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

Gene ID: 9576, updated on 2-Oct-2022

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
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Genomic context

See SPAG6 in Genome Data Viewer
Location:
10p12.2
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (22345496..22417610)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (22364530..22436652)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22634425..22706539)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene COMMD3-BMI1 readthrough Neighboring gene COMM domain containing 3 Neighboring gene BMI1 proto-oncogene, polycomb ring finger Neighboring gene uncharacterized LOC105376449 Neighboring gene long intergenic non-protein coding RNA 3027 Neighboring gene uncharacterized LOC105376450

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26276, DKFZp434I153

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in epithelial cilium movement involved in extracellular fluid movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in filopodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron projection extension IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sperm axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in acrosomal vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in nucleus HDA PubMed 
is_active_in sperm principal piece IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in sperm principal piece IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

  1. NM_001253854.2NP_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:52170
    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:105209
    HEAT_2; HEAT repeats
    sd00044
    Location:264300
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:95127
    ARM; armadillo repeat [structural motif]
  2. NM_001253855.2NP_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/Swiss-Prot
    O75602
    UniProtKB/TrEMBL
    A0A0A0MRT8
    Related
    ENSP00000365788.3, ENST00000376603.6
    Conserved Domains (3) summary
    COG5064
    Location:90401
    SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
    sd00044
    Location:267303
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:98130
    ARM; armadillo repeat [structural motif]
  3. NM_012443.4NP_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
    O75602, Q8NHQ6
    UniProtKB/TrEMBL
    A0A140VJU9
    Related
    ENSP00000365811.3, ENST00000376624.8
    Conserved Domains (3) summary
    COG5064
    Location:112423
    SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
    sd00044
    Location:289325
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:120152
    ARM; armadillo repeat [structural motif]
  4. NM_172242.3NP_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:112423
    SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
    sd00044
    Location:289325
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:120152
    ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    22345496..22417610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252646.3XP_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:14365
    SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
    sd00043
    Location:120152
    ARM; armadillo repeat [structural motif]
  2. XM_047426030.1XP_047281986.1  sperm-associated antigen 6 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    22364530..22436652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)