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

Gene ID: 374739, updated on 11-Apr-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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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

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