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    CCDC33 coiled-coil domain containing 33 [ Homo sapiens (human) ]

    Gene ID: 80125, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CCDC33provided by HGNC
    Official Full Name
    coiled-coil domain containing 33provided by HGNC
    Primary source
    HGNC:HGNC:26552
    See related
    Ensembl:ENSG00000140481 MIM:618525; AllianceGenome:HGNC:26552
    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
    CT61; CC2D3; HP11097
    Summary
    Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 3.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC33 in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74202999..74336472)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (72084401..72204223)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74528667..74628482)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74464796-74465784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74465785-74466772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74466773-74467761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74468869-74469385 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74473477-74474013 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74476518-74477717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74485815-74486316 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40898 Neighboring gene immunoglobulin superfamily containing leucine rich repeat Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74492227-74492862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74492863-74493496 Neighboring gene signaling receptor and transporter of retinol STRA6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74495400-74496033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74497519-74498180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74498181-74498842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74500829-74501490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74504651-74505191 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74510918-74511127 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74515727-74516464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74516465-74517202 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74524367-74525566 Neighboring gene uncharacterized LOC105370893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74526358-74526954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74531317-74531912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74531913-74532508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74536295-74536796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74537297-74538296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74555642-74556474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74556475-74557305 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74569034-74569758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74569759-74570483 Neighboring gene VISTA enhancer hs2614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74593043-74593864 Neighboring gene uncharacterized LOC124903525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74611467-74612377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74620529-74621030 Neighboring gene cytochrome P450 family 11 subfamily A member 1 Neighboring gene uncharacterized LOC124903524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6646 Neighboring gene CYP11A1 promoter region Neighboring gene peptidylprolyl isomerase A pseudogene 46

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Ccdc33, a predominantly testis-expressed gene, encodes a putative peroxisomal protein. Kaczmarek K, et al. Cytogenet Genome Res, 2009. PMID 20068295
    2. Protein interactions of the transcription factor Hoxa1. Lambert B, et al. BMC Dev Biol, 2012 Oct 22. PMID 23088713, Free PMC Article
    3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. Oshikawa M, et al. Invest Ophthalmol Vis Sci, 2011 Aug 22. PMID 21697133
    4. Shifted Transversal Design smart-pooling for high coverage interactome mapping. Xin X, et al. Genome Res, 2009 Jul. PMID 19447967, Free PMC Article
    5. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Data show that CCDC33-dsRED fusion protein co-localized with a known peroxisomal protein, namely PXT1, and showed punctuate intracellular distribution.
      Title: Ccdc33, a predominantly testis-expressed gene, encodes a putative peroxisomal protein.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23168, FLJ32855, MGC34145

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 33
    Names
    cancer/testis antigen 61
    hypothetical protein HP11097

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_054754.1 RefSeqGene

      Range
      38622..138437
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001287181.2 → NP_001274110.1  coiled-coil domain-containing protein 33 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains alternate exon structure in both its 5' and 3' regions, and it thus differs in both UTRs and in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (3) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AK026821, AK290709, BC025689
      Consensus CDS
      CCDS73753.1
      UniProtKB/Swiss-Prot
      Q8N5R6
      Related
      ENSP00000452817.1, ENST00000558821.5
      Conserved Domains (1) summary
      TIGR02169
      Location:24 → 167
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

    2. NM_025055.5 → NP_079331.3  coiled-coil domain-containing protein 33 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC023300, AI223423, AK057417, BC031684, DB049940
      Consensus CDS
      CCDS42058.1
      UniProtKB/Swiss-Prot
      Q8N5R6
      Related
      ENSP00000381795.3, ENST00000398814.8
      Conserved Domains (1) summary
      cd00030
      Location:37 → 132
      C2; C2 domain

