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CCDC171 coiled-coil domain containing 171 [ Homo sapiens (human) ]

Gene ID: 203238, updated on 5-Mar-2024

Summary

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Official Symbol
CCDC171provided by HGNC
Official Full Name
coiled-coil domain containing 171provided by HGNC
Primary source
HGNC:HGNC:29828
See related
Ensembl:ENSG00000164989 AllianceGenome:HGNC:29828
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
C9orf93; bA536D16.1; bA778P13.1
Expression
Broad expression in testis (RPKM 2.4), endometrium (RPKM 0.9) and 17 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
9p22.3
Exon count:
47
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (15552885..16108926)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (15564343..16121126)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (15553041..15974037)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:15532576-15533116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:15533117-15533656 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:15552638-15553283 Neighboring gene RNA, U6 small nuclear 246, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:15618475-15618974 Neighboring gene ferritin heavy chain 1 pseudogene 12 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 16 Neighboring gene uncharacterized LOC107987049 Neighboring gene RNA, U6 small nuclear 14, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:16030074-16031273 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:16036253-16036508 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:16060174-16061373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:16179471-16179971 Neighboring gene NANOG hESC enhancer GRCh37_chr9:16243838-16244339 Neighboring gene long intergenic non-protein coding RNA 3041 Neighboring gene uncharacterized LOC124902124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:16322644-16323144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:16329447-16330006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19788 Neighboring gene uncharacterized LOC124902125 Neighboring gene basonuclin zinc finger protein 2

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. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. Luo J, et al. Cell, 2009 May 29. PMID 19490893, Free PMC Article
  2. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
  3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
  4. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

See all (9) citations in PubMed

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.
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

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

Clone Names

  • FLJ39267, FLJ46740, MGC50805, DKFZp686P12113

General protein information

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Preferred Names
coiled-coil domain-containing protein 171
Names
myosin tail domain containing 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.

Genomic

  1. NG_052634.2 RefSeqGene

    Range
    5160..426154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001348002.2 → NP_001334931.1  coiled-coil domain-containing protein 171 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon near the 5' end, and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. These differences result in a novel 5' UTR and the the use of an alternate start codon compared to variant 1. The encoded isoform (2) is shorter, and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AI243499, AL359877, AL513423, AL592153, AL662788, CR936775
    Conserved Domains (1) summary
    cl25732
    Location:39 → 703
    SMC_N; RecF/RecN/SMC N terminal domain

  2. NM_001355547.1 → NP_001342476.1  coiled-coil domain-containing protein 171 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (3) has the same N- and C-termini, but is longer than isoform 1.
    Source sequence(s)
    AI243499, AK128581, AW188326, AY422473, BC150600, BX537933
    Conserved Domains (1) summary
    cl25732
    Location:60 → 796
    SMC_N; RecF/RecN/SMC N terminal domain

  3. NM_173550.4 → NP_775821.2  coiled-coil domain-containing protein 171 isoform 1

    See identical proteins and their annotated locations for NP_775821.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI243499, AK128581, AL592153, AY422473, CR936775
    Consensus CDS
    CCDS6481.1
    UniProtKB/Swiss-Prot
    B7ZM22, Q5SU58, Q6P1W1, Q6TFL3, Q6ZR13, Q8N1Z4, Q8N8L3, Q8TBR2
    Related
    ENSP00000370077.3, ENST00000380701.8
    Conserved Domains (1) summary
    TIGR02168
    Location:60 → 788
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    15552885..16108926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422930.1 → XP_047278886.1  coiled-coil domain-containing protein 171 isoform X1

  2. XM_047422935.1 → XP_047278891.1  coiled-coil domain-containing protein 171 isoform X5

  3. XM_005251397.3 → XP_005251454.1  coiled-coil domain-containing protein 171 isoform X1

    See identical proteins and their annotated locations for XP_005251454.1

    UniProtKB/Swiss-Prot
    Q6TFL3
    Conserved Domains (1) summary
    cl25732
    Location:60 → 796
    SMC_N; RecF/RecN/SMC N terminal domain

