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Protein

Coiled-coil domain-containing protein 28A

Gene

CCDC28A

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 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

HGNCiHGNC:21098. CCDC28A.

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei76 – 772Breakpoint for translocation to form NUP98-CCDC28A

Organism-specific databases

PharmGKBiPA134939277.

Polymorphism and mutation databases

BioMutaiCCDC28A.
DMDMi68052352.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 274274Coiled-coil domain-containing protein 28APRO_0000089411Add
BLAST

Proteomic databases

MaxQBiQ8IWP9.
PaxDbiQ8IWP9.
PRIDEiQ8IWP9.
TopDownProteomicsiQ8IWP9.

PTM databases

iPTMnetiQ8IWP9.
PhosphoSiteiQ8IWP9.

Expressioni

Gene expression databases

BgeeiQ8IWP9.
CleanExiHS_CCDC28A.
ExpressionAtlasiQ8IWP9. baseline and differential.
GenevisibleiQ8IWP9. HS.

Organism-specific databases

HPAiHPA055125.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ICA1Q050843EBI-355471,EBI-1046751
KIFC3Q9BVG83EBI-355471,EBI-2125614
KRTAP9-2Q9BYQ43EBI-355471,EBI-1044640
MYOGP151733EBI-355471,EBI-3906629
TRIM54Q9BYV23EBI-355471,EBI-2130429

Protein-protein interaction databases

BioGridi117408. 8 interactions.
IntActiQ8IWP9. 8 interactions.
STRINGi9606.ENSP00000332716.

Structurei

3D structure databases

ProteinModelPortaliQ8IWP9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili234 – 26330Sequence analysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IJUP. Eukaryota.
ENOG4111KYE. LUCA.
GeneTreeiENSGT00500000044870.
HOGENOMiHOG000231321.
HOVERGENiHBG061498.
InParanoidiQ8IWP9.
OMAiPWCNKEL.
OrthoDBiEOG7ZPNMD.
PhylomeDBiQ8IWP9.
TreeFamiTF323549.

Family and domain databases

InterProiIPR025271. DUF4061.
[Graphical view]
PfamiPF13270. DUF4061. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421S → Y.
Corresponds to variant rs34538642 [ dbSNP | Ensembl ].
VAR_050744
Natural varianti82 – 821P → L.
Corresponds to variant rs2273510 [ dbSNP | Ensembl ].
VAR_050745

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY167571 mRNA. Translation: AAN87344.1.
AL121834 Genomic DNA. Translation: CAI42866.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY167571 mRNA. Translation: AAN87344.1.
AL121834 Genomic DNA. Translation: CAI42866.1.
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.

3D structure databases

ProteinModelPortaliQ8IWP9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117408. 8 interactions.
IntActiQ8IWP9. 8 interactions.
STRINGi9606.ENSP00000332716.

PTM databases

iPTMnetiQ8IWP9.
PhosphoSiteiQ8IWP9.

Polymorphism and mutation databases

BioMutaiCCDC28A.
DMDMi68052352.

Proteomic databases

MaxQBiQ8IWP9.
PaxDbiQ8IWP9.
PRIDEiQ8IWP9.
TopDownProteomicsiQ8IWP9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi25901.
GeneCardsiCCDC28A.
HGNCiHGNC:21098. CCDC28A.
HPAiHPA055125.
MIMi615353. gene.
neXtProtiNX_Q8IWP9.
PharmGKBiPA134939277.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJUP. Eukaryota.
ENOG4111KYE. LUCA.
GeneTreeiENSGT00500000044870.
HOGENOMiHOG000231321.
HOVERGENiHBG061498.
InParanoidiQ8IWP9.
OMAiPWCNKEL.
OrthoDBiEOG7ZPNMD.
PhylomeDBiQ8IWP9.
TreeFamiTF323549.

Miscellaneous databases

ChiTaRSiCCDC28A. human.
GenomeRNAii25901.
NextBioi47366.
PROiQ8IWP9.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IWP9.
CleanExiHS_CCDC28A.
ExpressionAtlasiQ8IWP9. baseline and differential.
GenevisibleiQ8IWP9. HS.

Family and domain databases

InterProiIPR025271. DUF4061.
[Graphical view]
PfamiPF13270. DUF4061. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Guo J.H., Chen S., Chen L., Yu L.
    Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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].
    Tissue: Colon, Prostate and Testis.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 33-274.
    Tissue: Uterus.
  6. "Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia."
    Tosi S., Ballabio E., Teigler-Schlegel A., Boultwood J., Bruch J., Harbott J.
    Genes Chromosomes Cancer 44:225-232(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH NUP98, DISEASE.
  7. Cited for: CHROMOSOMAL TRANSLOCATION WITH NUP98.

Entry informationi

Entry nameiCC28A_HUMAN
AccessioniPrimary (citable) accession number: Q8IWP9
Secondary accession number(s): E1P591
, Q32NC7, Q66K67, Q96E23, Q9Y430
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 21, 2005
Last sequence update: March 1, 2003
Last modified: April 13, 2016
This is version 94 of the entry and version 1 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

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

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

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.