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Protein

Cilia- and flagella-associated protein 45

Gene

CFAP45

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

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 45Imported
Alternative name(s):
Coiled-coil domain-containing protein 19Imported
Nasopharyngeal epithelium-specific protein 1Imported
Gene namesi
Name:CFAP45Imported
Synonyms:CCDC19Imported, NESG1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:17229. CFAP45.

Subcellular locationi

  • Cell projectioncilium By similarity

GO - Cellular componenti

  • cilium Source: UniProtKB-SubCell
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672179.

Polymorphism and mutation databases

BioMutaiCCDC19.
DMDMi254763259.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 551551Cilia- and flagella-associated protein 45PRO_0000089410Add
BLAST

Proteomic databases

MaxQBiQ9UL16.
PaxDbiQ9UL16.
PRIDEiQ9UL16.

PTM databases

iPTMnetiQ9UL16.
PhosphoSiteiQ9UL16.

Expressioni

Tissue specificityi

Expressed in nasopharyngeal epithelium and trachea but not in esophagus, stomach, large intestine, liver, cerebrum, heart, bladder, kidney, thymus, or lung.1 Publication

Gene expression databases

BgeeiQ9UL16.
CleanExiHS_CCDC19.
ExpressionAtlasiQ9UL16. baseline and differential.
GenevisibleiQ9UL16. HS.

Organism-specific databases

HPAiHPA042204.
HPA043618.

Interactioni

Protein-protein interaction databases

BioGridi117323. 4 interactions.
STRINGi9606.ENSP00000357079.

Structurei

3D structure databases

ProteinModelPortaliQ9UL16.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili157 – 526370Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the CFAP45 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IEDS. Eukaryota.
ENOG410YV97. LUCA.
GeneTreeiENSGT00730000111174.
HOGENOMiHOG000168948.
HOVERGENiHBG052599.
InParanoidiQ9UL16.
OMAiKDMEQRQ.
OrthoDBiEOG7MD4Q6.
PhylomeDBiQ9UL16.
TreeFamiTF327685.

Family and domain databases

InterProiIPR033253. CFAP45.
[Graphical view]
PANTHERiPTHR15504. PTHR15504. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9UL16-1) [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
MPLSTAGILS SSSAASNRSR NKARYRTKAV SSEVDESLFG DIKSPAQGQS
60 70 80 90 100
DSPIVLLRDK HTLQKTLTAL GLDRKPETIQ LITRDMVREL IVPTEDPSGE
110 120 130 140 150
SLIISPEEFE RIKWASHVLT REELEARDQA FKKEKEATMD AVMTRKKIMK
160 170 180 190 200
QKEMVWNNNK KLSDLEEVAK ERAQNLLQRA NKLRMEQEEE LKDMSKIILN
210 220 230 240 250
AKCHAIRDAQ ILEKQQIQKE LDTEEKRLDQ MMEVERQKSI QRQEELERKR
260 270 280 290 300
REERIRGRRQ IVEQMEKNQE ERSLLAEQRE QEKEQMLEYM EQLQEEDLKD
310 320 330 340 350
MERRQQQKLK MQAEIKRIND ENQKQKAELL AQEKLADQMV MEFTKKKMAR
360 370 380 390 400
EAEFEAEQER IRREKEKEIA RLRAMQEKAQ DYQAEQDALR AKRNQEVADR
410 420 430 440 450
EWRRKEKENA RKKMETEAEL RKSRLEQVAF KEHALAVQVQ RDRDEFERIL
460 470 480 490 500
RAQREQIEKE RLEEEKKATG RLQHANELRR QVRENQQKEV QNRIATFEEG
510 520 530 540 550
RRLKEEAQKR RERIDEIKRK KLEELRATGL PEKYCIEAER KANILPATSV

N
Length:551
Mass (Da):65,730
Last modified:July 28, 2009 - v2
Checksum:i494494858D1E90B4
GO
Isoform 2 (identifier: Q9UL16-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-85: Missing.

