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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

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