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Q68DK2 (ZFY26_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger FYVE domain-containing protein 26
Alternative name(s):
FYVE domain-containing centrosomal protein
Short name=FYVE-CENT
Spastizin
Gene names
Name:ZFYVE26
Synonyms:KIAA0321
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2539 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair. Ref.11 Ref.12

Subunit structure

Interacts with AP5Z1, AP5B1, AP5S1 and SPG11. Interacts with TTC19 and KIF13A. Ref.11 Ref.12

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Midbody. Note: Localizes to the centrosome during all stages of the cell cycle. Recruited to the midbody during cytokinesis by KIF13A. Ref.11

Tissue specificity

Strongest expression in the adrenal gland, bone marrow, adult brain, fetal brain, lung, placenta, prostate, skeletal muscle, testis, thymus, and retina. Intermediate levels are detected in other structures, including the spinal cord. Ref.7

Domain

The FYVE-type zinc finger mediates binding to phosphatidylinositol 3-phosphate and recruitment to the midbody during cytokinesis. Ref.11

Involvement in disease

Spastic paraplegia 15, autosomal recessive (SPG15) [MIM:270700]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG15 is a complex form associated with additional neurological symptoms such as cognitive deterioration or mental retardation, axonal neuropathy, mild cerebellar signs, and, less frequently, a central hearing deficit, decreased visual acuity, or retinal degeneration.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.9 Ref.10

Sequence similarities

Contains 1 FYVE-type zinc finger.

Sequence caution

The sequence BAG11658.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence CAD97882.1 differs from that shown. Reason: Erroneous termination at position 1463. Translated as Gln.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q68DK2-1)

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.
Isoform 2 (identifier: Q68DK2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     203-223: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q68DK2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     778-791: DGRDRGSNPSLEST → GNLKSSFPCTRQVV
     792-2539: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q68DK2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1809: Missing.
     1810-1828: VPDETESICMVCCREHFTM → MAISPSLLPLSSPPDGIPQ
     2473-2539: VRAYLICCKL...RGAHGPGSRK → IVPILAALRDRVHTEERGRSPSTLC
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 25392539Zinc finger FYVE domain-containing protein 26
PRO_0000314612

Regions

Zinc finger1812 – 187261FYVE-type
Coiled coil868 – 89528 Potential

Natural variations

Alternative sequence1 – 18091809Missing in isoform 3.
VSP_030338
Alternative sequence203 – 22321Missing in isoform 2.
VSP_030339
Alternative sequence778 – 79114DGRDR…SLEST → GNLKSSFPCTRQVV in isoform 4.
VSP_041049
Alternative sequence792 – 25391748Missing in isoform 4.
VSP_041050
Alternative sequence1810 – 182819VPDET…EHFTM → MAISPSLLPLSSPPDGIPQ in isoform 3.
VSP_030340
Alternative sequence2473 – 253967VRAYL…PGSRK → IVPILAALRDRVHTEERGRS PSTLC in isoform 3.
VSP_030341
Natural variant4291K → E.
Corresponds to variant rs34059852 [ dbSNP | Ensembl ].
VAR_037987
Natural variant8981T → S.
Corresponds to variant rs17192170 [ dbSNP | Ensembl ].
VAR_037988
Natural variant9511T → M.
Corresponds to variant rs35471427 [ dbSNP | Ensembl ].
VAR_037989
Natural variant10711S → N.
Corresponds to variant rs7156206 [ dbSNP | Ensembl ].
VAR_037990
Natural variant11031P → L. Ref.3
Corresponds to variant rs3742885 [ dbSNP | Ensembl ].
VAR_037991
Natural variant11221A → V.
Corresponds to variant rs3742884 [ dbSNP | Ensembl ].
VAR_037992
Natural variant11641A → E in a breast cancer sample; somatic mutation. Ref.13
VAR_037993
Natural variant14571C → Y. Ref.1 Ref.3
Corresponds to variant rs2235967 [ dbSNP | Ensembl ].
VAR_037994
Natural variant18911S → N. Ref.1 Ref.3
Corresponds to variant rs3742883 [ dbSNP | Ensembl ].
VAR_037995
Natural variant19451R → Q in a breast cancer sample; somatic mutation. Ref.13
VAR_037996
Natural variant24111R → H.
Corresponds to variant rs34373049 [ dbSNP | Ensembl ].
VAR_037997

