UniProtKB - Q8NHU2 (CFA61_HUMAN)
Protein
Cilia- and flagella-associated protein 61
Gene
CFAP61
Organism
Homo sapiens (Human)
Status
Functioni
May regulate cilium motility through its role in the assembly of the axonemal radial spokes.By similarity
GO - Biological processi
- cilium movement Source: UniProtKB
- cilium organization Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q8NHU2 |
Names & Taxonomyi
Protein namesi | Recommended name: Cilia- and flagella-associated protein 61Imported |
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
HGNCi | HGNC:15872, CFAP61 |
neXtProti | NX_Q8NHU2 |
VEuPathDBi | HostDB:ENSG00000089101.17 |
Subcellular locationi
Cytoskeleton
- cilium axoneme By similarity
Cytoskeleton
- axoneme Source: UniProtKB
Other locations
- motile cilium Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cytoplasm, CytoskeletonPathology & Biotechi
Organism-specific databases
DisGeNETi | 26074 |
OpenTargetsi | ENSG00000089101 |
PharmGKBi | PA25741 |
Miscellaneous databases
Pharosi | Q8NHU2, Tdark |
Genetic variation databases
BioMutai | CFAP61 |
DMDMi | 116241319 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000079417 | 1 – 1237 | Cilia- and flagella-associated protein 61CuratedAdd BLAST | 1237 |
Proteomic databases
MassIVEi | Q8NHU2 |
PaxDbi | Q8NHU2 |
PeptideAtlasi | Q8NHU2 |
PRIDEi | Q8NHU2 |
ProteomicsDBi | 73753 [Q8NHU2-1] 73754 [Q8NHU2-3] 73755 [Q8NHU2-4] 73756 [Q8NHU2-5] 73757 [Q8NHU2-6] |
PTM databases
iPTMneti | Q8NHU2 |
PhosphoSitePlusi | Q8NHU2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000089101, Expressed in skeletal muscle tissue and 121 other tissues |
ExpressionAtlasi | Q8NHU2, baseline and differential |
Genevisiblei | Q8NHU2, HS |
Organism-specific databases
HPAi | ENSG00000089101, Tissue enhanced (fallopian tube, heart muscle, pituitary gland, skeletal muscle, testis) |
Interactioni
Protein-protein interaction databases
IntActi | Q8NHU2, 1 interactor |
MINTi | Q8NHU2 |
STRINGi | 9606.ENSP00000245957 |
Miscellaneous databases
RNActi | Q8NHU2, protein |
Family & Domainsi
Phylogenomic databases
eggNOGi | ENOG502QSEC, Eukaryota |
GeneTreei | ENSGT00390000004987 |
HOGENOMi | CLU_037088_0_0_1 |
InParanoidi | Q8NHU2 |
OMAi | WTHSNFN |
OrthoDBi | 38948at2759 |
PhylomeDBi | Q8NHU2 |
TreeFami | TF323897 |
Family and domain databases
Gene3Di | 3.50.50.60, 2 hits |
InterProi | View protein in InterPro IPR038884, CFAP61 IPR032151, CFAP61_N IPR036188, FAD/NAD-bd_sf |
PANTHERi | PTHR21178, PTHR21178, 1 hit |
Pfami | View protein in Pfam PF16092, DUF4821, 1 hit |
SUPFAMi | SSF51905, SSF51905, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketNote: Experimental confirmation may be lacking for some isoforms.
This entry has 5 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NHU2-1) [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
MSVLTSPRGK VEVVHCRRTE SQDVYCIKSL IRKFTCKLFG KLNIIYLLEK
60 70 80 90 100
ANLAVTLCND KEEIMAQATF LDYPNWNVAK QDDWVSVFRE LDSDIPCTPL
110 120 130 140 150
NTLFMHLFVA VDEYSVGCCK EILRTVYKAV PELHFIFLIV PSYMSLGSTL
160 170 180 190 200
ITVFDQVGNI PCLTYEEDFA VHICHRHSHY PQLHVRKARV EDHDDLMPIF
210 220 230 240 250
MRYDTILKET YGEYFLAELI EAQDEENHAV VCEVEGTAVG FMSVCSRVNM
260 270 280 290 300
QLLHECFDLG PFHGLCFPHP DDVLESPQDL SVRRSQDAEL RSSSQGSQKI
310 320 330 340 350
VEELQEPVSP DTMENIQGNI AREAASEEAL TAVQSGNVSE PEDIEKLSDI
360 370 380 390 400
STGYAQYHHV SSRSLASLVL PEEPVHFRPI YRGASAAFCI QLFCIDEKYE
410 420 430 440 450
ARSLDFMNFV FSLFSDKNFC VISLPHLTPE FFLIQNFVKM VPFNTCTLEQ
460 470 480 490 500
DLYVFHRAGL LKSINIRFAT LLDTPGVENL VSTLMLNKSI LEDLDRYNKA
510 520 530 540 550
RKDPDGTLLQ AFVAEVAEQI VGIAVIRNEM DIEYIRSHYN IEDFIYFSHH
560 570 580 590 600
QREEHGHMHH FALNPIFRHY TKFFLKEILR LGFKSCLYYR VYPKSREGKF
610 620 630 640 650
QNPYAHSLTS ALHYLVPVRP RRQIVYPLEK LGINAPSKAV SKDPMSYALN
660 670 680 690 700
HTNRKLTLEP KITVNAKIIV VGASSVGISF LETLVFCSHM KFNNLTLIST
710 720 730 740 750
HGLPGKKLLD TEQRKFLASD HCFNDKDYAL MSLCSWVNVV VGRMTGIDRA
760 770 780 790 800
AKHVVLSTDE IVPYDHLILC TGQQYQVPCP TEADISQHLT NREVPNSSQR
810 820 830 840 850
RYTGKVPCNH FTLNEEEDCF KALIWIRNNS ITTEGNIIVY GNTIDTYTTV
860 870 880 890 900
ETLLNLGVSG SRIHLVQPPP ASTITCINNY SVESAVADAL GAAGVTMYRD
910 920 930 940 950
AILAQWNDGL HPDPIYSASF TTPTKPFRLQ CSMFFSFCEK NVDYETFKAL
960 970 980 990 1000
NDACLVYDSR LVIDTNFHTN DIAIRAAGSL TKFSNRYYSN EWTHSNFSSK
1010 1020 1030 1040 1050
EIGFQLAAAM LHLFDPTLEP VTEPPANLDR LIPMYKGAKI QGGILPGSYH
1060 1070 1080 1090 1100
YLHIAKPAIP TPLEVQMAQP NYGLELVTGS AKNGTYFRIH INKYKMVETI
1110 1120 1130 1140 1150
TCLSREPFPA SNYIRLFGQH EQLLNNLCAR YDENLITDLY SYFTEPWCLA
1160 1170 1180 1190 1200
LFHDRFIDLR KELRQILASK EEEDLPSIEQ LAHQIEDEEI NPTEKPRQYL
1210 1220 1230
KRVFEESIYK TLVERSTLDY LHYNRYHLPM YAWPGIV
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8W6E2 | F8W6E2_HUMAN | Cilia- and flagella-associated prot... | CFAP61 | 370 | Annotation score: | ||
A0A6I8PRQ8 | A0A6I8PRQ8_HUMAN | Cilia- and flagella-associated prot... | CFAP61 | 705 | Annotation score: | ||
A0A6I8PIN3 | A0A6I8PIN3_HUMAN | Cilia- and flagella-associated prot... | CFAP61 | 54 | Annotation score: | ||
C9JMV0 | C9JMV0_HUMAN | Cilia- and flagella-associated prot... | CFAP61 | 160 | Annotation score: | ||
C9J610 | C9J610_HUMAN | Cilia- and flagella-associated prot... | CFAP61 | 135 | Annotation score: | ||
H0Y3Y7 | H0Y3Y7_HUMAN | Cilia- and flagella-associated prot... | CFAP61 | 227 | Annotation score: | ||
C9JHE8 | C9JHE8_HUMAN | Cilia- and flagella-associated prot... | CFAP61 | 189 | Annotation score: | ||
C9JA66 | C9JA66_HUMAN | Cilia- and flagella-associated prot... | CFAP61 | 67 | Annotation score: | ||
F8WDF5 | F8WDF5_HUMAN | Cilia- and flagella-associated prot... | CFAP61 | 55 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 650 | N → S in AAH31674 (PubMed:15489334).Curated | 1 | ||
Isoform 6 (identifier: Q8NHU2-6) | |||||
Sequence conflicti | 123 | L → P in BAB71452 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027981 | 74 | P → R1 PublicationCorresponds to variant dbSNP:rs17852602Ensembl. | 1 | |
Natural variantiVAR_027982 | 254 | H → R. Corresponds to variant dbSNP:rs6075614Ensembl. | 1 | |
Natural variantiVAR_027983 | 369 | V → I1 PublicationCorresponds to variant dbSNP:rs6081901Ensembl. | 1 | |
Natural variantiVAR_027984 | 371 | P → L. Corresponds to variant dbSNP:rs6075628Ensembl. | 1 | |
Natural variantiVAR_027985 | 505 | D → E. Corresponds to variant dbSNP:rs7344530Ensembl. | 1 | |
Natural variantiVAR_027986 | 660 | P → L. Corresponds to variant dbSNP:rs6081930Ensembl. | 1 | |
Natural variantiVAR_027987 | 671 | V → I. Corresponds to variant dbSNP:rs6046740Ensembl. | 1 | |
Natural variantiVAR_069396 | 790 | T → P1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_003802 | 1 – 644 | Missing in isoform 5 and isoform 6. 2 PublicationsAdd BLAST | 644 | |
Alternative sequenceiVSP_003798 | 343 – 402 | Missing in isoform 4. CuratedAdd BLAST | 60 | |
Alternative sequenceiVSP_003799 | 463 – 470 | SINIRFAT → NICLGRSS in isoform 3. 1 Publication | 8 | |
Alternative sequenceiVSP_003800 | 471 – 1237 | Missing in isoform 3. 1 PublicationAdd BLAST | 767 | |
Alternative sequenceiVSP_003803 | 835 – 844 | GNIIVYGNTI → DGGRASVLFC in isoform 5. 1 Publication | 10 | |
Alternative sequenceiVSP_003804 | 845 – 1237 | Missing in isoform 5. 1 PublicationAdd BLAST | 393 | |
Alternative sequenceiVSP_013682 | 933 – 964 | MFFSF…RLVID → GAFFLGLTIICILPSLPFQL PWRYKWHSLIMV in isoform 6. 1 PublicationAdd BLAST | 32 | |
Alternative sequenceiVSP_013683 | 965 – 1237 | Missing in isoform 6. 1 PublicationAdd BLAST | 273 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK057364 mRNA Translation: BAB71452.1 AL117439 mRNA Translation: CAB55925.1 AL035454 Genomic DNA No translation available. AL049648 Genomic DNA No translation available. AL121721 Genomic DNA No translation available. AL161658 Genomic DNA No translation available. BC028708 mRNA Translation: AAH28708.2 BC031674 mRNA Translation: AAH31674.1 |
CCDSi | CCDS33447.1 [Q8NHU2-1] CCDS54452.1 [Q8NHU2-3] |
RefSeqi | NP_001161288.1, NM_001167816.1 [Q8NHU2-3] NP_056400.3, NM_015585.3 [Q8NHU2-1] XP_005260746.1, XM_005260689.2 [Q8NHU2-1] XP_011527515.1, XM_011529213.1 [Q8NHU2-3] |
Genome annotation databases
Ensembli | ENST00000245957; ENSP00000245957; ENSG00000089101 [Q8NHU2-1] ENST00000377293; ENSP00000366508; ENSG00000089101 [Q8NHU2-5] ENST00000377306; ENSP00000366521; ENSG00000089101 [Q8NHU2-3] ENST00000377308; ENSP00000366523; ENSG00000089101 [Q8NHU2-6] ENST00000389656; ENSP00000374307; ENSG00000089101 [Q8NHU2-5] ENST00000451767; ENSP00000414537; ENSG00000089101 [Q8NHU2-3] |
GeneIDi | 26074 |
KEGGi | hsa:26074 |
UCSCi | uc002wru.4, human [Q8NHU2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK057364 mRNA Translation: BAB71452.1 AL117439 mRNA Translation: CAB55925.1 AL035454 Genomic DNA No translation available. AL049648 Genomic DNA No translation available. AL121721 Genomic DNA No translation available. AL161658 Genomic DNA No translation available. BC028708 mRNA Translation: AAH28708.2 BC031674 mRNA Translation: AAH31674.1 |
