Q68DK2 (ZFY26_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2539 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton › centrosome. 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 autosomal recessive 15 (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.

Ontologies

Keywords
Biological process	Cell cycle Cell division DNA damage DNA repair
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Hereditary spastic paraplegia Neurodegeneration
Domain	Coiled coil Zinc-finger
Ligand	Lipid-binding Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell cycle Inferred from electronic annotation. Source: UniProtKB-KW cell death Inferred from electronic annotation. Source: UniProtKB-KW cytokinesis Inferred from mutant phenotype Ref.11. Source: UniProtKB double-strand break repair via homologous recombination Inferred from mutant phenotype Ref.12. Source: UniProtKB
Cellular_component	centrosome Inferred from direct assay Ref.11. Source: UniProtKB cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW midbody Inferred from direct assay Ref.11. Source: UniProtKB
Molecular_function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW phosphatidylinositol-3-phosphate binding Inferred from direct assay Ref.11. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2539	2539	Zinc finger FYVE domain-containing protein 26		PRO_0000314612
Regions
	Zinc finger	1812 – 1872	61	FYVE-type
	Coiled coil	868 – 895	28	Potential
Natural variations
	Alternative sequence	1 – 1809	1809	Missing in isoform 3.		VSP_030338
	Alternative sequence	203 – 223	21	Missing in isoform 2.		VSP_030339
	Alternative sequence	778 – 791	14	DGRDR…SLEST → GNLKSSFPCTRQVV in isoform 4.		VSP_041049
	Alternative sequence	792 – 2539	1748	Missing in isoform 4.		VSP_041050
	Alternative sequence	1810 – 1828	19	VPDET…EHFTM → MAISPSLLPLSSPPDGIPQ in isoform 3.		VSP_030340
	Alternative sequence	2473 – 2539	67	VRAYL…PGSRK → IVPILAALRDRVHTEERGRS PSTLC in isoform 3.		VSP_030341
	Natural variant	429	1	K → E. Corresponds to variant rs34059852 [ dbSNP | Ensembl ].		VAR_037987
	Natural variant	898	1	T → S. Corresponds to variant rs17192170 [ dbSNP | Ensembl ].		VAR_037988
	Natural variant	951	1	T → M. Corresponds to variant rs35471427 [ dbSNP | Ensembl ].		VAR_037989
	Natural variant	1071	1	S → N. Corresponds to variant rs7156206 [ dbSNP | Ensembl ].		VAR_037990
	Natural variant	1103	1	P → L. Ref.3 Corresponds to variant rs3742885 [ dbSNP | Ensembl ].		VAR_037991
	Natural variant	1122	1	A → V. Corresponds to variant rs3742884 [ dbSNP | Ensembl ].		VAR_037992
	Natural variant	1164	1	A → E in a breast cancer sample; somatic mutation. Ref.13		VAR_037993
	Natural variant	1457	1	C → Y. Ref.1 Ref.3 Corresponds to variant rs2235967 [ dbSNP | Ensembl ].		VAR_037994
	Natural variant	1891	1	S → N. Ref.1 Ref.3 Corresponds to variant rs3742883 [ dbSNP | Ensembl ].		VAR_037995
	Natural variant	1945	1	R → Q in a breast cancer sample; somatic mutation. Ref.13		VAR_037996
	Natural variant	2411	1	R → H. Corresponds to variant rs34373049 [ dbSNP | Ensembl ].		VAR_037997
Experimental info