Experimental info

Mutagenesis18361R → A: Abolishes phosphatidylinositol 3-phosphate-binding and localization to the midbody. Ref.11
Sequence conflict2431L → P in CAD97882. Ref.3
Sequence conflict5561L → P in BAG11658. Ref.1
Sequence conflict5861S → P in CAH18131. Ref.3
Sequence conflict6291K → E in CAH18131. Ref.3
Sequence conflict9461D → G in CAH18218. Ref.3
Sequence conflict10401S → T in BAG11658. Ref.1
Sequence conflict11151A → T in CAH18131. Ref.3
Sequence conflict13201C → S in CAH18218. Ref.3
Sequence conflict13581R → H in CAH18131. Ref.3
Sequence conflict15561E → V in CAH18131. Ref.3
Sequence conflict15971A → T in CAH10379. Ref.3
Sequence conflict16151E → K in CAH10379. Ref.3
Sequence conflict16701S → N in CAH18218. Ref.3
Sequence conflict17271K → R in CAH10379. Ref.3
Sequence conflict17741G → D in CAD97882. Ref.3
Sequence conflict22461Q → L in CAH18131. Ref.3
Sequence conflict22881K → R in CAD97882. Ref.3
Sequence conflict24341M → L in AAH33235. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 991862A89C8581F1

FASTA2,539284,576
        10         20         30         40         50         60 
MNHPFGKEEA ASQKQLFGFF CECLRRGEWE LAQACVPQLQ EGQGDIPKRV EDILQALVVC 

        70         80         90        100        110        120 
PNLLRCGQDI NPQRVAWVWL LVLEKWLARE KKLLPVVFRR KLEFLLLSED LQGDIPENIL 

       130        140        150        160        170        180 
EELYETLTQG AVGHVPDGNP RRESWTPRLS SEAVSVLWDL LRQSPQPAQA LLELLLEEDD 

       190        200        210        220        230        240 
GTGLCHWPLQ NALVDLIRKA LRALQGPDSV PPGVVDAIYG ALRTLRCPAE PLGVELHLLC 

       250        260        270        280        290        300 
EELLEACRTE GSPLREERLL SCLLHKASRG LLSLYGHTYA EKVTEKPPRA TASGKVSPDH 

       310        320        330        340        350        360 
LDPERAMLAL FSNPNPAEAW KVAYFYCLSN NKHFLEQILV TALTLLKEED FPNLGCLLDR 

       370        380        390        400        410        420 
EFRPLSCLLV LLGWTHCQSL ESAKRLLQTL HRTQGPGCDE LLRDACDGLW AHLEVLEWCI 

       430        440        450        460        470        480 
QQSSNPIPKR DLLYHLHGGD SHSVLYTLHH LTNLPALREE DVLKLLQKVP AKDPQQEPDA 

       490        500        510        520        530        540 
VDAPVPEHLS QCQNLTLYQG FCAMKYAIYA LCVNSHQHSQ CQDCKDSLSE DLASATEPAN 

       550        560        570        580        590        600 
DSLSSPGAAN LFSTYLARCQ QYLCSIPDSL CLELLENIFS LLLITSADLH PEPHLPEDYA 

       610        620        630        640        650        660 
EDDDIEGKSP SGLRSPSESP QHIAHPERKS ERGSLGVPKT LAYTMPSHVK AEPKDSYPGP 

       670        680        690        700        710        720 
HRHSFLDLKH FTSGISGFLA DEFAIGAFLR LLQEQLDEIS SRSPPEKPKQ ESQSCSGSRD 

       730        740        750        760        770        780 
GLQSRLHRLS KVVSEAQWRH KVVTSNHRSE EQPSRRYQPA TRHPSLRRGR RTRRSQADGR 

       790        800        810        820        830        840 
DRGSNPSLES TSSELSTSTS EGSLSAMSGR NELHSRLHPH PQSSLIPMMF SPPESLLASC 

       850        860        870        880        890        900 
ILRGNFAEAH QVLFTFNLKS SPSSGELMFM ERYQEVIQEL AQVEHKIENQ NSDAGSSTIR 

       910        920        930        940        950        960 
RTGSGRSTLQ AIGSAAAAGM VFYSISDVTD KLLNTSGDPI PMLQEDFWIS TALVEPTAPL 

       970        980        990       1000       1010       1020 
REVLEDLSPP AMAAFDLACS QCQLWKTCKQ LLETAERRLN SSLERRGRRI DHVLLNADGI 

      1030       1040       1050       1060       1070       1080 
RGFPVVLQQI SKSLNYLLMS ASQTKSESVE EKGGGPPRCS ITELLQMCWP SLSEDCVASH 

      1090       1100       1110       1120       1130       1140 
TTLSQQLDQV LQSLREALEL PEPRTPPLSS LVEQAAQKAP EAEAHPVQIQ TQLLQKNLGK 

      1150       1160       1170       1180       1190       1200 
QTPSGSRQMD YLGTFFSYCS TLAAVLLQSL SSEPDHVEVK VGNPFVLLQQ SSSQLVSHLL 

      1210       1220       1230       1240       1250       1260 
FERQVPPERL AALLAQENLS LSVPQVIVSC CCEPLALCSS RQSQQTSSLL TRLGTLAQLH 

      1270       1280       1290       1300       1310       1320 
ASHCLDDLPL STPSSPRTTE NPTLERKPYS SPRDSSLPAL TSSALAFLKS RSKLLATVAC 

      1330       1340       1350       1360       1370       1380 
LGASPRLKVS KPSLSWKELR GRREVPLAAE QVARECERLL EQFPLFEAFL LAAWEPLRGS 

      1390       1400       1410       1420       1430       1440 
LQQGQSLAVN LCGWASLSTV LLGLHSPIAL DVLSEAFEES LVARDWSRAL QLTEVYGRDV 

      1450       1460       1470       1480       1490       1500 
DDLSSIKDAV LSCAVACDKE GWQYLFPVKD ASLRSRLALQ FVDRWPLESC LEILAYCISD 

      1510       1520       1530       1540       1550       1560 
TAVQEGLKCE LQRKLAELQV YQKILGLQSP PVWCDWQTLR SCCVEDPSTV MNMILEAQEY 

      1570       1580       1590       1600       1610       1620 
ELCEEWGCLY PIPREHLISL HQKHLLHLLE RRDHDKALQL LRRIPDPTMC LEVTEQSLDQ 

      1630       1640       1650       1660       1670       1680 
HTSLATSHFL ANYLTTHFYG QLTAVRHREI QALYVGSKIL LTLPEQHRAS YSHLSSNPLF 

      1690       1700       1710       1720       1730       1740 
MLEQLLMNMK VDWATVAVQT LQQLLVGQEI GFTMDEVDSL LSRYAEKALD FPYPQREKRS 

      1750       1760       1770       1780       1790       1800 
DSVIHLQEIV HQAADPETLP RSPSAEFSPA APPGISSIHS PSLRERSFPP TQPSQEFVPP 

      1810       1820       1830       1840       1850       1860 
ATPPARHQWV PDETESICMV CCREHFTMFN RRHHCRRCGR LVCSSCSTKK MVVEGCRENP 

      1870       1880       1890       1900       1910       1920 
ARVCDQCYSY CNKDVPEEPS EKPEALDSSK SESPPYSFVV RVPKADEVEW ILDLKEEENE 

      1930       1940       1950       1960       1970       1980 
LVRSEFYYEQ APSASLCIAI LNLHRDSIAC GHQLIEHCCR LSKGLTNPEV DAGLLTDIMK 

      1990       2000       2010       2020       2030       2040 
QLLFSAKMMF VKAGQSQDLA LCDSYISKVD VLNILVAAAY RHVPSLDQIL QPAAVTRLRN 

