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Protein

Coiled-coil domain-containing protein 183

Gene

CCDC183

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

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 183
Gene namesi
Name:CCDC183
Synonyms:KIAA1984
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000213213.13.
HGNCiHGNC:28236. CCDC183.

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

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000213213.
PharmGKBiPA134944889.

Polymorphism and mutation databases

BioMutaiKIAA1984.
DMDMi296439313.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002934651 – 534Coiled-coil domain-containing protein 183Add BLAST534

Proteomic databases

EPDiQ5T5S1.
MaxQBiQ5T5S1.
PaxDbiQ5T5S1.
PeptideAtlasiQ5T5S1.
PRIDEiQ5T5S1.

PTM databases

iPTMnetiQ5T5S1.
PhosphoSitePlusiQ5T5S1.

Expressioni

Gene expression databases

BgeeiENSG00000213213.
ExpressionAtlasiQ5T5S1. baseline and differential.

Organism-specific databases

HPAiHPA043812.

Interactioni

Protein-protein interaction databases

BioGridi124391. 31 interactors.
STRINGi9606.ENSP00000338013.

Structurei

3D structure databases

ProteinModelPortaliQ5T5S1.
SMRiQ5T5S1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili10 – 54Sequence analysisAdd BLAST45
Coiled coili136 – 209Sequence analysisAdd BLAST74
Coiled coili323 – 396Sequence analysisAdd BLAST74

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi530 – 534Poly-Lys5

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410II7I. Eukaryota.
ENOG410YH5U. LUCA.
GeneTreeiENSGT00900000141046.
HOGENOMiHOG000050237.
HOVERGENiHBG058359.
InParanoidiQ5T5S1.
OMAiCSHLWDI.
OrthoDBiEOG091G0IUD.
PhylomeDBiQ5T5S1.
TreeFamiTF324955.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5T5S1-1) [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
MRRHSETDVE EQTQELKTIT QLQEQCRALQ IQGVKENMDQ NKATLALLRS
60 70 80 90 100
NIRRGAQDWA LAKKYDQWTI SKACGKNLPL RLAHCRSTME VVREKLRKYV
110 120 130 140 150
FDRVNMHNLL IHLVRRRGQK LESMQLELDS LRSQPDASKE ELRLLQIIRQ
160 170 180 190 200
LENNIEKTMI KIITSQNIHL LYLDLLDYLK TVLAGYPIEL DKLQNLVVNY
210 220 230 240 250
CSELSDMKIM SQDAMMITDE VKRNMRQREA SFIEERRARE NRLNQQKKLI
260 270 280 290 300
DKIHTKETSE KYRRGQMDLD FPSNLMSTET LKLRRKETST AEMEYQSGVT
310 320 330 340 350
AVVEKVKSAV RCSHVWDITS RFLAQRNTEE NLELQMEDCE EWRVQLKALV
360 370 380 390 400
KQLELEEAVL KFRQKPSSIS FKSVEKKMTD MLKEEEERLQ LAHSNMTKGQ
410 420 430 440 450
ELLLTIQMGI DNLYVRLMGI NLPATQREVV LSNTLDLNSK LAYCEGKLTY
460 470 480 490 500
LADRVQMVSR TEEGDTKVRD TLESSTLMEK YNTRISFENR EEDMIDTFQF
510 520 530
PDMDHSYVPS RAEIKRQAQR LIEGKLKAAK KKKK
Length:534
Mass (Da):62,689
Last modified:May 18, 2010 - v3
Checksum:iD38115A57A2E228D
GO
Isoform 2 (identifier: Q5T5S1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     427-515: REVVLSNTLD...SYVPSRAEIK → VPGVRLSCHTPGPWAGPEG

Note: No experimental confirmation available.Curated
Show »
Length:464
Mass (Da):54,204
Checksum:i20C5106AE55240DA
GO
Isoform 3 (identifier: Q5T5S1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-88: Missing.
     283-534: Missing.

Show »
Length:194
Mass (Da):23,210
Checksum:i2DCB391A47A9C853
GO
Isoform 4 (identifier: Q5T5S1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: Missing.
     43-90: ATLALLRSNI...RLAHCRSTME → MLRSRRGTEQ...HEWAVPFPTQ
     370-424: SFKSVEKKMT...VRLMGINLPA → RCPGLPGLRA...HLHTPELLSP
     425-534: Missing.

Note: No experimental confirmation available.
Show »
Length:383
Mass (Da):44,321
Checksum:iBB2411FDF2E327BC
GO

Sequence cautioni

Isoform 2 : The sequence AAH64582 differs from that shown. Reason: Frameshift at position 222.Curated
Isoform 2 : The sequence AAH64582 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB85570 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAI12681 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03304638M → T. Corresponds to variant dbSNP:rs945386Ensembl.1
Natural variantiVAR_033047113L → R. Corresponds to variant dbSNP:rs4546744Ensembl.1
Natural variantiVAR_033048129D → A. Corresponds to variant dbSNP:rs7859194Ensembl.1
Natural variantiVAR_033049342W → R3 PublicationsCorresponds to variant dbSNP:rs2811795Ensembl.1
Natural variantiVAR_063112421N → T2 PublicationsCorresponds to variant dbSNP:rs2254143Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0264771 – 88Missing in isoform 3. 1 PublicationAdd BLAST88
Alternative sequenceiVSP_0264781 – 42Missing in isoform 4. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_02647943 – 90ATLAL…RSTME → MLRSRRGTEQVPSPRFPVGL PRASTRPPAGGLHGGPLRNH EWAVPFPTQ in isoform 4. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_026481283 – 534Missing in isoform 3. 1 PublicationAdd BLAST252
Alternative sequenceiVSP_026483370 – 424SFKSV…INLPA → RCPGLPGLRATHPSLTKAPG CSQAGSWEYTHCQQACVSHR GARGLHLHTPELLSP in isoform 4. 1 PublicationAdd BLAST55
Alternative sequenceiVSP_026484425 – 534Missing in isoform 4. 1 PublicationAdd BLAST110
Alternative sequenceiVSP_026482427 – 515REVVL…RAEIK → VPGVRLSCHTPGPWAGPEG in isoform 2. 1 PublicationAdd BLAST89

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB075864 mRNA. Translation: BAB85570.1. Different initiation.
AK092639 mRNA. Translation: BAC03931.1.
AL355987 Genomic DNA. Translation: CAI12681.1. Sequence problems.
BC064582 mRNA. Translation: AAH64582.1. Sequence problems.
BC137317 mRNA. Translation: AAI37318.1.
BC137318 mRNA. Translation: AAI37319.1.
CCDSiCCDS43906.1. [Q5T5S1-1]
RefSeqiNP_001034463.4. NM_001039374.4. [Q5T5S1-1]
UniGeneiHs.728796.

Genome annotation databases

EnsembliENST00000338005; ENSP00000338013; ENSG00000213213. [Q5T5S1-1]
GeneIDi84960.
KEGGihsa:84960.
UCSCiuc004cjf.4. human. [Q5T5S1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCC183_HUMAN
AccessioniPrimary (citable) accession number: Q5T5S1
Secondary accession number(s): B2RP89
, C9JD38, Q6P2D9, Q8NAI4, Q8TF18
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: May 18, 2010
Last modified: October 25, 2017
This is version 88 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

Documents

  1. Human chromosome 9
    Human chromosome 9: 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