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    CCDC74A coiled-coil domain containing 74A [ Homo sapiens (human) ]

    Gene ID: 90557, updated on 10-Oct-2024

    Summary

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    Official Symbol
    CCDC74Aprovided by HGNC
    Official Full Name
    coiled-coil domain containing 74Aprovided by HGNC
    Primary source
    HGNC:HGNC:25197
    See related
    Ensembl:ENSG00000163040 AllianceGenome:HGNC:25197
    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
    Biased expression in testis (RPKM 20.6), adrenal (RPKM 5.0) and 10 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CCDC74A in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (131522592..131533666)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131957366..131968441)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (132285461..132291239)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mitotic spindle organizing protein 2A Neighboring gene hESC enhancers GRCh37_chr2:132249301-132250094 and GRCh37_chr2:132250095-132250888 Neighboring gene microRNA 4784 Neighboring gene sphingomyelin phosphodiesterase 4B, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132279157-132279881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132293270-132293826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132300775-132301276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132301277-132301776 Neighboring gene mediator complex subunit 15 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16536 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:132349769-132349979 Neighboring gene POTE ankyrin domain family member K, pseudogene Neighboring gene RNA, U6 small nuclear 617, 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. CCDC74A/B are K-fiber crosslinkers required for chromosomal alignment. Zhou H, et al. BMC Biol, 2019 Sep 14. PMID 31521166, Free PMC Article
    2. The design of coiled-coil structures and assemblies. Woolfson DN. Adv Protein Chem, 2005. PMID 15837514
    3. Coiled coils: a highly versatile protein folding motif. Burkhard P, et al. Trends Cell Biol, 2001 Feb. PMID 11166216
    4. Human ORFeome version 1.1: a platform for reverse proteomics. Rual JF, et al. Genome Res, 2004 Oct. PMID 15489335, Free PMC Article
    5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    • FLJ40345

    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 74A
    Names
    epididymis secretory sperm binding protein

    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_001258304.3 → NP_001245233.1  coiled-coil domain-containing protein 74A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB299086, BC016861, CV023784, DA375407
      UniProtKB/TrEMBL
      F1SW65
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 142
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:257 → 372
      CCDC74_C; Coiled coil protein 74, C terminal

    2. NM_001258305.3 → NP_001245234.1  coiled-coil domain-containing protein 74A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB299087, BC016861, CV023784, DA375407
      Consensus CDS
      CCDS74578.1
      UniProtKB/TrEMBL
      F1SW66, F5GZA4
      Related
      ENSP00000444610.2, ENST00000467992.6
      Conserved Domains (1) summary
      pfam14916
      Location:47 → 100
      CCDC92; Coiled-coil domain of unknown function

    3. NM_001258306.3 → NP_001245235.1  coiled-coil domain-containing protein 74A isoform 4

      See identical proteins and their annotated locations for NP_001245235.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      BC016861, BC063387, DA375407
      Consensus CDS
      CCDS58732.1
      UniProtKB/TrEMBL
      A0AAG2UVR1
      Related
      ENSP00000387009.3, ENST00000409856.8
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 100
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:197 → 309
      CCDC74_C; Coiled coil protein 74, C terminal

    4. NM_001349041.2 → NP_001335970.1  coiled-coil domain-containing protein 74A isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region which results in a frameshift, compared to variant 1. The encoded isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC093838, BC016861
      UniProtKB/TrEMBL
      F1SW66
      Conserved Domains (1) summary
      pfam14916
      Location:47 → 100
      CCDC92; Coiled-coil domain of unknown function

    5. NM_001349042.2 → NP_001335971.1  coiled-coil domain-containing protein 74A isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the 5' coding region but maintains the reading frame, compared to variant 1. The encoded isoform (6) is longer than isoform 1.
      Source sequence(s)
      AC093838, BC016861
      UniProtKB/TrEMBL
      A0AAG2UVY4
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 142
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:305 → 417
      CCDC74_C; Coiled coil protein 74, C terminal

    6. NM_001349043.2 → NP_001335972.1  coiled-coil domain-containing protein 74A isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses two alternate splice sites in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.
      Source sequence(s)
      AC093838, BC016861
      UniProtKB/TrEMBL
      A0AAG2UVR1
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 83
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:239 → 351
      CCDC74_C; Coiled coil protein 74, C terminal

    7. NM_001349044.2 → NP_001335973.1  coiled-coil domain-containing protein 74A isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) uses three alternate splice sites in the coding region, one of which results in a frameshift, compared to variant 1. The encoded isoform (8) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC093838, BC016861
      Conserved Domains (1) summary
      pfam14916
      Location:47 → 142
      CCDC92; Coiled-coil domain of unknown function

    8. NM_001349045.2 → NP_001335974.1  coiled-coil domain-containing protein 74A isoform 9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The encoded isoform (9) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC093838, BC016861
      UniProtKB/TrEMBL
      A0AAG2UW76
      Conserved Domains (1) summary
      pfam14916
      Location:47 → 83
      CCDC92; Coiled-coil domain of unknown function

    9. NM_001349046.2 → NP_001335975.1  coiled-coil domain-containing protein 74A isoform 10

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The encoded isoform (10) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC093838, BC016861
      Conserved Domains (1) summary
      pfam14916
      Location:47 → 100
      CCDC92; Coiled-coil domain of unknown function

    10. NM_001349047.2 → NP_001335976.1  coiled-coil domain-containing protein 74A isoform 11

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) uses two alternate splice sites in the coding region, one of which results in a frameshift, compared to variant 1. The encoded isoform (11) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC093838, BC016861
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 100
      CCDC92; Coiled-coil domain of unknown function
      cl26585
      Location:53 → 153
      DUF2130; Uncharacterized protein conserved in bacteria (DUF2130)

    11. NM_138770.4 → NP_620125.1  coiled-coil domain-containing protein 74A isoform 1

      See identical proteins and their annotated locations for NP_620125.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC016861, DA375407
      Consensus CDS
      CCDS2167.1
      UniProtKB/Swiss-Prot
      Q6P4I5, Q96AQ1
      UniProtKB/TrEMBL
      A0A384MR57, A0AAG2UVY4
      Related
      ENSP00000295171.6, ENST00000295171.10
      Conserved Domains (2) summary
      pfam14916
      Location:47 → 100
      CCDC92; Coiled-coil domain of unknown function
      pfam14917
      Location:263 → 375
      CCDC74_C; Coiled coil protein 74, C terminal

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      131522592..131533666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005241.2 → XP_016860730.1  coiled-coil domain-containing protein 74A isoform X12

    2. XM_017005244.2 → XP_016860733.1  coiled-coil domain-containing protein 74A isoform X16

    3. XM_017005234.3 → XP_016860723.1  coiled-coil domain-containing protein 74A isoform X2

      UniProtKB/TrEMBL
      A0AAG2UVY4

    4. XM_017005237.2 → XP_016860726.1  coiled-coil domain-containing protein 74A isoform X5

    5. XM_017005238.2 → XP_016860727.1  coiled-coil domain-containing protein 74A isoform X7

      UniProtKB/TrEMBL
      F1SW66

    6. XM_047446261.1 → XP_047302217.1  coiled-coil domain-containing protein 74A isoform X6

    7. XM_017005236.2 → XP_016860725.1  coiled-coil domain-containing protein 74A isoform X4

      UniProtKB/TrEMBL
      A0AAG2UVR1

    8. XM_017005235.2 → XP_016860724.1  coiled-coil domain-containing protein 74A isoform X3

      UniProtKB/TrEMBL
      A0AAG2UVY4

    9. XM_017005239.2 → XP_016860728.1  coiled-coil domain-containing protein 74A isoform X8

      UniProtKB/TrEMBL
      A0AAG2UVR1

    10. XM_047446264.1 → XP_047302220.1  coiled-coil domain-containing protein 74A isoform X11

    11. XM_047446262.1 → XP_047302218.1  coiled-coil domain-containing protein 74A isoform X9

    12. XM_047446263.1 → XP_047302219.1  coiled-coil domain-containing protein 74A isoform X10

    13. XM_047446265.1 → XP_047302221.1  coiled-coil domain-containing protein 74A isoform X13

    14. XM_047446266.1 → XP_047302222.1  coiled-coil domain-containing protein 74A isoform X14

    15. XM_047446267.1 → XP_047302223.1  coiled-coil domain-containing protein 74A isoform X15

    16. XM_005263836.5 → XP_005263893.1  coiled-coil domain-containing protein 74A isoform X1

      UniProtKB/TrEMBL
      B4DM14
      Conserved Domains (1) summary
      pfam14917
      Location:365 → 477
      CCDC74_C; Coiled coil protein 74, C terminal

    RNA

    1. XR_007084410.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      131957366..131968441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344462.1 → XP_054200437.1  coiled-coil domain-containing protein 74A isoform X18

    2. XM_054344466.1 → XP_054200441.1  coiled-coil domain-containing protein 74A isoform X19

    3. XM_054344457.1 → XP_054200432.1  coiled-coil domain-containing protein 74A isoform X6

    4. XM_054344459.1 → XP_054200434.1  coiled-coil domain-containing protein 74A isoform X17

    5. XM_054344461.1 → XP_054200436.1  coiled-coil domain-containing protein 74A isoform X11

    6. XM_054344458.1 → XP_054200433.1  coiled-coil domain-containing protein 74A isoform X9

    7. XM_054344460.1 → XP_054200435.1  coiled-coil domain-containing protein 74A isoform X10

    8. XM_054344463.1 → XP_054200438.1  coiled-coil domain-containing protein 74A isoform X13

    9. XM_054344464.1 → XP_054200439.1  coiled-coil domain-containing protein 74A isoform X14

    10. XM_054344465.1 → XP_054200440.1  coiled-coil domain-containing protein 74A isoform X15

    11. XM_054344456.1 → XP_054200431.1  coiled-coil domain-containing protein 74A isoform X1

    RNA

    1. XR_008486599.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96AQ1.1 GenPept UniProtKB/Swiss-Prot:Q96AQ1

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