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

Gene ID: 284001, updated on 26-Oct-2022

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

See CCDC57 in Genome Data Viewer
Location:
17q25.3
Exon count:
27
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82101470..82212842, complement)
110 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 dihydrouridine synthase 1 like Neighboring gene fatty acid synthase Neighboring gene small nucleolar RNA, C/D box 134 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 9641 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr17:80163065-80163866 and GRCh37_chr17:80163867-80164668 Neighboring gene Sharpr-MPRA regulatory region 4733 Neighboring gene solute carrier family 16 member 3 Neighboring gene microRNA 6787

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

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
located_in spindle microtubule IDA
Inferred from Direct Assay
more info
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

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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)

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.