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    SPMIP4 sperm microtubule inner protein 4 [ Homo sapiens (human) ]

    Gene ID: 136895, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPMIP4provided by HGNC
    Official Full Name
    sperm microtubule inner protein 4provided by HGNC
    Primary source
    HGNC:HGNC:21722
    See related
    Ensembl:ENSG00000153790 MIM:616071; AllianceGenome:HGNC:21722
    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
    C7orf31
    Summary
    Located in centrosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 25.6), adrenal (RPKM 2.5) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPMIP4 in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (25125772..25180354, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (25261042..25315624, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (25174311..25219973, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25760 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:24990225-24990724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25761 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:25010975-25011630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:25068437-25068938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:25098668-25099168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:25163804-25164348 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:25164349-25164892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25768 Neighboring gene uncharacterized LOC124901603 Neighboring gene cytochrome c, somatic Neighboring gene uncharacterized LOC124901602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18024 Neighboring gene uncharacterized LOC105375191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:25227953-25228454 Neighboring gene ribosomal protein L7a pseudogene 41

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. LINGO1, C7orf31 and VEGFA are prognostic genes of primary glioblastoma: analysis of gene expression microarray. Liu S, et al. Neoplasma, 2018. PMID 30064229
    2. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. Firat-Karalar EN, et al. J Cell Sci, 2014 Oct 1. PMID 25074808, 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. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LINGO1 might be a positive primary glioblastoma prognostic gene and C7orf31 and VEGFA might be negative prognosticators.
      Title: LINGO1, C7orf31 and VEGFA are prognostic genes of primary glioblastoma: analysis of gene expression microarray.
    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm 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-associated microtubule inner protein 4
    Names
    sperm associated microtubule inner protein 4
    uncharacterized protein C7orf31

    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_001371351.1 → NP_001358280.1  sperm-associated microtubule inner protein 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AC004129
      Consensus CDS
      CCDS5394.1
      UniProtKB/Swiss-Prot
      A4D165, Q6MZV8, Q6P989, Q7LE28, Q86XK1, Q8N1H5, Q8N865, Q96BN4
      Conserved Domains (1) summary
      pfam15093
      Location:1 → 283
      DUF4555; Domain of unknown function (DUF4555)

    2. NM_001371352.1 → NP_001358281.1  sperm-associated microtubule inner protein 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AC004129
      Consensus CDS
      CCDS5394.1
      UniProtKB/Swiss-Prot
      A4D165, Q6MZV8, Q6P989, Q7LE28, Q86XK1, Q8N1H5, Q8N865, Q96BN4
      Related
      ENSP00000386604.1, ENST00000409280.5
      Conserved Domains (1) summary
      pfam15093
      Location:1 → 283
      DUF4555; Domain of unknown function (DUF4555)

    3. NM_138811.4 → NP_620166.3  sperm-associated microtubule inner protein 4

      See identical proteins and their annotated locations for NP_620166.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AC004129, BC043269, BC060879, BI830207, BX640851
      Consensus CDS
      CCDS5394.1
      UniProtKB/Swiss-Prot
      A4D165, Q6MZV8, Q6P989, Q7LE28, Q86XK1, Q8N1H5, Q8N865, Q96BN4
      Related
      ENSP00000283905.3, ENST00000283905.8
      Conserved Domains (1) summary
      pfam15093
      Location:1 → 283
      DUF4555; Domain of unknown function (DUF4555)

    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
      25125772..25180354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419891.1 → XP_047275847.1  sperm-associated microtubule inner protein 4 isoform X2

    2. XM_011515125.3 → XP_011513427.1  sperm-associated microtubule inner protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011513427.1

      UniProtKB/Swiss-Prot
      Q8N865
      Conserved Domains (1) summary
      pfam15093
      Location:1 → 73
      DUF4555; Domain of unknown function (DUF4555)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      25261042..25315624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357265.1 → XP_054213240.1  sperm-associated microtubule inner protein 4 isoform X2

    2. XM_054357264.1 → XP_054213239.1  sperm-associated microtubule inner protein 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N865.3 GenPept UniProtKB/Swiss-Prot:Q8N865

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