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    CCDC103 coiled-coil domain containing 103 [ Homo sapiens (human) ]

    Gene ID: 388389, updated on 7-Apr-2024

    Summary

    Official Symbol
    CCDC103provided by HGNC
    Official Full Name
    coiled-coil domain containing 103provided by HGNC
    Primary source
    HGNC:HGNC:32700
    See related
    Ensembl:ENSG00000167131 MIM:614677; AllianceGenome:HGNC:32700
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SMH; PR46b; CILD17
    Summary
    Enables protein homodimerization activity. Involved in axonemal dynein complex assembly; cilium movement; and determination of left/right symmetry. Predicted to be located in axoneme. Predicted to be part of outer dynein arm. Implicated in primary ciliary dyskinesia 17. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 12.6), brain (RPKM 2.7) and 7 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CCDC103 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44899729..44905390)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45753613..45759276)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42977097..42982758)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene HIG1 hypoxia inducible domain family member 1B Neighboring gene elongation factor Tu GTP binding domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:42943931-42944112 Neighboring gene RNA, 7SL, cytoplasmic 405, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:42969539-42970081 Neighboring gene family with sequence similarity 187 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8603 Neighboring gene glial fibrillary acidic protein Neighboring gene uncharacterized LOC105371793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42997401-42997900 Neighboring gene kinesin family member 18B Neighboring gene microRNA 6783

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13094, FLJ34211

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    part_of outer dynein arm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 103

    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_032792.1 RefSeqGene

      Range
      5018..10679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001258395.2NP_001245324.1  coiled-coil domain-containing protein 103 isoform 1

      See identical proteins and their annotated locations for NP_001245324.1

      Status: REVIEWED

      Source sequence(s)
      AC015936, BQ448043, DA185416
      Consensus CDS
      CCDS11490.1
      UniProtKB/Swiss-Prot
      A8K145, B8ZZU0, Q8IW40
      UniProtKB/TrEMBL
      F8W6J8
      Related
      ENSP00000387252.1, ENST00000410006.6
      Conserved Domains (2) summary
      pfam13877
      Location:98186
      RPAP3_C; Potential Monad-binding region of RPAP3
      pfam15867
      Location:774
      Dynein_attach_N; Dynein attachment factor N-terminus
    2. NM_001258396.2NP_001245325.1  coiled-coil domain-containing protein 103 isoform 1

      See identical proteins and their annotated locations for NP_001245325.1

      Status: REVIEWED

      Source sequence(s)
      AC015936, BQ448043, DB085134
      Consensus CDS
      CCDS11490.1
      UniProtKB/Swiss-Prot
      A8K145, B8ZZU0, Q8IW40
      UniProtKB/TrEMBL
      F8W6J8
      Related
      ENSP00000350420.2, ENST00000357776.6
      Conserved Domains (2) summary
      pfam13877
      Location:98186
      RPAP3_C; Potential Monad-binding region of RPAP3
      pfam15867
      Location:774
      Dynein_attach_N; Dynein attachment factor N-terminus
    3. NM_001258397.3NP_001245326.1  coiled-coil domain-containing protein 103 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC015936
      Consensus CDS
      CCDS58554.1
      UniProtKB/Swiss-Prot
      Q8IW40
      Related
      ENSP00000386640.1, ENST00000410027.5
      Conserved Domains (1) summary
      pfam15867
      Location:774
      Dynein_attach_N; Dynein attachment factor N-terminus
    4. NM_001258398.3NP_001245327.1  coiled-coil domain-containing protein 103 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC015936
      Conserved Domains (1) summary
      pfam15867
      Location:774
      Dynein_attach_N; Dynein attachment factor N-terminus
    5. NM_001258399.2NP_001245328.1  coiled-coil domain-containing protein 103 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC015936, BQ448043, DB024698
      Conserved Domains (1) summary
      pfam15867
      Location:774
      Dynein_attach_N; Dynein attachment factor N-terminus
    6. NM_213607.3NP_998772.1  coiled-coil domain-containing protein 103 isoform 1

      See identical proteins and their annotated locations for NP_998772.1

      Status: REVIEWED

      Source sequence(s)
      AC015936, AK023156, AK289760, BQ448043, DA185416
      Consensus CDS
      CCDS11490.1
      UniProtKB/Swiss-Prot
      A8K145, B8ZZU0, Q8IW40
      UniProtKB/TrEMBL
      F8W6J8
      Related
      ENSP00000391692.2, ENST00000417826.3
      Conserved Domains (2) summary
      pfam13877
      Location:98186
      RPAP3_C; Potential Monad-binding region of RPAP3
      pfam15867
      Location:774
      Dynein_attach_N; Dynein attachment factor N-terminus

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      44899729..44905390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      45753613..45759276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)