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SPATA24 spermatogenesis associated 24 [ Homo sapiens (human) ]

Gene ID: 202051, updated on 3-Apr-2024

Summary

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Official Symbol
SPATA24provided by HGNC
Official Full Name
spermatogenesis associated 24provided by HGNC
Primary source
HGNC:HGNC:27322
See related
Ensembl:ENSG00000170469 AllianceGenome:HGNC:27322
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
T6441; CCDC161
Summary
Predicted to enable DNA binding activity and identical protein binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 10.5), prostate (RPKM 2.2) and 14 other tissues See more
Orthologs
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Genomic context

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Location:
5q31.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (139392500..139404089, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (139922301..139929892, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138732456..138739778, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene poly(A) binding protein interacting protein 2 Neighboring gene solute carrier family 23 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138716531-138717471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138723739-138724286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138724287-138724834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138724835-138725382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16409 Neighboring gene Sharpr-MPRA regulatory region 996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16411 Neighboring gene marginal zone B and B1 cell specific protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23230 Neighboring gene proline rich basic protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:138739142-138739715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:138739716-138740288 Neighboring gene DnaJ heat shock protein family (Hsp40) member C18 Neighboring gene uncharacterized LOC124901082 Neighboring gene NANOG hESC enhancer GRCh37_chr5:138755520-138756025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138773284-138773784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16413 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:138775085-138775584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23232 Neighboring gene RNA, U5B small nuclear 4, pseudogene

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. Cloning and characterization of a novel spermiogenesis-related gene, T6441, in rat testis. Song XX, et al. Front Biosci, 2006 Jan 1. PMID 16146721
  2. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. Graubert TA, et al. PLoS One, 2009. PMID 19240791, Free PMC Article
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
  4. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Sang L, et al. Cell, 2011 May 13. PMID 21565611, Free PMC Article
  5. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.
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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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
spermatogenesis-associated protein 24
Names
coiled-coil domain containing 161
testis protein T6441 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_194296.2 → NP_919272.1  spermatogenesis-associated protein 24

    See identical proteins and their annotated locations for NP_919272.1

    Status: VALIDATED

    Source sequence(s)
    AA399058, AC135457, BC040037, BM785501
    Consensus CDS
    CCDS47274.1
    UniProtKB/Swiss-Prot
    Q86W54
    Related
    ENSP00000414920.2, ENST00000450845.7
    Conserved Domains (1) summary
    pfam15175
    Location:25 → 191
    SPATA24; Spermatogenesis-associated protein 24

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    139392500..139404089 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271916.5 → XP_005271973.1  spermatogenesis-associated protein 24 isoform X1

    Conserved Domains (3) summary
    pfam13863
    Location:50 → 161
    DUF4200; Domain of unknown function (DUF4200)
    pfam15175
    Location:25 → 162
    SPATA24; Spermatogenesis-associated protein 24
    pfam16006
    Location:130 → 220
    NUSAP; Nucleolar and spindle-associated protein

  2. XM_011543253.3 → XP_011541555.1  spermatogenesis-associated protein 24 isoform X2

    See identical proteins and their annotated locations for XP_011541555.1

    Conserved Domains (3) summary
    pfam13863
    Location:11 → 122
    DUF4200; Domain of unknown function (DUF4200)
    pfam15175
    Location:1 → 123
    SPATA24; Spermatogenesis-associated protein 24
    pfam16006
    Location:91 → 181
    NUSAP; Nucleolar and spindle-associated protein

  3. XM_011543252.3 → XP_011541554.1  spermatogenesis-associated protein 24 isoform X2

    See identical proteins and their annotated locations for XP_011541554.1

    Conserved Domains (3) summary
    pfam13863
    Location:11 → 122
    DUF4200; Domain of unknown function (DUF4200)
    pfam15175
    Location:1 → 123
    SPATA24; Spermatogenesis-associated protein 24
    pfam16006
    Location:91 → 181
    NUSAP; Nucleolar and spindle-associated protein

  4. XM_011543254.3 → XP_011541556.1  spermatogenesis-associated protein 24 isoform X3

    UniProtKB/TrEMBL
    H0Y992
    Conserved Domains (1) summary
    pfam15175
    Location:25 → 134
    SPATA24; Spermatogenesis-associated protein 24

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    139922301..139929892 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351971.1 → XP_054207946.1  spermatogenesis-associated protein 24 isoform X1

  2. XM_054351972.1 → XP_054207947.1  spermatogenesis-associated protein 24 isoform X2

  3. XM_054351973.1 → XP_054207948.1  spermatogenesis-associated protein 24 isoform X2

  4. XM_054351974.1 → XP_054207949.1  spermatogenesis-associated protein 24 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86W54.2 GenPept UniProtKB/Swiss-Prot:Q86W54

Gene LinkOut

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