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    CCDC57 coiled-coil domain containing 57 [ Homo sapiens (human) ]

    Gene ID: 284001, updated on 10-Dec-2024

    Summary

    Official Symbol
    CCDC57provided by HGNC
    Official Full Name
    coiled-coil domain containing 57provided by HGNC
    Primary source
    HGNC:HGNC:27564
    See related
    Ensembl:ENSG00000176155 AllianceGenome:HGNC:27564
    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
    Summary
    Involved in several processes, including G2/M transition of mitotic cell cycle; cilium assembly; and microtubule cytoskeleton organization. Located in centriolar satellite; centriole; and spindle microtubule. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.8), duodenum (RPKM 2.0) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CCDC57 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82101470..82212842, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82968627..83080766, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80059346..80170718, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80022320-80023048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9190 Neighboring gene dihydrouridine synthase 1 like Neighboring gene MPRA-validated peak3028 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80038893-80039778 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80054421-80055336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9194 Neighboring gene small nucleolar RNA, C/D box 134 Neighboring gene fatty acid synthase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80061739-80062652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80062653-80063566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80065397-80066310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80074745-80075652 Neighboring gene uncharacterized LOC124904119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12990 Neighboring gene Sharpr-MPRA regulatory region 9641 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80131430-80132220 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80133010-80133799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80137557-80138524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80138525-80139491 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:80163065-80163866 and GRCh37_chr17:80163867-80164668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9195 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80171129-80172071 Neighboring gene Sharpr-MPRA regulatory region 4733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12994 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:80183365-80183517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9203 Neighboring gene solute carrier family 16 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12995 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80195135-80195906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80196677-80197447 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12996 Neighboring gene microRNA 6787 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:80210177-80211376 Neighboring gene casein kinase 1 delta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80223561-80224292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9206

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (12 hits/383 screens)

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ00130, FLJ23754, FLJ43953, MGC102869

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in G2/M transition of mitotic cell cycle PubMed 
    involved_in centriole replication  
    involved_in centriole replication PubMed 
    involved_in cilium assembly  
    involved_in cilium assembly PubMed 
    involved_in microtubule nucleation  
    involved_in microtubule nucleation PubMed 
    involved_in positive regulation of mitotic cell cycle  
    involved_in positive regulation of mitotic cell cycle PubMed 
    Component Evidence Code Pubs
    is_active_in centriolar satellite  
    located_in centriolar satellite PubMed 
    is_active_in centriole  
    located_in centriole PubMed 
    located_in centrosome PubMed 
    located_in cytoplasm  
    is_active_in spindle microtubule  
    located_in spindle microtubule PubMed 

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 57
    NP_001303250.1
    NP_001354757.1
    NP_001381598.1
    NP_001381599.1
    NP_932348.2
    XP_011521850.1
    XP_011521851.1
    XP_011521853.1
    XP_011521857.1
    XP_011521859.1
    XP_016879951.1
    XP_016879952.2
    XP_016879953.2
    XP_016879956.1
    XP_016879958.1
    XP_016879962.2
    XP_016879963.2
    XP_024306472.1
    XP_047291721.1
    XP_047291722.1
    XP_047291723.1
    XP_047291724.1
    XP_047291725.1
    XP_047291726.1
    XP_047291727.1
    XP_047291728.1
    XP_047291729.1
    XP_047291730.1
    XP_047291731.1
    XP_047291732.1
    XP_047291733.1
    XP_047291734.1
    XP_047291735.1
    XP_047291736.1
    XP_047291737.1
    XP_047291738.1
    XP_047291739.1
    XP_054171716.1
    XP_054171717.1
    XP_054171718.1
    XP_054171719.1
    XP_054171720.1
    XP_054171721.1
    XP_054171722.1
    XP_054171723.1
    XP_054171724.1
    XP_054171725.1
    XP_054171726.1
    XP_054171727.1
    XP_054171728.1
    XP_054171729.1
    XP_054171730.1
    XP_054171731.1