	Mutagenesis	1836	1	R → A: Abolishes phosphatidylinositol 3-phosphate-binding and localization to the midbody. Ref.11
	Sequence conflict	243	1	L → P in CAD97882. Ref.3
	Sequence conflict	556	1	L → P in BAG11658. Ref.1
	Sequence conflict	586	1	S → P in CAH18131. Ref.3
	Sequence conflict	629	1	K → E in CAH18131. Ref.3
	Sequence conflict	946	1	D → G in CAH18218. Ref.3
	Sequence conflict	1040	1	S → T in BAG11658. Ref.1
	Sequence conflict	1115	1	A → T in CAH18131. Ref.3
	Sequence conflict	1320	1	C → S in CAH18218. Ref.3
	Sequence conflict	1358	1	R → H in CAH18131. Ref.3
	Sequence conflict	1556	1	E → V in CAH18131. Ref.3
	Sequence conflict	1597	1	A → T in CAH10379. Ref.3
	Sequence conflict	1615	1	E → K in CAH10379. Ref.3
	Sequence conflict	1670	1	S → N in CAH18218. Ref.3
	Sequence conflict	1727	1	K → R in CAH10379. Ref.3
	Sequence conflict	1774	1	G → D in CAD97882. Ref.3
	Sequence conflict	2246	1	Q → L in CAH18131. Ref.3
	Sequence conflict	2288	1	K → R in CAD97882. Ref.3
	Sequence conflict	2434	1	M → L in AAH33235. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 991862A89C8581F1	FASTA	2,539	284,576
	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
	Isoform 2 [UniParc]. Checksum: 922EDB05E118C1DA	FASTA	2,518	282,499
	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 LRTLRCPAEP LGVELHLLCE ELLEACRTEG SPLREERLLS 250 260 270 280 290 300 CLLHKASRGL LSLYGHTYAE KVTEKPPRAT ASGKVSPDHL DPERAMLALF SNPNPAEAWK 310 320 330 340 350 360 VAYFYCLSNN KHFLEQILVT ALTLLKEEDF PNLGCLLDRE FRPLSCLLVL LGWTHCQSLE 370 380 390 400 410 420 SAKRLLQTLH RTQGPGCDEL LRDACDGLWA HLEVLEWCIQ QSSNPIPKRD LLYHLHGGDS 430 440 450 460 470 480 HSVLYTLHHL TNLPALREED VLKLLQKVPA KDPQQEPDAV DAPVPEHLSQ CQNLTLYQGF 490 500 510 520 530 540 CAMKYAIYAL CVNSHQHSQC QDCKDSLSED LASATEPAND SLSSPGAANL FSTYLARCQQ 550 560 570 580 590 600 YLCSIPDSLC LELLENIFSL LLITSADLHP EPHLPEDYAE DDDIEGKSPS GLRSPSESPQ 610 620 630 640 650 660 HIAHPERKSE RGSLGVPKTL AYTMPSHVKA EPKDSYPGPH RHSFLDLKHF TSGISGFLAD 670 680 690 700 710 720 EFAIGAFLRL LQEQLDEISS RSPPEKPKQE SQSCSGSRDG LQSRLHRLSK VVSEAQWRHK 730 740 750 760 770 780 VVTSNHRSEE QPSRRYQPAT RHPSLRRGRR TRRSQADGRD RGSNPSLEST SSELSTSTSE 790 800 810 820 830 840 GSLSAMSGRN ELHSRLHPHP QSSLIPMMFS PPESLLASCI LRGNFAEAHQ VLFTFNLKSS 850 860 870 880 890 900 PSSGELMFME RYQEVIQELA QVEHKIENQN SDAGSSTIRR TGSGRSTLQA IGSAAAAGMV 910 920 930 940 950 960 FYSISDVTDK LLNTSGDPIP MLQEDFWIST ALVEPTAPLR EVLEDLSPPA MAAFDLACSQ 970 980 990 1000 1010 1020 CQLWKTCKQL LETAERRLNS SLERRGRRID HVLLNADGIR GFPVVLQQIS KSLNYLLMSA 1030 1040 1050 1060 1070 1080 SQTKSESVEE KGGGPPRCSI TELLQMCWPS LSEDCVASHT TLSQQLDQVL QSLREALELP 1090 1100 1110 1120 1130 1140 EPRTPPLSSL VEQAAQKAPE AEAHPVQIQT QLLQKNLGKQ TPSGSRQMDY LGTFFSYCST 1150 1160 1170 1180 1190 1200 LAAVLLQSLS SEPDHVEVKV GNPFVLLQQS SSQLVSHLLF ERQVPPERLA ALLAQENLSL 1210 1220 1230 1240 1250 1260 SVPQVIVSCC CEPLALCSSR QSQQTSSLLT RLGTLAQLHA SHCLDDLPLS TPSSPRTTEN 1270 1280 1290 1300 1310 1320 PTLERKPYSS PRDSSLPALT SSALAFLKSR SKLLATVACL GASPRLKVSK PSLSWKELRG 1330 1340 1350 1360 1370 1380 RREVPLAAEQ VARECERLLE QFPLFEAFLL AAWEPLRGSL QQGQSLAVNL CGWASLSTVL 1390 1400 1410 1420 1430 1440 LGLHSPIALD VLSEAFEESL VARDWSRALQ LTEVYGRDVD DLSSIKDAVL SCAVACDKEG 1450 1460 1470 1480 1490 1500 WQYLFPVKDA SLRSRLALQF VDRWPLESCL EILAYCISDT AVQEGLKCEL QRKLAELQVY 1510 1520 1530 1540 1550 1560 QKILGLQSPP VWCDWQTLRS CCVEDPSTVM NMILEAQEYE LCEEWGCLYP IPREHLISLH 1570 1580 1590 1600 1610 1620 QKHLLHLLER RDHDKALQLL RRIPDPTMCL EVTEQSLDQH TSLATSHFLA NYLTTHFYGQ 1630 1640 1650 1660 1670 1680 LTAVRHREIQ ALYVGSKILL TLPEQHRASY SHLSSNPLFM LEQLLMNMKV DWATVAVQTL 1690 1700 1710 1720 1730 1740 QQLLVGQEIG FTMDEVDSLL SRYAEKALDF PYPQREKRSD SVIHLQEIVH QAADPETLPR 1750 1760 1770 1780 1790 1800 SPSAEFSPAA PPGISSIHSP SLRERSFPPT QPSQEFVPPA TPPARHQWVP DETESICMVC 1810 1820 1830 1840 1850 1860 CREHFTMFNR RHHCRRCGRL VCSSCSTKKM VVEGCRENPA RVCDQCYSYC NKDVPEEPSE 1870 1880 1890 1900 1910 1920 KPEALDSSKS ESPPYSFVVR VPKADEVEWI LDLKEEENEL VRSEFYYEQA PSASLCIAIL 1930 1940 1950 1960 1970 1980 NLHRDSIACG HQLIEHCCRL SKGLTNPEVD AGLLTDIMKQ LLFSAKMMFV KAGQSQDLAL 1990 2000 2010 2020 2030 2040 CDSYISKVDV LNILVAAAYR HVPSLDQILQ PAAVTRLRNQ LLEAEYYQLG VEVSTKTGLD 2050 2060 2070 2080 2090 2100 TTGAWHAWGM ACLKAGNLTA AREKFSRCLK PPFDLNQLNH GSRLVQDVVE YLESTVRPFV 2110 2120 2130 2140 2150 2160 SLQDDDYFAT LRELEATLRT QSLSLAVIPE GKIMNNTYYQ ECLFYLHNYS TNLAIISFYV 2170 2180 2190 2200 2210 2220 RHSCLREALL HLLNKESPPE VFIEGIFQPS YKSGKLHTLE NLLESIDPTL ESWGKYLIAA 2230 2240 2250 2260 2270 2280 CQHLQKKNYY HILYELQQFM KDQVRAAMTC IRFFSHKAKS YTELGEKLSW LLKAKDHLKI 2290 2300 2310 2320 2330 2340 YLQETSRSSG RKKTTFFRKK MTAADVSRHM NTLQLQMEVT RFLHRCESAG TSQITTLPLP 2350 2360 2370 2380 2390 2400 TLFGNNHMKM DVACKVMLGG KNVEDGFGIA FRVLQDFQLD AAMTYCRAAR QLVEKEKYSE 2410 2420 2430 2440 2450 2460 IQQLLKCVSE SGMAAKSDGD TILLNCLEAF KRIPPQELEG LIQAIHNDDN KVRAYLICCK 2470 2480 2490 2500 2510 LRSAYLIAVK QEHSRATALV QQVQQAAKSS GDAVVQDICA QWLLTSHPRG AHGPGSRK
	Isoform 4 [UniParc]. Checksum: 380D3A84F74C1023	FASTA	791	88,820
	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 RTRRSQAGNL 790 KSSFPCTRQV V
	Isoform 3 [UniParc]. Checksum: 2229E6E433962E5B	FASTA	688	77,970
	10 20 30 40 50 60 MAISPSLLPL SSPPDGIPQF NRRHHCRRCG RLVCSSCSTK KMVVEGCREN PARVCDQCYS 70 80 90 100 110 120 YCNKDVPEEP SEKPEALDSS KSESPPYSFV VRVPKADEVE WILDLKEEEN ELVRSEFYYE 130 140 150 160 170 180 QAPSASLCIA ILNLHRDSIA CGHQLIEHCC RLSKGLTNPE VDAGLLTDIM KQLLFSAKMM 190 200 210 220 230 240 FVKAGQSQDL ALCDSYISKV DVLNILVAAA YRHVPSLDQI LQPAAVTRLR NQLLEAEYYQ 250 260 270 280 290 300 LGVEVSTKTG LDTTGAWHAW GMACLKAGNL TAAREKFSRC LKPPFDLNQL NHGSRLVQDV 310 320 330 340 350 360 VEYLESTVRP FVSLQDDDYF ATLRELEATL RTQSLSLAVI PEGKIMNNTY YQECLFYLHN 370 380 390 400 410 420 YSTNLAIISF YVRHSCLREA LLHLLNKESP PEVFIEGIFQ PSYKSGKLHT LENLLESIDP 430 440 450 460 470 480 TLESWGKYLI AACQHLQKKN YYHILYELQQ FMKDQVRAAM TCIRFFSHKA KSYTELGEKL 490 500 510 520 530 540 SWLLKAKDHL KIYLQETSRS SGRKKTTFFR KKMTAADVSR HMNTLQLQME VTRFLHRCES 550 560 570 580 590 600 AGTSQITTLP LPTLFGNNHM KMDVACKVML GGKNVEDGFG IAFRVLQDFQ LDAAMTYCRA 610 620 630 640 650 660 ARQLVEKEKY SEIQQLLKCV SESGMAAKSD GDTILLNCLE AFKRIPPQEL EGLIQAIHND 670 680 DNKIVPILAA LRDRVHTEER GRSPSTLC

