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Protein

Coiled-coil domain-containing protein 28A

Gene

CCDC28A

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

Functioni

Caution

It is uncertain whether Met-1 or Met-91 is the initiator. The first 90 residues are not conserved and orthologous sequences, including rat and mouse ones, contain a stop codon upstream of the conserved methionine.Curated

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 28A
Alternative name(s):
CCRL1AP
Gene namesi
Name:CCDC28A
Synonyms:C6orf80
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000024862.16
HGNCiHGNC:21098 CCDC28A
MIMi615353 gene
neXtProtiNX_Q8IWP9

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving CCDC28A has been identified in acute leukemias. Translocation t(6;11)(q24.1;p15.5) with NUP98. The chimeric transcript is an in-frame fusion of NUP98 exon 13 to CCDC28A exon 2. Ectopic expression of NUP98-CCDC28A in mouse promotes the proliferative capacity and self-renewal potential of hematopoietic progenitors and rapidly induced fatal myeloproliferative neoplasms and defects in the differentiation of the erythro-megakaryocytic lineage.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei76 – 77Breakpoint for translocation to form NUP98-CCDC28A2

Organism-specific databases

DisGeNETi25901
OpenTargetsiENSG00000024862
PharmGKBiPA134939277

Polymorphism and mutation databases

BioMutaiCCDC28A
DMDMi68052352

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894111 – 274Coiled-coil domain-containing protein 28AAdd BLAST274

Proteomic databases

EPDiQ8IWP9
MaxQBiQ8IWP9
PaxDbiQ8IWP9
PeptideAtlasiQ8IWP9
PRIDEiQ8IWP9
ProteomicsDBi70876
TopDownProteomicsiQ8IWP9

PTM databases

iPTMnetiQ8IWP9
PhosphoSitePlusiQ8IWP9

Expressioni

Gene expression databases

BgeeiENSG00000024862
CleanExiHS_CCDC28A
ExpressionAtlasiQ8IWP9 baseline and differential
GenevisibleiQ8IWP9 HS

Organism-specific databases

HPAiHPA055125

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117408, 19 interactors
IntActiQ8IWP9, 8 interactors
STRINGi9606.ENSP00000332716

Structurei

3D structure databases

ProteinModelPortaliQ8IWP9
SMRiQ8IWP9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili234 – 263Sequence analysisAdd BLAST30

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJUP Eukaryota
ENOG4111KYE LUCA
GeneTreeiENSGT00500000044870
HOGENOMiHOG000231321
HOVERGENiHBG061498
InParanoidiQ8IWP9
OMAiPWCNKEL
OrthoDBiEOG091G0PBD
PhylomeDBiQ8IWP9
TreeFamiTF323549

Family and domain databases

InterProiView protein in InterPro
IPR025271 DUF4061
PfamiView protein in Pfam
PF13270 DUF4061, 1 hit

Sequencei

Sequence statusi: Complete.

Q8IWP9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPRAEPRATL GEQEKAGLPL GAWRLYLLRH FRKQTELRRS GSRDVTGALL
60 70 80 90 100
VAAAVASEAV GSLRVAEGGP NTLLLQVLRS WPWCNKELKT MEERKVKRRS
110 120 130 140 150
PKSFSAHCTQ VVNAKKNAIP VSKSTGFSNP ASQSTSQRPK LKRVMKEKTK
160 170 180 190 200
PQGGEGKGAQ STPIQHSFLT DVSDVQEMER GLLSLLNDFH SGKLQAFGNE
210 220 230 240 250
CSIEQMEHVR GMQEKLARLN LELYGELEEL PEDKRKTASD SNLDRLLSDL
260 270
EELNSSIQKL HLADAQDVPN TSAS
Length:274
Mass (Da):30,367
Last modified:March 1, 2003 - v1
Checksum:iA2C6F97AE9854108
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05074442S → Y. Corresponds to variant dbSNP:rs34538642Ensembl.1
Natural variantiVAR_05074582P → L. Corresponds to variant dbSNP:rs2273510Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY167571 mRNA Translation: AAN87344.1
AL121834 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47910.1
CH471051 Genomic DNA Translation: EAW47911.1
BC013019 mRNA Translation: AAH13019.2
BC080566 mRNA Translation: AAH80566.1
BC108717 mRNA Translation: AAI08718.1
AL050197 mRNA Translation: CAB43315.1
CCDSiCCDS5192.1
PIRiT08802
RefSeqiNP_056254.1, NM_015439.2
UniGeneiHs.412019

Genome annotation databases

EnsembliENST00000332797; ENSP00000332716; ENSG00000024862
ENST00000611852; ENSP00000479060; ENSG00000024862
GeneIDi25901
KEGGihsa:25901
UCSCiuc003qie.3 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCC28A_HUMAN
AccessioniPrimary (citable) accession number: Q8IWP9
Secondary accession number(s): E1P591
, Q32NC7, Q66K67, Q96E23, Q9Y430
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 21, 2005
Last sequence update: March 1, 2003
Last modified: June 20, 2018
This is version 108 of the entry and version 1 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 6
    Human chromosome 6: 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

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