SPAG6 sperm associated antigen 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPAG6provided by HGNC
Official Full Name: sperm associated antigen 6provided by HGNC
Primary source: HGNC:HGNC:11215
See related: Ensembl:ENSG00000077327 MIM:605730; AllianceGenome:HGNC:11215
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: pf16; CT141; FAP194; CFAP194; Repro-SA-1
Summary: The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression: Restricted expression toward testis (RPKM 51.7) See more
Orthologs: mouse all
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Genomic context

Location:: 10p12.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (22345496..22417610)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (22364530..22436652)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (22634425..22706539)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPAG6 regulates cell proliferation and apoptosis via TGF-beta/Smad signal pathway in adult B-cell acute lymphoblastic leukemia.
Title: SPAG6 regulates cell proliferation and apoptosis via TGF-β/Smad signal pathway in adult B-cell acute lymphoblastic leukemia.
Upregulated SPAG6 promotes acute myeloid leukemia progression through MYO1D that regulates the EGFR family expression.
Title: Upregulated SPAG6 promotes acute myeloid leukemia progression through MYO1D that regulates the EGFR family expression.
Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF.
Title: Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF.
Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia.
Title: Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia.
SPAG6 promotes cell proliferation and inhibits apoptosis through the PTEN/PI3K/AKT pathway in Burkitt lymphoma.
Title: SPAG6 promotes cell proliferation and inhibits apoptosis through the PTEN/PI3K/AKT pathway in Burkitt lymphoma.
Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
Title: Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
Upregulation of SPAG6 is associated with Myelodysplastic Syndrome.
Title: Upregulation of SPAG6 in Myelodysplastic Syndrome: Knockdown Inhibits Cell Proliferation via AKT/FOXO Signaling Pathway.
These results demonstrate that SPAG6 silencing induces PTEN expression to regulate apoptosis though the PI3K/AKT pathway, indicating that SPAG6 may be a potential therapeutic target for myelodysplastic syndromes.
Title: SPAG6 silencing induces apoptosis in the myelodysplastic syndrome cell line SKM‑1 via the PTEN/PI3K/AKT signaling pathway in vitro and in vivo.
SPAG6 and L1TD1 are tumor-specifically methylated in NSCLCs and that DNA methylation is involved in the transcriptional regulation of these genes. Moreover, in vitro as well as in vivo experiments revealed tumor-cell growth suppressing properties of L1TD1 in NSCLC cells.
Title: SPAG6 and L1TD1 are transcriptionally regulated by DNA methylation in non-small cell lung cancers.
Study demonstrates that SPAG6 may regulate apoptosis through the TRAIL signal pathway by inhibiting the expression of FADD and the interactions between FADD and the TRAIL death receptors.
Title: SPAG6 regulates cell apoptosis through the TRAIL signal pathway in myelodysplastic syndromes.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

SHGC-30672 (e-PCR)
- UniSTS:77410

D10S1599 (e-PCR)
- UniSTS:42609

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in epithelial cilium movement involved in extracellular fluid movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in filopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection extension	IBA Inferred from Biological aspect of Ancestor more info
involved_in sperm axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in acrosomal vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed
is_active_in sperm principal piece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sperm-associated antigen 6

Names: axoneme central apparatus protein; protein PF16 homolog; sperm flagellar protein; testicular tissue protein Li 176

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_001253854.2 → NP_001240783.1 sperm-associated antigen 6 isoform 3

See identical proteins and their annotated locations for NP_001240783.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains several alternate exons in the 5' end that cause a frameshift and use of a downstream translation start site. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AF079363, AK302194, BC030585

Consensus CDS

CCDS58071.1

UniProtKB/Swiss-Prot

O75602

Related

ENSP00000441325.1, ENST00000538630.2

Conserved Domains (4) summary

cd00020
Location:52 → 170

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

pfam13646
Location:105 → 209

HEAT_2; HEAT repeats

sd00044
Location:264 → 300

HEAT; HEAT repeat [structural motif]

sd00043
Location:95 → 127

ARM; armadillo repeat [structural motif]
NM_001253855.2 → NP_001240784.1 sperm-associated antigen 6 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) retains an intron in the 5' end and contains an alternate coding exon in the 3' end. The resulting isoform (4) uses a downstream translation start codon, so it has a shorter N-terminus and a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AF079363, AK310247, BC030585

Consensus CDS

CCDS73072.1

UniProtKB/TrEMBL

A0A0A0MRT8

Related

ENSP00000365788.3, ENST00000376603.6

Conserved Domains (3) summary

COG5064
Location:90 → 401

SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]

sd00044
Location:267 → 303

HEAT; HEAT repeat [structural motif]

sd00043
Location:98 → 130

ARM; armadillo repeat [structural motif]
NM_012443.4 → NP_036575.1 sperm-associated antigen 6 isoform 1

See identical proteins and their annotated locations for NP_036575.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AF079363, BC030585, DB025758

Consensus CDS

CCDS7139.1

UniProtKB/Swiss-Prot

A8K1I8, B4DXZ4, O75602, Q5VUX5, Q5VUX6, Q5VUX7, Q6FI74, Q8NHQ6

UniProtKB/TrEMBL

A0A140VJU9

Related

ENSP00000365811.3, ENST00000376624.8

Conserved Domains (3) summary

COG5064
Location:112 → 423

SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]

sd00044
Location:289 → 325

HEAT; HEAT repeat [structural motif]

sd00043
Location:120 → 152

ARM; armadillo repeat [structural motif]
NM_172242.3 → NP_758442.1 sperm-associated antigen 6 isoform 2

See identical proteins and their annotated locations for NP_758442.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2) that has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF079363, AL080136, BC030585, DB025758

Consensus CDS

CCDS7140.1

UniProtKB/Swiss-Prot

O75602

Related

ENSP00000323599.6, ENST00000313311.10

Conserved Domains (3) summary

COG5064
Location:112 → 423

SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]

sd00044
Location:289 → 325

HEAT; HEAT repeat [structural motif]

sd00043
Location:120 → 152

ARM; armadillo repeat [structural motif]

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

22345496..22417610

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005252646.3 → XP_005252703.1 sperm-associated antigen 6 isoform X1

See identical proteins and their annotated locations for XP_005252703.1

Conserved Domains (2) summary

COG5064
Location:14 → 365

SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]

sd00043
Location:120 → 152

ARM; armadillo repeat [structural motif]
XM_047426030.1 → XP_047281986.1 sperm-associated antigen 6 isoform X2