UniProtKB - Q8IWD4 (CC117_HUMAN)
Protein
Coiled-coil domain-containing protein 117
Gene
CCDC117
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: Coiled-coil domain-containing protein 117 |
Gene namesi | Name:CCDC117 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26599, CCDC117 |
neXtProti | NX_Q8IWD4 |
VEuPathDBi | HostDB:ENSG00000159873.9 |
Pathology & Biotechi
Organism-specific databases
OpenTargetsi | ENSG00000159873 |
PharmGKBi | PA145149315 |
Miscellaneous databases
Pharosi | Q8IWD4, Tdark |
Genetic variation databases
BioMutai | CCDC117 |
DMDMi | 74759628 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000254138 | 1 – 279 | Coiled-coil domain-containing protein 117Add BLAST | 279 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 48 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 53 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | Q8IWD4 |
jPOSTi | Q8IWD4 |
MassIVEi | Q8IWD4 |
MaxQBi | Q8IWD4 |
PaxDbi | Q8IWD4 |
PeptideAtlasi | Q8IWD4 |
PRIDEi | Q8IWD4 |
ProteomicsDBi | 6467 6927 70845 [Q8IWD4-1] 70846 [Q8IWD4-2] |
PTM databases
iPTMneti | Q8IWD4 |
PhosphoSitePlusi | Q8IWD4 |
Expressioni
Gene expression databases
Bgeei | ENSG00000159873, Expressed in female gonad and 218 other tissues |
ExpressionAtlasi | Q8IWD4, baseline and differential |
Genevisiblei | Q8IWD4, HS |
Organism-specific databases
HPAi | ENSG00000159873, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 127277, 14 interactors |
IntActi | Q8IWD4, 12 interactors |
STRINGi | 9606.ENSP00000249064 |
Miscellaneous databases
RNActi | Q8IWD4, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 141 – 168 | Sequence analysisAdd BLAST | 28 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502S42Q, Eukaryota |
GeneTreei | ENSGT00390000005772 |
HOGENOMi | CLU_083045_0_0_1 |
InParanoidi | Q8IWD4 |
OMAi | CLRKHRR |
PhylomeDBi | Q8IWD4 |
TreeFami | TF335674 |
Family and domain databases
InterProi | View protein in InterPro IPR031630, CCDC117 |
PANTHERi | PTHR36128, PTHR36128, 1 hit |
Pfami | View protein in Pfam PF15810, CCDC117, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8IWD4-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAALGRPFSG LPLSGGSDFL QPPQPAFPGR AFPPGADGAE LAPRPGPRAV
60 70 80 90 100
PSSPAGSAAR GRVSVHCKKK HKREEEEDDD CPVRKKRITE AELCAGPNDW
110 120 130 140 150
ILCAHQDVEG HGVNPSVSGL SIPGILDVIC EEMDQTTGEP QCEVARRKLQ
160 170 180 190 200
EIEDRIIDED EEVEADRNVN HLPSLVLSDT MKTGLKREFD EVFTKKMIES
210 220 230 240 250
MSRPSMELVL WKPLPELLSD KPKPSSNTKN YTGESQAKHV AAGTAFPQRT
260 270
ELFSEPRPTG MSLYNSLETA TSTEEEMEL
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB0QYH3 | B0QYH3_HUMAN | Coiled-coil domain-containing prote... | CCDC117 | 70 | Annotation score: | ||
B0QYH1 | B0QYH1_HUMAN | Coiled-coil domain-containing prote... | CCDC117 | 113 | Annotation score: | ||
F8WBN8 | F8WBN8_HUMAN | Coiled-coil domain-containing prote... | CCDC117 | 62 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 102 | L → P in BAC03592 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_028823 | 147 | R → S. Corresponds to variant dbSNP:rs13057011Ensembl. | 1 | |
Natural variantiVAR_028824 | 272 | S → N. Corresponds to variant dbSNP:rs9613680Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_021185 | 12 – 120 | Missing in isoform 2. 1 PublicationAdd BLAST | 109 | |
Alternative sequenceiVSP_054912 | 63 – 80 | Missing in isoform 3. 1 PublicationAdd BLAST | 18 | |
Alternative sequenceiVSP_054913 | 80 – 155 | DCPVR…EIEDR → E in isoform 4. 1 PublicationAdd BLAST | 76 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | CR456461 mRNA Translation: CAG30347.1 AK091133 mRNA Translation: BAC03592.1 AK289516 mRNA Translation: BAF82205.1 AK295140 mRNA Translation: BAH11987.1 AK302925 mRNA Translation: BAH13846.1 AL023494 Genomic DNA No translation available. Z93930 Genomic DNA No translation available. CH471095 Genomic DNA Translation: EAW59761.1 BC040488 mRNA Translation: AAH40488.1 BC053874 mRNA Translation: AAH53874.1 BC065549 mRNA Translation: AAH65549.1 |
