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Protein

Coiled-coil domain-containing protein 174

Gene

CCDC174

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probably involved in neuronal development.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 174
Gene namesi
Name:CCDC174
Synonyms:C3orf19
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000154781.15
HGNCiHGNC:28033 CCDC174
MIMi616735 gene
neXtProtiNX_Q6PII3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hypotonia, infantile, with psychomotor retardation (IHPMR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental delay with brain ventriculomegaly, variable thinning of corpus callosum and cardiac septal defects.
See also OMIM:616816

Organism-specific databases

DisGeNETi51244
MalaCardsiCCDC174
MIMi616816 phenotype
OpenTargetsiENSG00000154781
PharmGKBiPA134914840

Polymorphism and mutation databases

BioMutaiCCDC174
DMDMi126302528

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002519561 – 467Coiled-coil domain-containing protein 174Add BLAST467

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei197PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6PII3
MaxQBiQ6PII3
PaxDbiQ6PII3
PeptideAtlasiQ6PII3
PRIDEiQ6PII3

PTM databases

iPTMnetiQ6PII3
PhosphoSitePlusiQ6PII3

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000154781
CleanExiHS_C3orf19
ExpressionAtlasiQ6PII3 baseline and differential
GenevisibleiQ6PII3 HS

Organism-specific databases

HPAiHPA043468
HPA060129

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
EIF4A3P389195EBI-747830,EBI-299104

Protein-protein interaction databases

BioGridi119402, 13 interactors
IntActiQ6PII3, 12 interactors
STRINGi9606.ENSP00000373304

Structurei

3D structure databases

ProteinModelPortaliQ6PII3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili63 – 99Sequence analysisAdd BLAST37
Coiled coili267 – 309Sequence analysisAdd BLAST43

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi219 – 224Poly-Glu6

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGB1 Eukaryota
ENOG410Y526 LUCA
GeneTreeiENSGT00440000033958
HOGENOMiHOG000111357
HOVERGENiHBG055105
InParanoidiQ6PII3
OMAiHYQDVFF
OrthoDBiEOG091G09Q5
PhylomeDBiQ6PII3
TreeFamiTF323679

Family and domain databases

InterProiView protein in InterPro
IPR025066 DUF4078
PfamiView protein in Pfam
PF13300 DUF4078, 1 hit

Sequencei

Sequence statusi: Complete.

Q6PII3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDRRKKPLDV TASSLVDLKA ELFRKQEEFK QEKLLKDSGV FGKPKTTNKK
60 70 80 90 100
PSIWSKQNVG VSNRAEKDAE QKIEEQKTLD KAREKLEEKA KLYEKMTKGD
110 120 130 140 150
FIDEEVEDMY LVDFTQKIID KRKEMEASGA HRDSQKAGER DDDEENLPEG
160 170 180 190 200
EIPPPQDPSE EWVDYVDSLG RSRRCMRKDL PDLLEMDKNL QGRLFISPAN
210 220 230 240 250
EKTLLSEDMR KELQRQQWEE EEREALKRPM GPVHYEDIRE NEARQLGVGY
260 270 280 290 300
FAFARDKELR NKQMKTLEML REQTTDQRTK RENIKEKRKA ILEARLAKLR
310 320 330 340 350
QKKMKKSKEG GTEEENRDGD VIGPLPPEPE AVPTPRPAAQ SSKVEVIVQE
360 370 380 390 400
RKDTKPGVPH IREWDRGKEF SFGYWSKRQS DLRAERDPEF APPSDYFVGQ
410 420 430 440 450
KRTGFSSSQA WSRPGPAQSD PGQCPDQSHG PSPEHTSPTP APDNPPQAPT
460
VTFKTLDDMI SYYKQVT
Length:467
Mass (Da):53,958
Last modified:February 20, 2007 - v3
Checksum:iB106979B7AC37028
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti158P → H in AAH33897 (PubMed:16641997).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061573436T → M. Corresponds to variant dbSNP:rs60239620Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC090952 Genomic DNA No translation available.
BC013999 mRNA Translation: AAH13999.2
BC033897 mRNA Translation: AAH33897.2
CCDSiCCDS2620.2
RefSeqiNP_057558.3, NM_016474.4
UniGeneiHs.517820

Genome annotation databases

EnsembliENST00000383794; ENSP00000373304; ENSG00000154781
GeneIDi51244
KEGGihsa:51244
UCSCiuc003byw.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCC174_HUMAN
AccessioniPrimary (citable) accession number: Q6PII3
Secondary accession number(s): Q96CS5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: February 20, 2007
Last modified: March 28, 2018
This is version 101 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health