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Protein

Cilia- and flagella-associated protein 69

Gene

CFAP69

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 69Imported
Gene namesi
Name:CFAP69Imported
Synonyms:C7orf63Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:26107. CFAP69.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162380735.

Polymorphism and mutation databases

BioMutaiC7orf63.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 941941Cilia- and flagella-associated protein 69CuratedPRO_0000320596Add
BLAST

Proteomic databases

PaxDbiA5D8W1.
PRIDEiA5D8W1.

PTM databases

PhosphoSiteiA5D8W1.

Expressioni

Gene expression databases

BgeeiA5D8W1.
CleanExiHS_C7orf63.
ExpressionAtlasiA5D8W1. baseline and differential.
GenevisibleiA5D8W1. HS.

Organism-specific databases

HPAiHPA062883.

Structurei

3D structure databases

ProteinModelPortaliA5D8W1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi21 – 255Poly-Ser

Phylogenomic databases

eggNOGiENOG410IEVQ. Eukaryota.
ENOG410XTAP. LUCA.
GeneTreeiENSGT00390000014274.
HOVERGENiHBG107669.
InParanoidiA5D8W1.
OMAiHITGYQQ.
OrthoDBiEOG7VMP4C.
PhylomeDBiA5D8W1.
TreeFamiTF328355.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A5D8W1-1) [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
MWTEEAGATA EAQESGIRNK SSSSSQIPVV GVVTEDDEAQ DVFKPMDLNR
60 70 80 90 100
VIKLLEETDK DGLEEKQLKF VKKLVQCYQN GLPLRDLAQI FKILNLCSGK
110 120 130 140 150
IKNQPRFIES AYDIIKLCGL PFLKKKVSDE ITYAEDTANS IALLGDLMKI
160 170 180 190 200
PSSELRIQIC KCIVDFYHAE PPKKHIPGYQ QASSSYKIQM AEVGGLAKTM
210 220 230 240 250
VQSMTLLENQ LVEKLWVLKV LQHLSTSEVN CTIMMKAQAA SGICTHLNDP
260 270 280 290 300
DPSGQLLFRS SEILWNLLEK SSKEEVIQQL SNLECLLALK EVFKNLFMRG
310 320 330 340 350
FSHYDRQLRN DILVITTIIA QNPEAPMIEC GFTKDLILFA TFNEVKSQNL
360 370 380 390 400
LVKGLKLSNS YEDFELKKLL FNVIVILCKD LPTVQLLIDG KVILALFTYV
410 420 430 440 450
KKPEKQKIID WSAAQHEELQ LHAIATLSSV APLLIEEYMS CQGNARVLAF
460 470 480 490 500
LEWCESEDPF FSHGNSFHGT GGRGNKFAQM RYSLRLLRAV VYLEDETVNK
510 520 530 540 550
DLCEKGTIQQ MIGIFKNIIS KPNEKEEAIV LEIQSDILLI LSGLCENHIQ
560 570 580 590 600
RKEIFGTEGV DIVLHVMKTD PRKLQSGLGY NVLLFSTLDS IWCCILGCYP
610 620 630 640 650
SEDYFLEKEG IFLLLDLLAL NQKKFCNLIL GIMVEFCDNP KTAAHVNAWQ
660 670 680 690 700
GKKDQTAASL LIKLWRKEEK ELGVKRDKNG KIIDTKKPLF TSFQEEQKII
710 720 730 740 750
PLPANCPSIA VMDVSENIRA KIYAILGKLD FENLPGLSAE DFVTLCIIHR
760 770 780 790 800
YLDFKIGEIW NEIYEEIKLE KLRPVTTDKK ALEAITTASE NIGKMVASLQ
810 820 830 840 850
SDIIESQACQ DMQNEQKVYA KIQATHKQRE LANKSWEDFL ARTSNAKTLK
860 870 880 890 900
KAKSLQEKAI EASRYHKRPQ NAIFHQTHIK GLNTTVPSGG VVTVESTPAR
910 920 930 940
LVGGPLVDTD IALKKLPIRG GALQRVKAVK IVDAPKKSIP T
Length:941
Mass (Da):105,883
Last modified:March 3, 2009 - v3
Checksum:iBE2C49835F217D1F
GO
Isoform 2 (identifier: A5D8W1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     685-730: Missing.