CCDSi | CCDS13846.1 [Q8IWD4-1] CCDS63435.1 [Q8IWD4-4] CCDS63436.1 [Q8IWD4-3] |
RefSeqi | NP_001271192.1, NM_001284263.1 [Q8IWD4-3] NP_001271193.1, NM_001284264.1 [Q8IWD4-4] NP_001271194.1, NM_001284265.1 NP_775781.1, NM_173510.3 [Q8IWD4-1] |
Genome annotation databases
Ensembli | ENST00000249064; ENSP00000249064; ENSG00000159873 [Q8IWD4-1] ENST00000421503; ENSP00000387827; ENSG00000159873 [Q8IWD4-4] ENST00000448492; ENSP00000389478; ENSG00000159873 [Q8IWD4-3] |
GeneIDi | 150275 |
KEGGi | hsa:150275 |
UCSCi | uc003aeb.5, human [Q8IWD4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | CR456461 mRNA Translation: CAG30347.1 AK091133 mRNA Translation: BAC03592.1 AK289516 mRNA Translation: BAF82205.1 AK295140 mRNA Translation: BAH11987.1 AK302925 mRNA Translation: BAH13846.1 AL023494 Genomic DNA No translation available. Z93930 Genomic DNA No translation available. CH471095 Genomic DNA Translation: EAW59761.1 BC040488 mRNA Translation: AAH40488.1 BC053874 mRNA Translation: AAH53874.1 BC065549 mRNA Translation: AAH65549.1 |
CCDSi | CCDS13846.1 [Q8IWD4-1] CCDS63435.1 [Q8IWD4-4] CCDS63436.1 [Q8IWD4-3] |
RefSeqi | NP_001271192.1, NM_001284263.1 [Q8IWD4-3] NP_001271193.1, NM_001284264.1 [Q8IWD4-4] NP_001271194.1, NM_001284265.1 NP_775781.1, NM_173510.3 [Q8IWD4-1] |
3D structure databases
SMRi | Q8IWD4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127277, 14 interactors |
IntActi | Q8IWD4, 12 interactors |
STRINGi | 9606.ENSP00000249064 |
PTM databases
iPTMneti | Q8IWD4 |
PhosphoSitePlusi | Q8IWD4 |
Genetic variation databases
BioMutai | CCDC117 |
DMDMi | 74759628 |
Proteomic databases
EPDi | Q8IWD4 |
jPOSTi | Q8IWD4 |
MassIVEi | Q8IWD4 |
MaxQBi | Q8IWD4 |
PaxDbi | Q8IWD4 |
PeptideAtlasi | Q8IWD4 |
PRIDEi | Q8IWD4 |
ProteomicsDBi | 6467 6927 70845 [Q8IWD4-1] 70846 [Q8IWD4-2] |
Protocols and materials databases
Antibodypediai | 226, 118 antibodies |
DNASUi | 150275 |
Genome annotation databases
Ensembli | ENST00000249064; ENSP00000249064; ENSG00000159873 [Q8IWD4-1] ENST00000421503; ENSP00000387827; ENSG00000159873 [Q8IWD4-4] ENST00000448492; ENSP00000389478; ENSG00000159873 [Q8IWD4-3] |
GeneIDi | 150275 |
KEGGi | hsa:150275 |
UCSCi | uc003aeb.5, human [Q8IWD4-1] |
Organism-specific databases
CTDi | 150275 |
GeneCardsi | CCDC117 |
HGNCi | HGNC:26599, CCDC117 |
HPAi | ENSG00000159873, Low tissue specificity |
neXtProti | NX_Q8IWD4 |
OpenTargetsi | ENSG00000159873 |
PharmGKBi | PA145149315 |
VEuPathDBi | HostDB:ENSG00000159873.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S42Q, Eukaryota |
GeneTreei | ENSGT00390000005772 |
HOGENOMi | CLU_083045_0_0_1 |
InParanoidi | Q8IWD4 |
OMAi | CLRKHRR |
PhylomeDBi | Q8IWD4 |
TreeFami | TF335674 |
Enzyme and pathway databases
PathwayCommonsi | Q8IWD4 |
Miscellaneous databases
BioGRID-ORCSi | 150275, 19 hits in 1000 CRISPR screens |
ChiTaRSi | CCDC117, human |
GenomeRNAii | 150275 |
Pharosi | Q8IWD4, Tdark |
PROi | PR:Q8IWD4 |
RNActi | Q8IWD4, protein |
Gene expression databases
Bgeei | ENSG00000159873, Expressed in female gonad and 218 other tissues |
ExpressionAtlasi | Q8IWD4, baseline and differential |
Genevisiblei | Q8IWD4, HS |
Family and domain databases
InterProi | View protein in InterPro IPR031630, CCDC117 |
PANTHERi | PTHR36128, PTHR36128, 1 hit |
Pfami | View protein in Pfam PF15810, CCDC117, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CC117_HUMAN | |
Accessioni | Q8IWD4Primary (citable) accession number: Q8IWD4 Secondary accession number(s): A8K0F1 Q8N278 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | March 1, 2003 | |
Last modified: | April 7, 2021 | |
This is version 132 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports