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

Gene ID: 80125, updated on 2-Nov-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, Nov 2024]
Expression
Restricted expression toward testis (RPKM 3.1) See more
Orthologs
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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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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)

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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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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