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    SPACA9 sperm acrosome associated 9 [ Homo sapiens (human) ]

    Gene ID: 11092, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPACA9provided by HGNC
    Official Full Name
    sperm acrosome associated 9provided by HGNC
    Primary source
    HGNC:HGNC:1367
    See related
    Ensembl:ENSG00000165698 MIM:618552; AllianceGenome:HGNC:1367
    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
    Mast; C9orf9
    Summary
    Enables microtubule binding activity. Involved in axoneme assembly. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 17.0), thyroid (RPKM 3.5) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPACA9 in Genome Data Viewer
    Location:
    9q34.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132878344..132890314)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145090157..145104158)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135753731..135765588)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135545227-135546094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29221 Neighboring gene general transcription factor IIIC subunit 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135597764-135598270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135599285-135599790 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135608498-135608998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135608999-135609499 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:135620695-135621194 Neighboring gene adenylate kinase 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29222 Neighboring gene Sharpr-MPRA regulatory region 7884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:135683689-135684190 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:135711155-135711317 Neighboring gene U6 spliceosomal RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr9:135729901-135730092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135731149-135731650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135731651-135732150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135732573-135733346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135738096-135738827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29223 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:135778941-135779625 Neighboring gene TSC complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20439 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135819875-135820608 Neighboring gene microRNA 548aw Neighboring gene growth factor independent 1B transcriptional repressor

    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. Loss of Tumor Suppressor C9orf9 Promotes Metastasis in Colorectal Cancer. Chen E, et al. Biomolecules, 2023 Feb 7. PMID 36830681, Free PMC Article
    2. A mouse protein that localizes to acrosome and sperm tail is regulated by Y-chromosome. Bhattacharya R, et al. BMC Cell Biol, 2013 Nov 20. PMID 24256100, Free PMC Article
    3. MTR120/KIAA1383, a novel microtubule-associated protein, promotes microtubule stability and ensures cytokinesis. Fong KW, et al. J Cell Sci, 2013 Feb 1. PMID 23264731, Free PMC Article
    4. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
    5. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. Casabonne D, et al. Haematologica, 2011 Feb. PMID 21048031, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of Tumor Suppressor C9orf9 Promotes Metastasis in Colorectal Cancer.
      Title: Loss of Tumor Suppressor C9orf9 Promotes Metastasis in Colorectal Cancer.
    2. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules.
      Title: SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules.
    3. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
    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

    Clone Names

    • FLJ26879

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axoneme assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in flagellated sperm motility IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in acrosomal vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axonemal microtubule doublet inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary base IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    sperm acrosome-associated protein 9
    Names
    Rsb66 homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001316897.2 → NP_001303826.1  sperm acrosome-associated protein 9 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK075259, BC012940
      Consensus CDS
      CCDS83434.1
      UniProtKB/Swiss-Prot
      Q96E40, Q9UGQ0
      Related
      ENSP00000348659.5, ENST00000356311.10
      Conserved Domains (1) summary
      pfam15120
      Location:1 → 163
      DUF4561; Domain of unknown function (DUF4561)

    2. NM_001316898.2 → NP_001303827.1  sperm acrosome-associated protein 9 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      BC012940, DA134573
      Consensus CDS
      CCDS83434.1
      UniProtKB/Swiss-Prot
      Q96E40, Q9UGQ0
      Related
      ENSP00000361209.3, ENST00000372136.7
      Conserved Domains (1) summary
      pfam15120
      Location:1 → 163
      DUF4561; Domain of unknown function (DUF4561)

    3. NM_001316900.2 → NP_001303829.1  sperm acrosome-associated protein 9 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate segment in the 3' end compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL445645, BC012940, CK906174, CK906175, HY024188
      UniProtKB/Swiss-Prot
      Q96E40
      Conserved Domains (1) summary
      pfam15120
      Location:1 → 164
      DUF4561; Domain of unknown function (DUF4561)

    4. NM_018956.5 → NP_061829.3  sperm acrosome-associated protein 9 isoform b

      See identical proteins and their annotated locations for NP_061829.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate segment in the 3' end compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AJ011375, AL445645, CK906174, HY024188
      Consensus CDS
      CCDS6955.1
      UniProtKB/Swiss-Prot
      Q96E40
      Related
      ENSP00000298546.7, ENST00000350499.6
      Conserved Domains (1) summary
      pfam15120
      Location:1 → 163
      DUF4561; Domain of unknown function (DUF4561)

    RNA

    1. NR_133631.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate first exon and lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      BC012940, DA134573, DA281620

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      132878344..132890314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447397.2 → XP_024303165.1  sperm acrosome-associated protein 9 isoform X3

      Conserved Domains (1) summary
      pfam15120
      Location:1 → 163
      DUF4561; Domain of unknown function (DUF4561)

    2. XM_017014231.2 → XP_016869720.1  sperm acrosome-associated protein 9 isoform X2

    3. XM_047422697.1 → XP_047278653.1  sperm acrosome-associated protein 9 isoform X3

    4. XM_024447396.2 → XP_024303164.1  sperm acrosome-associated protein 9 isoform X1

      UniProtKB/Swiss-Prot
      Q96E40, Q9UGQ0
      Conserved Domains (1) summary
      pfam15120
      Location:1 → 163
      DUF4561; Domain of unknown function (DUF4561)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145090157..145104158
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361856.1 → XP_054217831.1  sperm acrosome-associated protein 9 isoform X3

    2. XM_054361855.1 → XP_054217830.1  sperm acrosome-associated protein 9 isoform X2

    3. XM_054361857.1 → XP_054217832.1  sperm acrosome-associated protein 9 isoform X3

    4. XM_054361854.1 → XP_054217829.1  sperm acrosome-associated protein 9 isoform X1

      UniProtKB/Swiss-Prot
      Q96E40, Q9UGQ0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96E40.1 GenPept UniProtKB/Swiss-Prot:Q96E40

    Gene LinkOut

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

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