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SPAG1 sperm associated antigen 1 [ Homo sapiens (human) ]

Gene ID: 6674, updated on 11-Jun-2021

Summary

Official Symbol
SPAG1provided by HGNC
Official Full Name
sperm associated antigen 1provided by HGNC
Primary source
HGNC:HGNC:11212
See related
Ensembl:ENSG00000104450 MIM:603395
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
SP75; TPIS; CT140; CILD28; DNAAF13; HSD-3.8; HEL-S-268
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 agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]
Expression
Broad expression in colon (RPKM 8.4), testis (RPKM 7.5) and 22 other tissues See more
Orthologs
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Genomic context

See SPAG1 in Genome Data Viewer
Location:
8q22.2
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (100157869..100241904)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (101170266..101254132)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene F-box protein 43 Neighboring gene RNA polymerase II, I and III subunit K Neighboring gene UFM1 pseudogene 3 Neighboring gene uncharacterized LOC105375669 Neighboring gene uncharacterized LOC105375668 Neighboring gene ring finger protein 19A, RBR E3 ubiquitin protein ligase Neighboring gene microRNA 4471

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32920

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in axonemal dynein complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in axonemal dynein complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in single fertilization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
sperm-associated antigen 1
Names
TPR-containing protein involved in spermatogenesis
epididymis secretory protein Li 268
infertility-related sperm protein Spag-1
tetratricopeptide repeat-containing protein

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_033834.2 RefSeqGene

    Range
    5001..88870
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001374321.1NP_001361250.1  sperm-associated antigen 1

    Status: REVIEWED

    Source sequence(s)
    AC025647
    Conserved Domains (3) summary
    TIGR00990
    Location:141339
    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:624651
    TPR; TPR repeat [structural motif]
    pfam13877
    Location:802891
    RPAP3_C; Potential Monad-binding region of RPAP3
  2. NM_003114.5NP_003105.2  sperm-associated antigen 1

    See identical proteins and their annotated locations for NP_003105.2

    Status: REVIEWED

    Source sequence(s)
    AC025647
    Consensus CDS
    CCDS34930.1
    UniProtKB/Swiss-Prot
    Q07617
    Related
    ENSP00000373450.3, ENST00000388798.7
    Conserved Domains (3) summary
    TIGR00990
    Location:141339
    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:624651
    TPR; TPR repeat [structural motif]
    pfam13877
    Location:802891
    RPAP3_C; Potential Monad-binding region of RPAP3
  3. NM_172218.3NP_757367.1  sperm-associated antigen 1

    See identical proteins and their annotated locations for NP_757367.1

    Status: REVIEWED

    Source sequence(s)
    AC025647
    Consensus CDS
    CCDS34930.1
    UniProtKB/Swiss-Prot
    Q07617
    Related
    ENSP00000251809.3, ENST00000251809.4
    Conserved Domains (3) summary
    TIGR00990
    Location:141339
    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:624651
    TPR; TPR repeat [structural motif]
    pfam13877
    Location:802891
    RPAP3_C; Potential Monad-binding region of RPAP3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    100157869..100241904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013754.1XP_016869243.1  sperm-associated antigen 1 isoform X1

  2. XM_017013755.1XP_016869244.1  sperm-associated antigen 1 isoform X5

  3. XM_011517241.2XP_011515543.1  sperm-associated antigen 1 isoform X3

    Conserved Domains (5) summary
    smart00028
    Location:659690
    TPR; Tetratricopeptide repeats
    sd00006
    Location:213237
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:242275
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:624687
    TPR_11; TPR repeat
    pfam13877
    Location:747839
    RPAP3_C; Potential Monad-binding region of RPAP3
  4. XM_011517240.2XP_011515542.1  sperm-associated antigen 1 isoform X2

    Conserved Domains (5) summary
    smart00028
    Location:608639
    TPR; Tetratricopeptide repeats
    sd00006
    Location:573600
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:242275
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:573636
    TPR_11; TPR repeat
    pfam13877
    Location:751843
    RPAP3_C; Potential Monad-binding region of RPAP3
  5. XM_011517245.2XP_011515547.1  sperm-associated antigen 1 isoform X6

    Conserved Domains (4) summary
    sd00006
    Location:213237
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:242275
    TPR_1; Tetratricopeptide repeat
    pfam13414
    Location:213273
    TPR_11; TPR repeat
    pfam13431
    Location:265295
    TPR_17; Tetratricopeptide repeat
  6. XM_011517243.2XP_011515545.1  sperm-associated antigen 1 isoform X4

    See identical proteins and their annotated locations for XP_011515545.1

    UniProtKB/Swiss-Prot
    Q07617
    Conserved Domains (3) summary
    TIGR00990
    Location:141339
    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:624651
    TPR; TPR repeat [structural motif]
    pfam13877
    Location:802891
    RPAP3_C; Potential Monad-binding region of RPAP3

RNA

  1. XR_001745580.1 RNA Sequence

  2. XR_001745581.1 RNA Sequence

  3. XR_001745582.1 RNA Sequence

  4. XR_001745583.1 RNA Sequence

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