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

Gene ID: 284001, updated on 14-Aug-2021

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
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
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:
31
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (82101458..82212892, complement)
105.20201022 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 small nucleolar RNA, C/D box 134 Neighboring gene fatty acid synthase Neighboring gene Sharpr-MPRA regulatory region 14342 Neighboring gene solute carrier family 16 member 3 Neighboring gene microRNA 6787 Neighboring gene casein kinase 1 delta

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?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available

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 
Component Evidence Code Pubs
located_in centriolar satellite IDA
Inferred from Direct Assay
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
 
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_011521847.2
XP_011521848.1
XP_011521850.1
XP_011521851.1
XP_011521853.1
XP_011521854.1
XP_011521857.1
XP_011521858.2
XP_011521859.1
XP_016879951.1
XP_016879952.1
XP_016879953.1
XP_016879954.1
XP_016879955.1
XP_016879956.1
XP_016879957.1
XP_016879958.1
XP_016879959.1
XP_016879960.1
XP_016879961.1
XP_016879962.1
XP_016879963.1
XP_016879964.1
XP_016879965.1
XP_016879966.1
XP_016879967.1
XP_016879968.1
XP_016879969.1
XP_016879970.1
XP_016879971.1
XP_024306472.1

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_001316321.3NP_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
    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
    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
    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 Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    82101458..82212892 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024479.1XP_016879968.1  coiled-coil domain-containing protein 57 isoform X19

  2. XM_017024463.2XP_016879952.1  coiled-coil domain-containing protein 57 isoform X3

  3. XM_017024466.2XP_016879955.1  coiled-coil domain-containing protein 57 isoform X7

    Related
    ENSP00000499556.1, ENST00000665763.1
    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. XM_017024468.2XP_016879957.1  coiled-coil domain-containing protein 57 isoform X9

  5. XM_017024470.2XP_016879959.1  coiled-coil domain-containing protein 57 isoform X10

  6. XM_011523549.3XP_011521851.1  coiled-coil domain-containing protein 57 isoform X8

    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
  7. XM_024450704.1XP_024306472.1  coiled-coil domain-containing protein 57 isoform X14

    Conserved Domains (1) summary
    cl25732
    Location:16362
    SMC_N; RecF/RecN/SMC N terminal domain
  8. XM_011523548.3XP_011521850.1  coiled-coil domain-containing protein 57 isoform X8

    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
  9. XM_017024469.2XP_016879958.1  coiled-coil domain-containing protein 57 isoform X10

  10. XM_017024472.2XP_016879961.1  coiled-coil domain-containing protein 57 isoform X14

    Conserved Domains (1) summary
    cl25732
    Location:16362
    SMC_N; RecF/RecN/SMC N terminal domain
  11. XM_011523551.3XP_011521853.1  coiled-coil domain-containing protein 57 isoform X8

    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
  12. XM_017024467.2XP_016879956.1  coiled-coil domain-containing protein 57 isoform X8

    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
  13. XM_017024476.2XP_016879965.1  coiled-coil domain-containing protein 57 isoform X18

    Conserved Domains (1) summary
    TIGR02168
    Location:7344
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  14. XM_017024475.2XP_016879964.1  coiled-coil domain-containing protein 57 isoform X17

  15. XM_011523545.3XP_011521847.2  coiled-coil domain-containing protein 57 isoform X1

  16. XM_011523546.3XP_011521848.1  coiled-coil domain-containing protein 57 isoform X4

    Conserved Domains (2) summary
    COG1196
    Location:29371
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:242569
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  17. XM_017024478.2XP_016879967.1  coiled-coil domain-containing protein 57 isoform X18

    Conserved Domains (1) summary
    TIGR02168
    Location:7344
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  18. XM_017024471.2XP_016879960.1  coiled-coil domain-containing protein 57 isoform X12

  19. XM_017024477.2XP_016879966.1  coiled-coil domain-containing protein 57 isoform X18

    Conserved Domains (1) summary
    TIGR02168
    Location:7344
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  20. XM_011523552.3XP_011521854.1  coiled-coil domain-containing protein 57 isoform X11

    Conserved Domains (1) summary
    pfam03528
    Location:124565
    Rabaptin; Rabaptin
  21. XM_011523555.3XP_011521857.1  coiled-coil domain-containing protein 57 isoform X14

    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_011523557.3XP_011521859.1  coiled-coil domain-containing protein 57 isoform X18

    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
  23. XM_017024465.2XP_016879954.1  coiled-coil domain-containing protein 57 isoform X6

  24. XM_017024462.2XP_016879951.1  coiled-coil domain-containing protein 57 isoform X2

  25. XM_017024464.2XP_016879953.1  coiled-coil domain-containing protein 57 isoform X5

  26. XM_017024473.1XP_016879962.1  coiled-coil domain-containing protein 57 isoform X15

  27. XM_017024474.2XP_016879963.1  coiled-coil domain-containing protein 57 isoform X16

  28. XM_011523556.3XP_011521858.2  coiled-coil domain-containing protein 57 isoform X13

  29. XM_017024480.2XP_016879969.1  coiled-coil domain-containing protein 57 isoform X20

  30. XM_017024481.1XP_016879970.1  coiled-coil domain-containing protein 57 isoform X21

  31. XM_017024482.1XP_016879971.1  coiled-coil domain-containing protein 57 isoform X22

RNA

  1. XR_001752488.1 RNA Sequence

  2. XR_001752491.1 RNA Sequence

  3. XR_001752486.2 RNA Sequence

  4. XR_001752484.1 RNA Sequence

  5. XR_001752487.1 RNA Sequence

  6. XR_001752485.2 RNA Sequence

  7. XR_001752494.1 RNA Sequence

  8. XR_001752489.2 RNA Sequence

  9. XR_001752490.2 RNA Sequence

  10. XR_001752492.1 RNA Sequence

  11. XR_001752493.1 RNA Sequence

  12. XR_001752495.1 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.
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