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

Gene ID: 9576, updated on 15-Jun-2019

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
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; 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

Genomic context

See SPAG6 in Genome Data Viewer
Location:
10p12.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (22345445..22417610)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (22634345..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 LOC105376448 Neighboring gene uncharacterized LOC100499489

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 FunctionsWhat'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

Process Evidence Code Pubs
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
spermatid development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
axoneme TAS
Traceable Author Statement
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA 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)

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_001253855.1NP_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, DB025758, DB057157
    Consensus CDS
    CCDS73072.1
    UniProtKB/Swiss-Prot
    O75602
    UniProtKB/TrEMBL
    A0A0A0MRT8
    Related
    ENSP00000365788.3, ENST00000376603.6
    Conserved Domains (4) summary
    cd00020
    Location:55173
    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:108212
    HEAT_2; HEAT repeats
    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
    UniProtKB/TrEMBL
    A0A140VJU9
    Related
    ENSP00000365811.3, ENST00000376624.8
    Conserved Domains (3) summary
    sd00044
    Location:289325
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:120152
    ARM; armadillo repeat [structural motif]
    cl25709
    Location:112423
    Arm_3; Atypical Arm repeat
  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
    sd00044
    Location:289325
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:120152
    ARM; armadillo repeat [structural motif]
    cl25709
    Location:112423
    Arm_3; Atypical Arm repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    22345445..22417610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252645.2XP_005252702.1  sperm-associated antigen 6 isoform X1

    Conserved Domains (4) summary
    cd00020
    Location:77195
    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:130234
    HEAT_2; HEAT repeats
    sd00044
    Location:289325
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:120152
    ARM; armadillo repeat [structural motif]
  2. XM_005252646.2XP_005252703.1  sperm-associated antigen 6 isoform X2

    See identical proteins and their annotated locations for XP_005252703.1

    Conserved Domains (2) summary
    cd00020
    Location:77195
    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, ...
    sd00043
    Location:120152
    ARM; armadillo repeat [structural motif]
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