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    SPMIP6 sperm microtubule inner protein 6 [ Homo sapiens (human) ]

    Gene ID: 84688, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SPMIP6provided by HGNC
    Official Full Name
    sperm microtubule inner protein 6provided by HGNC
    Primary source
    HGNC:HGNC:19919
    See related
    Ensembl:ENSG00000164972 MIM:619502; AllianceGenome:HGNC:19919
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CBE1; SMRP1; C9orf24; NYD-SP22; bA573M23.4
    Summary
    This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Broad expression in brain (RPKM 5.2), testis (RPKM 5.0) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPMIP6 in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34379019..34397810, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34397509..34416300, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34379017..34397808, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 24 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:34329280-34329787 Neighboring gene nudix hydrolase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34371826-34372326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34372327-34372827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34375663-34376244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34376245-34376825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34380811-34381416 Neighboring gene uncharacterized LOC124902144 Neighboring gene myogenesis regulating glycosidase Neighboring gene family with sequence similarity 219 member A Neighboring gene uncharacterized LOC124902145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34456734-34457234 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr9:34458366-34458906 Neighboring gene dynein axonemal intermediate chain 1 Neighboring gene RN7SK pseudogene 24

    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 development and spermatogenesis-related genes in human and mouse testes using cDNA arrays. Sha J, et al. Mol Hum Reprod, 2002 Jun. PMID 12029067
    2. Expression of ciliated bronchial epithelium 1 during human spermatogenesis. Pleuger C, et al. Fertil Steril, 2017 Jul. PMID 28601408
    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. 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
    5. Chronological expression of Ciliated Bronchial Epithelium 1 during pulmonary development. Haitchi HM, et al. Eur Respir J, 2009 May. PMID 19213785

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our data strongly suggest an influence of CBE1 in ciliogenesis in spermatids due to the localization at the microtubules of the elongating spermatids, indicating a role in the intramanchette and/or intraflagellar transport mechanism.
      Title: Expression of ciliated bronchial epithelium 1 during human spermatogenesis.
    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. CBE1 may play an important role in the differentiation and/or function of ciliated cells in human airways
      Title: Characterization of ciliated bronchial epithelium 1, a ciliated cell-associated gene induced during mucociliary differentiation.
    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

    • MGC32921, MGC33614

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    sperm microtubule inner protein 6
    Names
    ciliated bronchial epithelial protein 1
    ciliated bronchial epithelium 1
    spermatid-specific manchette-related protein 1
    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_001252195.2 → NP_001239124.1  sperm microtubule inner protein 6 isoform 4

      See identical proteins and their annotated locations for NP_001239124.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR, translation initiation at a downstream, in-frame start codon and a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA338648, BC029484, BI561111
      Consensus CDS
      CCDS59121.1
      UniProtKB/Swiss-Prot
      Q8NCR6
      Related
      ENSP00000368422.1, ENST00000379127.1
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 104
      SMRP1; Spermatid-specific manchette-related protein 1

    2. NM_001410962.1 → NP_001397891.1  sperm microtubule inner protein 6 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).
      Source sequence(s)
      AL356494
      Consensus CDS
      CCDS94398.1
      UniProtKB/TrEMBL
      A0A8I5KRB0
      Related
      ENSP00000510469.1, ENST00000692548.1

    3. NM_032596.4 → NP_115985.2  sperm microtubule inner protein 6 isoform 1

      See identical proteins and their annotated locations for NP_115985.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AK058087, BC029484
      Consensus CDS
      CCDS6554.1
      UniProtKB/Swiss-Prot
      Q5T598, Q5T599, Q5T5A0, Q8N9G4, Q8NCR6, Q96KD1, Q96LN1
      Related
      ENSP00000297623.2, ENST00000297623.7
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 249
      SMRP1; Spermatid-specific manchette-related protein 1

    4. NM_147168.2 → NP_671697.1  sperm microtubule inner protein 6 isoform 2

      See identical proteins and their annotated locations for NP_671697.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AA338648, BC029484, CB854584
      Consensus CDS
      CCDS6555.1
      UniProtKB/Swiss-Prot
      Q8NCR6
      Related
      ENSP00000368428.3, ENST00000379133.7
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 127
      SMRP1; Spermatid-specific manchette-related protein 1

    5. NM_147169.3 → NP_671698.1  sperm microtubule inner protein 6 isoform 3

      See identical proteins and their annotated locations for NP_671698.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR, translation initiation at a downstream, in-frame start codon and a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA338648, AF367474, BC029484
      Consensus CDS
      CCDS6553.1
      UniProtKB/Swiss-Prot
      Q8NCR6
      Related
      ENSP00000368421.3, ENST00000379126.7
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 56
      SMRP1; Spermatid-specific manchette-related protein 1

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      34379019..34397810 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518055.3 → XP_011516357.1  sperm microtubule inner protein 6 isoform X1

      See identical proteins and their annotated locations for XP_011516357.1

      UniProtKB/Swiss-Prot
      Q8NCR6
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 104
      SMRP1; Spermatid-specific manchette-related protein 1

    2. XM_005251618.5 → XP_005251675.1  sperm microtubule inner protein 6 isoform X1

      See identical proteins and their annotated locations for XP_005251675.1

      UniProtKB/Swiss-Prot
      Q8NCR6
      Conserved Domains (1) summary
      pfam15181
      Location:1 → 104
      SMRP1; Spermatid-specific manchette-related protein 1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      34397509..34416300 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364021.1 → XP_054219996.1  sperm microtubule inner protein 6 isoform X1

    2. XM_054364020.1 → XP_054219995.1  sperm microtubule inner protein 6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCR6.2 GenPept UniProtKB/Swiss-Prot:Q8NCR6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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