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

Gene ID: 550631, updated on 27-Nov-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
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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
  • 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)

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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