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    SPMIP7 sperm microtubule inner protein 7 [ Homo sapiens (human) ]

    Gene ID: 100130988, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPMIP7provided by HGNC
    Official Full Name
    sperm microtubule inner protein 7provided by HGNC
    Primary source
    HGNC:HGNC:22564
    See related
    Ensembl:ENSG00000164500 AllianceGenome:HGNC:22564
    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
    C7orf72; SPATA48
    Summary
    Predicted to be involved in spermatogenesis. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 1.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See SPMIP7 in Genome Data Viewer
    Location:
    7p12.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (50095883..50159256)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (50257048..50320459)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (50135479..50198852)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene zona pellucida binding protein Neighboring gene G protein nucleolar 2 pseudogene 1 Neighboring gene MPRA-validated peak6516 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25990 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:50111360-50111860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18176 Neighboring gene uncharacterized LOC124901630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50246159-50247088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50251182-50251682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50251683-50252183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50342269-50342770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50354096-50354596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50356151-50356651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26000 Neighboring gene conserved acetylation island sequence 3 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50427949-50428468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:50428469-50428986 Neighboring gene IKAROS family zinc finger 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:50446466-50446972 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:50446973-50447478 Neighboring gene uncharacterized LOC124901631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:50477534-50478034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26007 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:50488572-50489105 Neighboring gene RNA, U6 small nuclear 1091, pseudogene

    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. Spermatogenesis-associated 48 is essential for spermatogenesis in mice. Zhang J, et al. Andrologia, 2018 Aug. PMID 29700843
    2. Fidgetin-like1 is a strong candidate for a dynamic impairment of male meiosis leading to reduced testis weight in mice. L'Hôte D, et al. PLoS One, 2011. PMID 22110678, 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 of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
    5. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In humans and mice with azoospermia, expression of SPATA48 disappeared in the testis.
      Title: Spermatogenesis-associated 48 is essential for spermatogenesis in mice.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    protein SPMIP7
    Names
    spermatogenesis associated 48
    spermatogenesis-associated protein 48
    uncharacterized protein C7orf72

    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_001161834.3 → NP_001155306.3  protein SPMIP7

      Status: VALIDATED

      Source sequence(s)
      AC020743, AC034148
      Consensus CDS
      CCDS47585.1
      UniProtKB/Swiss-Prot
      A4D263, A6NDX9
      Related
      ENSP00000297001.7, ENST00000297001.7
      Conserved Domains (1) summary
      pfam15073
      Location:307 → 434
      DUF4540; Domain of unknown function (DUF4540)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      50095883..50159256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515052.2 → XP_011513354.1  protein SPMIP7 isoform X1

      Conserved Domains (1) summary
      pfam15073
      Location:307 → 420
      DUF4540; Domain of unknown function (DUF4540)

    2. XM_011515053.3 → XP_011513355.1  protein SPMIP7 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      50257048..50320459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356940.1 → XP_054212915.1  protein SPMIP7 isoform X1

    2. XM_054356941.1 → XP_054212916.1  protein SPMIP7 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4D263.2 GenPept UniProtKB/Swiss-Prot:A4D263

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials