Format

Send to:

Choose Destination

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

Gene ID: 388389, updated on 17-Jun-2019

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 Ensembl:ENSG00000214447 MIM:614677
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
This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]
Expression
Biased expression in testis (RPKM 12.6), brain (RPKM 2.7) and 7 other tissues See more
Orthologs

Genomic context

See CCDC103 in Genome Data Viewer
Location:
17q21.31
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44899712..44905390)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42977080..42983541)

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 RNA, 7SL, cytoplasmic 405, pseudogene Neighboring gene family with sequence similarity 187 member A Neighboring gene glial fibrillary acidic protein Neighboring gene uncharacterized LOC105371793 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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13094, FLJ34211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
axonemal dynein complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium movement IGI
Inferred from Genetic Interaction
more info
PubMed 
determination of digestive tract left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
determination of left/right symmetry IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epithelial cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epithelial cilium movement involved in determination of left/right asymmetry IC
Inferred by Curator
more info
PubMed 
heart looping IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inner dynein arm assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
outer dynein arm assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
axoneme ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 
outer dynein arm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 103

NCBI Reference Sequences (RefSeq)

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
    5001..8968
    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

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AC015936, BQ448043, DA185416
    Consensus CDS
    CCDS11490.1
    UniProtKB/Swiss-Prot
    Q8IW40
    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

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AC015936, BQ448043, DB085134
    Consensus CDS
    CCDS11490.1
    UniProtKB/Swiss-Prot
    Q8IW40
    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_001258397.1NP_001245326.1  coiled-coil domain-containing protein 103 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC015936, BQ448043, DA185416, DA749894
    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_001258398.2NP_001245327.1  coiled-coil domain-containing protein 103 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR and in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC015936, BQ448043, DB451789
    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

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 4, which has a shorter and distinct C-terminus, compared to isoform 1.
    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

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 2 and 3 encode the same isoform (1)
    Source sequence(s)
    AC015936, AK023156, AK289760, BQ448043, DA185416
    Consensus CDS
    CCDS11490.1
    UniProtKB/Swiss-Prot
    Q8IW40
    Related
    ENSP00000391869.3, ENST00000412523.3
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    44899712..44905390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center