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Protein

Coiled-coil domain-containing protein 34

Gene

CCDC34

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 34
Alternative name(s):
Renal carcinoma antigen NY-REN-41
Gene namesi
Name:CCDC34
Synonyms:RAMA3
ORF Names:L15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:25079. CCDC34.

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving CCDC34 is found in a patient with hamartoma of the retinal pigment epithelium and retina. Translocation t(11;18) (p13;p11.2).

Organism-specific databases

OpenTargetsiENSG00000109881.
PharmGKBiPA142672189.

Polymorphism and mutation databases

BioMutaiCCDC34.
DMDMi190358750.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003391111 – 373Coiled-coil domain-containing protein 34Add BLAST373

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei52PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96HJ3.
MaxQBiQ96HJ3.
PaxDbiQ96HJ3.
PeptideAtlasiQ96HJ3.
PRIDEiQ96HJ3.

PTM databases

iPTMnetiQ96HJ3.
PhosphoSitePlusiQ96HJ3.

Expressioni

Gene expression databases

BgeeiENSG00000109881.
CleanExiHS_CCDC34.
GenevisibleiQ96HJ3. HS.

Organism-specific databases

HPAiHPA037574.

Interactioni

Protein-protein interaction databases

BioGridi124792. 2 interactors.
STRINGi9606.ENSP00000330240.

Structurei

3D structure databases

ProteinModelPortaliQ96HJ3.
SMRiQ96HJ3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili152 – 286Sequence analysisAdd BLAST135

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi78 – 102Asp-richAdd BLAST25

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IX0G. Eukaryota.
ENOG4111SGQ. LUCA.
GeneTreeiENSGT00730000111271.
HOGENOMiHOG000111409.
HOVERGENiHBG067911.
InParanoidiQ96HJ3.
KOiK16753.
OMAiHKARNNL.
OrthoDBiEOG091G0N1R.
PhylomeDBiQ96HJ3.
TreeFamiTF333383.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96HJ3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWAAGRWGPT FPSSYAGFSA DCRPRSRPSS DSCSVPMTGA RGQGLEVVRS
60 70 80 90 100
PSPPLPLSCS NSTRSLLSPL GHQSFQFDED DGDGEDEEDV DDEEDVDEDA
110 120 130 140 150
HDSEAKVASL RGMELQGCAS TQVESENNQE EQKQVRLPES RLTPWEVWFI
160 170 180 190 200
GKEKEERDRL QLKALEELNQ QLEKRKEMEE REKRKIIAEE KHKEWVQKKN
210 220 230 240 250
EQKRKEREQK INKEMEEKAA KELEKEYLQE KAKEKYQEWL KKKNAEECER
260 270 280 290 300
KKKEKEKEKQ QQAEIQEKKE IAEKKFQEWL ENAKHKPRPA AKSYGYANGK
310 320 330 340 350
LTGFYSGNSY PEPAFYNPIP WKPIHMPPPK EAKDLSGRKS KRPVISQPHK
360 370
SSSLVIHKAR SNLCLGTLCR IQR
Length:373
Mass (Da):43,225
Last modified:June 10, 2008 - v2
Checksum:i050F7D3647C94167
GO
Isoform 2 (identifier: Q96HJ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     203-229: KRKEREQKINKEMEEKAAKELEKEYLQ → VRRGKWIHTLTSLLQNISSYYTSLPRF
     230-373: Missing.

Show »
Length:229
Mass (Da):26,256
Checksum:i4B8DB30BB6C66F6C
GO

Sequence cautioni

The sequence AAD42874 differs from that shown. Reason: Frameshift at positions 9 and 21.Curated
The sequence AAO13807 differs from that shown. Reason: Frameshift at positions 142 and 243.Curated
The sequence AAO13807 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti3A → P in AAD42874 (PubMed:10508479).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04386653P → S.Corresponds to variant rs11549824dbSNPEnsembl.1
Natural variantiVAR_050750192H → N.Corresponds to variant rs12364852dbSNPEnsembl.1
Natural variantiVAR_043867264E → A.1 PublicationCorresponds to variant rs17244028dbSNPEnsembl.1
Natural variantiVAR_043868319I → V.Corresponds to variant rs16925453dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_034096203 – 229KRKER…KEYLQ → VRRGKWIHTLTSLLQNISSY YTSLPRF in isoform 2. 3 PublicationsAdd BLAST27
Alternative sequenceiVSP_034097230 – 373Missing in isoform 2. 3 PublicationsAdd BLAST144

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY598334 mRNA. Translation: AAT06745.1.
AK313358 mRNA. Translation: BAG36159.1.
AC090597 Genomic DNA. No translation available.
BC008496 mRNA. Translation: AAH08496.1.
AF155108 mRNA. Translation: AAD42874.1. Frameshift.
AF382034 mRNA. Translation: AAO13807.1. Sequence problems.
AF301222 mRNA. Translation: AAG39935.1.
CCDSiCCDS31448.1. [Q96HJ3-1]
CCDS7863.1. [Q96HJ3-2]
RefSeqiNP_110398.1. NM_030771.1. [Q96HJ3-1]
NP_542385.1. NM_080654.2. [Q96HJ3-2]
UniGeneiHs.143733.

Genome annotation databases

EnsembliENST00000317945; ENSP00000321563; ENSG00000109881. [Q96HJ3-2]
ENST00000328697; ENSP00000330240; ENSG00000109881. [Q96HJ3-1]
GeneIDi91057.
KEGGihsa:91057.
UCSCiuc001mrh.2. human. [Q96HJ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY598334 mRNA. Translation: AAT06745.1.
AK313358 mRNA. Translation: BAG36159.1.
AC090597 Genomic DNA. No translation available.
BC008496 mRNA. Translation: AAH08496.1.
AF155108 mRNA. Translation: AAD42874.1. Frameshift.
AF382034 mRNA. Translation: AAO13807.1. Sequence problems.
AF301222 mRNA. Translation: AAG39935.1.
CCDSiCCDS31448.1. [Q96HJ3-1]
CCDS7863.1. [Q96HJ3-2]
RefSeqiNP_110398.1. NM_030771.1. [Q96HJ3-1]
NP_542385.1. NM_080654.2. [Q96HJ3-2]
UniGeneiHs.143733.

3D structure databases

ProteinModelPortaliQ96HJ3.
SMRiQ96HJ3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124792. 2 interactors.
STRINGi9606.ENSP00000330240.

PTM databases

iPTMnetiQ96HJ3.
PhosphoSitePlusiQ96HJ3.

Polymorphism and mutation databases

BioMutaiCCDC34.
DMDMi190358750.

Proteomic databases

EPDiQ96HJ3.
MaxQBiQ96HJ3.
PaxDbiQ96HJ3.
PeptideAtlasiQ96HJ3.
PRIDEiQ96HJ3.

Protocols and materials databases

DNASUi91057.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317945; ENSP00000321563; ENSG00000109881. [Q96HJ3-2]
ENST00000328697; ENSP00000330240; ENSG00000109881. [Q96HJ3-1]
GeneIDi91057.
KEGGihsa:91057.
UCSCiuc001mrh.2. human. [Q96HJ3-1]

Organism-specific databases

CTDi91057.
GeneCardsiCCDC34.
HGNCiHGNC:25079. CCDC34.
HPAiHPA037574.
MIMi612324. gene.
neXtProtiNX_Q96HJ3.
OpenTargetsiENSG00000109881.
PharmGKBiPA142672189.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IX0G. Eukaryota.
ENOG4111SGQ. LUCA.
GeneTreeiENSGT00730000111271.
HOGENOMiHOG000111409.
HOVERGENiHBG067911.
InParanoidiQ96HJ3.
KOiK16753.
OMAiHKARNNL.
OrthoDBiEOG091G0N1R.
PhylomeDBiQ96HJ3.
TreeFamiTF333383.

Miscellaneous databases

ChiTaRSiCCDC34. human.
GenomeRNAii91057.
PROiQ96HJ3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109881.
CleanExiHS_CCDC34.
GenevisibleiQ96HJ3. HS.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiCCD34_HUMAN
AccessioniPrimary (citable) accession number: Q96HJ3
Secondary accession number(s): B2R8G2
, Q8IX69, Q9H2A6, Q9Y599
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: November 2, 2016
This is version 95 of the entry and version 2 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

Miscellaneous

Antigen recognized by autologous antibody in patients with renal-cell carcinoma.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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.