    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_001316321.3NP_001303250.1  coiled-coil domain-containing protein 57 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR, lacks several 3' exons and has a 3' end that extends into an intron compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC129510, AC132872, AF007146, BC040264, HY095706
      Consensus CDS
      CCDS11803.1
      UniProtKB/Swiss-Prot
      Q2TAC2
      Related
      ENSP00000376154.3, ENST00000392343.3
      Conserved Domains (2) summary
      COG1196
      Location:9351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:222549
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    2. NM_001367828.2NP_001354757.1  coiled-coil domain-containing protein 57 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC129510, AC132872, AC135056
    3. NM_001394669.1NP_001381598.1  coiled-coil domain-containing protein 57 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC129510, AC132872, AC135056
      Consensus CDS
      CCDS92420.1
      UniProtKB/TrEMBL
      A0A590UJT6
      Related
      ENSP00000511565.1, ENST00000694881.1
      Conserved Domains (3) summary
      PHA03247
      Location:8111019
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:9351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:222549
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    4. NM_001394670.1NP_001381599.1  coiled-coil domain-containing protein 57 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC129510, AC132872, AC135056
      Consensus CDS
      CCDS92420.1
      UniProtKB/TrEMBL
      A0A590UJT6
      Conserved Domains (3) summary
      PHA03247
      Location:8111019
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:9351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:222549
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    5. NM_198082.4NP_932348.2  coiled-coil domain-containing protein 57 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC132872, AK074059, AW338721, BC110997, BE146089
      Consensus CDS
      CCDS92419.1
      UniProtKB/Swiss-Prot
      A6NP51, A8MQC7, Q2TAC2, Q8IWG2, Q8TER3
      Related
      ENSP00000374292.5, ENST00000389641.9
      Conserved Domains (2) summary
      COG1196
      Location:9351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:222549
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      82101470..82212842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435774.1XP_047291730.1  coiled-coil domain-containing protein 57 isoform X11

      UniProtKB/TrEMBL
      A0A590UJT6
      Related
      ENSP00000499556.1, ENST00000665763.1
    2. XM_047435773.1XP_047291729.1  coiled-coil domain-containing protein 57 isoform X10

    3. XM_047435770.1XP_047291726.1  coiled-coil domain-containing protein 57 isoform X8

    4. XM_047435769.1XP_047291725.1  coiled-coil domain-containing protein 57 isoform X6

    5. XM_017024463.3XP_016879952.2  coiled-coil domain-containing protein 57 isoform X3

    6. XM_047435775.1XP_047291731.1  coiled-coil domain-containing protein 57 isoform X16

    7. XM_047435779.1XP_047291735.1  coiled-coil domain-containing protein 57 isoform X20

    8. XM_047435772.1XP_047291728.1  coiled-coil domain-containing protein 57 isoform X9

    9. XM_011523549.4XP_011521851.1  coiled-coil domain-containing protein 57 isoform X7

      See identical proteins and their annotated locations for XP_011521851.1

      Conserved Domains (2) summary
      COG1196
      Location:9351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:222549
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    10. XM_011523548.4XP_011521850.1  coiled-coil domain-containing protein 57 isoform X7

      See identical proteins and their annotated locations for XP_011521850.1

      Conserved Domains (2) summary
      COG1196
      Location:9351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:222549
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    11. XM_017024469.3XP_016879958.1  coiled-coil domain-containing protein 57 isoform X12

    12. XM_047435771.1XP_047291727.1  coiled-coil domain-containing protein 57 isoform X9

    13. XM_011523551.4XP_011521853.1  coiled-coil domain-containing protein 57 isoform X7

      See identical proteins and their annotated locations for XP_011521853.1

      Conserved Domains (2) summary
      COG1196
      Location:9351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:222549
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    14. XM_047435766.1XP_047291722.1  coiled-coil domain-containing protein 57 isoform X4

    15. XM_047435768.1XP_047291724.1  coiled-coil domain-containing protein 57 isoform X4

    16. XM_017024467.3XP_016879956.1  coiled-coil domain-containing protein 57 isoform X7

      Conserved Domains (2) summary
      COG1196
      Location:9351
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:222549
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    17. XM_017024462.3XP_016879951.1  coiled-coil domain-containing protein 57 isoform X2

    18. XM_047435765.1XP_047291721.1  coiled-coil domain-containing protein 57 isoform X1

    19. XM_047435767.1XP_047291723.1  coiled-coil domain-containing protein 57 isoform X4

    20. XM_024450704.2XP_024306472.1  coiled-coil domain-containing protein 57 isoform X13

      Conserved Domains (1) summary
      cl25732
      Location:16362
      SMC_N; RecF/RecN/SMC N terminal domain
    21. XM_011523555.4XP_011521857.1  coiled-coil domain-containing protein 57 isoform X13

      See identical proteins and their annotated locations for XP_011521857.1

      Conserved Domains (1) summary
      cl25732
      Location:16362
      SMC_N; RecF/RecN/SMC N terminal domain
    22. XM_047435777.1XP_047291733.1  coiled-coil domain-containing protein 57 isoform X18

    23. XM_011523557.4XP_011521859.1  coiled-coil domain-containing protein 57 isoform X22

      See identical proteins and their annotated locations for XP_011521859.1

      Conserved Domains (1) summary
      TIGR02168
      Location:7344
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    24. XM_047435778.1XP_047291734.1  coiled-coil domain-containing protein 57 isoform X19

    25. XM_017024473.2XP_016879962.2  coiled-coil domain-containing protein 57 isoform X14

    26. XM_017024464.3XP_016879953.2  coiled-coil domain-containing protein 57 isoform X5

    27. XM_047435776.1XP_047291732.1  coiled-coil domain-containing protein 57 isoform X17

    28. XM_017024474.3XP_016879963.2  coiled-coil domain-containing protein 57 isoform X15

    29. XM_047435780.1XP_047291736.1  coiled-coil domain-containing protein 57 isoform X21

    30. XM_047435781.1XP_047291737.1  coiled-coil domain-containing protein 57 isoform X23

    31. XM_047435782.1XP_047291738.1  coiled-coil domain-containing protein 57 isoform X24

    32. XM_047435783.1XP_047291739.1  coiled-coil domain-containing protein 57 isoform X25

    RNA

    1. XR_001752485.3 RNA Sequence

    2. XR_007065291.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82968627..83080766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315747.1XP_054171722.1  coiled-coil domain-containing protein 57 isoform X11

    2. XM_054315746.1XP_054171721.1  coiled-coil domain-containing protein 57 isoform X10

    3. XM_054315745.1XP_054171720.1  coiled-coil domain-containing protein 57 isoform X8

    4. XM_054315744.1XP_054171719.1  coiled-coil domain-containing protein 57 isoform X6

    5. XM_054315741.1XP_054171716.1  coiled-coil domain-containing protein 57 isoform X3

    6. XM_054315750.1XP_054171725.1  coiled-coil domain-containing protein 57 isoform X27

    7. XM_054315753.1XP_054171728.1  coiled-coil domain-containing protein 57 isoform X20

    8. XM_054315743.1XP_054171718.1  coiled-coil domain-containing protein 57 isoform X26

    9. XM_054315742.1XP_054171717.1  coiled-coil domain-containing protein 57 isoform X5

    10. XM_054315752.1XP_054171727.1  coiled-coil domain-containing protein 57 isoform X19

    11. XM_054315748.1XP_054171723.1  coiled-coil domain-containing protein 57 isoform X14

    12. XM_054315751.1XP_054171726.1  coiled-coil domain-containing protein 57 isoform X17

    13. XM_054315749.1XP_054171724.1  coiled-coil domain-containing protein 57 isoform X15

    14. XM_054315754.1XP_054171729.1  coiled-coil domain-containing protein 57 isoform X23

    15. XM_054315755.1XP_054171730.1  coiled-coil domain-containing protein 57 isoform X24

    16. XM_054315756.1XP_054171731.1  coiled-coil domain-containing protein 57 isoform X25

    RNA

    1. XR_008484806.1 RNA Sequence

    2. XR_008484807.1 RNA Sequence

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