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SPAG8 sperm associated antigen 8 [ Homo sapiens (human) ]

Gene ID: 26206, updated on 11-Apr-2024

Summary

Official Symbol
SPAG8provided by HGNC
Official Full Name
sperm associated antigen 8provided by HGNC
Primary source
HGNC:HGNC:14105
See related
Ensembl:ENSG00000137098 MIM:605731; AllianceGenome:HGNC:14105
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
SMP1; BS-84; CT142; HSD-1; SPAG3; CILD28; hSMP-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 encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012]
Expression
Broad expression in testis (RPKM 10.6), lung (RPKM 2.8) and 16 other tissues See more
Orthologs
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Genomic context

Location:
9p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35807785..35812262, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35828452..35832929, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35807782..35812259, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene cAMP responsive element binding protein 3 Neighboring gene glucosylceramidase beta 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19878 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:35752887-35754086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19879 Neighboring gene RGP1 homolog, RAB6A GEF complex partner 1 Neighboring gene microseminoprotein, prostate associated Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19880 Neighboring gene natriuretic peptide receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:35811777-35812333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19882 Neighboring gene histidine triad nucleotide binding protein 2 Neighboring gene family with sequence similarity 221 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28339

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

Clone Names

  • MGC26201

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IEA
Inferred from Electronic Annotation
more info
 
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in single fertilization IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in axonemal A tubule inner sheath IEA
Inferred from Electronic Annotation
more info
 
located_in axonemal microtubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in axonemal microtubule ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in male germ cell nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in microtubule organizing center IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in spindle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sperm-associated antigen 8
Names
sperm membrane protein 1
sperm membrane protein BS-84
testicular tissue protein Li 177

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.

Genomic

  1. NG_047141.1 RefSeqGene

    Range
    5011..7478
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039592.2NP_001034681.1  sperm-associated antigen 8 isoform 1

    See identical proteins and their annotated locations for NP_001034681.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) includes an alternate exon in the 3' coding region, compared to variant 2. The resulting protein (isoform 1) is shorter and has a distinct C-terminus, compared to isoform 2.
    Source sequence(s)
    AL133410, BI757195, CA314354, U12978
    Consensus CDS
    CCDS43798.1
    UniProtKB/Swiss-Prot
    B4DY89, E9PDV6, Q12937, Q5TCV8, Q8WWB4, Q99932
    UniProtKB/TrEMBL
    A0A140VJV0, H7C4J6
    Related
    ENSP00000379878.2, ENST00000396638.7
  2. NM_001366760.2NP_001353689.1  sperm-associated antigen 8 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL133410, DB250635
    UniProtKB/TrEMBL
    C9JAA8
  3. NM_172312.2NP_758516.1  sperm-associated antigen 8 isoform 2

    See identical proteins and their annotated locations for NP_758516.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
    Source sequence(s)
    AL133410
    Consensus CDS
    CCDS6592.1
    UniProtKB/TrEMBL
    H7C4J6
    Related
    ENSP00000340982.2, ENST00000340291.6

RNA

  1. NR_159431.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL133410, DB250635

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    35807785..35812262 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447512.2XP_024303280.1  sperm-associated antigen 8 isoform X3

    UniProtKB/TrEMBL
    C9JAA8
  2. XM_024447511.2XP_024303279.1  sperm-associated antigen 8 isoform X2

    UniProtKB/TrEMBL
    C9JAA8
  3. XM_024447510.2XP_024303278.1  sperm-associated antigen 8 isoform X1

    UniProtKB/TrEMBL
    H7C4J6
  4. XM_024447515.2XP_024303283.1  sperm-associated antigen 8 isoform X5

  5. XM_024447514.2XP_024303282.1  sperm-associated antigen 8 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    35828452..35832929 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362718.1XP_054218693.1  sperm-associated antigen 8 isoform X3

  2. XM_054362717.1XP_054218692.1  sperm-associated antigen 8 isoform X2

  3. XM_054362716.1XP_054218691.1  sperm-associated antigen 8 isoform X1

  4. XM_054362720.1XP_054218695.1  sperm-associated antigen 8 isoform X5

  5. XM_054362719.1XP_054218694.1  sperm-associated antigen 8 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_012436.2: Suppressed sequence

    Description
    NM_012436.2: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.