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Q68DK2

- ZFY26_HUMAN

UniProt

Q68DK2 - ZFY26_HUMAN

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Protein
Zinc finger FYVE domain-containing protein 26
Gene
ZFYVE26, KIAA0321
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri1812 – 187261FYVE-type
Add
BLAST

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. phosphatidylinositol-3-phosphate binding Source: UniProtKB
  3. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. cytokinesis Source: UniProtKB
  3. double-strand break repair via homologous recombination Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division, DNA damage, DNA repair

Keywords - Ligandi

Lipid-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger FYVE domain-containing protein 26
Alternative name(s):
FYVE domain-containing centrosomal protein
Short name:
FYVE-CENT
Spastizin
Gene namesi
Name:ZFYVE26
Synonyms:KIAA0321
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:20761. ZFYVE26.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Midbody
Note: Localizes to the centrosome during all stages of the cell cycle. Recruited to the midbody during cytokinesis by KIF13A.1 Publication

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. lysosomal membrane Source: UniProtKB
  3. midbody Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.3 Publications

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi1836 – 18361R → A: Abolishes phosphatidylinositol 3-phosphate-binding and localization to the midbody. 1 Publication

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MIMi270700. phenotype.
Orphaneti100996. Autosomal recessive spastic paraplegia type 15.
PharmGKBiPA134904455.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 25392539Zinc finger FYVE domain-containing protein 26
PRO_0000314612Add
BLAST

Proteomic databases

MaxQBiQ68DK2.
PaxDbiQ68DK2.
PRIDEiQ68DK2.

PTM databases

PhosphoSiteiQ68DK2.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

ArrayExpressiQ68DK2.
BgeeiQ68DK2.
CleanExiHS_ZFYVE26.
GenevestigatoriQ68DK2.

Organism-specific databases

HPAiHPA055500.

Interactioni

Subunit structurei

Interacts with AP5Z1, AP5B1, AP5S1 and SPG11. Interacts with TTC19 and KIF13A.2 Publications

Protein-protein interaction databases

BioGridi117050. 1 interaction.
IntActiQ68DK2. 2 interactions.
STRINGi9606.ENSP00000251119.

Structurei

3D structure databases

ProteinModelPortaliQ68DK2.
SMRiQ68DK2. Positions 1809-1868.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili868 – 89528 Reviewed prediction
Add
BLAST

Domaini

The FYVE-type zinc finger mediates binding to phosphatidylinositol 3-phosphate and recruitment to the midbody during cytokinesis.1 Publication

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiNOG247110.
HOVERGENiHBG108766.
InParanoidiQ68DK2.
OrthoDBiEOG776SP2.
PhylomeDBiQ68DK2.
TreeFamiTF324517.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR028730. ZFYVE26.
IPR000306. Znf_FYVE.
IPR017455. Znf_FYVE-rel.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PANTHERiPTHR22835:SF115. PTHR22835:SF115. 1 hit.
PfamiPF01363. FYVE. 1 hit.
[Graphical view]
SMARTiSM00064. FYVE. 1 hit.
[Graphical view]
SUPFAMiSSF57903. SSF57903. 1 hit.
PROSITEiPS50178. ZF_FYVE. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q68DK2-1) [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

