UniProtKB - Q9C0B2 (CFA74_HUMAN)
Protein
Cilia- and flagella-associated protein 74
Gene
CFAP74
Organism
Homo sapiens (Human)
Status
Functioni
As part of the central apparatus of the cilium axoneme may play a role in cilium movement.By similarity
GO - Biological processi
- axoneme assembly Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9C0B2 |
Names & Taxonomyi
Protein namesi | Recommended name: Cilia- and flagella-associated protein 74Curated |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000142609.17 |
HGNCi | HGNC:29368, CFAP74 |
neXtProti | NX_Q9C0B2 |
Subcellular locationi
Cytoskeleton
- cilium axoneme By similarity
Cytoskeleton
- axoneme Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, CytoskeletonPathology & Biotechi
Organism-specific databases
DisGeNETi | 85452 |
OpenTargetsi | ENSG00000142609 |
PharmGKBi | PA142671598 |
Miscellaneous databases
Pharosi | Q9C0B2, Tdark |
Polymorphism and mutation databases
BioMutai | CFAP74 |
DMDMi | 172046227 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000324664 | 1 – 1584 | Cilia- and flagella-associated protein 74CuratedAdd BLAST | 1584 |
Proteomic databases
EPDi | Q9C0B2 |
jPOSTi | Q9C0B2 |
MassIVEi | Q9C0B2 |
PaxDbi | Q9C0B2 |
PeptideAtlasi | Q9C0B2 |
PRIDEi | Q9C0B2 |
ProteomicsDBi | 45643 66171 79986 [Q9C0B2-1] 79987 [Q9C0B2-2] 79988 [Q9C0B2-3] |
TopDownProteomicsi | Q9C0B2-2 [Q9C0B2-2] |
PTM databases
iPTMneti | Q9C0B2 |
PhosphoSitePlusi | Q9C0B2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000142609, Expressed in right uterine tube and 124 other tissues |
ExpressionAtlasi | Q9C0B2, baseline and differential |
Genevisiblei | Q9C0B2, HS |
Organism-specific databases
HPAi | ENSG00000142609, Tissue enhanced (brain, fallopian tube, testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 124537, 5 interactors |
IntActi | Q9C0B2, 6 interactors |
STRINGi | 9606.ENSP00000417061 |
Miscellaneous databases
RNActi | Q9C0B2, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 300 – 379 | Sequence analysisAdd BLAST | 80 |
Sequence similaritiesi
Belongs to the CFAP74 family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QPUP, Eukaryota |
GeneTreei | ENSGT00900000141054 |
HOGENOMi | CLU_243984_0_0_1 |
InParanoidi | Q9C0B2 |
OMAi | CPTVAPS |
OrthoDBi | 1032303at2759 |
TreeFami | TF343713 |
Family and domain databases
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR013783, Ig-like_fold |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9C0B2-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEDDGSLLPE DELLADALLL EDERDELEDP EFDIKCLLQE AEDDVDPGHS
60 70 80 90 100
SSVKELDTDA DKLKKKTAED RTQAFHLRQN LSALDKMHEE QELFTEKMRG
110 120 130 140 150
ELRACRQRRD LIDKQQEAVA AEIATEEEAG NMAAVGRLQA VSRRLFAELE
160 170 180 190 200
NERDLQSRTE AVLKESENTM WHIEIQEGRL EAFRTADREE VEATGRRLQV
210 220 230 240 250
RAAEQLCREQ EALGKVERNR LLRIRKSLNT QKELGLRHQK LLEDARKNHK
260 270 280 290 300
VAVRFLKASL GRIREQEKKE EMECHEYMRR RMDAVVALKG SISANRDTLR
310 320 330 340 350
KFQAWDRAKA ELAEQRVQAE KKAILAQGRD AFRHLVHQRR RQELEAQKRA
360 370 380 390 400
FEEEQKLRKQ EIISRILKEE AEEEKRKKQH PPTSARHRLT LRDKTWNYIS
410 420 430 440 450
DFCKKTTVPT NTYTLDYEAA AGPGPSRLLE VVSSELIQGD PGASSEEETL
460 470 480 490 500
AEPEISGLWN EDYKPYQVPK EDVDRKPVGG TKMDKDILER TVERLRSRVV
510 520 530 540 550
HKQVVWGREF QGRPFNSKPE LLHFQDFDIG KVYKKKITLV NTTYTINYCK
560 570 580 590 600
LVGVEEHLRD FIHVDFDPPG PLSAGMSCEV LVTFKPMINK DLEGNISFLA
610 620 630 640 650
QTGEFSVPLK CSTKKCSLSL DKELIDFGSY VVGETTSRTI TLTNVGGLGT
660 670 680 690 700
TFKFLPASEP CEMDDSQSAL KLSSLLTYED KSLYDKAATS FSEQQLEGTE
710 720 730 740 750
SSQADMQSRK ELEKLDKEQE EEQPAEPERL TTVIPPSEEQ TEITLGEVTE
760 770 780 790 800
GEIGPFSSIK VPIVFTPVVP GDVQARFKVT FKNPQCPTLH FRVVGVAIDV
810 820 830 840 850
PVWVPKPSVD LKICMYDRLY QDSVLVHTRS KAALRLKFEV CKELRAHLEL
860 870 880 890 900
LPKTGYIQAQ SSYSVQLKFL PRHSLPEDAG RYFDKETRVL EAPMTIWVAD
910 920 930 940 950
QNKPVGFTVH AIVTTSDLEL SPSEVDFGYC TIYEAIRTEI SLHNHSLLPQ
960 970 980 990 1000
EFGFVRLPKF VDVQPNDGFG TILPLETLQF CVIFQPTKAE EHRFQLTCKS
1010 1020 1030 1040 1050
EINRCFKLSC RAVGVHPPLE LSHYQIKFAA TALYDTSVAT VYVINSHLSM
1060 1070 1080 1090 1100
SSPTHSKPRI GSEDASPMGP TSFEFLLPPD SPITISPSVG TVWPGKRCLV
1110 1120 1130 1140 1150
QVAFRPVLPE KLIRQEALPL LNKEMETKSF RKNMAPQRKD LHGLSFSVLR
1160 1170 1180 1190 1200
AQNRDKLFKV SVPHVLEMRK RELRPSSDEY QAARATLLRA FQAKFDTFVV
1210 1220 1230 1240 1250
PCVVASGDIK DRKGSEPLSF SPHNTLYLEL WCPTVAPSVV VTSHKGKTIF
1260 1270 1280 1290 1300
NFGDVAVGHR SIKKISIQNV SPEDLALDFS LLNPNGPFVL LNHSSLLRAG
1310 1320 1330 1340 1350
GTQVLVLSFS PHESILAQET LDIITKRGTL TLTLMGTGVA SMITCSIEGS
1360 1370 1380 1390 1400
VLNMGYVIAG ESVSSGFKLQ NNSLLPIKFS MHLDSLSSTR GRGQQQLPQF
1410 1420 1430 1440 1450
LSSPSQRTEV VGTQNLNGQS VFSVAPVKGV MDPGKTQDFT VTFSPDHESL
1460 1470 1480 1490 1500
YFSDKLQVVL FEKKISHQIL LKGAACQHMM FVEGGDPLDV PVESLTAIPV
1510 1520 1530 1540 1550
FDPRHREEAE ELRPILVTLD YIQFDTDTPA PPATRELQVG CIRTTQPSPK
1560 1570 1580
KPDHPLMVSA LLQLRGDVKE TYKVIFVAQV LTGP
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8YEX1 | A0A2R8YEX1_HUMAN | Cilia- and flagella-associated prot... | CFAP74 | 1,046 | Annotation score: | ||
Q5T2D8 | Q5T2D8_HUMAN | Cilia- and flagella-associated prot... | CFAP74 | 92 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 18 | L → F in BAC86954 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 207 | C → R in AAI39755 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 335 | L → F in AAI39755 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_039873 | 50 | S → I. Corresponds to variant dbSNP:rs13303083Ensembl. | 1 | |
Natural variantiVAR_039874 | 363 | I → V. Corresponds to variant dbSNP:rs16824588Ensembl. | 1 | |
Natural variantiVAR_039875 | 628 | G → C. Corresponds to variant dbSNP:rs3820011Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_032345 | 168 – 1584 | Missing in isoform 3. 1 PublicationAdd BLAST | 1417 | |
Alternative sequenceiVSP_057369 | 726 – 851 | EPERL…HLELL → VLFLEWTKMYIHVDANRRLE GTSSIGPAGPARAEPHRAGK RLCGAPWRGRAAGGFCLALQ LWLLLDAHQRGEVPRNGRAL PSPCLLPCSPPPSGIACVSS LLLLIVFPHTHRDPETSVLL LSVFAW in isoform 2. 1 PublicationAdd BLAST | 126 | |
