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    SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 [ Homo sapiens (human) ]

    Gene ID: 92521, updated on 7-Apr-2024

    Summary

    Official Symbol
    SPECC1provided by HGNC
    Official Full Name
    sperm antigen with calponin homology and coiled-coil domains 1provided by HGNC
    Primary source
    HGNC:HGNC:30615
    See related
    Ensembl:ENSG00000128487 MIM:608793; AllianceGenome:HGNC:30615
    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
    NSP; NSP5; CYTSB; HCMOGT1; HCMOGT-1
    Summary
    The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in brain (RPKM 6.4), testis (RPKM 6.0) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    17p11.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (20009359..20319026)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19958073..20267692)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19912672..20222339)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene A-kinase anchoring protein 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19881511-19882224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19890363-19891159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19896026-19896559 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:19898031-19898532 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:19898533-19899032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19911474-19912041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8304 Neighboring gene SPECC1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 5861 Neighboring gene uncharacterized LOC100131943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11865 Neighboring gene Sharpr-MPRA regulatory region 535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11868 Neighboring gene Sharpr-MPRA regulatory region 1687 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:20026257-20026482 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:20039526-20039742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:20046676-20047184 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 1 Neighboring gene RNA, U6 small nuclear 258, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8306 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8308 Neighboring gene Sharpr-MPRA regulatory region 374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:20135138-20135638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:20184836-20185336 Neighboring gene RNA, U6 small nuclear 1057, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:20218551-20219051 Neighboring gene coiled-coil domain containing 144C, pseudogene Neighboring gene RNA, U6 small nuclear 467, pseudogene Neighboring gene UPF3A pseudogene 2

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ36955

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in associative learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blastocyst development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    part_of filamentous actin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    cytospin-B
    Names
    cytokinesis and spindle organization B
    nuclear structure protein 5
    sperm antigen HCMOGT-1
    sperm antigen with calponin-like and coiled coil domains 1
    structure protein NSP5a3a
    structure protein NSP5a3b
    structure protein NSP5b3a
    structure protein NSP5b3b

    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.

    Genomic

    1. NG_029768.3 RefSeqGene

      Range
      5002..314669
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033553.3NP_001028725.1  cytospin-B isoform 1

      See identical proteins and their annotated locations for NP_001028725.1

      Status: REVIEWED

      Source sequence(s)
      AC004702, AC007963, AC008088
      Consensus CDS
      CCDS32590.1
      UniProtKB/Swiss-Prot
      B4DHH0, B7WNS8, Q5IBP1, Q5IBP2, Q5IBP3, Q5IBP4, Q5M772, Q5M773, Q5M774, Q5M775, Q86XT8, Q8N4U4, Q8WU84, Q9HCQ3
      UniProtKB/TrEMBL
      A0A7I2V486
      Related
      ENSP00000261503.5, ENST00000261503.9
      Conserved Domains (2) summary
      TIGR04523
      Location:367771
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd21257
      Location:9561067
      CH_CYTSB; calponin homology (CH) domain found in cytospin-B
    2. NM_001033554.3NP_001028726.1  cytospin-B isoform 4

      See identical proteins and their annotated locations for NP_001028726.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains alternate exons at both the 5' and 3' ends compared to variant 1. This results in a shorter isoform (4, also known as NSP5alpha3alpha) with distinct N- and C- termini compared to isoform 1.
      Source sequence(s)
      AC004702, AI950511, AK304186, AY816326, BC033618, BC037532, BP309862, CN361555, DC336225
      Consensus CDS
      CCDS45628.1
      UniProtKB/TrEMBL
      A0A7P0T9K0
      Related
      ENSP00000378896.3, ENST00000395525.7
      Conserved Domains (1) summary
      cl09111
      Location:555650
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    3. NM_001033555.3NP_001028727.1  cytospin-B isoform 2