      2050       2060       2070       2080       2090       2100 
QLLEAEYYQL GVEVSTKTGL DTTGAWHAWG MACLKAGNLT AAREKFSRCL KPPFDLNQLN 

      2110       2120       2130       2140       2150       2160 
HGSRLVQDVV EYLESTVRPF VSLQDDDYFA TLRELEATLR TQSLSLAVIP EGKIMNNTYY 

      2170       2180       2190       2200       2210       2220 
QECLFYLHNY STNLAIISFY VRHSCLREAL LHLLNKESPP EVFIEGIFQP SYKSGKLHTL 

      2230       2240       2250       2260       2270       2280 
ENLLESIDPT LESWGKYLIA ACQHLQKKNY YHILYELQQF MKDQVRAAMT CIRFFSHKAK 

      2290       2300       2310       2320       2330       2340 
SYTELGEKLS WLLKAKDHLK IYLQETSRSS GRKKTTFFRK KMTAADVSRH MNTLQLQMEV 

      2350       2360       2370       2380       2390       2400 
TRFLHRCESA GTSQITTLPL PTLFGNNHMK MDVACKVMLG GKNVEDGFGI AFRVLQDFQL 

      2410       2420       2430       2440       2450       2460 
DAAMTYCRAA RQLVEKEKYS EIQQLLKCVS ESGMAAKSDG DTILLNCLEA FKRIPPQELE 

      2470       2480       2490       2500       2510       2520 
GLIQAIHNDD NKVRAYLICC KLRSAYLIAV KQEHSRATAL VQQVQQAAKS SGDAVVQDIC 

      2530 
AQWLLTSHPR GAHGPGSRK 

« Hide

Isoform 2 [UniParc].

Checksum: 922EDB05E118C1DA
Show »

FASTA2,518282,499
Isoform 4 [UniParc].

Checksum: 380D3A84F74C1023
Show »

FASTA79188,820
Isoform 3 [UniParc].

Checksum: 2229E6E433962E5B
Show »

FASTA68877,970

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS TYR-1457 AND ASN-1891.
Tissue: Brain.
[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. expand/collapse author list , 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 3 AND 4).
Tissue: Trachea.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS LEU-1103; TYR-1457 AND ASN-1891.
Tissue: Cervix, Endometrial adenocarcinoma and Fetal kidney.
[4]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] OF 2057-2539.
Tissue: Brain.
[7]"Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome."
Hanein S., Martin E., Boukhris A., Byrne P., Goizet C., Hamri A., Benomar A., Lossos A., Denora P., Fernandez J., Elleuch N., Forlani S., Durr A., Feki I., Hutchinson M., Santorelli F.M., Mhiri C., Brice A., Stevanin G.
Am. J. Hum. Genet. 82:992-1002(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SPG15, TISSUE SPECIFICITY.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population."
Denora P.S., Muglia M., Casali C., Truchetto J., Silvestri G., Messina D., Boukrhis A., Magariello A., Modoni A., Masciullo M., Malandrini A., Morelli M., de Leva M.F., Villanova M., Giugni E., Citrigno L., Rizza T., Federico A. expand/collapse author list , Pierallini A., Quattrone A., Filla A., Brice A., Stevanin G., Santorelli F.M.
J. Neurol. Sci. 277:22-25(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SPG15.
[10]"SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum."
Goizet C., Boukhris A., Maltete D., Guyant-Marechal L., Truchetto J., Mundwiller E., Hanein S., Jonveaux P., Roelens F., Loureiro J., Godet E., Forlani S., Melki J., Auer-Grumbach M., Fernandez J.C., Martin-Hardy P., Sibon I., Sole G. expand/collapse author list , Orignac I., Mhiri C., Coutinho P., Durr A., Brice A., Stevanin G.
Neurology 73:1111-1119(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SPG15.
[11]"PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody."
Sagona A.P., Nezis I.P., Pedersen N.M., Liestol K., Poulton J., Rusten T.E., Skotheim R.I., Raiborg C., Stenmark H.
Nat. Cell Biol. 12:362-371(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, PHOSPHATIDYLINOSITOL 3-PHOSPHATE-BINDING, DOMAIN FYVE-TYPE ZINC-FINGER, INTERACTION WITH TTC19 AND KIF13A, MUTAGENESIS OF ARG-1836.
[12]"A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia."
Slabicki M., Theis M., Krastev D.B., Samsonov S., Mundwiller E., Junqueira M., Paszkowski-Rogacz M., Teyra J., Heninger A.K., Poser I., Prieur F., Truchetto J., Confavreux C., Marelli C., Durr A., Camdessanche J.P., Brice A., Shevchenko A. expand/collapse author list , Pisabarro M.T., Stevanin G., Buchholz F.
PLoS Biol. 8:E1000408-E1000408(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: POSSIBLE FUNCTION, INTERACTION WITH AP5Z1; AP5B1; AP5S1 AND SPG11.
[13]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLU-1164 AND GLN-1945.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB002319 mRNA. Translation: BAA20779.1.
AB425197 mRNA. Translation: BAG11658.1. Different initiation.
AK304428 mRNA. Translation: BAG65255.1.
AK128496 mRNA. Translation: BAC87467.1.
BX537886 mRNA. Translation: CAD97882.1. Sequence problems.
BX538025 mRNA. Translation: CAD97971.1.
BX648683 mRNA. Translation: CAH10379.1.
CR749276 mRNA. Translation: CAH18131.1.
CR749365 mRNA. Translation: CAH18218.1.
AL049779 Genomic DNA. No translation available.
AL121595 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW80954.1.
BC033235 mRNA. Translation: AAH33235.2.
CCDSCCDS9788.1. [Q68DK2-1]
RefSeqNP_056161.2. NM_015346.3.
UniGeneHs.98041.