    3. NM_182791.4 → NP_877592.2  coiled-coil domain-containing protein 33 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains alternate exon structure in both its 5' and 3' regions, and it thus differs in both UTRs and in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (2) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AK026821, AK290709, BC025689
      Consensus CDS
      CCDS42059.1
      UniProtKB/Swiss-Prot
      Q8N5R6
      Related
      ENSP00000268082.4, ENST00000268082.4
      Conserved Domains (1) summary
      TIGR02169
      Location:24 → 167
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal 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

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      74202999..74336472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433141.1 → XP_047289097.1  coiled-coil domain-containing protein 33 isoform X8

    2. XM_011522085.4 → XP_011520387.1  coiled-coil domain-containing protein 33 isoform X1

      UniProtKB/Swiss-Prot
      A8K3U4, A8MPQ6, A8MV61, A8MVU9, B3KQ49, Q8N5R6, Q8TAX6, Q9H5Q6
      Conserved Domains (2) summary
      cd00030
      Location:255 → 350
      C2; C2 domain
      pfam16046
      Location:592 → 727
      FAM76; FAM76 protein

    3. XM_017022624.2 → XP_016878113.1  coiled-coil domain-containing protein 33 isoform X3

      UniProtKB/Swiss-Prot
      A8K3U4, A8MPQ6, A8MV61, A8MVU9, B3KQ49, Q8N5R6, Q8TAX6, Q9H5Q6

    4. XM_017022625.2 → XP_016878114.1  coiled-coil domain-containing protein 33 isoform X4

      UniProtKB/Swiss-Prot
      A8K3U4, A8MPQ6, A8MV61, A8MVU9, B3KQ49, Q8N5R6, Q8TAX6, Q9H5Q6

    5. XM_017022627.2 → XP_016878116.1  coiled-coil domain-containing protein 33 isoform X6

      UniProtKB/Swiss-Prot
      A8K3U4, A8MPQ6, A8MV61, A8MVU9, B3KQ49, Q8N5R6, Q8TAX6, Q9H5Q6

    6. XM_017022623.2 → XP_016878112.1  coiled-coil domain-containing protein 33 isoform X2

      UniProtKB/Swiss-Prot
      A8K3U4, A8MPQ6, A8MV61, A8MVU9, B3KQ49, Q8N5R6, Q8TAX6, Q9H5Q6

    7. XM_017022628.2 → XP_016878117.1  coiled-coil domain-containing protein 33 isoform X7

      UniProtKB/Swiss-Prot
      A8K3U4, A8MPQ6, A8MV61, A8MVU9, B3KQ49, Q8N5R6, Q8TAX6, Q9H5Q6

    8. XM_017022626.3 → XP_016878115.1  coiled-coil domain-containing protein 33 isoform X5

      UniProtKB/Swiss-Prot
      A8K3U4, A8MPQ6, A8MV61, A8MVU9, B3KQ49, Q8N5R6, Q8TAX6, Q9H5Q6
      UniProtKB/TrEMBL
      A0A1B0GV97
      Related
      ENSP00000490425.2, ENST00000635913.2

    9. XM_047433142.1 → XP_047289098.1  coiled-coil domain-containing protein 33 isoform X9

    10. XM_017022631.2 → XP_016878120.1  coiled-coil domain-containing protein 33 isoform X13

    11. XM_017022630.2 → XP_016878119.1  coiled-coil domain-containing protein 33 isoform X12

    12. XM_011522087.2 → XP_011520389.1  coiled-coil domain-containing protein 33 isoform X11

      See identical proteins and their annotated locations for XP_011520389.1

      UniProtKB/TrEMBL
      H0YMB8
      Conserved Domains (1) summary
      cd00030
      Location:37 → 132
      C2; C2 domain

    13. XM_011522086.1 → XP_011520388.1  coiled-coil domain-containing protein 33 isoform X10

      UniProtKB/TrEMBL
      H0YMB8
      Related
      ENSP00000453542.1, ENST00000558659.5
      Conserved Domains (2) summary
      cd00030
      Location:43 → 138
      C2; C2 domain
      pfam16046
      Location:380 → 515
      FAM76; FAM76 protein

    14. XM_005254692.2 → XP_005254749.1  coiled-coil domain-containing protein 33 isoform X11

      See identical proteins and their annotated locations for XP_005254749.1

      UniProtKB/TrEMBL
      H0YMB8
      Conserved Domains (1) summary
      cd00030
      Location:37 → 132
      C2; C2 domain

    15. XM_011522089.4 → XP_011520391.1  coiled-coil domain-containing protein 33 isoform X14

      Conserved Domains (1) summary
      TIGR02169
      Location:135 → 278
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

    RNA

    1. XR_001751401.2 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160016.1 Reference GRCh38.p14 PATCHES

      Range
      45917..165741
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332563.1 → XP_054188538.1  coiled-coil domain-containing protein 33 isoform X12

    2. XM_054332552.1 → XP_054188527.1  coiled-coil domain-containing protein 33 isoform X1

    3. XM_054332554.1 → XP_054188529.1  coiled-coil domain-containing protein 33 isoform X3

    4. XM_054332555.1 → XP_054188530.1  coiled-coil domain-containing protein 33 isoform X4

    5. XM_054332553.1 → XP_054188528.1  coiled-coil domain-containing protein 33 isoform X2

    6. XM_054332556.1 → XP_054188531.1  coiled-coil domain-containing protein 33 isoform X5

      UniProtKB/TrEMBL
      A0A1B0GV97

    7. XM_054332564.1 → XP_054188539.1  coiled-coil domain-containing protein 33 isoform X13

    8. XM_054332557.1 → XP_054188532.1  coiled-coil domain-containing protein 33 isoform X6

    9. XM_054332558.1 → XP_054188533.1  coiled-coil domain-containing protein 33 isoform X7

    10. XM_054332559.1 → XP_054188534.1  coiled-coil domain-containing protein 33 isoform X9

    11. XM_054332562.1 → XP_054188537.1  coiled-coil domain-containing protein 33 isoform X11

    12. XM_054332560.1 → XP_054188535.1  coiled-coil domain-containing protein 33 isoform X10

    13. XM_054332561.1 → XP_054188536.1  coiled-coil domain-containing protein 33 isoform X11

    14. XM_054332565.1 → XP_054188540.1  coiled-coil domain-containing protein 33 isoform X14

    RNA

    1. XR_008485782.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      72084401..72204223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378914.1 → XP_054234889.1  coiled-coil domain-containing protein 33 isoform X12

    2. XM_054378903.1 → XP_054234878.1  coiled-coil domain-containing protein 33 isoform X1

    3. XM_054378905.1 → XP_054234880.1  coiled-coil domain-containing protein 33 isoform X3

    4. XM_054378906.1 → XP_054234881.1  coiled-coil domain-containing protein 33 isoform X4

    5. XM_054378908.1 → XP_054234883.1  coiled-coil domain-containing protein 33 isoform X6

    6. XM_054378904.1 → XP_054234879.1  coiled-coil domain-containing protein 33 isoform X2

    7. XM_054378909.1 → XP_054234884.1  coiled-coil domain-containing protein 33 isoform X7

    8. XM_054378907.1 → XP_054234882.1  coiled-coil domain-containing protein 33 isoform X5

    9. XM_054378915.1 → XP_054234890.1  coiled-coil domain-containing protein 33 isoform X13

    10. XM_054378910.1 → XP_054234885.1  coiled-coil domain-containing protein 33 isoform X9

    11. XM_054378913.1 → XP_054234888.1  coiled-coil domain-containing protein 33 isoform X11

    12. XM_054378911.1 → XP_054234886.1  coiled-coil domain-containing protein 33 isoform X10

    13. XM_054378912.1 → XP_054234887.1  coiled-coil domain-containing protein 33 isoform X11

    14. XM_054378916.1 → XP_054234891.1  coiled-coil domain-containing protein 33 isoform X14

    RNA

    1. XR_008489012.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_108023.1: Suppressed sequence

      Description
      NR_108023.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5R6.3 GenPept UniProtKB/Swiss-Prot:Q8N5R6

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