Note: No experimental confirmation available.
Show »
Length:466
Mass (Da):56,521
Checksum:i75E8DC8632427CF9
GO

Sequence cautioni

The sequence AAD55817.1 differs from that shown. Reason: Frameshift at position 441. Curated
The sequence AAD55817.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti291 – 2911E → G.
Corresponds to variant rs16842789 [ dbSNP | Ensembl ].
VAR_059600

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8585Missing in isoform 2. 1 PublicationVSP_056614Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF094758 mRNA. Translation: AAD55817.1. Sequence problems.
AL590560 Genomic DNA. Translation: CAH71107.1.
CH471121 Genomic DNA. Translation: EAW52766.1.
BC089391 mRNA. Translation: AAH89391.1.
CCDSiCCDS30914.1. [Q9UL16-1]
RefSeqiNP_036469.2. NM_012337.2. [Q9UL16-1]
UniGeneiHs.647705.

Genome annotation databases

EnsembliENST00000368099; ENSP00000357079; ENSG00000213085. [Q9UL16-1]
ENST00000426543; ENSP00000403044; ENSG00000213085. [Q9UL16-2]
GeneIDi25790.
KEGGihsa:25790.
UCSCiuc001fui.4. human. [Q9UL16-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF094758 mRNA. Translation: AAD55817.1. Sequence problems.
AL590560 Genomic DNA. Translation: CAH71107.1.
CH471121 Genomic DNA. Translation: EAW52766.1.
BC089391 mRNA. Translation: AAH89391.1.
CCDSiCCDS30914.1. [Q9UL16-1]
RefSeqiNP_036469.2. NM_012337.2. [Q9UL16-1]
UniGeneiHs.647705.

3D structure databases

ProteinModelPortaliQ9UL16.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117323. 4 interactions.
STRINGi9606.ENSP00000357079.

PTM databases

iPTMnetiQ9UL16.
PhosphoSiteiQ9UL16.

Polymorphism and mutation databases

BioMutaiCCDC19.
DMDMi254763259.

Proteomic databases

MaxQBiQ9UL16.
PaxDbiQ9UL16.
PRIDEiQ9UL16.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000368099; ENSP00000357079; ENSG00000213085. [Q9UL16-1]
ENST00000426543; ENSP00000403044; ENSG00000213085. [Q9UL16-2]
GeneIDi25790.
KEGGihsa:25790.
UCSCiuc001fui.4. human. [Q9UL16-1]

Organism-specific databases

CTDi25790.
GeneCardsiCFAP45.
H-InvDBHIX0114180.
HIX0114293.
HGNCiHGNC:17229. CFAP45.
HPAiHPA042204.
HPA043618.
MIMi605152. gene.
neXtProtiNX_Q9UL16.
PharmGKBiPA142672179.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEDS. Eukaryota.
ENOG410YV97. LUCA.
GeneTreeiENSGT00730000111174.
HOGENOMiHOG000168948.
HOVERGENiHBG052599.
InParanoidiQ9UL16.
OMAiKDMEQRQ.
OrthoDBiEOG7MD4Q6.
PhylomeDBiQ9UL16.
TreeFamiTF327685.

Miscellaneous databases

ChiTaRSiCCDC19. human.
GenomeRNAii25790.
PROiQ9UL16.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UL16.
CleanExiHS_CCDC19.
ExpressionAtlasiQ9UL16. baseline and differential.
GenevisibleiQ9UL16. HS.

Family and domain databases

InterProiIPR033253. CFAP45.
[Graphical view]
PANTHERiPTHR15504. PTHR15504. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of a novel tissue-specific gene from human nasopharyngeal epithelium."
    Li Z., Yao K., Cao Y.
    Gene 237:235-240(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Nasopharyngeal epithelium.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [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] (ISOFORM 2).
    Tissue: Testis.

Entry informationi

Entry nameiCFA45_HUMAN
AccessioniPrimary (citable) accession number: Q9UL16
Secondary accession number(s): C9JH28, Q05BA3, Q5VU18
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: July 28, 2009
Last modified: June 8, 2016
This is version 100 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 1
    Human chromosome 1: 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
  5. SIMILARITY comments
    Index of protein domains and families

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.