MNHPFGKEEA ASQKQLFGFF CECLRRGEWE LAQACVPQLQ EGQGDIPKRV     50
EDILQALVVC PNLLRCGQDI NPQRVAWVWL LVLEKWLARE KKLLPVVFRR 100
KLEFLLLSED LQGDIPENIL EELYETLTQG AVGHVPDGNP RRESWTPRLS 150
SEAVSVLWDL LRQSPQPAQA LLELLLEEDD GTGLCHWPLQ NALVDLIRKA 200
LRALQGPDSV PPGVVDAIYG ALRTLRCPAE PLGVELHLLC EELLEACRTE 250
GSPLREERLL SCLLHKASRG LLSLYGHTYA EKVTEKPPRA TASGKVSPDH 300
LDPERAMLAL FSNPNPAEAW KVAYFYCLSN NKHFLEQILV TALTLLKEED 350
FPNLGCLLDR EFRPLSCLLV LLGWTHCQSL ESAKRLLQTL HRTQGPGCDE 400
LLRDACDGLW AHLEVLEWCI QQSSNPIPKR DLLYHLHGGD SHSVLYTLHH 450
LTNLPALREE DVLKLLQKVP AKDPQQEPDA VDAPVPEHLS QCQNLTLYQG 500
FCAMKYAIYA LCVNSHQHSQ CQDCKDSLSE DLASATEPAN DSLSSPGAAN 550
LFSTYLARCQ QYLCSIPDSL CLELLENIFS LLLITSADLH PEPHLPEDYA 600
EDDDIEGKSP SGLRSPSESP QHIAHPERKS ERGSLGVPKT LAYTMPSHVK 650
AEPKDSYPGP HRHSFLDLKH FTSGISGFLA DEFAIGAFLR LLQEQLDEIS 700
SRSPPEKPKQ ESQSCSGSRD GLQSRLHRLS KVVSEAQWRH KVVTSNHRSE 750
EQPSRRYQPA TRHPSLRRGR RTRRSQADGR DRGSNPSLES TSSELSTSTS 800
EGSLSAMSGR NELHSRLHPH PQSSLIPMMF SPPESLLASC ILRGNFAEAH 850
QVLFTFNLKS SPSSGELMFM ERYQEVIQEL AQVEHKIENQ NSDAGSSTIR 900
RTGSGRSTLQ AIGSAAAAGM VFYSISDVTD KLLNTSGDPI PMLQEDFWIS 950
TALVEPTAPL REVLEDLSPP AMAAFDLACS QCQLWKTCKQ LLETAERRLN 1000
SSLERRGRRI DHVLLNADGI RGFPVVLQQI SKSLNYLLMS ASQTKSESVE 1050
EKGGGPPRCS ITELLQMCWP SLSEDCVASH TTLSQQLDQV LQSLREALEL 1100
PEPRTPPLSS LVEQAAQKAP EAEAHPVQIQ TQLLQKNLGK QTPSGSRQMD 1150
YLGTFFSYCS TLAAVLLQSL SSEPDHVEVK VGNPFVLLQQ SSSQLVSHLL 1200
FERQVPPERL AALLAQENLS LSVPQVIVSC CCEPLALCSS RQSQQTSSLL 1250
TRLGTLAQLH ASHCLDDLPL STPSSPRTTE NPTLERKPYS SPRDSSLPAL 1300
TSSALAFLKS RSKLLATVAC LGASPRLKVS KPSLSWKELR GRREVPLAAE 1350
QVARECERLL EQFPLFEAFL LAAWEPLRGS LQQGQSLAVN LCGWASLSTV 1400
LLGLHSPIAL DVLSEAFEES LVARDWSRAL QLTEVYGRDV DDLSSIKDAV 1450
LSCAVACDKE GWQYLFPVKD ASLRSRLALQ FVDRWPLESC LEILAYCISD 1500
TAVQEGLKCE LQRKLAELQV YQKILGLQSP PVWCDWQTLR SCCVEDPSTV 1550
MNMILEAQEY ELCEEWGCLY PIPREHLISL HQKHLLHLLE RRDHDKALQL 1600
LRRIPDPTMC LEVTEQSLDQ HTSLATSHFL ANYLTTHFYG QLTAVRHREI 1650
QALYVGSKIL LTLPEQHRAS YSHLSSNPLF MLEQLLMNMK VDWATVAVQT 1700
LQQLLVGQEI GFTMDEVDSL LSRYAEKALD FPYPQREKRS DSVIHLQEIV 1750
HQAADPETLP RSPSAEFSPA APPGISSIHS PSLRERSFPP TQPSQEFVPP 1800
ATPPARHQWV PDETESICMV CCREHFTMFN RRHHCRRCGR LVCSSCSTKK 1850
MVVEGCRENP ARVCDQCYSY CNKDVPEEPS EKPEALDSSK SESPPYSFVV 1900
RVPKADEVEW ILDLKEEENE LVRSEFYYEQ APSASLCIAI LNLHRDSIAC 1950
GHQLIEHCCR LSKGLTNPEV DAGLLTDIMK QLLFSAKMMF VKAGQSQDLA 2000
LCDSYISKVD VLNILVAAAY RHVPSLDQIL QPAAVTRLRN QLLEAEYYQL 2050
GVEVSTKTGL DTTGAWHAWG MACLKAGNLT AAREKFSRCL KPPFDLNQLN 2100
HGSRLVQDVV EYLESTVRPF VSLQDDDYFA TLRELEATLR TQSLSLAVIP 2150
EGKIMNNTYY QECLFYLHNY STNLAIISFY VRHSCLREAL LHLLNKESPP 2200
EVFIEGIFQP SYKSGKLHTL ENLLESIDPT LESWGKYLIA ACQHLQKKNY 2250
YHILYELQQF MKDQVRAAMT CIRFFSHKAK SYTELGEKLS WLLKAKDHLK 2300
IYLQETSRSS GRKKTTFFRK KMTAADVSRH MNTLQLQMEV TRFLHRCESA 2350
GTSQITTLPL PTLFGNNHMK MDVACKVMLG GKNVEDGFGI AFRVLQDFQL 2400
DAAMTYCRAA RQLVEKEKYS EIQQLLKCVS ESGMAAKSDG DTILLNCLEA 2450
FKRIPPQELE GLIQAIHNDD NKVRAYLICC KLRSAYLIAV KQEHSRATAL 2500
VQQVQQAAKS SGDAVVQDIC AQWLLTSHPR GAHGPGSRK 2539
Length:2,539
Mass (Da):284,576
Last modified:May 18, 2010 - v3
Checksum:i991862A89C8581F1
GO
Isoform 2 (identifier: Q68DK2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     203-223: Missing.

