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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
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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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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)

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

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