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

Gene ID: 11092, updated on 5-Mar-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
Predicted to enable calcium-dependent protein binding activity. Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
9q34.13
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132878344..132890314)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145090157..145104158)
105.20220307 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 (23) 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)

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

  • 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 
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 
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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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_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
    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

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