      See identical proteins and their annotated locations for NP_001028727.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1. This results in a shorter isoform (2, also known as NSP5alpha3beta) with a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC008088, AK301318, AK304186, AY816327, AY816329, BP309862, CA427363, DC336225
      Consensus CDS
      CCDS42281.1
      UniProtKB/TrEMBL
      B4E2A4
      Related
      ENSP00000378901.2, ENST00000395530.6
      Conserved Domains (3) summary
      cd00014
      Location:885985
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam04156
      Location:64179
      IncA; IncA protein
      cl09111
      Location:555650
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    4. NM_001243438.2NP_001230367.1  cytospin-B isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains alternate exons at both the 5' and 3' ends, and uses an alternate donor splice site at the penultimate exon compared to variant 1. This results in a shorter isoform (5) with distinct N- and C- termini compared to isoform 1.
      Source sequence(s)
      AC004702, AI950511, AK304186, BC033618, BC037532, BC050058, BP309862, CN361555, DC336225
      Consensus CDS
      CCDS58531.1
      UniProtKB/TrEMBL
      A0A7P0T9K0
      Related
      ENSP00000378893.2, ENST00000395522.6
      Conserved Domains (1) summary
      cl09111
      Location:555650
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    5. NM_001243439.2NP_001230368.1  cytospin-B isoform 1

      See identical proteins and their annotated locations for NP_001230368.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal non-coding exon compared to variant 1. Variants 1 and 6 encode the same isoform (1).
      Source sequence(s)
      AC008088, AK295093, AK301318, AK304186, AY816329, BP309862, CA427363, DA058164
      Consensus CDS
      CCDS32590.1
      UniProtKB/Swiss-Prot
      B4DHH0, B7WNS8, Q5IBP1, Q5IBP2, Q5IBP3, Q5IBP4, Q5M772, Q5M773, Q5M774, Q5M775, Q86XT8, Q8N4U4, Q8WU84, Q9HCQ3
      UniProtKB/TrEMBL
      A0A7I2V486
      Related
      ENSP00000378898.4, ENST00000395527.9
      Conserved Domains (2) summary
      TIGR04523
      Location:367771
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd21257
      Location:9561067
      CH_CYTSB; calponin homology (CH) domain found in cytospin-B
    6. NM_001386077.2NP_001373006.1  cytospin-B isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC004702, AC007963, AC008088
      Consensus CDS
      CCDS92279.1
      UniProtKB/TrEMBL
      B4DW07, J3KSG2
      Related
      ENSP00000462471.2, ENST00000581399.6
      Conserved Domains (2) summary
      COG1196
      Location:2113
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd21257
      Location:296407
      CH_CYTSB; calponin homology (CH) domain found in cytospin-B
    7. NM_001386078.2NP_001373007.1  cytospin-B isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC004702, AC005730, AC007963, AC008088
      Consensus CDS
      CCDS92274.1
      UniProtKB/TrEMBL
      J3KRB9
      Related
      ENSP00000461918.2, ENST00000583528.6
      Conserved Domains (2) summary
      COG1196
      Location:142277
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd21257
      Location:462573
      CH_CYTSB; calponin homology (CH) domain found in cytospin-B
    8. NM_001386079.1NP_001373008.1  cytospin-B isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC004702, AC005730, AC007963
      Consensus CDS
      CCDS92278.1
      UniProtKB/TrEMBL
      A0A7P0TAS3, J3KRD8, J3KS18, J3KTI9, J3QRQ9, J3QS22
      Related
      ENSP00000506319.1, ENST00000681202.1
      Conserved Domains (1) summary
      TIGR02168
      Location:370726
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    9. NM_001386080.1NP_001373009.1  cytospin-B isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC004702, AC005730, AC007963, AC008088
      UniProtKB/TrEMBL
      B4DIW7
      Related
      ENST00000678651.1
      Conserved Domains (2) summary
      TIGR02168
      Location:146502
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd21257
      Location:732843
      CH_CYTSB; calponin homology (CH) domain found in cytospin-B
    10. NM_001386081.1NP_001373010.1  cytospin-B isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC004702, AC005730, AC007963, AC008088
      Consensus CDS
      CCDS92275.1
      UniProtKB/TrEMBL
      A0A7I2V486, A0A7P0TBP2
      Related
      ENSP00000506699.1, ENST00000680019.1
      Conserved Domains (2) summary
      TIGR04523
      Location:367771
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cl00030
      Location:9561019
      CH_SF; calponin homology (CH) domain superfamily
    11. NM_001386082.1NP_001373011.1  cytospin-B isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC004702, AC005730, AC007963, AC008088
      Consensus CDS
      CCDS92276.1
      UniProtKB/TrEMBL
      A0A7I2V416, A0A7I2V451
      Related
      ENSP00000503509.1, ENST00000678019.1
      Conserved Domains (2) summary
      TIGR04523
      Location:367771
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cl00030
      Location:9561047
      CH_SF; calponin homology (CH) domain superfamily
    12. NM_001386083.2NP_001373012.2  cytospin-B isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC004702, AC005730, AC007963, AC008088
      Consensus CDS
      CCDS32590.1
      UniProtKB/Swiss-Prot
      B4DHH0, B7WNS8, Q5IBP1, Q5IBP2, Q5IBP3, Q5IBP4, Q5M772, Q5M773, Q5M774, Q5M775, Q86XT8, Q8N4U4, Q8WU84, Q9HCQ3
      UniProtKB/TrEMBL
      A0A7I2V486
      Related
      ENSP00000504211.1, ENST00000679255.1
      Conserved Domains (2) summary
      TIGR04523
      Location:367771
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cd21257
      Location:9561067
      CH_CYTSB; calponin homology (CH) domain found in cytospin-B
    13. NM_001386084.1NP_001373013.1  cytospin-B isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC004702, AC005730, AC007963
      UniProtKB/TrEMBL
      J3KRD8, J3KS18, J3KTI9, J3QRQ9, J3QS22
      Conserved Domains (1) summary
      TIGR02168
      Location:378734
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    14. NM_001386085.1NP_001373014.1  cytospin-B isoform 14

