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    SPMIP9 sperm microtubule inner protein 9 [ Homo sapiens (human) ]

    Gene ID: 200523, updated on 11-Apr-2024

    Summary

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    Official Symbol
    SPMIP9provided by HGNC
    Official Full Name
    sperm microtubule inner protein 9provided by HGNC
    Primary source
    HGNC:HGNC:26341
    See related
    Ensembl:ENSG00000172073 MIM:619676; AllianceGenome:HGNC:26341
    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
    TEX37; TSC21; C2orf51
    Summary
    Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 20.4) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (88524649..88529585)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (88536629..88541591)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (88824167..88829103)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:88741313-88741813 Neighboring gene RPL38 pseudogene 6 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:88743237-88743870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:88743871-88744504 Neighboring gene forkhead box I3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:88803591-88804790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:88811519-88812020 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:88817004-88817504 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:88817505-88818005 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:88837459-88838658 Neighboring gene uncharacterized LOC101928371 Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:88899203-88900402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:88926077-88926756 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:88926757-88927436 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:88927437-88928116 Neighboring gene EIF2AK3 divergent transcript

    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. Identification and characteristics of a novel testis-specific gene, Tsc21, in mice and human. Yu Z, et al. Mol Biol Rep, 2007 Jun. PMID 17091336
    2. Human Spermatozoa as a Model for Detecting Missing Proteins in the Context of the Chromosome-Centric Human Proteome Project. Jumeau F, et al. J Proteome Res, 2015 Sep 4. PMID 26168773
    3. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
    4. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of a novel gene, Tsc21, exclusively expressed in testes.
      Title: Identification and characteristics of a novel testis-specific gene, Tsc21, in mice and human.
    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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    Homology

    Clone Names

    • FLJ25369

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axonemal A tubule inner sheath IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein SPMIP9
    Names
    Testis-Specific Conserved gene 21kDa
    protein TSC21
    testis expressed 37
    testis tissue sperm-binding protein Li 93mP
    testis-expressed sequence 37 protein
    testis-specific conserved protein of 21 kDa

    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_152670.3 → NP_689883.1  protein SPMIP9

      See identical proteins and their annotated locations for NP_689883.1

      Status: VALIDATED

      Source sequence(s)
      AC104134, AK058098, AW104588
      Consensus CDS
      CCDS2003.1
      UniProtKB/Swiss-Prot
      Q96LM6
      UniProtKB/TrEMBL
      A0A140VK60
      Related
      ENSP00000307142.3, ENST00000303254.4
      Conserved Domains (1) summary
      pfam15217
      Location:1 → 180
      TSC21; TSC21 family

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      88524649..88529585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532692.3 → XP_011530994.1  protein SPMIP9 isoform X1

      See identical proteins and their annotated locations for XP_011530994.1

      UniProtKB/Swiss-Prot
      Q96LM6
      UniProtKB/TrEMBL
      A0A140VK60
      Conserved Domains (1) summary
      pfam15217
      Location:1 → 180
      TSC21; TSC21 family

    2. XM_011532691.2 → XP_011530993.1  protein SPMIP9 isoform X1

      See identical proteins and their annotated locations for XP_011530993.1

      UniProtKB/Swiss-Prot
      Q96LM6
      UniProtKB/TrEMBL
      A0A140VK60
      Conserved Domains (1) summary
      pfam15217
      Location:1 → 180
      TSC21; TSC21 family

    3. XM_005264188.4 → XP_005264245.3  protein SPMIP9 isoform X1

      UniProtKB/Swiss-Prot
      Q96LM6
      UniProtKB/TrEMBL
      A0A140VK60
      Conserved Domains (1) summary
      pfam15217
      Location:1 → 180
      TSC21; TSC21 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      88536629..88541591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340963.1 → XP_054196938.1  protein SPMIP9 isoform X1

      UniProtKB/Swiss-Prot
      Q96LM6
      UniProtKB/TrEMBL
      A0A140VK60

    2. XM_054340965.1 → XP_054196940.1  protein SPMIP9 isoform X1

      UniProtKB/Swiss-Prot
      Q96LM6
      UniProtKB/TrEMBL
      A0A140VK60

    3. XM_054340964.1 → XP_054196939.1  protein SPMIP9 isoform X1

      UniProtKB/Swiss-Prot
      Q96LM6
      UniProtKB/TrEMBL
      A0A140VK60
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LM6.1 GenPept UniProtKB/Swiss-Prot:Q96LM6

    Gene LinkOut

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

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