CCDC174

Protein identityUniProt · HPA

UniProt accession

Q6PII3

Gene

CCDC174

Ensembl

ENSG00000154781

Chromosome

3

Canonical length

467 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

467 residues, UniProt reviewed canonical sequence.

>Q6PII3|CCDC174
     1  MDRRKKPLDV TASSLVDLKA ELFRKQEEFK QEKLLKDSGV FGKPKTTNKK PSIWSKQNVG
    61  VSNRAEKDAE QKIEEQKTLD KAREKLEEKA KLYEKMTKGD FIDEEVEDMY LVDFTQKIID
   121  KRKEMEASGA HRDSQKAGER DDDEENLPEG EIPPPQDPSE EWVDYVDSLG RSRRCMRKDL
   181  PDLLEMDKNL QGRLFISPAN EKTLLSEDMR KELQRQQWEE EEREALKRPM GPVHYEDIRE
   241  NEARQLGVGY FAFARDKELR NKQMKTLEML REQTTDQRTK RENIKEKRKA ILEARLAKLR
   301  QKKMKKSKEG GTEEENRDGD VIGPLPPEPE AVPTPRPAAQ SSKVEVIVQE RKDTKPGVPH
   361  IREWDRGKEF SFGYWSKRQS DLRAERDPEF APPSDYFVGQ KRTGFSSSQA WSRPGPAQSD
   421  PGQCPDQSHG PSPEHTSPTP APDNPPQAPT VTFKTLDDMI SYYKQVT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCDC174 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.56

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCDC174.

Disease | AllUniProt

Conditions CCDC174 is implicated in, by any mechanism.

• Hypotonia, infantile, with psychomotor retardation (IHPMR) MIM:616816

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 133 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.86

gnomAD pLI

0

gnomAD missense Z

0.04

DepMap mean gene effect

-0.76

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Coiled-coil domain-containing protein 174-like
• CCDC174, alpha/beta GRSR domain
• Domain of unknown function (DUF4078)
• CCDC174 alpha/beta GRSR domain

KeywordsUniProt

• Coiled coil
• Nucleus
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of CCDC174 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• EIF4A3