      Status: REVIEWED

      Source sequence(s)
      AC004702, AC005730, AC007963, AC008088
      Consensus CDS
      CCDS92277.1
      UniProtKB/TrEMBL
      A0A7I2V451, A0A7I2YQJ3
      Related
      ENSP00000503774.1, ENST00000679048.1
      Conserved Domains (2) summary
      TIGR04523
      Location:367771
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      cl00030
      Location:9561028
      CH_SF; calponin homology (CH) domain superfamily
    15. NM_152904.4NP_690868.3  cytospin-B isoform 3

      See identical proteins and their annotated locations for NP_690868.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' terminal exon compared to variant 1. This results in a shorter isoform (3, also known as NSP5beta3alpha) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC004702, AI950511, AK295093, AK304186, AY816328, BC033618, BC037532, BP309862, CN361555
      Consensus CDS
      CCDS42280.1
      UniProtKB/TrEMBL
      J3KRD8, J3KS18, J3KTI9, J3QRQ9, J3QS22
      Related
      ENSP00000378900.3, ENST00000395529.7
      Conserved Domains (1) summary
      cl09111
      Location:636731
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      20009359..20319026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437065.1XP_047293021.1  cytospin-B isoform X4

    2. XM_017025319.2XP_016880808.1  cytospin-B isoform X4

      UniProtKB/TrEMBL
      A0A7I2V486
    3. XM_017025325.2XP_016880814.1  cytospin-B isoform X11

      UniProtKB/TrEMBL
      J3KRD8, J3KS18, J3KTI9, J3QRQ9, J3QS22
      Related
      ENSP00000503507.1, ENST00000676570.1
      Conserved Domains (1) summary
      cl09111
      Location:636731
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    4. XM_047437067.1XP_047293023.1  cytospin-B isoform X4