  4. XM_047422933.1 → XP_047278889.1  coiled-coil domain-containing protein 171 isoform X6

  5. XM_047422931.1 → XP_047278887.1  coiled-coil domain-containing protein 171 isoform X5

  6. XM_017014437.3 → XP_016869926.1  coiled-coil domain-containing protein 171 isoform X9

  7. XM_017014432.3 → XP_016869921.1  coiled-coil domain-containing protein 171 isoform X3

  8. XM_005251399.5 → XP_005251456.1  coiled-coil domain-containing protein 171 isoform X1

    See identical proteins and their annotated locations for XP_005251456.1

    UniProtKB/Swiss-Prot
    Q6TFL3
    Conserved Domains (1) summary
    cl25732
    Location:60 → 796
    SMC_N; RecF/RecN/SMC N terminal domain

  9. XM_047422934.1 → XP_047278890.1  coiled-coil domain-containing protein 171 isoform X5

  10. XM_017014431.3 → XP_016869920.1  coiled-coil domain-containing protein 171 isoform X2

    Conserved Domains (2) summary
    COG1196
    Location:455 → 1170
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:60 → 796
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  11. XM_005251398.5 → XP_005251455.1  coiled-coil domain-containing protein 171 isoform X1

    See identical proteins and their annotated locations for XP_005251455.1

    UniProtKB/Swiss-Prot
    Q6TFL3
    Conserved Domains (1) summary
    cl25732
    Location:60 → 796
    SMC_N; RecF/RecN/SMC N terminal domain

  12. XM_017014435.3 → XP_016869924.1  coiled-coil domain-containing protein 171 isoform X7

    Conserved Domains (2) summary
    COG1196
    Location:455 → 1170
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:60 → 796
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  13. XM_017014434.3 → XP_016869923.1  coiled-coil domain-containing protein 171 isoform X6

    Conserved Domains (2) summary
    COG1196
    Location:455 → 1202
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:60 → 796
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  14. XM_011517791.4 → XP_011516093.1  coiled-coil domain-containing protein 171 isoform X5

    Conserved Domains (2) summary
    COG1196
    Location:411 → 1126
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:56 → 752
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  15. XM_047422938.1 → XP_047278894.1  coiled-coil domain-containing protein 171 isoform X13

  16. XM_047422936.1 → XP_047278892.1  coiled-coil domain-containing protein 171 isoform X11

  17. XM_017014436.3 → XP_016869925.1  coiled-coil domain-containing protein 171 isoform X8

    Conserved Domains (2) summary
    COG1196
    Location:455 → 1170
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:60 → 796
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  18. XM_017014433.3 → XP_016869922.1  coiled-coil domain-containing protein 171 isoform X4

  19. XM_017014438.3 → XP_016869927.1  coiled-coil domain-containing protein 171 isoform X10

  20. XM_017014442.3 → XP_016869931.1  coiled-coil domain-containing protein 171 isoform X14

  21. XM_047422939.1 → XP_047278895.1  coiled-coil domain-containing protein 171 isoform X15

  22. XM_011517788.3 → XP_011516090.1  coiled-coil domain-containing protein 171 isoform X1

    See identical proteins and their annotated locations for XP_011516090.1

    UniProtKB/Swiss-Prot
    Q6TFL3
    Conserved Domains (1) summary
    cl25732
    Location:60 → 796
    SMC_N; RecF/RecN/SMC N terminal domain

  23. XM_047422932.1 → XP_047278888.1  coiled-coil domain-containing protein 171 isoform X5

  24. XM_047422937.1 → XP_047278893.1  coiled-coil domain-containing protein 171 isoform X11

  25. XM_011517796.4 → XP_011516098.1  coiled-coil domain-containing protein 171 isoform X17

    Conserved Domains (1) summary
    TIGR02168
    Location:2 → 639
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  26. XM_017014440.2 → XP_016869929.1  coiled-coil domain-containing protein 171 isoform X12

    Conserved Domains (1) summary
    cl25732
    Location:39 → 703
    SMC_N; RecF/RecN/SMC N terminal domain

  27. XM_017014443.2 → XP_016869932.1  coiled-coil domain-containing protein 171 isoform X16

RNA

  1. XR_007061261.1 RNA Sequence

  2. XR_001746227.3 RNA Sequence

  3. XR_001746228.3 RNA Sequence

  4. XR_007061262.1 RNA Sequence

  5. XR_001746229.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    15564343..16121126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362274.1 → XP_054218249.1  coiled-coil domain-containing protein 171 isoform X1

  2. XM_054362283.1 → XP_054218258.1  coiled-coil domain-containing protein 171 isoform X6

  3. XM_054362281.1 → XP_054218256.1  coiled-coil domain-containing protein 171 isoform X5

  4. XM_054362275.1 → XP_054218250.1  coiled-coil domain-containing protein 171 isoform X1

  5. XM_054362285.1 → XP_054218260.1  coiled-coil domain-containing protein 171 isoform X5

  6. XM_054362288.1 → XP_054218263.1  coiled-coil domain-containing protein 171 isoform X9

  7. XM_054362277.1 → XP_054218252.1  coiled-coil domain-containing protein 171 isoform X3

  8. XM_054362272.1 → XP_054218247.1  coiled-coil domain-containing protein 171 isoform X1

  9. XM_054362284.1 → XP_054218259.1  coiled-coil domain-containing protein 171 isoform X5

  10. XM_054362276.1 → XP_054218251.1  coiled-coil domain-containing protein 171 isoform X2

  11. XM_054362271.1 → XP_054218246.1  coiled-coil domain-containing protein 171 isoform X1

  12. XM_054362286.1 → XP_054218261.1  coiled-coil domain-containing protein 171 isoform X7

  13. XM_054362280.1 → XP_054218255.1  coiled-coil domain-containing protein 171 isoform X6

  14. XM_054362279.1 → XP_054218254.1  coiled-coil domain-containing protein 171 isoform X5

  15. XM_054362293.1 → XP_054218268.1  coiled-coil domain-containing protein 171 isoform X13

  16. XM_054362290.1 → XP_054218265.1  coiled-coil domain-containing protein 171 isoform X11

  17. XM_054362287.1 → XP_054218262.1  coiled-coil domain-containing protein 171 isoform X8

  18. XM_054362278.1 → XP_054218253.1  coiled-coil domain-containing protein 171 isoform X4

  19. XM_054362289.1 → XP_054218264.1  coiled-coil domain-containing protein 171 isoform X10

  20. XM_054362294.1 → XP_054218269.1  coiled-coil domain-containing protein 171 isoform X14

  21. XM_054362295.1 → XP_054218270.1  coiled-coil domain-containing protein 171 isoform X15

  22. XM_054362273.1 → XP_054218248.1  coiled-coil domain-containing protein 171 isoform X1

  23. XM_054362282.1 → XP_054218257.1  coiled-coil domain-containing protein 171 isoform X5

  24. XM_054362291.1 → XP_054218266.1  coiled-coil domain-containing protein 171 isoform X11

  25. XM_054362297.1 → XP_054218272.1  coiled-coil domain-containing protein 171 isoform X17

  26. XM_054362292.1 → XP_054218267.1  coiled-coil domain-containing protein 171 isoform X12

  27. XM_054362296.1 → XP_054218271.1  coiled-coil domain-containing protein 171 isoform X16

RNA

  1. XR_008487963.1 RNA Sequence

  2. XR_008487962.1 RNA Sequence

  3. XR_008487964.1 RNA Sequence

  4. XR_008487966.1 RNA Sequence

  5. XR_008487965.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6TFL3.1 GenPept UniProtKB/Swiss-Prot:Q6TFL3

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