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CCDC68 coiled-coil domain containing 68 [ Homo sapiens (human) ]

Gene ID: 80323, updated on 5-Aug-2018

Summary

Official Symbol
CCDC68provided by HGNC
Official Full Name
coiled-coil domain containing 68provided by HGNC
Primary source
HGNC:HGNC:24350
See related
Ensembl:ENSG00000166510 MIM:616909; Vega:OTTHUMG00000132708
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
Also known as
SE57-1
Expression
Broad expression in placenta (RPKM 6.2), small intestine (RPKM 5.9) and 20 other tissues See more
Orthologs

Genomic context

See CCDC68 in Genome Data Viewer
Location:
18q21.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (54901509..54959539, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (52568740..52626739, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene dynactin associated protein Neighboring gene RAB27B, member RAS oncogene family Neighboring gene ribosomal protein SA pseudogene 57 Neighboring gene microtubule associated protein 1 light chain 3 pseudogene Neighboring gene uncharacterized LOC107985125 Neighboring gene VISTA enhancer hs1013

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies five new schizophrenia loci.
NHGRI GWA Catalog
Genome-wide meta-analysis for severe diabetic retinopathy.
NHGRI GWA Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25368

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule anchoring at centrosome IGI
Inferred from Genetic Interaction
more info
PubMed 
microtubule anchoring at centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriolar subdistal appendage IDA
Inferred from Direct Assay
more info
PubMed 
centriole IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 68
Names
CTCL tumor antigen se57-1
CTCL-associated antigen se57-1
cutaneous T-cell lymphoma associated antigen
cutaneous T-cell lymphoma-associated antigen se57-1

NCBI Reference Sequences (RefSeq)

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_001143829.1NP_001137301.1  coiled-coil domain-containing protein 68

    See identical proteins and their annotated locations for NP_001137301.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC098848, AI823801, AK058097
    Consensus CDS
    CCDS11959.1
    UniProtKB/Swiss-Prot
    Q9H2F9
    UniProtKB/TrEMBL
    A0A024R2B9
    Related
    ENSP00000337209.3, OTTHUMP00000262500, ENST00000337363.8, OTTHUMT00000448364
    Conserved Domains (1) summary
    cl25732
    Location:93300
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_025214.2NP_079490.1  coiled-coil domain-containing protein 68

    See identical proteins and their annotated locations for NP_079490.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC098848, AI823801
    Consensus CDS
    CCDS11959.1
    UniProtKB/Swiss-Prot
    Q9H2F9
    UniProtKB/TrEMBL
    A0A024R2B9
    Related
    ENSP00000466690.1, OTTHUMP00000163560, ENST00000591504.5, OTTHUMT00000256006
    Conserved Domains (1) summary
    cl25732
    Location:93300
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    54901509..54959539 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026011.1XP_016881500.1  coiled-coil domain-containing protein 68 isoform X3

    Conserved Domains (1) summary
    pfam08702
    Location:114247
    Fib_alpha; Fibrinogen alpha/beta chain family
  2. XM_011526202.1XP_011524504.1  coiled-coil domain-containing protein 68 isoform X2

    Conserved Domains (1) summary
    COG1196
    Location:133291
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  3. XM_011526203.2XP_011524505.1  coiled-coil domain-containing protein 68 isoform X3

    Conserved Domains (1) summary
    pfam08702
    Location:114247
    Fib_alpha; Fibrinogen alpha/beta chain family
  4. XM_011526199.2XP_011524501.1  coiled-coil domain-containing protein 68 isoform X1

    See identical proteins and their annotated locations for XP_011524501.1

    UniProtKB/Swiss-Prot
    Q9H2F9
    UniProtKB/TrEMBL
    A0A024R2B9
    Conserved Domains (1) summary
    cl25732
    Location:93300
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_011526200.2XP_011524502.1  coiled-coil domain-containing protein 68 isoform X1

    See identical proteins and their annotated locations for XP_011524502.1

    UniProtKB/Swiss-Prot
    Q9H2F9
    UniProtKB/TrEMBL
    A0A024R2B9
    Conserved Domains (1) summary
    cl25732
    Location:93300
    SMC_N; RecF/RecN/SMC N terminal domain
  6. XM_006722552.3XP_006722615.1  coiled-coil domain-containing protein 68 isoform X1

    See identical proteins and their annotated locations for XP_006722615.1

    UniProtKB/Swiss-Prot
    Q9H2F9
    UniProtKB/TrEMBL
    A0A024R2B9
    Conserved Domains (1) summary
    cl25732
    Location:93300
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_011526201.2XP_011524503.1  coiled-coil domain-containing protein 68 isoform X1

    See identical proteins and their annotated locations for XP_011524503.1

    UniProtKB/Swiss-Prot
    Q9H2F9
    UniProtKB/TrEMBL
    A0A024R2B9
    Conserved Domains (1) summary
    cl25732
    Location:93300
    SMC_N; RecF/RecN/SMC N terminal domain
  8. XM_011526198.2XP_011524500.1  coiled-coil domain-containing protein 68 isoform X1

    See identical proteins and their annotated locations for XP_011524500.1

    UniProtKB/Swiss-Prot
    Q9H2F9
    UniProtKB/TrEMBL
    A0A024R2B9
    Conserved Domains (1) summary
    cl25732
    Location:93300
    SMC_N; RecF/RecN/SMC N terminal domain
  9. XM_011526204.3XP_011524506.1  coiled-coil domain-containing protein 68 isoform X4

    Conserved Domains (1) summary
    PRK12724
    Location:94229
    PRK12724; flagellar biosynthesis regulator FlhF; Provisional
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