CCDC103 - coiled-coil domain containing 103 Gene

Also Known as SMH; PR46b; CILD17

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 388389

About CCDC103

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,899,729-44,905,390 (from NCBI)

This gene has 5 transcripts (splice variants), 150 orthologues and is associated with 3 phenotypes. Biased expression in testis (RPKM 12.6), brain (RPKM 2.7) and 7 other tissues.

Summary

This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]

CCDC103 Products (6)

mRNA Protein Name
NM_001258395.2 NP_001245324.1 coiled-coil domain-containing protein 103 isoform 1
NM_001258396.2 NP_001245325.1 coiled-coil domain-containing protein 103 isoform 1
NM_001258397.3 NP_001245326.1 coiled-coil domain-containing protein 103 isoform 2
NM_001258398.3 NP_001245327.1 coiled-coil domain-containing protein 103 isoform 3
NM_001258399.2 NP_001245328.1 coiled-coil domain-containing protein 103 isoform 4
NM_213607.3 NP_998772.1 coiled-coil domain-containing protein 103 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
22581229 GOA
Biological Process GO Annotation Evidence References Source
involved in axonemal dynein complex assembly IMP
IMP: Inferred from mutant phenotype
22581229 GOA
involved in cilium movement IGI
IGI: Inferred from genetic interaction
22581229 GOA
involved in determination of digestive tract left/right asymmetry IMP
IMP: Inferred from mutant phenotype
22581229 GOA
involved in heart looping IMP
IMP: Inferred from mutant phenotype
22581229 GOA
involved in inner dynein arm assembly IGI
IGI: Inferred from genetic interaction
22581229 GOA
involved in outer dynein arm assembly IGI
IGI: Inferred from genetic interaction
22581229 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CCDC103 Protein Structure

RPAP3_C

RPAP3_C: Potential Monad-binding region of RPAP3 (97 - 189)

  • 0
  • 100
  • 200
  • 242 a.a.
Protein Preferred Names Protein Names

coiled-coil domain-containing protein 103

CCDC103 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CCDC103 Q8IW40 R3HCC1L Homo sapiens Q7Z5L2
Validated Y2H
25416956
Intra
CCDC103 Q8IW40 PLAAT1 Homo sapiens Q9HDD0
Y2H Array
32296183
Intra
CCDC103 Q8IW40 PLAAT1 Homo sapiens Q9HDD0
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 PLAAT1 Homo sapiens Q9HDD0
Validated Y2H
32296183
Intra
CCDC103 Q8IW40 MEOX2 Homo sapiens Q6FHY5
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 MEOX2 Homo sapiens Q6FHY5
Y2H Array
32296183
Intra
CCDC103 Q8IW40 CENPN Homo sapiens Q96H22-3
Validated Y2H
32296183
Intra
CCDC103 Q8IW40 CENPN Homo sapiens Q96H22-3
Y2H Array
32296183
Intra
CCDC103 Q8IW40 CENPN Homo sapiens Q96H22-3
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 VAC14 Homo sapiens Q08AM6
Y2H Array
32296183
Intra
CCDC103 Q8IW40 VAC14 Homo sapiens Q08AM6
Y2H Array
29892012
Intra
CCDC103 Q8IW40 VAC14 Homo sapiens Q08AM6
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 PRKAR1B Homo sapiens P31321
Y2H Array
32296183
Intra
CCDC103 Q8IW40 PRKAR1B Homo sapiens P31321
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 MEOX1 Homo sapiens P50221
Y2H Array
32296183
Intra
CCDC103 Q8IW40 MEOX1 Homo sapiens P50221
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 RUVBL2 Homo sapiens Q9Y230
Y2H Prey Pooling
25416956
Intra
CCDC103 Q8IW40 GRIPAP1 Homo sapiens Q4V328
Y2H Array
32296183
Intra
CCDC103 Q8IW40 GRIPAP1 Homo sapiens Q4V328
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 PNMA6A Homo sapiens P0CW24
Y2H Array
32296183
Intra
CCDC103 Q8IW40 PNMA6A Homo sapiens P0CW24
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 USHBP1 Homo sapiens Q8N6Y0
Validated Y2H
32296183
Intra
CCDC103 Q8IW40 HGS Homo sapiens O14964
Validated Y2H
25416956
Intra
CCDC103 Q8IW40 HGS Homo sapiens O14964
Y2H Prey Pooling
25416956
Intra
CCDC103 Q8IW40 HGS Homo sapiens O14964
Y2H Array
25416956
Intra
CCDC103 Q8IW40 RCN3 Homo sapiens Q96D15
Validated Y2H
32296183
Intra
CCDC103 Q8IW40 RCN3 Homo sapiens Q96D15
Y2H Array
32296183
Intra
CCDC103 Q8IW40 RCN3 Homo sapiens Q96D15
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 PAX6 Homo sapiens P26367
Y2H Array
32296183
Intra
CCDC103 Q8IW40 PAX6 Homo sapiens P26367
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 MEOX2 Homo sapiens P50222
Y2H Array
25416956
Intra
CCDC103 Q8IW40 PICK1 Homo sapiens Q9NRD5
Y2H Prey Pooling
32296183
Intra
CCDC103 Q8IW40 PICK1 Homo sapiens Q9NRD5
Validated Y2H
32296183
Intra
CCDC103 Q8IW40 PICK1 Homo sapiens Q9NRD5
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ciliary Dyskinesia, Primary, 17

  • CILD17

  • Primary Ciliary Dyskinesia 17

  • Primary Ciliary Dyskinesia 17 With Or Without Situs Inversus

  • Ciliary Dyskinesia, Primary, 17, With Or Without Situs Inversus

  • Ics17

  • Immotile Cilia Syndrome 17

  • Dyskinesia, Ciliary, Primary, 17
Dextrocardia With Situs Inversus

  • Situs Inversus Totalis

  • Complete Situs Inversus

  • Complete Situs Inversus Viscerum

  • Situs Inversus
Primary Ciliary Dyskinesia

  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary
Situs Inversus

  • Situs Inversus Viscerum

  • Laterality Sequence

  • Complete Transposition

  • Siv
Chromosome 17q12 Duplication Syndrome

  • 17q12 Microduplication Syndrome

  • Trisomy 17q12

  • 17q12 Duplication

  • 17q12 Microduplication

  • Dup(17)(Q12)

  • Recurrent Duplication Of 17q12

  • 17q12 Duplication Syndrome

  • 17q12 Recurrent Duplication
Kartagener Syndrome

  • Kartagener'S Syndrome
Stromme Syndrome

  • Jejunal Atresia With Microcephaly And Ocular Anomalies

  • Apple Peel Syndrome With Microcephaly And Ocular Anomalies

  • STROMS

  • Cild31

  • Lethal Fetal Brain Malformation-Duodenal Atresia-Bilateral Renal Hypoplasia Syndrome

  • Ciliary Dyskinesia, Primary, 31, Formerly

  • Cild31, Formerly

  • Primary Ciliary Dyskinesia 31

  • Apple-Peel Intestinal Atresia-Ocular Anomalies-Microcephaly Syndrome

  • Jejunal Atresia-Microcephaly-Ocular Anomalies Syndrome

  • Ciliary Dyskinesia, Primary, 31

  • Dyskinesia, Ciliary, Primary, Type 31
Ciliary Dyskinesia, Primary, 1

  • CILD1

  • Pcd

  • Primary Ciliary Dyskinesia 1

  • Kartagener Syndrome

  • Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus

  • Immotile Cilia Syndrome

  • Ics

  • Polynesian Bronchiectasis

  • Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus

  • Ics1

  • Immotile Cilia Syndrome 1

  • Primary Ciliary Dyskinesia

  • KTGS

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome Kartagener Type

  • Primary Ciliary Dyskinesia Kartagener Type

  • Siewert Syndrome

  • Immotile Cilia

  • Dyskinesia, Ciliary, Primary, Type 1

  • Ciliary Motility Disorders
Ciliary Dyskinesia, Primary, 4

  • Primary Ciliary Dyskinesia 4

  • CILD4

  • Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia, 4
Ciliary Dyskinesia, Primary, 8

  • Primary Ciliary Dyskinesia 8

  • CILD8

  • Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus
Visceral Heterotaxy

  • Situs Ambiguus

  • Heterotaxia

  • Heterotaxy Syndrome

  • Heterotaxy

  • Lateralization Defect

  • Situs Ambiguous

  • Left Isomerism

  • Htx

  • Ivemark Syndrome

  • Right Isomerism

  • Situs Ambiguus Viscerum

  • Incomplete Situs Inversus

  • Partial Situs Inversus

  • Heterotaxy, Visceral

  • Asplenia Syndrome

  • Bilateral Left-Sidedness

  • Polysplenia Syndrome

  • Moller Syndrome
Chronic Maxillary Sinusitis

  • Chronic Antritis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02024 CCDC103 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus CCDC103 VGNC VGNC:60446
Rattus norvegicus CCDC103 RGD RGD:1562370
Canis familiaris CCDC103 VGNC VGNC:51934
Bos taurus CCDC103 VGNC VGNC:55786
Mus musculus CCDC103 MGD MGI:1920543
Macaca mulatta CCDC103 VGNC VGNC:82118
Others CCDC103 NCBI