Note: No experimental confirmation available.

Show »
Length:2,518
Mass (Da):282,499
Checksum:i922EDB05E118C1DA
GO
Isoform 4 (identifier: Q68DK2-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     778-791: DGRDRGSNPSLEST → GNLKSSFPCTRQVV
     792-2539: Missing.

Note: No experimental confirmation available.

Show »
Length:791
Mass (Da):88,820
Checksum:i380D3A84F74C1023
GO
Isoform 3 (identifier: Q68DK2-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:688
Mass (Da):77,970
Checksum:i2229E6E433962E5B
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti429 – 4291K → E.
Corresponds to variant rs34059852 [ dbSNP | Ensembl ].
VAR_037987
Natural varianti898 – 8981T → S.
Corresponds to variant rs17192170 [ dbSNP | Ensembl ].
VAR_037988
Natural varianti951 – 9511T → M.
Corresponds to variant rs35471427 [ dbSNP | Ensembl ].
VAR_037989
Natural varianti1071 – 10711S → N.
Corresponds to variant rs7156206 [ dbSNP | Ensembl ].
VAR_037990
Natural varianti1103 – 11031P → L.1 Publication
Corresponds to variant rs3742885 [ dbSNP | Ensembl ].
VAR_037991
Natural varianti1122 – 11221A → V.
Corresponds to variant rs3742884 [ dbSNP | Ensembl ].
VAR_037992
Natural varianti1164 – 11641A → E in a breast cancer sample; somatic mutation. 1 Publication
VAR_037993
Natural varianti1457 – 14571C → Y.2 Publications
Corresponds to variant rs2235967 [ dbSNP | Ensembl ].
VAR_037994
Natural varianti1891 – 18911S → N.2 Publications
Corresponds to variant rs3742883 [ dbSNP | Ensembl ].
VAR_037995
Natural varianti1945 – 19451R → Q in a breast cancer sample; somatic mutation. 1 Publication
VAR_037996
Natural varianti2411 – 24111R → H.
Corresponds to variant rs34373049 [ dbSNP | Ensembl ].
VAR_037997

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 18091809Missing in isoform 3.
VSP_030338Add
BLAST
Alternative sequencei203 – 22321Missing in isoform 2.
VSP_030339Add
BLAST
Alternative sequencei778 – 79114DGRDR…SLEST → GNLKSSFPCTRQVV in isoform 4.
VSP_041049Add
BLAST
Alternative sequencei792 – 25391748Missing in isoform 4.
VSP_041050Add
BLAST
Alternative sequencei1810 – 182819VPDET…EHFTM → MAISPSLLPLSSPPDGIPQ in isoform 3.
VSP_030340Add
BLAST
Alternative sequencei2473 – 253967VRAYL…PGSRK → IVPILAALRDRVHTEERGRS PSTLC in isoform 3.
VSP_030341Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti243 – 2431L → P in CAD97882. 1 Publication
Sequence conflicti556 – 5561L → P in BAG11658. 1 Publication
Sequence conflicti586 – 5861S → P in CAH18131. 1 Publication
Sequence conflicti629 – 6291K → E in CAH18131. 1 Publication
Sequence conflicti946 – 9461D → G in CAH18218. 1 Publication
Sequence conflicti1040 – 10401S → T in BAG11658. 1 Publication
Sequence conflicti1115 – 11151A → T in CAH18131. 1 Publication
Sequence conflicti1320 – 13201C → S in CAH18218. 1 Publication
Sequence conflicti1358 – 13581R → H in CAH18131. 1 Publication
Sequence conflicti1556 – 15561E → V in CAH18131. 1 Publication
Sequence conflicti1597 – 15971A → T in CAH10379. 1 Publication
Sequence conflicti1615 – 16151E → K in CAH10379. 1 Publication
Sequence conflicti1670 – 16701S → N in CAH18218. 1 Publication
Sequence conflicti1727 – 17271K → R in CAH10379. 1 Publication
Sequence conflicti1774 – 17741G → D in CAD97882. 1 Publication
Sequence conflicti2246 – 22461Q → L in CAH18131. 1 Publication
Sequence conflicti2288 – 22881K → R in CAD97882. 1 Publication
Sequence conflicti2434 – 24341M → L in AAH33235. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS9788.1. [Q68DK2-1]
RefSeqiNP_056161.2. NM_015346.3.
UniGeneiHs.98041.

Genome annotation databases

EnsembliENST00000347230; ENSP00000251119; ENSG00000072121.
GeneIDi23503.
KEGGihsa:23503.
UCSCiuc001xka.2. human. [Q68DK2-1]
uc010tta.2. human. [Q68DK2-4]

Polymorphism databases

DMDMi296453077.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS9788.1. [Q68DK2-1 ]
RefSeqi NP_056161.2. NM_015346.3.
UniGenei Hs.98041.

3D structure databases

ProteinModelPortali Q68DK2.
SMRi Q68DK2. Positions 1809-1868.
ModBasei Search...

Protein-protein interaction databases

BioGridi 117050. 1 interaction.
IntActi Q68DK2. 2 interactions.
STRINGi 9606.ENSP00000251119.

PTM databases

PhosphoSitei Q68DK2.

Polymorphism databases

DMDMi 296453077.

Proteomic databases

MaxQBi Q68DK2.
PaxDbi Q68DK2.
PRIDEi Q68DK2.

Protocols and materials databases

DNASUi 23503.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000347230 ; ENSP00000251119 ; ENSG00000072121 .
GeneIDi 23503.
KEGGi hsa:23503.
UCSCi uc001xka.2. human. [Q68DK2-1 ]
uc010tta.2. human. [Q68DK2-4 ]

Organism-specific databases

CTDi 23503.
GeneCardsi GC14M068194.
H-InvDBi HIX0011757.
HGNCi HGNC:20761. ZFYVE26.
HPAi HPA055500.
MIMi 270700. phenotype.
612012. gene.
neXtProti NX_Q68DK2.
Orphaneti 100996. Autosomal recessive spastic paraplegia type 15.
PharmGKBi PA134904455.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG247110.
HOVERGENi HBG108766.
InParanoidi Q68DK2.
OrthoDBi EOG776SP2.
PhylomeDBi Q68DK2.
TreeFami TF324517.

Miscellaneous databases

ChiTaRSi ZFYVE26. human.
GenomeRNAii 23503.
NextBioi 45881.
PROi Q68DK2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q68DK2.
Bgeei Q68DK2.
CleanExi HS_ZFYVE26.
Genevestigatori Q68DK2.

Family and domain databases

Gene3Di 3.30.40.10. 1 hit.
InterProi IPR028730. ZFYVE26.
IPR000306. Znf_FYVE.
IPR017455. Znf_FYVE-rel.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
PANTHERi PTHR22835:SF115. PTHR22835:SF115. 1 hit.
Pfami PF01363. FYVE. 1 hit.
[Graphical view ]
SMARTi SM00064. FYVE. 1 hit.
[Graphical view ]
SUPFAMi SSF57903. SSF57903. 1 hit.
PROSITEi PS50178. ZF_FYVE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. 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. 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. Cited for: POSSIBLE FUNCTION, INTERACTION WITH AP5Z1; AP5B1; AP5S1 AND SPG11.
  13. Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLU-1164 AND GLN-1945.

Entry informationi

Entry nameiZFY26_HUMAN
AccessioniPrimary (citable) accession number: Q68DK2
Secondary accession number(s): B1B5Y3
, B4E2U3, O15035, Q68DT9, Q6AW90, Q6ZR50, Q7Z3A4, Q7Z3I1, Q8N4W7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: September 3, 2014
This is version 91 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 14
    Human chromosome 14: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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