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    SPATA6 spermatogenesis associated 6 [ Homo sapiens (human) ]

    Gene ID: 54558, updated on 3-Dec-2024

    Summary

    Official Symbol
    SPATA6provided by HGNC
    Official Full Name
    spermatogenesis associated 6provided by HGNC
    Primary source
    HGNC:HGNC:18309
    See related
    Ensembl:ENSG00000132122 MIM:613947; AllianceGenome:HGNC:18309
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HASH; SRF1; SRF-1
    Summary
    Predicted to enable myosin light chain binding activity. Predicted to be involved in motile cilium assembly and spermatogenesis. Predicted to be located in extracellular region and motile cilium. Predicted to be active in sperm head-tail coupling apparatus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 10.6), thyroid (RPKM 2.4) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SPATA6 in Genome Data Viewer
    Location:
    1p33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (48261389..48472204, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (48140134..48350874, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (48761045..48937876, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2794 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:48674527-48675206 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:48679855-48680592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48697245-48697746 Neighboring gene Skint1 like (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:48834694-48835194 Neighboring gene solute carrier family 5 member 9 Neighboring gene RNA, U6 small nuclear 723, pseudogene Neighboring gene protein phosphatase 1 regulatory subunit 8 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 3042 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:48907708-48908395 Neighboring gene uncharacterized LOC124904175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1010 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:48945175-48946016 Neighboring gene Sharpr-MPRA regulatory region 6906 Neighboring gene STE20 related adaptor beta pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:48991897-48992398 Neighboring gene RNA, U4 small nuclear 61, pseudogene Neighboring gene ribosomal protein L21 pseudogene 25 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:49110904-49111546 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:49111547-49112189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:49152780-49153280 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:49174571-49174927 Neighboring gene AGBL carboxypeptidase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1011 Neighboring gene BEN domain containing 5

    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

    • FLJ10007

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables myosin light chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in sperm head-tail coupling apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sperm head-tail coupling apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    spermatogenesis-associated protein 6
    Names
    spermatogenesis-related factor-1
    testicular tissue protein Li 178

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001286238.2NP_001273167.1  spermatogenesis-associated protein 6 isoform 2

      See identical proteins and their annotated locations for NP_001273167.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The encodes isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL356968, AL359959, BC020660, BC040655
      Consensus CDS
      CCDS65535.1
      UniProtKB/TrEMBL
      B4DX17
      Related
      ENSP00000360909.3, ENST00000371843.7
      Conserved Domains (1) summary
      pfam14909
      Location:11149
      SPATA6; Spermatogenesis-assoc protein 6
    2. NM_001286239.2NP_001273168.1  spermatogenesis-associated protein 6 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform(3) is shorter than isoform 1.
      Source sequence(s)
      AK301770, AL356968, AL359959, BC040655
      Consensus CDS
      CCDS72787.1
      UniProtKB/TrEMBL
      A8MU33, B4DX17
      Related
      ENSP00000379502.4, ENST00000396199.7
      Conserved Domains (1) summary
      pfam14909
      Location:11135
      SPATA6; Spermatogenesis-assoc protein 6
    3. NM_019073.4NP_061946.1  spermatogenesis-associated protein 6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_061946.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK000869, AL356968, AL359959, BC040655
      Consensus CDS
      CCDS551.1
      UniProtKB/Swiss-Prot
      Q5T3N7, Q8WUE6, Q9NWH7
      UniProtKB/TrEMBL
      A0A140VJV1, B4DX17
      Related
      ENSP00000360913.3, ENST00000371847.8
      Conserved Domains (1) summary
      pfam14909
      Location:11149
      SPATA6; Spermatogenesis-assoc protein 6

    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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      48261389..48472204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422913.1XP_047278869.1  spermatogenesis-associated protein 6 isoform X12

    2. XM_047422901.1XP_047278857.1  spermatogenesis-associated protein 6 isoform X3

      UniProtKB/TrEMBL
      B4DX17
    3. XM_006710699.4XP_006710762.1  spermatogenesis-associated protein 6 isoform X1

      UniProtKB/TrEMBL
      B4DX17
      Conserved Domains (1) summary
      pfam14909
      Location:11149
      SPATA6; Spermatogenesis-assoc protein 6
    4. XM_047422902.1XP_047278858.1  spermatogenesis-associated protein 6 isoform X6

      UniProtKB/TrEMBL
      B4DX17
    5. XM_047422919.1XP_047278875.1  spermatogenesis-associated protein 6 isoform X13

    6. XM_017001510.2XP_016856999.1  spermatogenesis-associated protein 6 isoform X4

      UniProtKB/TrEMBL
      B4DX17
    7. XM_011541606.3XP_011539908.1  spermatogenesis-associated protein 6 isoform X7

