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

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, Nov 2024]
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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-149799 (e-PCR)
- UniSTS:183053

D10S273 (e-PCR)
- UniSTS:147990

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-148294 (e-PCR)
- UniSTS:172975

SHGC-147232 (e-PCR)
- UniSTS:172776

D5S1597E (e-PCR)
- UniSTS:151019

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

EC 4.2.1.59

NP_001354757.1

EC 4.2.1.59

NP_001381598.1

EC 4.2.1.59

NP_001381599.1

EC 4.2.1.59

NP_932348.2

EC 4.2.1.59

XP_011521850.1

EC 4.2.1.59

XP_011521851.1

EC 4.2.1.59

XP_011521853.1

EC 4.2.1.59

XP_011521857.1

EC 4.2.1.59

XP_011521859.1

EC 4.2.1.59

XP_016879951.1

EC 4.2.1.59

XP_016879952.2

EC 4.2.1.59

XP_016879953.2

EC 4.2.1.59

XP_016879956.1

EC 4.2.1.59

XP_016879958.1

EC 4.2.1.59

XP_016879962.2

EC 4.2.1.59

XP_016879963.2

EC 4.2.1.59

XP_024306472.1

EC 4.2.1.59

XP_047291721.1

EC 4.2.1.59

XP_047291722.1

EC 4.2.1.59

XP_047291723.1

EC 4.2.1.59

XP_047291724.1

EC 4.2.1.59

XP_047291725.1

EC 4.2.1.59

XP_047291726.1

EC 4.2.1.59

XP_047291727.1

EC 4.2.1.59

XP_047291728.1

EC 4.2.1.59

XP_047291729.1

EC 4.2.1.59

XP_047291730.1

EC 4.2.1.59

XP_047291731.1

EC 4.2.1.59

XP_047291732.1

EC 4.2.1.59

XP_047291733.1

EC 4.2.1.59

XP_047291734.1

EC 4.2.1.59

XP_047291735.1

EC 4.2.1.59

XP_047291736.1

EC 4.2.1.59

XP_047291737.1

EC 4.2.1.59

XP_047291738.1

EC 4.2.1.59

XP_047291739.1

EC 4.2.1.59

XP_054171716.1

EC 4.2.1.59

XP_054171717.1

EC 4.2.1.59

XP_054171718.1

EC 4.2.1.59

XP_054171719.1

EC 4.2.1.59

XP_054171720.1

EC 4.2.1.59

XP_054171721.1

EC 4.2.1.59

XP_054171722.1

EC 4.2.1.59

XP_054171723.1

EC 4.2.1.59

XP_054171724.1

EC 4.2.1.59

XP_054171725.1

EC 4.2.1.59

XP_054171726.1

EC 4.2.1.59

XP_054171727.1

EC 4.2.1.59

XP_054171728.1

EC 4.2.1.59

XP_054171729.1

EC 4.2.1.59

XP_054171730.1

EC 4.2.1.59

XP_054171731.1

EC 4.2.1.59

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)

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

Status: VALIDATED

Source sequence(s)

AC129510, AC132872, AC135056
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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

82101470..82212842 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A590UJT6

Related

ENSP00000499556.1, ENST00000665763.1
XM_047435773.1 → XP_047291729.1 coiled-coil domain-containing protein 57 isoform X10
XM_047435770.1 → XP_047291726.1 coiled-coil domain-containing protein 57 isoform X8
XM_047435769.1 → XP_047291725.1 coiled-coil domain-containing protein 57 isoform X6
XM_017024463.3 → XP_016879952.2 coiled-coil domain-containing protein 57 isoform X3
XM_047435775.1 → XP_047291731.1 coiled-coil domain-containing protein 57 isoform X16
XM_047435779.1 → XP_047291735.1 coiled-coil domain-containing protein 57 isoform X20
XM_047435772.1 → XP_047291728.1 coiled-coil domain-containing protein 57 isoform X9
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
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
XM_017024469.3 → XP_016879958.1 coiled-coil domain-containing protein 57 isoform X12
XM_047435771.1 → XP_047291727.1 coiled-coil domain-containing protein 57 isoform X9
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
XM_047435766.1 → XP_047291722.1 coiled-coil domain-containing protein 57 isoform X4
XM_047435768.1 → XP_047291724.1 coiled-coil domain-containing protein 57 isoform X4
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
XM_017024462.3 → XP_016879951.1 coiled-coil domain-containing protein 57 isoform X2
XM_047435765.1 → XP_047291721.1 coiled-coil domain-containing protein 57 isoform X1
XM_047435767.1 → XP_047291723.1 coiled-coil domain-containing protein 57 isoform X4
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
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
XM_047435777.1 → XP_047291733.1 coiled-coil domain-containing protein 57 isoform X18
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
XM_047435778.1 → XP_047291734.1 coiled-coil domain-containing protein 57 isoform X19
XM_017024473.2 → XP_016879962.2 coiled-coil domain-containing protein 57 isoform X14
XM_017024464.3 → XP_016879953.2 coiled-coil domain-containing protein 57 isoform X5
XM_047435776.1 → XP_047291732.1 coiled-coil domain-containing protein 57 isoform X17
XM_017024474.3 → XP_016879963.2 coiled-coil domain-containing protein 57 isoform X15
XM_047435780.1 → XP_047291736.1 coiled-coil domain-containing protein 57 isoform X21
XM_047435781.1 → XP_047291737.1 coiled-coil domain-containing protein 57 isoform X23
XM_047435782.1 → XP_047291738.1 coiled-coil domain-containing protein 57 isoform X24
XM_047435783.1 → XP_047291739.1 coiled-coil domain-containing protein 57 isoform X25

RNA

XR_001752485.3 RNA Sequence
XR_007065291.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

82968627..83080766 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054315747.1 → XP_054171722.1 coiled-coil domain-containing protein 57 isoform X11
XM_054315746.1 → XP_054171721.1 coiled-coil domain-containing protein 57 isoform X10
XM_054315745.1 → XP_054171720.1 coiled-coil domain-containing protein 57 isoform X8
XM_054315744.1 → XP_054171719.1 coiled-coil domain-containing protein 57 isoform X6
XM_054315741.1 → XP_054171716.1 coiled-coil domain-containing protein 57 isoform X3
XM_054315750.1 → XP_054171725.1 coiled-coil domain-containing protein 57 isoform X27
XM_054315753.1 → XP_054171728.1 coiled-coil domain-containing protein 57 isoform X20
XM_054315743.1 → XP_054171718.1 coiled-coil domain-containing protein 57 isoform X26
XM_054315742.1 → XP_054171717.1 coiled-coil domain-containing protein 57 isoform X5
XM_054315752.1 → XP_054171727.1 coiled-coil domain-containing protein 57 isoform X19
XM_054315748.1 → XP_054171723.1 coiled-coil domain-containing protein 57 isoform X14
XM_054315751.1 → XP_054171726.1 coiled-coil domain-containing protein 57 isoform X17
XM_054315749.1 → XP_054171724.1 coiled-coil domain-containing protein 57 isoform X15
XM_054315754.1 → XP_054171729.1 coiled-coil domain-containing protein 57 isoform X23
XM_054315755.1 → XP_054171730.1 coiled-coil domain-containing protein 57 isoform X24
XM_054315756.1 → XP_054171731.1 coiled-coil domain-containing protein 57 isoform X25