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SPATA1 spermatogenesis associated 1 [ Homo sapiens (human) ]

Gene ID: 100505741, updated on 3-Apr-2024

Summary

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Official Symbol
SPATA1provided by HGNC
Official Full Name
spermatogenesis associated 1provided by HGNC
Primary source
HGNC:HGNC:14682
See related
Ensembl:ENSG00000122432 AllianceGenome:HGNC:14682
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
SP-2; SPAP1
Expression
Broad expression in colon (RPKM 6.0), testis (RPKM 4.7) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
1p22.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (84506386..84567379)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (84346767..84407753)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (84972069..85033062)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5400 Neighboring gene deoxyribonuclease 2 beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1250 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:84944610-84945170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1252 Neighboring gene ribosome production factor 1 homolog Neighboring gene NANOG hESC enhancer GRCh37_chr1:84969365-84969870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1020 Neighboring gene G protein subunit gamma 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1255 Neighboring gene chitobiase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1021 Neighboring gene uncharacterized LOC105378819 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:85044029-85044228 Neighboring gene long intergenic non-protein coding RNA 1461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1023

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. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
  2. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  3. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  4. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901
  5. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article

See all (11) 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

  • MGC157666

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in acrosomal vesicle ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
spermatogenesis-associated protein 1
Names
sperm-specific protein SP-2

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_001310156.2 → NP_001297085.2  spermatogenesis-associated protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL359762
    Conserved Domains (1) summary
    pfam15743
    Location:279 → 428
    SPATA1_C; Spermatogenesis-associated C-terminus

  2. NM_001397487.1 → NP_001384416.1  spermatogenesis-associated protein 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL359762
    Consensus CDS
    CCDS90993.1
    UniProtKB/TrEMBL
    A0A8V8TNU4
    Related
    ENSP00000514414.1, ENST00000699524.1

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    84506386..84567379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542514.3 → XP_011540816.1  spermatogenesis-associated protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011540816.1

    Conserved Domains (1) summary
    pfam15743
    Location:297 → 408
    SPATA1_C; Spermatogenesis-associated C-terminus

  2. XM_024446289.2 → XP_024302057.1  spermatogenesis-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A0A1W2PQB0, A0PJU9, Q0VDJ9, Q0VDK0, Q5VX52, Q6P386, Q9HAR4
    Related
    ENST00000490879.9
    Conserved Domains (1) summary
    pfam15743
    Location:301 → 450
    SPATA1_C; Spermatogenesis-associated C-terminus

  3. XM_011542517.2 → XP_011540819.1  spermatogenesis-associated protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011540819.1

    UniProtKB/TrEMBL
    A0A8V8TPQ3

  4. XM_011542516.2 → XP_011540818.1  spermatogenesis-associated protein 1 isoform X4

    See identical proteins and their annotated locations for XP_011540818.1

    UniProtKB/TrEMBL
    A0A8V8TPQ3

  5. XM_047416131.1 → XP_047272087.1  spermatogenesis-associated protein 1 isoform X6

  6. XM_047416077.1 → XP_047272033.1  spermatogenesis-associated protein 1 isoform X4

  7. XM_047416194.1 → XP_047272150.1  spermatogenesis-associated protein 1 isoform X7

  8. XM_011542519.3 → XP_011540821.1  spermatogenesis-associated protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011540821.1

  9. XM_011542515.3 → XP_011540817.1  spermatogenesis-associated protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011540817.1

  10. XM_011542522.3 → XP_011540824.1  spermatogenesis-associated protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011540824.1

    UniProtKB/TrEMBL
    A0A8V8TPQ3
    Related
    ENSP00000514413.1, ENST00000697276.1

RNA

  1. XR_007057962.1 RNA Sequence

  2. XR_007057965.1 RNA Sequence

  3. XR_007057967.1 RNA Sequence

  4. XR_947545.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    84346767..84407753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333693.1 → XP_054189668.1  spermatogenesis-associated protein 1 isoform X2

  2. XM_054333692.1 → XP_054189667.1  spermatogenesis-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A0A1W2PQB0, A0PJU9, Q0VDJ9, Q0VDK0, Q5VX52, Q6P386, Q9HAR4

  3. XM_054333697.1 → XP_054189672.1  spermatogenesis-associated protein 1 isoform X4

  4. XM_054333695.1 → XP_054189670.1  spermatogenesis-associated protein 1 isoform X4

  5. XM_054333699.1 → XP_054189674.1  spermatogenesis-associated protein 1 isoform X6

  6. XM_054333696.1 → XP_054189671.1  spermatogenesis-associated protein 1 isoform X4

  7. XM_054333700.1 → XP_054189675.1  spermatogenesis-associated protein 1 isoform X7

  8. XM_054333698.1 → XP_054189673.1  spermatogenesis-associated protein 1 isoform X5

  9. XM_054333694.1 → XP_054189669.1  spermatogenesis-associated protein 1 isoform X3

  10. XM_054333701.1 → XP_054189676.1  spermatogenesis-associated protein 1 isoform X8

RNA

  1. XR_008485857.1 RNA Sequence

  2. XR_008485858.1 RNA Sequence

  3. XR_008485859.1 RNA Sequence

  4. XR_008485860.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001081472.1: Suppressed sequence

    Description
    NM_001081472.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

  2. NM_022354.1: Suppressed sequence

    Description
    NM_022354.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VX52.4 GenPept UniProtKB/Swiss-Prot:Q5VX52

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