CCDSi | CCDS33447.1 [Q8NHU2-1] CCDS54452.1 [Q8NHU2-3] |
RefSeqi | NP_001161288.1, NM_001167816.1 [Q8NHU2-3] NP_056400.3, NM_015585.3 [Q8NHU2-1] XP_005260746.1, XM_005260689.2 [Q8NHU2-1] XP_011527515.1, XM_011529213.1 [Q8NHU2-3] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
IntActi | Q8NHU2, 1 interactor |
MINTi | Q8NHU2 |
STRINGi | 9606.ENSP00000245957 |
PTM databases
iPTMneti | Q8NHU2 |
PhosphoSitePlusi | Q8NHU2 |
Genetic variation databases
BioMutai | CFAP61 |
DMDMi | 116241319 |
Proteomic databases
MassIVEi | Q8NHU2 |
PaxDbi | Q8NHU2 |
PeptideAtlasi | Q8NHU2 |
PRIDEi | Q8NHU2 |
ProteomicsDBi | 73753 [Q8NHU2-1] 73754 [Q8NHU2-3] 73755 [Q8NHU2-4] 73756 [Q8NHU2-5] 73757 [Q8NHU2-6] |
Protocols and materials databases
Antibodypediai | 2276, 63 antibodies |
Genome annotation databases
Ensembli | ENST00000245957; ENSP00000245957; ENSG00000089101 [Q8NHU2-1] ENST00000377293; ENSP00000366508; ENSG00000089101 [Q8NHU2-5] ENST00000377306; ENSP00000366521; ENSG00000089101 [Q8NHU2-3] ENST00000377308; ENSP00000366523; ENSG00000089101 [Q8NHU2-6] ENST00000389656; ENSP00000374307; ENSG00000089101 [Q8NHU2-5] ENST00000451767; ENSP00000414537; ENSG00000089101 [Q8NHU2-3] |
GeneIDi | 26074 |
KEGGi | hsa:26074 |
UCSCi | uc002wru.4, human [Q8NHU2-1] |
Organism-specific databases
CTDi | 26074 |
DisGeNETi | 26074 |
GeneCardsi | CFAP61 |
HGNCi | HGNC:15872, CFAP61 |
HPAi | ENSG00000089101, Tissue enhanced (fallopian tube, heart muscle, pituitary gland, skeletal muscle, testis) |
neXtProti | NX_Q8NHU2 |
OpenTargetsi | ENSG00000089101 |
PharmGKBi | PA25741 |
VEuPathDBi | HostDB:ENSG00000089101.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QSEC, Eukaryota |
GeneTreei | ENSGT00390000004987 |
HOGENOMi | CLU_037088_0_0_1 |
InParanoidi | Q8NHU2 |
OMAi | WTHSNFN |
OrthoDBi | 38948at2759 |
PhylomeDBi | Q8NHU2 |
TreeFami | TF323897 |
Enzyme and pathway databases
PathwayCommonsi | Q8NHU2 |
Miscellaneous databases
BioGRID-ORCSi | 26074, 1 hit in 866 CRISPR screens |
ChiTaRSi | CFAP61, human |
GenomeRNAii | 26074 |
Pharosi | Q8NHU2, Tdark |
PROi | PR:Q8NHU2 |
RNActi | Q8NHU2, protein |
Gene expression databases
Bgeei | ENSG00000089101, Expressed in skeletal muscle tissue and 121 other tissues |
ExpressionAtlasi | Q8NHU2, baseline and differential |
Genevisiblei | Q8NHU2, HS |
Family and domain databases
Gene3Di | 3.50.50.60, 2 hits |
InterProi | View protein in InterPro IPR038884, CFAP61 IPR032151, CFAP61_N IPR036188, FAD/NAD-bd_sf |
PANTHERi | PTHR21178, PTHR21178, 1 hit |
Pfami | View protein in Pfam PF16092, DUF4821, 1 hit |
SUPFAMi | SSF51905, SSF51905, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CFA61_HUMAN | |
Accessioni | Q8NHU2Primary (citable) accession number: Q8NHU2 Secondary accession number(s): A6NHA1 Q9Y4V7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 28, 2003 |
Last sequence update: | October 17, 2006 | |
Last modified: | February 10, 2021 | |
This is version 137 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 chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports