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Protein

Coiled-coil domain-containing protein 174

Gene

CCDC174

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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

HGNCiHGNC:28033. CCDC174.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

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.
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

Protein-protein interaction databases

BioGridi119402. 12 interactors.
IntActiQ6PII3. 12 interactors.
MINTiMINT-1460637.
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.
OMAiIWSKQNV.
OrthoDBiEOG091G09Q5.
PhylomeDBiQ6PII3.
TreeFamiTF323679.

Family and domain databases

InterProiIPR025066. DUF4078.
[Graphical view]
PfamiPF13300. DUF4078. 1 hit.
[Graphical view]

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 rs60239620dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ6PII3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119402. 12 interactors.
IntActiQ6PII3. 12 interactors.
MINTiMINT-1460637.
STRINGi9606.ENSP00000373304.

PTM databases

iPTMnetiQ6PII3.
PhosphoSitePlusiQ6PII3.

Polymorphism and mutation databases

BioMutaiCCDC174.
DMDMi126302528.

Proteomic databases

EPDiQ6PII3.
MaxQBiQ6PII3.
PaxDbiQ6PII3.
PeptideAtlasiQ6PII3.
PRIDEiQ6PII3.

Protocols and materials databases

DNASUi51244.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51244.
DisGeNETi51244.
GeneCardsiCCDC174.
HGNCiHGNC:28033. CCDC174.
HPAiHPA043468.
HPA060129.
MIMi616735. gene.
616816. phenotype.
neXtProtiNX_Q6PII3.
OpenTargetsiENSG00000154781.
PharmGKBiPA134914840.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGB1. Eukaryota.
ENOG410Y526. LUCA.
GeneTreeiENSGT00440000033958.
HOGENOMiHOG000111357.
HOVERGENiHBG055105.
InParanoidiQ6PII3.
OMAiIWSKQNV.
OrthoDBiEOG091G09Q5.
PhylomeDBiQ6PII3.
TreeFamiTF323679.

Miscellaneous databases

GenomeRNAii51244.
PROiQ6PII3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154781.
CleanExiHS_C3orf19.
ExpressionAtlasiQ6PII3. baseline and differential.
GenevisibleiQ6PII3. HS.

Family and domain databases

InterProiIPR025066. DUF4078.
[Graphical view]
PfamiPF13300. DUF4078. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCC174_HUMAN
AccessioniPrimary (citable) accession number: Q6PII3
Secondary accession number(s): Q96CS5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: February 20, 2007
Last modified: November 30, 2016
This is version 93 of the entry and version 3 of the sequence. [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

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.