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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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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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