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    CCDC157 coiled-coil domain containing 157 [ Homo sapiens (human) ]

    Gene ID: 550631, updated on 17-Sep-2024

    Summary

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    Official Symbol
    CCDC157provided by HGNC
    Official Full Name
    coiled-coil domain containing 157provided by HGNC
    Primary source
    HGNC:HGNC:33854
    See related
    Ensembl:ENSG00000187860 MIM:619391; AllianceGenome:HGNC:33854
    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
    Expression
    Broad expression in testis (RPKM 7.5), kidney (RPKM 0.9) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC157 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30356624..30378673)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (30819964..30842006)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (30752613..30774662)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18831 Neighboring gene cytosolic arginine sensor for mTORC1 subunit 1 Neighboring gene TBC1 domain family member 10A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30700665-30701164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18836 Neighboring gene origin of replication in TBC1D10A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:30721337-30722286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13608 Neighboring gene splicing factor 3a subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30753765-30754364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30766725-30767224 Neighboring gene KIAA1656 protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13610 Neighboring gene ring finger protein 215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30797780-30798280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:30798281-30798781 Neighboring gene SEC14 like lipid binding 2 Neighboring gene Sharpr-MPRA regulatory region 13809 Neighboring gene RNA, U6 small nuclear 564, pseudogene

    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. CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia-related mutations in men. Zheng H, et al. J Cell Mol Med, 2024 Apr. PMID 38509755, Free PMC Article
    2. New factors for protein transport identified by a genome-wide CRISPRi screen in mammalian cells. Bassaganyas L, et al. J Cell Biol, 2019 Nov 4. PMID 31488582, Free PMC Article
    3. Drosophila Pif1A is essential for spermatogenesis and is the homolog of human CCDC157, a gene associated with idiopathic NOA. Yuan X, et al. Cell Death Dis, 2019 Feb 11. PMID 30741974, Free PMC Article
    4. Genetics of coronary artery calcification among African Americans, a meta-analysis. Wojczynski MK, et al. BMC Med Genet, 2013 Jul 19. PMID 23870195, Free PMC Article
    5. Cullin-3/KCTD10 complex is essential for K27-polyubiquitination of EIF3D in human hepatocellular carcinoma HepG2 cells. Maekawa M, et al. Biochem Biophys Res Commun, 2019 Sep 3. PMID 31280863

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia-related mutations in men.
      Title: CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia-related mutations in men.
    2. The CCDC157 is localized along the secretory pathway and was found to interact with resident proteins of ER-Golgi membranes.
      Title: New factors for protein transport identified by a genome-wide CRISPRi screen in mammalian cells.
    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
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 157

    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_001017437.5 → NP_001017437.3  coiled-coil domain-containing protein 157 isoform 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 isoform (1).
      Source sequence(s)
      AC004997
      Consensus CDS
      CCDS33632.2
      UniProtKB/Swiss-Prot
      Q0VD76, Q569K6, Q9BYA4
      Related
      ENSP00000343087.3, ENST00000338306.8
      Conserved Domains (2) summary
      PHA03247
      Location:630 → 751
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:277 → 522
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    2. NM_001318334.2 → NP_001305263.2  coiled-coil domain-containing protein 157 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC004997
      Consensus CDS
      CCDS33632.2
      UniProtKB/Swiss-Prot
      Q0VD76, Q569K6, Q9BYA4
      Related
      ENSP00000385357.1, ENST00000405659.5
      Conserved Domains (2) summary
      PHA03247
      Location:630 → 751
      PHA03247; large tegument protein UL36; Provisional
      COG1196
      Location:277 → 522
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    3. NM_001318335.2 → NP_001305264.1  coiled-coil domain-containing protein 157 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC004997, BC018040, DA647196
      Consensus CDS
      CCDS82707.1
      UniProtKB/TrEMBL
      A8MUK5
      Related
      ENSP00000382720.2, ENST00000399824.6

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      30356624..30378673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530263.4 → XP_011528565.1  coiled-coil domain-containing protein 157 isoform X1

      See identical proteins and their annotated locations for XP_011528565.1

      Conserved Domains (2) summary
      pfam05956
      Location:635 → 730
      APC_basic; APC basic domain
      cl25732
      Location:277 → 522
      SMC_N; RecF/RecN/SMC N terminal domain

    2. XM_024452258.2 → XP_024308026.1  coiled-coil domain-containing protein 157 isoform X1

      Conserved Domains (2) summary
      pfam05956
      Location:635 → 730
      APC_basic; APC basic domain
      cl25732
      Location:277 → 522
      SMC_N; RecF/RecN/SMC N terminal domain

