. SMRP1 was localized to the cytoplasm of step 9-12 elongated spermatids. The protein appeared in a cap formation that covered the caudal sides of the elongated nuclei.
      Title: Isolation and characterization of the spermatid-specific Smrp1 gene encoding a novel manchette protein.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in flagellated sperm motility IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in manchette IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in manchette IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in perinuclear region of cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm midpiece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sperm microtubule inner protein 6
    Names
    ciliated bronchial epithelial protein 1
    ciliated bronchial epithelium 1
    likely ortholog of H. sapiens chromosome 9 open reading frame 24 (C9orf24)
    spermatid-specific manchette-related protein 1
    testes development-related NYD-SP22
    testis development protein NYD-SP22

    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_001048005.1 → NP_001041470.1  sperm microtubule inner protein 6 isoform 1

      See identical proteins and their annotated locations for NP_001041470.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AB231294, BU700151, BU939732
      Consensus CDS
      CCDS38717.1
      UniProtKB/Swiss-Prot
      Q0GC36, Q2MH31, Q9D1B3
      Related
      ENSMUSP00000030152.7, ENSMUST00000030152.13
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 260
      SMRP1; Spermatid-specific manchette-related protein 1

    2. NM_001253777.1 → NP_001240706.1  sperm microtubule inner protein 6 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct and longer C-terminus, compared to isoform 1.
      Source sequence(s)
      AL831723
      UniProtKB/Swiss-Prot
      Q2MH31
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 255
      SMRP1; Spermatid-specific manchette-related protein 1

    3. NM_001253778.1 → NP_001240707.1  sperm microtubule inner protein 6 isoform 4

      See identical proteins and their annotated locations for NP_001240707.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, and uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL831723
      UniProtKB/Swiss-Prot
      Q2MH31
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 121
      SMRP1; Spermatid-specific manchette-related protein 1

    4. NM_001253780.1 → NP_001240709.1  sperm microtubule inner protein 6 isoform 5

      See identical proteins and their annotated locations for NP_001240709.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, and lacks an exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (5) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL831723
      Related
      ENSMUST00000123865.8
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 21
      SMRP1; Spermatid-specific manchette-related protein 1

    5. NM_001253788.1 → NP_001240717.1  sperm microtubule inner protein 6 isoform 6

      See identical proteins and their annotated locations for NP_001240717.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (6) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AL831723
      Consensus CDS
      CCDS57265.1
      UniProtKB/TrEMBL
      A2ANN9
      Related
      ENSMUSP00000092744.5, ENSMUST00000095126.5
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 155
      SMRP1; Spermatid-specific manchette-related protein 1

    6. NM_028624.1 → NP_082900.1  sperm microtubule inner protein 6 isoform 2

      See identical proteins and their annotated locations for NP_082900.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK003742, BU700151, CA463601
      UniProtKB/Swiss-Prot
      Q2MH31
      Related
      ENSMUST00000124019.8
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 126
      SMRP1; Spermatid-specific manchette-related protein 1

    RNA

    1. NR_045549.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site at an internal exon, compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL831723

    2. NR_045551.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains alternate 5' exon structure, and uses an alternate splice site at an internal exon, compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 2, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL831723
      Related
      ENSMUST00000123356.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      41505005..41517333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006538307.5 → XP_006538370.1  sperm microtubule inner protein 6 isoform X1

      UniProtKB/TrEMBL
      F7CUE2
      Related
      ENSMUSP00000122537.2, ENSMUST00000125303.8
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 205
      SMRP1; Spermatid-specific manchette-related protein 1

    2. XM_030253836.1 → XP_030109696.1  sperm microtubule inner protein 6 isoform X3

      Conserved Domains (1) summary
      pfam15181
      Location:1 → 210
      SMRP1; Spermatid-specific manchette-related protein 1

    3. XM_006538308.4 → XP_006538371.1  sperm microtubule inner protein 6 isoform X2

      UniProtKB/TrEMBL
      F7CUE2
      Conserved Domains (1) summary
      pfam15181
      Location:22 → 199
      SMRP1; Spermatid-specific manchette-related protein 1

    4. XM_030253837.2 → XP_030109697.1  sperm microtubule inner protein 6 isoform X4

      Conserved Domains (1) summary
      pfam15181
      Location:22 → 204
      SMRP1; Spermatid-specific manchette-related protein 1
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2MH31.1 GenPept UniProtKB/Swiss-Prot:Q2MH31

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