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Protein

Cilia- and flagella-associated protein 61

Gene

CFAP61

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 61Imported
Gene namesi
Name:CFAP61Imported
Synonyms:C20orf26Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15872. CFAP61.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25741.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12371237Cilia- and flagella-associated protein 61CuratedPRO_0000079417Add
BLAST

Proteomic databases

MaxQBiQ8NHU2.
PaxDbiQ8NHU2.
PRIDEiQ8NHU2.

PTM databases

PhosphoSiteiQ8NHU2.

Expressioni

Gene expression databases

BgeeiQ8NHU2.
CleanExiHS_C20orf26.
ExpressionAtlasiQ8NHU2. baseline and differential.
GenevestigatoriQ8NHU2.

Organism-specific databases

HPAiHPA009079.

Interactioni

Protein-protein interaction databases

BioGridi117532. 1 interaction.
IntActiQ8NHU2. 1 interaction.
MINTiMINT-7970708.

Structurei

3D structure databases

ProteinModelPortaliQ8NHU2.
SMRiQ8NHU2. Positions 837-867.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG72837.
GeneTreeiENSGT00390000004987.
HOVERGENiHBG081363.
InParanoidiQ8NHU2.
OMAiPQLHVRK.
OrthoDBiEOG7KSX7P.
PhylomeDBiQ8NHU2.
TreeFamiTF323897.

Family and domain databases

Gene3Di3.40.630.30. 1 hit.
InterProiIPR016181. Acyl_CoA_acyltransferase.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

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

Note: Experimental confirmation may be lacking for some isoforms.

Isoform 1 (identifier: Q8NHU2-1) [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
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
Length:1,237
Mass (Da):141,349
Last modified:October 16, 2006 - v3
Checksum:iF10E9802BFAC8956
GO
Isoform 3 (identifier: Q8NHU2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     463-470: SINIRFAT → NICLGRSS
     471-1237: Missing.

Show »
Length:470
Mass (Da):53,551
Checksum:i0DFF08A0D16B1034
GO
Isoform 4 (identifier: Q8NHU2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     343-402: Missing.

Show »
Length:1,177
Mass (Da):134,537
Checksum:iE5459E025C959DAE
GO
Isoform 5 (identifier: Q8NHU2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-644: Missing.
     835-844: GNIIVYGNTI → DGGRASVLFC
     845-1237: Missing.

Note: Created from a fragment entry and may await further characterization.

Show »
Length:200
Mass (Da):22,433
Checksum:i4C38A05D39B1979C
GO
Isoform 6 (identifier: Q8NHU2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-644: Missing.
     933-964: MFFSFCEKNVDYETFKALNDACLVYDSRLVID → GAFFLGLTIICILPSLPFQLPWRYKWHSLIMV
     965-1237: Missing.

Show »
Length:320
Mass (Da):35,610
Checksum:iCF8979E3AE27B7B5
GO

Sequence cautioni

The sequence CAI42114.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti650 – 6501N → S in AAH31674 (PubMed:15489334).Curated
Isoform 6 (identifier: Q8NHU2-6)
Sequence conflicti123 – 1231L → P in BAB71452 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741P → R.1 Publication
Corresponds to variant rs17852602 [ dbSNP | Ensembl ].
VAR_027981
Natural varianti254 – 2541H → R.
Corresponds to variant rs6075614 [ dbSNP | Ensembl ].
VAR_027982
Natural varianti369 – 3691V → I.1 Publication
Corresponds to variant rs6081901 [ dbSNP | Ensembl ].
VAR_027983
Natural varianti371 – 3711P → L.
Corresponds to variant rs6075628 [ dbSNP | Ensembl ].
VAR_027984
Natural varianti505 – 5051D → E.
Corresponds to variant rs7344530 [ dbSNP | Ensembl ].
VAR_027985
Natural varianti660 – 6601P → L.
Corresponds to variant rs6081930 [ dbSNP | Ensembl ].
VAR_027986
Natural varianti671 – 6711V → I.
Corresponds to variant rs6046740 [ dbSNP | Ensembl ].
VAR_027987
Natural varianti790 – 7901T → P.1 Publication
VAR_069396

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 644644Missing in isoform 5 and isoform 6. 2 PublicationsVSP_003802Add
BLAST
Alternative sequencei343 – 40260Missing in isoform 4. CuratedVSP_003798Add
BLAST
Alternative sequencei463 – 4708SINIRFAT → NICLGRSS in isoform 3. 1 PublicationVSP_003799
Alternative sequencei471 – 1237767Missing in isoform 3. 1 PublicationVSP_003800Add
BLAST
Alternative sequencei835 – 84410GNIIVYGNTI → DGGRASVLFC in isoform 5. 1 PublicationVSP_003803
Alternative sequencei845 – 1237393Missing in isoform 5. 1 PublicationVSP_003804Add
BLAST
Alternative sequencei933 – 96432MFFSF…RLVID → GAFFLGLTIICILPSLPFQL PWRYKWHSLIMV in isoform 6. 1 PublicationVSP_013682Add
BLAST
Alternative sequencei965 – 1237273Missing in isoform 6. 1 PublicationVSP_013683Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057364 mRNA. Translation: BAB71452.1.
AL117439 mRNA. Translation: CAB55925.1.
AL121721
, AL035454, AL049648, AL161658 Genomic DNA. Translation: CAI19156.1.
AL121721, AL049648 Genomic DNA. Translation: CAI19157.1.
AL049648, AL121721 Genomic DNA. Translation: CAI42254.1.
AL035454
, AL049648, AL121721, AL161658 Genomic DNA. Translation: CAI42114.1. Sequence problems.
AL049648
, AL035454, AL121721, AL161658 Genomic DNA. Translation: CAI42250.1.
AL161658
, AL035454, AL049648, AL121721 Genomic DNA. Translation: CAI40813.1.
BC028708 mRNA. Translation: AAH28708.2.
BC031674 mRNA. Translation: AAH31674.1.
CCDSiCCDS33447.1. [Q8NHU2-1]
CCDS54452.1. [Q8NHU2-3]
RefSeqiNP_001161288.1. NM_001167816.1. [Q8NHU2-3]
NP_056400.3. NM_015585.3. [Q8NHU2-1]
XP_005260746.1. XM_005260689.2. [Q8NHU2-1]
UniGeneiHs.729168.

Genome annotation databases

EnsembliENST00000245957; 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]
GeneIDi26074.
KEGGihsa:26074.
UCSCiuc002wru.3. human. [Q8NHU2-1]
uc002wrv.3. human. [Q8NHU2-5]
uc010gcw.2. human. [Q8NHU2-3]

Polymorphism databases

DMDMi116241319.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057364 mRNA. Translation: BAB71452.1.
AL117439 mRNA. Translation: CAB55925.1.
AL121721
, AL035454, AL049648, AL161658 Genomic DNA. Translation: CAI19156.1.
AL121721, AL049648 Genomic DNA. Translation: CAI19157.1.
AL049648, AL121721 Genomic DNA. Translation: CAI42254.1.
AL035454
, AL049648, AL121721, AL161658 Genomic DNA. Translation: CAI42114.1. Sequence problems.
AL049648
, AL035454, AL121721, AL161658 Genomic DNA. Translation: CAI42250.1.
AL161658
, AL035454, AL049648, AL121721 Genomic DNA. Translation: CAI40813.1.
BC028708 mRNA. Translation: AAH28708.2.
BC031674 mRNA. Translation: AAH31674.1.
CCDSiCCDS33447.1. [Q8NHU2-1]
CCDS54452.1. [Q8NHU2-3]
RefSeqiNP_001161288.1. NM_001167816.1. [Q8NHU2-3]
NP_056400.3. NM_015585.3. [Q8NHU2-1]
XP_005260746.1. XM_005260689.2. [Q8NHU2-1]
UniGeneiHs.729168.

3D structure databases

ProteinModelPortaliQ8NHU2.
SMRiQ8NHU2. Positions 837-867.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117532. 1 interaction.
IntActiQ8NHU2. 1 interaction.
MINTiMINT-7970708.

PTM databases

PhosphoSiteiQ8NHU2.

Polymorphism databases

DMDMi116241319.

Proteomic databases

MaxQBiQ8NHU2.
PaxDbiQ8NHU2.
PRIDEiQ8NHU2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000245957; 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]
GeneIDi26074.
KEGGihsa:26074.
UCSCiuc002wru.3. human. [Q8NHU2-1]
uc002wrv.3. human. [Q8NHU2-5]
uc010gcw.2. human. [Q8NHU2-3]

Organism-specific databases

CTDi26074.
GeneCardsiGC20P020033.
H-InvDBHIX0015679.
HGNCiHGNC:15872. CFAP61.
HPAiHPA009079.
neXtProtiNX_Q8NHU2.
PharmGKBiPA25741.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG72837.
GeneTreeiENSGT00390000004987.
HOVERGENiHBG081363.
InParanoidiQ8NHU2.
OMAiPQLHVRK.
OrthoDBiEOG7KSX7P.
PhylomeDBiQ8NHU2.
TreeFamiTF323897.

Miscellaneous databases

ChiTaRSiC20orf26. human.
GenomeRNAii26074.
NextBioi47987.

Gene expression databases

BgeeiQ8NHU2.
CleanExiHS_C20orf26.
ExpressionAtlasiQ8NHU2. baseline and differential.
GenevestigatoriQ8NHU2.

Family and domain databases

Gene3Di3.40.630.30. 1 hit.
InterProiIPR016181. Acyl_CoA_acyltransferase.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
    Tissue: Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Testis.
  3. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2000) [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(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), VARIANTS ARG-74 AND ILE-369.
    Tissue: Brain and Testis.
  5. Cited for: NUCLEOTIDE SEQUENCE OF 287-409 (ISOFORM 4).
  6. Cited for: VARIANT PRO-790.

Entry informationi

Entry nameiCFA61_HUMAN
AccessioniPrimary (citable) accession number: Q8NHU2
Secondary accession number(s): A6NHA1
, Q5JXV4, Q5TE18, Q8N5R9, Q96M59, Q9BQL2, Q9H127, Q9H128, Q9NQH4, Q9UFV8, Q9Y4V7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 27, 2003
Last sequence update: October 16, 2006
Last modified: January 6, 2015
This is version 97 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 20
    Human chromosome 20: 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

External Data

Dasty 3

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 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.