    3. XM_047441442.1 → XP_047297398.1  coiled-coil domain-containing protein 157 isoform X5

    4. XM_006724278.5 → XP_006724341.1  coiled-coil domain-containing protein 157 isoform X1

      See identical proteins and their annotated locations for XP_006724341.1

      Conserved Domains (2) summary
      pfam05956
      Location:635 → 730
      APC_basic; APC basic domain
      cl25732
      Location:277 → 522
      SMC_N; RecF/RecN/SMC N terminal domain

    5. XM_047441441.1 → XP_047297397.1  coiled-coil domain-containing protein 157 isoform X3

    6. XM_006724279.5 → XP_006724342.1  coiled-coil domain-containing protein 157 isoform X2

      Conserved Domains (2) summary
      pfam05816
      Location:426 → 524
      TelA; Toxic anion resistance protein (TelA)
      cl03951
      Location:278 → 367
      CDC37_N; Cdc37 N terminal kinase binding

    7. XM_006724280.5 → XP_006724343.1  coiled-coil domain-containing protein 157 isoform X5

      Conserved Domains (2) summary
      pfam05816
      Location:426 → 524
      TelA; Toxic anion resistance protein (TelA)
      cl03951
      Location:278 → 367
      CDC37_N; Cdc37 N terminal kinase binding

    8. XM_024452259.2 → XP_024308027.1  coiled-coil domain-containing protein 157 isoform X4

      Conserved Domains (2) summary
      pfam05956
      Location:544 → 639
      APC_basic; APC basic domain
      cl25732
      Location:186 → 431
      SMC_N; RecF/RecN/SMC N terminal domain

    9. XM_011530266.4 → XP_011528568.1  coiled-coil domain-containing protein 157 isoform X6

      Conserved Domains (2) summary
      pfam05816
      Location:426 → 524
      TelA; Toxic anion resistance protein (TelA)
      cl03951
      Location:278 → 367
      CDC37_N; Cdc37 N terminal kinase binding

    10. XM_011530267.4 → XP_011528569.1  coiled-coil domain-containing protein 157 isoform X7

      Conserved Domains (2) summary
      pfam05816
      Location:426 → 524
      TelA; Toxic anion resistance protein (TelA)
      cl03951
      Location:278 → 367
      CDC37_N; Cdc37 N terminal kinase binding

    11. XM_011530268.4 → XP_011528570.1  coiled-coil domain-containing protein 157 isoform X8

      Conserved Domains (1) summary
      cl03951
      Location:278 → 367
      CDC37_N; Cdc37 N terminal kinase binding

    12. XM_011530270.4 → XP_011528572.1  coiled-coil domain-containing protein 157 isoform X10

      Conserved Domains (1) summary
      cl03951
      Location:278 → 367
      CDC37_N; Cdc37 N terminal kinase binding

    13. XM_011530269.3 → XP_011528571.1  coiled-coil domain-containing protein 157 isoform X9

      Conserved Domains (1) summary
      pfam05816
      Location:70 → 168
      TelA; Toxic anion resistance protein (TelA)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      30819964..30842006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325775.1 → XP_054181750.1  coiled-coil domain-containing protein 157 isoform X1

    2. XM_054325781.1 → XP_054181756.1  coiled-coil domain-containing protein 157 isoform X5

    3. XM_054325774.1 → XP_054181749.1  coiled-coil domain-containing protein 157 isoform X1

    4. XM_054325777.1 → XP_054181752.1  coiled-coil domain-containing protein 157 isoform X2

    5. XM_054325780.1 → XP_054181755.1  coiled-coil domain-containing protein 157 isoform X5

    6. XM_054325779.1 → XP_054181754.1  coiled-coil domain-containing protein 157 isoform X4

    7. XM_054325778.1 → XP_054181753.1  coiled-coil domain-containing protein 157 isoform X3

    8. XM_054325782.1 → XP_054181757.1  coiled-coil domain-containing protein 157 isoform X6

    9. XM_054325783.1 → XP_054181758.1  coiled-coil domain-containing protein 157 isoform X7

    10. XM_054325784.1 → XP_054181759.1  coiled-coil domain-containing protein 157 isoform X8

    11. XM_054325786.1 → XP_054181761.1  coiled-coil domain-containing protein 157 isoform X10

    12. XM_054325776.1 → XP_054181751.1  coiled-coil domain-containing protein 157 isoform X1

    13. XM_054325785.1 → XP_054181760.1  coiled-coil domain-containing protein 157 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q569K6.3 GenPept UniProtKB/Swiss-Prot:Q569K6

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