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

Gene ID: 90557, updated on 27-Nov-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
  • 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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