      See identical proteins and their annotated locations for XP_011539908.1

      Conserved Domains (1) summary
      pfam14909
      Location:11149
      SPATA6; Spermatogenesis-assoc protein 6
    8. XM_017001511.3XP_016857000.1  spermatogenesis-associated protein 6 isoform X5

    9. XM_047422904.1XP_047278860.1  spermatogenesis-associated protein 6 isoform X9

      UniProtKB/TrEMBL
      B4DX17
    10. XM_011541609.3XP_011539911.1  spermatogenesis-associated protein 6 isoform X9

      See identical proteins and their annotated locations for XP_011539911.1

      UniProtKB/TrEMBL
      B4DX17
      Conserved Domains (1) summary
      pfam14909
      Location:141
      SPATA6; Spermatogenesis-assoc protein 6
    11. XM_047422907.1XP_047278863.1  spermatogenesis-associated protein 6 isoform X11

      UniProtKB/TrEMBL
      B4DX17
    12. XM_017001513.2XP_016857002.1  spermatogenesis-associated protein 6 isoform X9

      UniProtKB/TrEMBL
      B4DX17
      Conserved Domains (1) summary
      pfam14909
      Location:141
      SPATA6; Spermatogenesis-assoc protein 6
    13. XM_047422906.1XP_047278862.1  spermatogenesis-associated protein 6 isoform X10

      UniProtKB/TrEMBL
      B4DX17
    14. XM_011541607.3XP_011539909.1  spermatogenesis-associated protein 6 isoform X8

      UniProtKB/TrEMBL
      B4DX17
    15. XM_047422926.1XP_047278882.1  spermatogenesis-associated protein 6 isoform X16

    16. XM_047422900.1XP_047278856.1  spermatogenesis-associated protein 6 isoform X2

    17. XM_006710701.5XP_006710764.1  spermatogenesis-associated protein 6 isoform X15

      Conserved Domains (1) summary
      pfam14909
      Location:11149
      SPATA6; Spermatogenesis-assoc protein 6
    18. XM_047422922.1XP_047278878.1  spermatogenesis-associated protein 6 isoform X14

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      48140134..48350874 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337152.1XP_054193127.1  spermatogenesis-associated protein 6 isoform X12

    2. XM_054337141.1XP_054193116.1  spermatogenesis-associated protein 6 isoform X3

      UniProtKB/TrEMBL
      B4DX17
    3. XM_054337139.1XP_054193114.1  spermatogenesis-associated protein 6 isoform X1

      UniProtKB/TrEMBL
      B4DX17
    4. XM_054337144.1XP_054193119.1  spermatogenesis-associated protein 6 isoform X6

      UniProtKB/TrEMBL
      B4DX17
    5. XM_054337153.1XP_054193128.1  spermatogenesis-associated protein 6 isoform X13

    6. XM_054337142.1XP_054193117.1  spermatogenesis-associated protein 6 isoform X4

      UniProtKB/TrEMBL
      B4DX17
    7. XM_054337145.1XP_054193120.1  spermatogenesis-associated protein 6 isoform X7

    8. XM_054337143.1XP_054193118.1  spermatogenesis-associated protein 6 isoform X5

    9. XM_054337147.1XP_054193122.1  spermatogenesis-associated protein 6 isoform X9

      UniProtKB/TrEMBL
      B4DX17
    10. XM_054337149.1XP_054193124.1  spermatogenesis-associated protein 6 isoform X9

      UniProtKB/TrEMBL
      B4DX17
    11. XM_054337151.1XP_054193126.1  spermatogenesis-associated protein 6 isoform X11

      UniProtKB/TrEMBL
      B4DX17
    12. XM_054337148.1XP_054193123.1  spermatogenesis-associated protein 6 isoform X9

      UniProtKB/TrEMBL
      B4DX17
    13. XM_054337150.1XP_054193125.1  spermatogenesis-associated protein 6 isoform X10

      UniProtKB/TrEMBL
      B4DX17
    14. XM_054337146.1XP_054193121.1  spermatogenesis-associated protein 6 isoform X8

      UniProtKB/TrEMBL
      B4DX17
    15. XM_054337158.1XP_054193133.1  spermatogenesis-associated protein 6 isoform X16

    16. XM_054337157.1XP_054193132.1  spermatogenesis-associated protein 6 isoform X18

    17. XM_054337154.1XP_054193129.1  spermatogenesis-associated protein 6 isoform X17

    18. XM_054337140.1XP_054193115.1  spermatogenesis-associated protein 6 isoform X2

    19. XM_054337156.1XP_054193131.1  spermatogenesis-associated protein 6 isoform X15

    20. XM_054337155.1XP_054193130.1  spermatogenesis-associated protein 6 isoform X14