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    SPMIP8 sperm microtubule inner protein 8 [ Homo sapiens (human) ]

    Gene ID: 374739, updated on 17-Jun-2024

    Summary

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    Official Symbol
    SPMIP8provided by HGNC
    Official Full Name
    sperm microtubule inner protein 8provided by HGNC
    Primary source
    HGNC:HGNC:33745
    See related
    Ensembl:ENSG00000159648 MIM:610264; AllianceGenome:HGNC:33745
    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
    TEPP
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 1.8), thyroid (RPKM 0.7) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPMIP8 in Genome Data Viewer
    Location:
    16q21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (57976544..57988116)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (63771815..63783405)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (58010448..58022020)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene kinesin family member C3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:57869467-57869968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:57869969-57870468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57871284-57872020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57879667-57880550 Neighboring gene RNA, U6 small nuclear 20, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57880551-57881432 Neighboring gene NANOG hESC enhancer GRCh37_chr16:57907038-57907565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57917491-57918038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57918039-57918586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7538 Neighboring gene cyclic nucleotide gated channel subunit beta 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57945302-57946008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57972707-57973534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57973535-57974362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57998489-57998988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7540 Neighboring gene Sharpr-MPRA regulatory region 3942 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10920 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:58046115-58046647 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:58046648-58047179 Neighboring gene zinc finger protein 319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58058267-58058854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58058855-58059440 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:58059673-58060222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:58060773-58061322 Neighboring gene U6 snRNA biogenesis phosphodiesterase 1 Neighboring gene matrix metallopeptidase 15

    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. Molecular evolution of TEPP protein genes in metazoans. Hahn Y. Biochem Genet, 2009 Oct. PMID 19548082
    2. TEPP, a new gene specifically expressed in testis, prostate, and placenta and well conserved in chordates. Bera TK, et al. Biochem Biophys Res Commun, 2003 Dec 26. PMID 14652002
    3. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    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

    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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    Markers

    Homology

    Clone Names

    • MGC129930, MGC129931

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in axonemal A tubule inner sheath IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sperm microtubule inner protein 8
    Names
    testicular tissue protein Li 196
    testis, prostate and placenta expressed
    testis, prostate and placenta-expressed protein
    testis/prostate/placenta-expressed protein

    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_199046.3 → NP_950247.3  sperm microtubule inner protein 8 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC010543, HM005509
      Consensus CDS
      CCDS10790.2
      UniProtKB/TrEMBL
      A0A140VJW9
      Related
      ENSP00000290871.6, ENST00000290871.10

    2. NM_199456.3 → NP_955535.3  sperm microtubule inner protein 8 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC010543, BC104459, HM005509
      Consensus CDS
      CCDS45496.2
      UniProtKB/Swiss-Prot
      Q6URK7, Q6URK8
      Related
      ENSP00000401917.3, ENST00000441824.4

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      57976544..57988116
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434077.1 → XP_047290033.1  sperm microtubule inner protein 8 isoform X2

    2. XM_047434076.1 → XP_047290032.1  sperm microtubule inner protein 8 isoform X1

    3. XM_017023218.2 → XP_016878707.1  sperm microtubule inner protein 8 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      63771815..63783405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380278.1 → XP_054236253.1  sperm microtubule inner protein 8 isoform X1

    2. XM_054380280.1 → XP_054236255.1  sperm microtubule inner protein 8 isoform X2

    3. XM_054380279.1 → XP_054236254.1  sperm microtubule inner protein 8 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6URK8.4 GenPept UniProtKB/Swiss-Prot:Q6URK8

    Gene LinkOut

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

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