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

    Gene ID: 203238, updated on 17-Sep-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ39267, FLJ46740, MGC50805, DKFZp686P12113

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001348002.2NP_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:39703
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_001355547.1NP_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:60796
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_173550.4NP_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:60788
      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_047422930.1XP_047278886.1  coiled-coil domain-containing protein 171 isoform X1

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

    3. XM_005251397.3XP_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:60796
      SMC_N; RecF/RecN/SMC N terminal domain
    4. XM_047422933.1XP_047278889.1  coiled-coil domain-containing protein 171 isoform X6

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

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

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

    8. XM_005251399.5XP_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:60796
      SMC_N; RecF/RecN/SMC N terminal domain
    9. XM_047422934.1XP_047278890.1  coiled-coil domain-containing protein 171 isoform X5

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

      Conserved Domains (2) summary
      COG1196
      Location:4551170
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:60796
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    11. XM_005251398.5XP_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:60796
      SMC_N; RecF/RecN/SMC N terminal domain
    12. XM_017014435.3XP_016869924.1  coiled-coil domain-containing protein 171 isoform X7

      Conserved Domains (2) summary
      COG1196
      Location:4551170
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:60796
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    13. XM_017014434.3XP_016869923.1  coiled-coil domain-containing protein 171 isoform X6

      Conserved Domains (2) summary
      COG1196
      Location:4551202
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:60796
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    14. XM_011517791.4XP_011516093.1  coiled-coil domain-containing protein 171 isoform X5

      Conserved Domains (2) summary
      COG1196
      Location:4111126
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:56752
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    15. XM_047422938.1XP_047278894.1  coiled-coil domain-containing protein 171 isoform X13

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

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

      Conserved Domains (2) summary
      COG1196
      Location:4551170
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:60796
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    18. XM_017014433.3XP_016869922.1  coiled-coil domain-containing protein 171 isoform X4

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

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

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

    22. XM_011517788.3XP_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:60796
      SMC_N; RecF/RecN/SMC N terminal domain
    23. XM_047422932.1XP_047278888.1  coiled-coil domain-containing protein 171 isoform X5

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

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

      Conserved Domains (1) summary
      TIGR02168
      Location:2639
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    26. XM_017014440.2XP_016869929.1  coiled-coil domain-containing protein 171 isoform X12

      Conserved Domains (1) summary
      cl25732
      Location:39703
      SMC_N; RecF/RecN/SMC N terminal domain
    27. XM_017014443.2XP_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_054362274.1XP_054218249.1  coiled-coil domain-containing protein 171 isoform X1

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    27. XM_054362296.1XP_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