References

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[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. , 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. , 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. , 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. , 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. , 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. , 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. , 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.
IPI	IPI00470896. IPI00796956. IPI00879253. IPI01010491.
RefSeq	NP_056161.2. NM_015346.3.
UniGene	Hs.98041.
3D structure databases
HSSP	HSSP built from PDB template 1HYJ based on UniProtKB Q15075.
ProteinModelPortal	Q68DK2.
SMR	Q68DK2. Positions 1809-1868.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000251119.
PTM databases
PhosphoSite	Q68DK2.
Polymorphism databases
DMDM	296453077.
Proteomic databases
PaxDb	Q68DK2.
PRIDE	Q68DK2.
Protocols and materials databases
DNASU	23503.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000347230; ENSP00000251119; ENSG00000072121.
GeneID	23503.
KEGG	hsa:23503.
UCSC	uc001xka.2. human. uc010tta.2. human.
Organism-specific databases
CTD	23503.
GeneCards	GC14M068194.
H-InvDB	HIX0011757.
HGNC	HGNC:20761. ZFYVE26.
MIM	270700. phenotype. 612012. gene.
neXtProt	NX_Q68DK2.
Orphanet	100996. Autosomal recessive spastic paraplegia type 15.
PharmGKB	PA134904455.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG247110.
HOVERGEN	HBG108766.
InParanoid	Q68DK2.
Gene expression databases
ArrayExpress	Q68DK2.
Bgee	Q68DK2.
CleanEx	HS_ZFYVE26.
Genevestigator	Q68DK2.
Family and domain databases
Gene3D	3.30.40.10. 1 hit.
InterPro	IPR000306. Znf_FYVE. IPR017455. Znf_FYVE-rel. IPR011011. Znf_FYVE_PHD. IPR013083. Znf_RING/FYVE/PHD. [Graphical view]
Pfam	PF01363. FYVE. 1 hit. [Graphical view]
SMART	SM00064. FYVE. 1 hit. [Graphical view]
SUPFAM	SSF57903. FYVE_PHD_ZnF. 1 hit.
PROSITE	PS50178. ZF_FYVE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ZFYVE26. human.
GenomeRNAi	23503.
NextBio	45881.
SOURCE	Search...

Entry information

Entry name

ZFY26_HUMAN

Accession

Primary (citable) accession number: Q68DK2
Secondary accession number(s): B1B5Y3 , 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:	May 1, 2013
This is version 77 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.