Note: Incomplete sequence.
Show »
Length:895
Mass (Da):100,769
Checksum:iE313CE137D8AF8A1
GO
Isoform 3 (identifier: A5D8W1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     228-229: EV → GL
     230-941: Missing.

Show »
Length:229
Mass (Da):25,619
Checksum:i51EF125283DDDB7B
GO
Isoform 4 (identifier: A5D8W1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     118-119: Missing.
     228-229: EV → GL
     230-941: Missing.

Note: No experimental confirmation available.
Show »
Length:227
Mass (Da):25,459
Checksum:iEA362CED622F6988
GO
Isoform 5 (identifier: A5D8W1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-178: Missing.

Show »
Length:923
Mass (Da):103,822
Checksum:i8BFACBBDC33197A3
GO

Sequence cautioni

The sequence BAB14972.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti101 – 1011I → V in BAG64159 (PubMed:14702039).Curated
Sequence conflicti125 – 1251K → R in AAQ56720 (Ref. 1) Curated
Sequence conflicti420 – 4201Q → H in BAB14972 (PubMed:14702039).Curated
Sequence conflicti854 – 8541S → R in BAB14972 (PubMed:14702039).Curated
Sequence conflicti854 – 8541S → R in BAG63878 (PubMed:14702039).Curated
Sequence conflicti854 – 8541S → R in BAG64159 (PubMed:14702039).Curated
Sequence conflicti854 – 8541S → R in AAI32772 (PubMed:15489334).Curated
Sequence conflicti854 – 8541S → R in AAI41835 (PubMed:15489334).Curated
Sequence conflicti854 – 8541S → R in AAI42656 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221S → R.
Corresponds to variant rs17862129 [ dbSNP | Ensembl ].
VAR_039219
Natural varianti306 – 3061R → C.
Corresponds to variant rs17866223 [ dbSNP | Ensembl ].
VAR_039220
Natural varianti459 – 4591P → L.
Corresponds to variant rs17865959 [ dbSNP | Ensembl ].
VAR_039221
Natural varianti490 – 4901V → M.2 Publications
Corresponds to variant rs1029365 [ dbSNP | Ensembl ].
VAR_039222
Natural varianti885 – 8851T → M.2 Publications
Corresponds to variant rs17865475 [ dbSNP | Ensembl ].
VAR_039223

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei118 – 1192Missing in isoform 4. 1 PublicationVSP_031673
Alternative sequencei161 – 17818Missing in isoform 5. 1 PublicationVSP_036548Add
BLAST
Alternative sequencei228 – 2292EV → GL in isoform 3 and isoform 4. 2 PublicationsVSP_031674
Alternative sequencei230 – 941712Missing in isoform 3 and isoform 4. 2 PublicationsVSP_031675Add
BLAST
Alternative sequencei685 – 73046Missing in isoform 2. 1 PublicationVSP_031676Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY349356 mRNA. Translation: AAQ56720.1.
AK024715 mRNA. Translation: BAB14972.1. Different initiation.
AK302636 mRNA. Translation: BAG63878.1.
AK303034 mRNA. Translation: BAG64159.1.
AC002064 Genomic DNA. No translation available.
BC036351 mRNA. Translation: AAH36351.1.
BC132771 mRNA. Translation: AAI32772.1.
BC140742 mRNA. Translation: AAI40743.1.
BC141834 mRNA. Translation: AAI41835.1.
BC142655 mRNA. Translation: AAI42656.1.
CCDSiCCDS43613.2. [A5D8W1-1]
CCDS55122.1. [A5D8W1-5]
RefSeqiNP_001034795.2. NM_001039706.2. [A5D8W1-1]
NP_001153610.1. NM_001160138.1. [A5D8W1-5]
UniGeneiHs.521014.
Hs.657403.

