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    STPG3 sperm-tail PG-rich repeat containing 3 [ Homo sapiens (human) ]

    Gene ID: 441476, updated on 5-Mar-2024

    Summary

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    Official Symbol
    STPG3provided by HGNC
    Official Full Name
    sperm-tail PG-rich repeat containing 3provided by HGNC
    Primary source
    HGNC:HGNC:37285
    See related
    Ensembl:ENSG00000197768 AllianceGenome:HGNC:37285
    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
    C9orf173
    Summary
    Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 14.0), duodenum (RPKM 2.2) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STPG3 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (137251286..137253483)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149488954..149491153)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (140145738..140147935)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20599 Neighboring gene tubulin beta 4B class IVb Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140140021-140140814 Neighboring gene ciliary microtubule inner protein 2A Neighboring gene uncharacterized LOC124902316 Neighboring gene STPG3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140149187-140150134 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:140150135-140151082 Neighboring gene negative elongation factor complex member B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140157448-140158007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:140165697-140166196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20606 Neighboring gene torsin family 4 member A

    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. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    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

    See all (6) citations in PubMed

    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

    • FLJ40246

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein STPG3
    Names
    sperm-tail PG-rich repeat-containing protein 3

    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_001004353.4 → NP_001004353.2  protein STPG3 isoform c

      See identical proteins and their annotated locations for NP_001004353.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform c, which has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BX255925
      Consensus CDS
      CCDS48065.1
      UniProtKB/Swiss-Prot
      Q8N7X2
      Related
      ENSP00000391218.1, ENST00000412566.6

    2. NM_001256699.2 → NP_001243628.1  protein STPG3 isoform a

      See identical proteins and their annotated locations for NP_001243628.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BX255925
      Consensus CDS
      CCDS59156.1
      UniProtKB/Swiss-Prot
      A2RU24, B7ZM72, B7ZM76, Q8N7X2, Q8NEA3
      Related
      ENSP00000373583.3, ENST00000388931.7

    3. NM_001256700.2 → NP_001243629.1  protein STPG3 isoform b

      See identical proteins and their annotated locations for NP_001243629.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      BX255925
      Consensus CDS
      CCDS75940.1
      UniProtKB/Swiss-Prot
      Q8N7X2
      Related
      ENSP00000477998.1, ENST00000611378.4

    4. NM_001256701.2 → NP_001243630.1  protein STPG3 isoform d

      See identical proteins and their annotated locations for NP_001243630.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites in the coding region, one of which results in a frameshift, compared to variant 1. It encodes isoform d, which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BX255925
      Consensus CDS
      CCDS75941.1
      UniProtKB/TrEMBL
      B7ZM74
      Related
      ENSP00000482144.1, ENST00000620243.4

    RNA

    1. NR_046339.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate internal exon, and uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC050094, BC144308, BX255925
      Related
      ENST00000622761.1

    2. NR_046340.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses two alternate splice sites compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC033939, BC050094, BC144310
      Related
      ENST00000620716.4

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      137251286..137253483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149488954..149491153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362992.1 → XP_054218967.1  protein STPG3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7X2.2 GenPept UniProtKB/Swiss-Prot:Q8N7X2

    Gene LinkOut

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

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