Alternative sequenceiVSP_057370 | 852 – 1584 | Missing in isoform 2. 1 PublicationAdd BLAST | 733 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK127388 mRNA Translation: BAC86954.1 AL391845 Genomic DNA No translation available. AL109917 Genomic DNA No translation available. BC114926 mRNA Translation: AAI14927.1 Sequence problems. BC139754 mRNA Translation: AAI39755.1 AB051538 mRNA Translation: BAB21842.1 Sequence problems. AL137547 mRNA Translation: CAH10703.1 Sequence problems. |
RefSeqi | NP_001291289.1, NM_001304360.1 |
Genome annotation databases
Ensembli | ENST00000493964; ENSP00000417061; ENSG00000142609 [Q9C0B2-1] |
GeneIDi | 85452 |
KEGGi | hsa:85452 |
UCSCi | uc057bjv.1, human |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK127388 mRNA Translation: BAC86954.1 AL391845 Genomic DNA No translation available. AL109917 Genomic DNA No translation available. BC114926 mRNA Translation: AAI14927.1 Sequence problems. BC139754 mRNA Translation: AAI39755.1 AB051538 mRNA Translation: BAB21842.1 Sequence problems. AL137547 mRNA Translation: CAH10703.1 Sequence problems. |
RefSeqi | NP_001291289.1, NM_001304360.1 |
3D structure databases
SMRi | Q9C0B2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124537, 5 interactors |
IntActi | Q9C0B2, 6 interactors |
STRINGi | 9606.ENSP00000417061 |
PTM databases
iPTMneti | Q9C0B2 |
PhosphoSitePlusi | Q9C0B2 |
Polymorphism and mutation databases
BioMutai | CFAP74 |
DMDMi | 172046227 |
Proteomic databases
EPDi | Q9C0B2 |
jPOSTi | Q9C0B2 |
MassIVEi | Q9C0B2 |
PaxDbi | Q9C0B2 |
PeptideAtlasi | Q9C0B2 |
PRIDEi | Q9C0B2 |
ProteomicsDBi | 45643 66171 79986 [Q9C0B2-1] 79987 [Q9C0B2-2] 79988 [Q9C0B2-3] |
TopDownProteomicsi | Q9C0B2-2 [Q9C0B2-2] |
Protocols and materials databases
Antibodypediai | 26630, 34 antibodies |
Genome annotation databases
Ensembli | ENST00000493964; ENSP00000417061; ENSG00000142609 [Q9C0B2-1] |
GeneIDi | 85452 |
KEGGi | hsa:85452 |
UCSCi | uc057bjv.1, human |
Organism-specific databases
CTDi | 85452 |
DisGeNETi | 85452 |
EuPathDBi | HostDB:ENSG00000142609.17 |
GeneCardsi | CFAP74 |
HGNCi | HGNC:29368, CFAP74 |
HPAi | ENSG00000142609, Tissue enhanced (brain, fallopian tube, testis) |
neXtProti | NX_Q9C0B2 |
OpenTargetsi | ENSG00000142609 |
PharmGKBi | PA142671598 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPUP, Eukaryota |
GeneTreei | ENSGT00900000141054 |
HOGENOMi | CLU_243984_0_0_1 |
InParanoidi | Q9C0B2 |
OMAi | CPTVAPS |
OrthoDBi | 1032303at2759 |
TreeFami | TF343713 |
Enzyme and pathway databases
PathwayCommonsi | Q9C0B2 |
Miscellaneous databases
BioGRID-ORCSi | 85452, 2 hits in 68 CRISPR screens |
ChiTaRSi | CFAP74, human |
GenomeRNAii | 85452 |
Pharosi | Q9C0B2, Tdark |
PROi | PR:Q9C0B2 |
RNActi | Q9C0B2, protein |
Gene expression databases
Bgeei | ENSG00000142609, Expressed in right uterine tube and 124 other tissues |
ExpressionAtlasi | Q9C0B2, baseline and differential |
Genevisiblei | Q9C0B2, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR013783, Ig-like_fold |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CFA74_HUMAN | |
Accessioni | Q9C0B2Primary (citable) accession number: Q9C0B2 Secondary accession number(s): A4VCI2 Q6ZSJ4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 18, 2008 |
Last sequence update: | February 4, 2015 | |
Last modified: | December 2, 2020 | |
This is version 113 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations