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

    Gene ID: 203238, updated on 10-Dec-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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    See CCDC171 in Genome Data Viewer
    Location:
    9p22.3
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (15552885..16108926)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (15564343..16121126)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    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)

    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_2024_08

    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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