Genome annotation databases

EnsembliENST00000389297; ENSP00000373948; ENSG00000105792. [A5D8W1-1]
ENST00000451029; ENSP00000411234; ENSG00000105792. [A5D8W1-3]
ENST00000497910; ENSP00000419549; ENSG00000105792. [A5D8W1-5]
GeneIDi79846.
KEGGihsa:79846.
UCSCiuc010lep.3. human. [A5D8W1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY349356 mRNA. Translation: AAQ56720.1.
AK024715 mRNA. Translation: BAB14972.1. Different initiation.
AK302636 mRNA. Translation: BAG63878.1.
AK303034 mRNA. Translation: BAG64159.1.
AC002064 Genomic DNA. No translation available.
BC036351 mRNA. Translation: AAH36351.1.
BC132771 mRNA. Translation: AAI32772.1.
BC140742 mRNA. Translation: AAI40743.1.
BC141834 mRNA. Translation: AAI41835.1.
BC142655 mRNA. Translation: AAI42656.1.
CCDSiCCDS43613.2. [A5D8W1-1]
CCDS55122.1. [A5D8W1-5]
RefSeqiNP_001034795.2. NM_001039706.2. [A5D8W1-1]
NP_001153610.1. NM_001160138.1. [A5D8W1-5]
UniGeneiHs.521014.
Hs.657403.

3D structure databases

ProteinModelPortaliA5D8W1.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

PhosphoSiteiA5D8W1.

Polymorphism and mutation databases

BioMutaiC7orf63.

Proteomic databases

PaxDbiA5D8W1.
PRIDEiA5D8W1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389297; ENSP00000373948; ENSG00000105792. [A5D8W1-1]
ENST00000451029; ENSP00000411234; ENSG00000105792. [A5D8W1-3]
ENST00000497910; ENSP00000419549; ENSG00000105792. [A5D8W1-5]
GeneIDi79846.
KEGGihsa:79846.
UCSCiuc010lep.3. human. [A5D8W1-1]

Organism-specific databases

CTDi79846.
GeneCardsiCFAP69.
HGNCiHGNC:26107. CFAP69.
HPAiHPA062883.
neXtProtiNX_A5D8W1.
PharmGKBiPA162380735.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEVQ. Eukaryota.
ENOG410XTAP. LUCA.
GeneTreeiENSGT00390000014274.
HOVERGENiHBG107669.
InParanoidiA5D8W1.
OMAiHITGYQQ.
OrthoDBiEOG7VMP4C.
PhylomeDBiA5D8W1.
TreeFamiTF328355.

Miscellaneous databases

ChiTaRSiC7orf63. human.
GenomeRNAii79846.
NextBioi69542.
PROiA5D8W1.

Gene expression databases

BgeeiA5D8W1.
CleanExiHS_C7orf63.
ExpressionAtlasiA5D8W1. baseline and differential.
GenevisibleiA5D8W1. HS.

Family and domain databases

InterProiIPR016024. ARM-type_fold.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 2 hits.
ProtoNetiSearch...

Publicationsi

  1. Zhou G., Zhong G., Li H., Ke R., Shen C., Yu R., Lin L., Yang S.
    Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 418-941 (ISOFORM 2), VARIANTS MET-490 AND MET-885.
    Tissue: Testis.
  3. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    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] (ISOFORMS 1 AND 3), VARIANTS MET-490 AND MET-885.
    Tissue: Brain.

Entry informationi

Entry nameiCFA69_HUMAN
AccessioniPrimary (citable) accession number: A5D8W1
Secondary accession number(s): A3KMP9
, B4DYW6, B4DZP7, B9EIM7, Q6V705, Q8IY89, Q9H7C2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: March 3, 2009
Last modified: March 16, 2016
This is version 78 of the entry and version 3 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 7
    Human chromosome 7: 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.