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    SPMIP3 sperm microtubule inner protein 3 [ Homo sapiens (human) ]

    Gene ID: 200159, updated on 17-Sep-2024

    Summary

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    Official Symbol
    SPMIP3provided by HGNC
    Official Full Name
    sperm microtubule inner protein 3provided by HGNC
    Primary source
    HGNC:HGNC:30435
    See related
    Ensembl:ENSG00000173728 AllianceGenome:HGNC:30435
    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
    C1orf100
    Expression
    Restricted expression toward testis (RPKM 3.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See SPMIP3 in Genome Data Viewer
    Location:
    1q44
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244352635..244389663)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (243768961..243806036)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (244515937..244552965)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373261 Neighboring gene uncharacterized LOC105373260 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:244364602-244365102 Neighboring gene uncharacterized LOC105373262 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:244402369-244403568 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:244436364-244436590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2837 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:244486677-244487635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2838 Neighboring gene Sharpr-MPRA regulatory regions 872 and 4511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2839 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:244517816-244518334 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:244524996-244525821 Neighboring gene TGFB induced factor homeobox 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2014 Neighboring gene adenylosuccinate synthase 2 Neighboring gene catsper channel auxiliary subunit epsilon

    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. Genome-wide association study of the age of onset of childhood asthma. Forno E, et al. J Allergy Clin Immunol, 2012 Jul. PMID 22560479, Free PMC Article
    2. Genome-wide meta-analyses of smoking behaviors in African Americans. David SP, et al. Transl Psychiatry, 2012 May 22. PMID 22832964, Free PMC Article
    3. Structural specializations of the sperm tail. Leung MR, et al. Cell, 2023 Jun 22. PMID 37327785, Free PMC Article
    4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of the age of onset of childhood asthma.
    EBI GWAS Catalog
    Genome-wide meta-analyses of smoking behaviors in African Americans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    protein SPMIP3
    Names
    sperm associated microtubule inner protein 3
    uncharacterized protein C1orf100

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001012970.3 → NP_001012988.1  protein SPMIP3 isoform 1

      See identical proteins and their annotated locations for NP_001012988.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL645465, BC054479, BX099227, HY055397
      Consensus CDS
      CCDS31079.1
      UniProtKB/Swiss-Prot
      Q5SVJ3, Q5SVJ4
      Related
      ENSP00000311218.4, ENST00000308105.5

    2. NM_001276348.2 → NP_001263277.1  protein SPMIP3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL645465, BC054479
      Consensus CDS
      CCDS60465.1
      UniProtKB/Swiss-Prot
      Q5SVJ3
      Related
      ENSP00000355495.1, ENST00000366537.5

    3. NM_001276349.2 → NP_001263278.1  protein SPMIP3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate 3' exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL645465, BC054479, BX099227

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      244352635..244389663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000571.3 → XP_016856060.1  protein SPMIP3 isoform X1

      Conserved Domains (1) summary
      pfam17670
      Location:15 → 163
      DUF5530; Family of unknown function (DUF5530)

    2. XM_011544124.3 → XP_011542426.1  protein SPMIP3 isoform X2

    3. XM_011544129.4 → XP_011542431.1  protein SPMIP3 isoform X4

    4. XM_011544130.3 → XP_011542432.1  protein SPMIP3 isoform X5

    5. XM_011544125.3 → XP_011542427.1  protein SPMIP3 isoform X3

      See identical proteins and their annotated locations for XP_011542427.1

    6. XM_011544128.3 → XP_011542430.1  protein SPMIP3 isoform X3

      See identical proteins and their annotated locations for XP_011542430.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      243768961..243806036
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334949.1 → XP_054190924.1  protein SPMIP3 isoform X1

    2. XM_054334950.1 → XP_054190925.1  protein SPMIP3 isoform X2

    3. XM_054334953.1 → XP_054190928.1  protein SPMIP3 isoform X4

    4. XM_054334954.1 → XP_054190929.1  protein SPMIP3 isoform X5

    5. XM_054334951.1 → XP_054190926.1  protein SPMIP3 isoform X3

    6. XM_054334952.1 → XP_054190927.1  protein SPMIP3 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SVJ3.1 GenPept UniProtKB/Swiss-Prot:Q5SVJ3

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