Spag1 sperm associated antigen 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spag1provided by MGI
Official Full Name: sperm associated antigen 1provided by MGI
Primary source: MGI:MGI:1349387
See related: Ensembl:ENSMUSG00000037617 AllianceGenome:MGI:1349387
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: tpis
Summary: Predicted to enable GTP binding activity and hydrolase activity. Predicted to be involved in axonemal dynein complex assembly. Predicted to act upstream of or within single fertilization. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 28. Orthologous to human SPAG1 (sperm associated antigen 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in cerebellum adult (RPKM 3.6), testis adult (RPKM 2.9) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 B3.1; 15 14.46 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (36175629..36235767)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (36176229..36235621)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Findings broaden our knowledge of SPAG-1, showing that it exerts a role in oocyte meiotic execution via its involvement in AMPK and MAPK signaling pathways.
Title: The GTPase SPAG-1 orchestrates meiotic program by dictating meiotic resumption and cytoskeleton architecture in mouse oocytes.
The number of PCR positives of sperm mtDNA in two-cell embryos was significantly increased following sperm incubation with anti-tetratricopeptide repeat-containing protein involved in spermatogenesis (tpis).
Title: The sperm mitochondria-specific translocator has a key role in maternal mitochondrial inheritance.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within single fertilization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of protein folding chaperone complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sperm-associated antigen 1

Names: TPR-containing protein involved in spermatogenesis; infertility-related sperm protein Spag-1

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)

NM_001359980.1 → NP_001346909.1 sperm-associated antigen 1 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC121577

Consensus CDS

CCDS37061.1

UniProtKB/Swiss-Prot

Q80ZX8, Q8CCK7, Q9QZJ3, Q9QZJ4

Related

ENSMUSP00000047335.4, ENSMUST00000047348.11

Conserved Domains (4) summary

PLN03088
Location:619 → 795

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:202 → 686

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:217 → 241

TPR; TPR repeat [structural motif]

pfam13877
Location:777 → 866

RPAP3_C; Potential Monad-binding region of RPAP3
NM_001359981.1 → NP_001346910.1 sperm-associated antigen 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 5 and 6 encode the same protein.

Source sequence(s)

AC121577

Conserved Domains (4) summary

PLN03088
Location:631 → 807

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:214 → 698

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:229 → 253

TPR; TPR repeat [structural motif]

pfam13877
Location:789 → 878

RPAP3_C; Potential Monad-binding region of RPAP3
NM_001359982.1 → NP_001346911.1 sperm-associated antigen 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 5 and 6 encode the same protein.

Source sequence(s)

AC121577

Conserved Domains (4) summary

PLN03088
Location:631 → 807

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:214 → 698

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:229 → 253

TPR; TPR repeat [structural motif]

pfam13877
Location:789 → 878

RPAP3_C; Potential Monad-binding region of RPAP3
NM_001359983.1 → NP_001346912.1 sperm-associated antigen 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC121577

Conserved Domains (4) summary

PLN03088
Location:3 → 106

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:200 → 437

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:374 → 401

TPR; TPR repeat [structural motif]

pfam13877
Location:544 → 633

RPAP3_C; Potential Monad-binding region of RPAP3
NM_001359984.1 → NP_001346913.1 sperm-associated antigen 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 5 and 6 encode the same protein.

Source sequence(s)

AC121577

Conserved Domains (4) summary

PLN03088
Location:631 → 807

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:214 → 698

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:229 → 253

TPR; TPR repeat [structural motif]

pfam13877
Location:789 → 878

RPAP3_C; Potential Monad-binding region of RPAP3
NM_001416284.1 → NP_001403213.1 sperm-associated antigen 1 isoform 3

Status: VALIDATED

Source sequence(s)

AC121577

UniProtKB/Swiss-Prot

Q80ZX8, Q8CCK7, Q9QZJ3, Q9QZJ4
NM_012031.4 → NP_036161.2 sperm-associated antigen 1 isoform 3

See identical proteins and their annotated locations for NP_036161.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AI843673, BB706348, BC046313

Consensus CDS

CCDS37061.1

UniProtKB/Swiss-Prot

Q80ZX8, Q8CCK7, Q9QZJ3, Q9QZJ4

Related

ENSMUSP00000132233.2, ENSMUST00000171205.3

Conserved Domains (4) summary

PLN03088
Location:619 → 795

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:202 → 686

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:217 → 241

TPR; TPR repeat [structural motif]

pfam13877
Location:777 → 866

RPAP3_C; Potential Monad-binding region of RPAP3

RNA

NR_153381.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (7) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC121577

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

36175629..36235767

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036159438.1 → XP_036015331.1 sperm-associated antigen 1 isoform X1

Conserved Domains (4) summary

PLN03088
Location:631 → 807

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:214 → 698

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:229 → 253

TPR; TPR repeat [structural motif]

pfam13877
Location:789 → 878

RPAP3_C; Potential Monad-binding region of RPAP3
XM_017316634.3 → XP_017172123.1 sperm-associated antigen 1 isoform X1

Conserved Domains (4) summary

PLN03088
Location:631 → 807

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:214 → 698

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:229 → 253

TPR; TPR repeat [structural motif]

pfam13877
Location:789 → 878

RPAP3_C; Potential Monad-binding region of RPAP3
XM_036159441.1 → XP_036015334.1 sperm-associated antigen 1 isoform X3

Conserved Domains (4) summary

PLN03088
Location:3 → 106

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:200 → 437

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:374 → 401

TPR; TPR repeat [structural motif]

pfam13877
Location:544 → 633

RPAP3_C; Potential Monad-binding region of RPAP3
XM_006520076.3 → XP_006520139.1 sperm-associated antigen 1 isoform X2

See identical proteins and their annotated locations for XP_006520139.1

UniProtKB/Swiss-Prot

Q80ZX8, Q8CCK7, Q9QZJ3, Q9QZJ4

Conserved Domains (4) summary

PLN03088
Location:619 → 795

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:202 → 686

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:217 → 241

TPR; TPR repeat [structural motif]

pfam13877
Location:777 → 866

RPAP3_C; Potential Monad-binding region of RPAP3
XM_006520078.5 → XP_006520141.1 sperm-associated antigen 1 isoform X3

See identical proteins and their annotated locations for XP_006520141.1

UniProtKB/Swiss-Prot

Q80ZX8

Conserved Domains (4) summary

PLN03088
Location:3 → 106

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

TIGR00990
Location:200 → 437

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:374 → 401

TPR; TPR repeat [structural motif]

pfam13877
Location:544 → 633

RPAP3_C; Potential Monad-binding region of RPAP3