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

Gene ID: 284001, updated on 7-Apr-2024

Summary

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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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 2.8), duodenum (RPKM 2.0) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
17q25.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82101470..82212842, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82968627..83080766, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. CCDC57 Cooperates with Microtubules and Microcephaly Protein CEP63 and Regulates Centriole Duplication and Mitotic Progression. Gurkaslar HK, et al. Cell Rep, 2020 May 12. PMID 32402286
  2. Identification of human protein interaction domains using an ORFeome-based yeast two-hybrid fragment library. Waaijers S, et al. J Proteome Res, 2013 Jul 5. PMID 23718855
  3. The lacrimal gland transcriptome is an unusually rich source of rare and poorly characterized gene transcripts. Ozyildirim AM, et al. Invest Ophthalmol Vis Sci, 2005 May. PMID 15851553
  4. A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components. Gorbea C, et al. J Biol Chem, 2010 Oct 8. PMID 20682791, Free PMC Article
  5. Proximity interactions among centrosome components identify regulators of centriole duplication. Firat-Karalar EN, et al. Curr Biol, 2014 Mar 17. PMID 24613305, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CCDC57 Cooperates with Microtubules and Microcephaly Protein CEP63 and Regulates Centriole Duplication and Mitotic Progression.
    Title: CCDC57 Cooperates with Microtubules and Microcephaly Protein CEP63 and Regulates Centriole Duplication and Mitotic Progression.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00130, FLJ23754, FLJ43953, MGC102869

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in G2/M transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in centriole replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in centriole replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in microtubule nucleation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microtubule nucleation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in centriolar satellite IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in spindle microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in spindle microtubule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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.

mRNA and Protein(s)

  1. NM_001316321.3 → NP_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:9 → 351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:222 → 549
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  2. NM_001367828.2 → NP_001354757.1  coiled-coil domain-containing protein 57 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC129510, AC132872, AC135056

  3. NM_001394669.1 → NP_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:811 → 1019
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:9 → 351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:222 → 549
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  4. NM_001394670.1 → NP_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:811 → 1019
    PHA03247; large tegument protein UL36; Provisional
    COG1196
    Location:9 → 351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:222 → 549
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  5. NM_198082.4 → NP_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:9 → 351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:222 → 549
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

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

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A590UJT6
    Related
    ENSP00000499556.1, ENST00000665763.1

  2. XM_047435773.1 → XP_047291729.1  coiled-coil domain-containing protein 57 isoform X10

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

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

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

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

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

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

  9. XM_011523549.4 → XP_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:9 → 351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:222 → 549
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  10. XM_011523548.4 → XP_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:9 → 351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:222 → 549
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  11. XM_017024469.3 → XP_016879958.1  coiled-coil domain-containing protein 57 isoform X12

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

  13. XM_011523551.4 → XP_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:9 → 351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:222 → 549
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  14. XM_047435766.1 → XP_047291722.1  coiled-coil domain-containing protein 57 isoform X4

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

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

    Conserved Domains (2) summary
    COG1196
    Location:9 → 351
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:222 → 549
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  17. XM_017024462.3 → XP_016879951.1  coiled-coil domain-containing protein 57 isoform X2

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

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

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

    Conserved Domains (1) summary
    cl25732
    Location:16 → 362
    SMC_N; RecF/RecN/SMC N terminal domain

  21. XM_011523555.4 → XP_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:16 → 362
    SMC_N; RecF/RecN/SMC N terminal domain

  22. XM_047435777.1 → XP_047291733.1  coiled-coil domain-containing protein 57 isoform X18

  23. XM_011523557.4 → XP_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:7 → 344
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  24. XM_047435778.1 → XP_047291734.1  coiled-coil domain-containing protein 57 isoform X19

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

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

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

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

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

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

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

  32. XM_047435783.1 → XP_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_054315747.1 → XP_054171722.1  coiled-coil domain-containing protein 57 isoform X11

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

RNA

  1. XR_008484806.1 RNA Sequence

  2. XR_008484807.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152675.1: Suppressed sequence

    Description
    NM_152675.1: This RefSeq was permanently suppressed because it contains the wrong (incomplete) CDS.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2TAC2.3 GenPept UniProtKB/Swiss-Prot:Q2TAC2

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