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

Gene ID: 203238, updated on 23-Nov-2021

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
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
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Genomic context

See CCDC171 in Genome Data Viewer
Location:
9p22.3
Exon count:
44
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (15552874..16062431)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (15553041..15974037)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 246, pseudogene 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 chromosome 9 open reading frame 92 Neighboring gene basonuclin 2 Neighboring gene VISTA enhancer hs307

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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)

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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_052634.1 RefSeqGene

    Range
    5170..426164
    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
    Q6TFL3
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    15552874..16062431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251397.2XP_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
  2. XM_017014437.2XP_016869926.1  coiled-coil domain-containing protein 171 isoform X9

  3. XM_017014432.2XP_016869921.1  coiled-coil domain-containing protein 171 isoform X3

  4. XM_005251398.4XP_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
  5. XM_017014435.2XP_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
  6. XM_017014434.2XP_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
  7. XM_017014431.2XP_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
  8. XM_017014436.2XP_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
  9. XM_017014433.2XP_016869922.1  coiled-coil domain-containing protein 171 isoform X4

  10. XM_017014438.2XP_016869927.1  coiled-coil domain-containing protein 171 isoform X10

  11. XM_017014441.2XP_016869930.1  coiled-coil domain-containing protein 171 isoform X12

  12. XM_017014442.2XP_016869931.1  coiled-coil domain-containing protein 171 isoform X13

  13. XM_011517791.3XP_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
  14. XM_005251399.4XP_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
  15. XM_011517788.2XP_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
  16. XM_017014443.1XP_016869932.1  coiled-coil domain-containing protein 171 isoform X14

  17. XM_011517796.3XP_011516098.1  coiled-coil domain-containing protein 171 isoform X15

    Conserved Domains (1) summary
    TIGR02168
    Location:2639
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  18. XM_017014440.1XP_016869929.1  coiled-coil domain-containing protein 171 isoform X11

    Conserved Domains (1) summary
    cl25732
    Location:39703
    SMC_N; RecF/RecN/SMC N terminal domain

RNA

  1. XR_001746227.2 RNA Sequence

  2. XR_001746228.2 RNA Sequence

  3. XR_001746229.2 RNA Sequence

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