    5. XM_047437069.1XP_047293025.1  cytospin-B isoform X6

      UniProtKB/Swiss-Prot
      B4DHH0, B7WNS8, Q5IBP1, Q5IBP2, Q5IBP3, Q5IBP4, Q5M772, Q5M773, Q5M774, Q5M775, Q86XT8, Q8N4U4, Q8WU84, Q9HCQ3
    6. XM_047437064.1XP_047293020.1  cytospin-B isoform X4

    7. XM_047437066.1XP_047293022.1  cytospin-B isoform X4

    8. XM_047437063.1XP_047293019.1  cytospin-B isoform X4

    9. XM_047437071.1XP_047293027.1  cytospin-B isoform X6

      UniProtKB/Swiss-Prot
      B4DHH0, B7WNS8, Q5IBP1, Q5IBP2, Q5IBP3, Q5IBP4, Q5M772, Q5M773, Q5M774, Q5M775, Q86XT8, Q8N4U4, Q8WU84, Q9HCQ3
    10. XM_047437062.1XP_047293018.1  cytospin-B isoform X3

    11. XM_047437061.1XP_047293017.1  cytospin-B isoform X2

    12. XM_047437060.1XP_047293016.1  cytospin-B isoform X1

    13. XM_047437068.1XP_047293024.1  cytospin-B isoform X5

    14. XM_047437073.1XP_047293029.1  cytospin-B isoform X10

      Related
      ENSP00000506044.1, ENST00000680604.1
    15. XM_047437072.1XP_047293028.1  cytospin-B isoform X9

    16. XM_017025321.2XP_016880810.1  cytospin-B isoform X7

      UniProtKB/TrEMBL
      B4E2A4
    17. XM_047437070.1XP_047293026.1  cytospin-B isoform X8

    18. XM_047437075.1XP_047293031.1  cytospin-B isoform X13

    19. XM_047437074.1XP_047293030.1  cytospin-B isoform X12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      19958073..20267692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317788.1XP_054173763.1  cytospin-B isoform X4

    2. XM_054317790.1XP_054173765.1  cytospin-B isoform X4

    3. XM_054317798.1XP_054173773.1  cytospin-B isoform X11

    4. XM_054317792.1XP_054173767.1  cytospin-B isoform X6

      UniProtKB/Swiss-Prot
      B4DHH0, B7WNS8, Q5IBP1, Q5IBP2, Q5IBP3, Q5IBP4, Q5M772, Q5M773, Q5M774, Q5M775, Q86XT8, Q8N4U4, Q8WU84, Q9HCQ3
    5. XM_054317787.1XP_054173762.1  cytospin-B isoform X4

    6. XM_054317786.1XP_054173761.1  cytospin-B isoform X4

    7. XM_054317789.1XP_054173764.1  cytospin-B isoform X4

    8. XM_054317795.1XP_054173770.1  cytospin-B isoform X6

      UniProtKB/Swiss-Prot
      B4DHH0, B7WNS8, Q5IBP1, Q5IBP2, Q5IBP3, Q5IBP4, Q5M772, Q5M773, Q5M774, Q5M775, Q86XT8, Q8N4U4, Q8WU84, Q9HCQ3
    9. XM_054317785.1XP_054173760.1  cytospin-B isoform X3

    10. XM_054317784.1XP_054173759.1  cytospin-B isoform X2

    11. XM_054317783.1XP_054173758.1  cytospin-B isoform X1

    12. XM_054317791.1XP_054173766.1  cytospin-B isoform X5

    13. XM_054317797.1XP_054173772.1  cytospin-B isoform X10

    14. XM_054317796.1XP_054173771.1  cytospin-B isoform X9

    15. XM_054317793.1XP_054173768.1  cytospin-B isoform X7

    16. XM_054317794.1XP_054173769.1  cytospin-B isoform X8

    17. XM_054317800.1XP_054173775.1  cytospin-B isoform X13

    18. XM_054317799.1XP_054173774.1  cytospin-B isoform X12