3D structure databases

ProteinModelPortalQ68DK2.
SMRQ68DK2. Positions 1809-1868.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117050. 2 interactions.
IntActQ68DK2. 2 interactions.
STRING9606.ENSP00000251119.

PTM databases

PhosphoSiteQ68DK2.

Polymorphism databases

DMDM296453077.

Proteomic databases

MaxQBQ68DK2.
PaxDbQ68DK2.
PRIDEQ68DK2.

Protocols and materials databases

DNASU23503.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000347230; ENSP00000251119; ENSG00000072121.
GeneID23503.
KEGGhsa:23503.
UCSCuc001xka.2. human. [Q68DK2-1]
uc010tta.2. human. [Q68DK2-4]

Organism-specific databases

CTD23503.
GeneCardsGC14M068194.
H-InvDBHIX0011757.
HGNCHGNC:20761. ZFYVE26.
HPAHPA055500.
MIM270700. phenotype.
612012. gene.
neXtProtNX_Q68DK2.
Orphanet100996. Autosomal recessive spastic paraplegia type 15.
PharmGKBPA134904455.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG247110.
HOVERGENHBG108766.
InParanoidQ68DK2.
OrthoDBEOG776SP2.
PhylomeDBQ68DK2.
TreeFamTF324517.

Gene expression databases

ArrayExpressQ68DK2.
BgeeQ68DK2.
CleanExHS_ZFYVE26.
GenevestigatorQ68DK2.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
InterProIPR028730. ZFYVE26.
IPR000306. Znf_FYVE.
IPR017455. Znf_FYVE-rel.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PANTHERPTHR22835:SF115. PTHR22835:SF115. 1 hit.
PfamPF01363. FYVE. 1 hit.
[Graphical view]
SMARTSM00064. FYVE. 1 hit.
[Graphical view]
SUPFAMSSF57903. SSF57903. 1 hit.
PROSITEPS50178. ZF_FYVE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSZFYVE26. human.
GenomeRNAi23503.
NextBio45881.
PROQ68DK2.
SOURCESearch...

Entry information

Entry nameZFY26_HUMAN
AccessionPrimary (citable) accession number: Q68DK2
Secondary accession number(s): B1B5Y3 expand/collapse secondary AC list , B4E2U3, O15035, Q68DT9, Q6AW90, Q6ZR50, Q7Z3A4, Q7Z3I1, Q8N4W7
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 90 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM