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CCDC93 coiled-coil domain containing 93 [ Homo sapiens (human) ]

Gene ID: 54520, updated on 5-Aug-2022

Summary

Official Symbol
CCDC93provided by HGNC
Official Full Name
coiled-coil domain containing 93provided by HGNC
Primary source
HGNC:HGNC:25611
See related
Ensembl:ENSG00000125633 AllianceGenome:HGNC:25611
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 Golgi to plasma membrane transport and endocytic recycling. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 7.7), testis (RPKM 7.6) and 25 other tissues See more
Orthologs
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Genomic context

See CCDC93 in Genome Data Viewer
Location:
2q14.1
Exon count:
26
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (117915481..118014070, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (118348803..118447355, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (118673057..118771646, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985939 Neighboring gene 5-hydroxytryptamine receptor 5B, pseudogene Neighboring gene uncharacterized LOC101929908 Neighboring gene RNA, 7SL, cytoplasmic 111, pseudogene Neighboring gene uncharacterized LOC102723413

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10996, FLJ25197, MGC13033

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 Golgi to plasma membrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Golgi to plasma membrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in early endosome IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 93

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_019044.5NP_061917.3  coiled-coil domain-containing protein 93

    Status: VALIDATED

    Source sequence(s)
    AC009404, AY726577, BC012052, BC028609, BU621185
    Consensus CDS
    CCDS2121.2
    UniProtKB/Swiss-Prot
    Q567U6, Q9NV15
    Related
    ENSP00000365477.2, ENST00000376300.7
    Conserved Domains (2) summary
    pfam08202
    Location:212398
    MIS13; Mis12-Mtw1 protein family
    pfam09762
    Location:29206
    KOG2701; Coiled-coil domain-containing protein (DUF2037)

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    117915481..118014070 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511359.2XP_011509661.2  coiled-coil domain-containing protein 93 isoform X1

  2. XM_011511361.1XP_011509663.1  coiled-coil domain-containing protein 93 isoform X2

    Conserved Domains (1) summary
    pfam09762
    Location:1110
    KOG2701; Coiled-coil domain-containing protein (DUF2037)
  3. XM_047444816.1XP_047300772.1  coiled-coil domain-containing protein 93 isoform X3

  4. XM_006712600.3XP_006712663.2  coiled-coil domain-containing protein 93 isoform X5

  5. XM_011511363.3XP_011509665.2  coiled-coil domain-containing protein 93 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    118348803..118447355 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)