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Protein

Coiled-coil domain-containing protein 112

Gene

CCDC112

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 112
Alternative name(s):
Mutated in bladder cancer protein 1
Gene namesi
Name:CCDC112
Synonyms:MBC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:28599. CCDC112.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145008783.

Polymorphism and mutation databases

BioMutaiCCDC112.
DMDMi172045813.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 446446Coiled-coil domain-containing protein 112PRO_0000320160Add
BLAST

Proteomic databases

EPDiQ8NEF3.
MaxQBiQ8NEF3.
PaxDbiQ8NEF3.
PRIDEiQ8NEF3.

PTM databases

iPTMnetiQ8NEF3.
PhosphoSiteiQ8NEF3.

Expressioni

Gene expression databases

BgeeiQ8NEF3.
CleanExiHS_CCDC112.
ExpressionAtlasiQ8NEF3. baseline and differential.
GenevisibleiQ8NEF3. HS.

Organism-specific databases

HPAiHPA045120.
HPA050621.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FSD2A1L4K13EBI-745040,EBI-5661036
KRT31Q153233EBI-745040,EBI-948001
KRT40Q6A1623EBI-745040,EBI-10171697
TNIP1Q150253EBI-745040,EBI-357849

Protein-protein interaction databases

BioGridi127513. 14 interactions.
IntActiQ8NEF3. 10 interactions.
MINTiMINT-1472301.
STRINGi9606.ENSP00000368931.

Structurei

3D structure databases

ProteinModelPortaliQ8NEF3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili35 – 11682Sequence analysisAdd
BLAST
Coiled coili219 – 400182Sequence analysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IIJY. Eukaryota.
ENOG410YSG9. LUCA.
GeneTreeiENSGT00730000111234.
HOGENOMiHOG000067876.
HOVERGENiHBG107595.
InParanoidiQ8NEF3.
OMAiKHKGKPT.
OrthoDBiEOG7T7GWT.
PhylomeDBiQ8NEF3.
TreeFamiTF329583.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8NEF3-1) [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
MEKDKHSHFY NQKSDFRIEH SMLEELENKL IHSRKTERAK IQQQLAKIHN
60 70 80 90 100
NVKKLQHQLK DVKPTPDFVE KLREMMEEIE NAINTFKEEQ RLIYEELIKE
110 120 130 140 150
EKTTNNELSA ISRKIDTWAL GNSETEKAFR AISSKVPVDK VTPSTLPEEV
160 170 180 190 200
LDFEKFLQQT GGRQGAWDDY DHQNFVKVRN KHKGKPTFME EVLEHLPGKT
210 220 230 240 250
QDEVQQHEKW YQKFLALEER KKESIQIWKT KKQQKREEIF KLKEKADNTP
260 270 280 290 300
VLFHNKQEDN QKQKEEQRKK QKLAVEAWKK QKSIEMSMKC ASQLKEEEEK
310 320 330 340 350
EKKHQKERQR QFKLKLLLES YTQQKKEQEE FLRLEKEIRE KAEKAEKRKN
360 370 380 390 400
AADEISRFQE RDLHKLELKI LDRQAKEDEK SQKQRRLAKL KEKVENNVSR
410 420 430 440
DPSRLYKPTK GWEERTKKIG PTGSGPLLHI PHRAIPTWRQ GIQRRV
Length:446
Mass (Da):53,565
Last modified:February 26, 2008 - v2
Checksum:iBECB403C2B958EB1
GO
Isoform 2 (identifier: Q8NEF3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAALTTVVVA...EKFKNQVINM

Note: No experimental confirmation available.
Show »
Length:529
Mass (Da):61,921
Checksum:iAD0F5E01F10C8703
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321H → L.
Corresponds to variant rs34457718 [ dbSNP | Ensembl ].
VAR_039147
Natural varianti144 – 1441S → N.
Corresponds to variant rs34056787 [ dbSNP | Ensembl ].
VAR_039148
Natural varianti341 – 3411K → N.1 Publication
Corresponds to variant rs17856922 [ dbSNP | Ensembl ].
VAR_039149
Natural varianti354 – 3541E → G.1 Publication
Corresponds to variant rs17852930 [ dbSNP | Ensembl ].
VAR_039150

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MAALTTVVVAAAATAVAGAV AGAGAATGTGVGATPAPQQS DGCFSTSGGIRPFHLQNWKQ KVNQTKKAEFVRTAEKFKNQ VINM in isoform 2. 1 PublicationVSP_031624

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ580807 mRNA. Translation: CAE45342.1.
CH471086 Genomic DNA. Translation: EAW48966.1.
BC031242 mRNA. Translation: AAH31242.1.
CCDSiCCDS34213.1. [Q8NEF3-2]
CCDS4117.1. [Q8NEF3-1]
RefSeqiNP_001035530.1. NM_001040440.2. [Q8NEF3-2]
NP_689762.2. NM_152549.2. [Q8NEF3-1]
UniGeneiHs.436121.

Genome annotation databases

EnsembliENST00000379611; ENSP00000368931; ENSG00000164221. [Q8NEF3-2]
ENST00000395557; ENSP00000378925; ENSG00000164221. [Q8NEF3-1]
ENST00000512261; ENSP00000423712; ENSG00000164221. [Q8NEF3-1]
GeneIDi153733.
KEGGihsa:153733.
UCSCiuc003kqy.3. human. [Q8NEF3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ580807 mRNA. Translation: CAE45342.1.
CH471086 Genomic DNA. Translation: EAW48966.1.
BC031242 mRNA. Translation: AAH31242.1.
CCDSiCCDS34213.1. [Q8NEF3-2]
CCDS4117.1. [Q8NEF3-1]
RefSeqiNP_001035530.1. NM_001040440.2. [Q8NEF3-2]
NP_689762.2. NM_152549.2. [Q8NEF3-1]
UniGeneiHs.436121.

3D structure databases

ProteinModelPortaliQ8NEF3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127513. 14 interactions.
IntActiQ8NEF3. 10 interactions.
MINTiMINT-1472301.
STRINGi9606.ENSP00000368931.

PTM databases

iPTMnetiQ8NEF3.
PhosphoSiteiQ8NEF3.

Polymorphism and mutation databases

BioMutaiCCDC112.
DMDMi172045813.

Proteomic databases

EPDiQ8NEF3.
MaxQBiQ8NEF3.
PaxDbiQ8NEF3.
PRIDEiQ8NEF3.

Protocols and materials databases

DNASUi153733.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379611; ENSP00000368931; ENSG00000164221. [Q8NEF3-2]
ENST00000395557; ENSP00000378925; ENSG00000164221. [Q8NEF3-1]
ENST00000512261; ENSP00000423712; ENSG00000164221. [Q8NEF3-1]
GeneIDi153733.
KEGGihsa:153733.
UCSCiuc003kqy.3. human. [Q8NEF3-1]

Organism-specific databases

CTDi153733.
GeneCardsiCCDC112.
HGNCiHGNC:28599. CCDC112.
HPAiHPA045120.
HPA050621.
neXtProtiNX_Q8NEF3.
PharmGKBiPA145008783.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIJY. Eukaryota.
ENOG410YSG9. LUCA.
GeneTreeiENSGT00730000111234.
HOGENOMiHOG000067876.
HOVERGENiHBG107595.
InParanoidiQ8NEF3.
OMAiKHKGKPT.
OrthoDBiEOG7T7GWT.
PhylomeDBiQ8NEF3.
TreeFamiTF329583.

Miscellaneous databases

ChiTaRSiCCDC112. human.
GenomeRNAii153733.
PROiQ8NEF3.

Gene expression databases

BgeeiQ8NEF3.
CleanExiHS_CCDC112.
ExpressionAtlasiQ8NEF3. baseline and differential.
GenevisibleiQ8NEF3. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and mutational analysis of genes from the chromosomal region 5q22."
    Mueller A., Zhang C., Kovacs G.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Kidney.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ASN-341 AND GLY-354.
    Tissue: Testis.

Entry informationi

Entry nameiCC112_HUMAN
AccessioniPrimary (citable) accession number: Q8NEF3
Secondary accession number(s): Q6A334
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: June 8, 2016
This is version 112 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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

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.