2. Gene
  3. CCDC103 - coiled-coil domain containing 103 Gene

CCDC103 - coiled-coil domain containing 103 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SMH; PR46b; CILD17

Gene ID: 388389 | Gene type: protein coding

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