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

Gene ID: 388389, updated on 17-Sep-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
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Genomic context

See CCDC103 in Genome Data Viewer
Location:
17q21.31
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44899729..44905390)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45753613..45759276)
RS_2024_09 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 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)

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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_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_2024_08

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)