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

Gene ID: 200159, updated on 5-Mar-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
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Genomic context

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Location:
1q44
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (244352635..244389663)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (243768961..243806036)
105.20220307 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
  • 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)

Genotypes

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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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_2023_10

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

Gene LinkOut

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