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Q9UHY8

- FEZ2_HUMAN

UniProt

Q9UHY8 - FEZ2_HUMAN

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Protein

Fasciculation and elongation protein zeta-2

Gene

FEZ2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Involved in axonal outgrowth and fasciculation.By similarity

GO - Biological processi

  1. axon guidance Source: ProtInc
  2. nervous system development Source: ProtInc
  3. signal transduction Source: ProtInc
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Fasciculation and elongation protein zeta-2
Alternative name(s):
Zygin II
Zygin-2
Gene namesi
Name:FEZ2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:3660. FEZ2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28101.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 353353Fasciculation and elongation protein zeta-2PRO_0000189528Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi153 – 153InterchainSequence Analysis

Keywords - PTMi

Disulfide bond

Proteomic databases

MaxQBiQ9UHY8.
PaxDbiQ9UHY8.
PRIDEiQ9UHY8.

PTM databases

PhosphoSiteiQ9UHY8.

Expressioni

Tissue specificityi

Expressed in nonneural tissues, such as heart, lung, spleen, muscle, testis, placenta and melanocytes.

Gene expression databases

BgeeiQ9UHY8.
CleanExiHS_FEZ2.
ExpressionAtlasiQ9UHY8. baseline and differential.
GenevestigatoriQ9UHY8.

Organism-specific databases

HPAiHPA035978.

Interactioni

Subunit structurei

Homodimer; disulfide-linked. May form heterodimers with FEZ1. Interacts with synaptotagmin.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NEK1Q96PY62EBI-396453,EBI-373615
ZDHHC17Q8IUH54EBI-396453,EBI-524753

Protein-protein interaction databases

BioGridi114996. 21 interactions.
IntActiQ9UHY8. 5 interactions.
STRINGi9606.ENSP00000368547.

Structurei

3D structure databases

ProteinModelPortaliQ9UHY8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili214 – 28673Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi278 – 2847Poly-Lys

Sequence similaritiesi

Belongs to the zygin family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG301676.
GeneTreeiENSGT00390000017627.
HOGENOMiHOG000019494.
HOVERGENiHBG005657.
InParanoidiQ9UHY8.
OMAiLTDNYGH.
PhylomeDBiQ9UHY8.
TreeFamiTF313128.

Family and domain databases

InterProiIPR011680. FEZ.
IPR015641. FEZ_2.
[Graphical view]
PANTHERiPTHR12394. PTHR12394. 1 hit.
PTHR12394:SF11. PTHR12394:SF11. 1 hit.
PfamiPF07763. FEZ. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UHY8) [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
MAADGDWQDF YEFQEPARSL LDQENCNASP EPGAEAGAEA GGGADGFPAP
60 70 80 90 100
ACSLEEKLSL CFRPSDPGAE PPRTAVRPIT ERSLLQGDEI WNALTDNYGN
110 120 130 140 150
VMPVDWKSSH TRTLHLLTLN LSEKGVSDSL LFDTSDDEEL REQLDMHSII
160 170 180 190 200
VSCVNDEPLF TADQVIEEIE EMMQESPDPE DDETPTQSDR LSMLSQEIQT
210 220 230 240 250
LKRSSTGSYE ERVKRLSVSE LNEILEEIET AIKEYSEELV QQLALRDELE
260 270 280 290 300
FEKEVKNSFI SVLIEVQNKQ KEHKETAKKK KKLKNGSSQN GKNERSHMPG
310 320 330 340 350
TYLTTVIPYE KKNGPPSVED LQILTKILRA MKEDSEKVPS LLTDYILKVL

CPT
Length:353
Mass (Da):39,666
Last modified:September 27, 2005 - v2
Checksum:i4F55D0FC1A6B3421
GO
Isoform 2 (identifier: Q9UHY8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     301-301: T → TRFSMEGISNVIQNGLRHTFGNSGGEKQ

Show »
Length:380
Mass (Da):42,613
Checksum:i25203DE1EA50A35C
GO

Sequence cautioni

The sequence AAF14865.1 differs from that shown. Reason: Frameshift at positions 41, 51, 71, 78 and 84.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti33 – 364GAEA → WAKG in AAF14865. (PubMed:10931946)Curated
Sequence conflicti40 – 401A → T in AAF14865. (PubMed:10931946)Curated
Sequence conflicti82 – 821R → L in AAF14865. (PubMed:10931946)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti50 – 501P → L.1 Publication
Corresponds to variant rs1544655 [ dbSNP | Ensembl ].
VAR_053771
Natural varianti329 – 3291R → C.
Corresponds to variant rs848642 [ dbSNP | Ensembl ].
VAR_053772

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei301 – 3011T → TRFSMEGISNVIQNGLRHTF GNSGGEKQ in isoform 2. 1 PublicationVSP_041368

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB076184 mRNA. Translation: BAD06207.1.
AC007401 Genomic DNA. Translation: AAY14650.1.
BC089390 mRNA. Translation: AAH89390.1.
AF113124 mRNA. Translation: AAF14865.1. Frameshift.
U69140 mRNA. Translation: AAB40661.1.
U60061 mRNA. Translation: AAC51283.1.
CCDSiCCDS46257.1. [Q9UHY8-1]
CCDS46258.1. [Q9UHY8-2]
RefSeqiNP_001036013.1. NM_001042548.1. [Q9UHY8-2]
NP_005093.2. NM_005102.2. [Q9UHY8-1]
UniGeneiHs.258563.

Genome annotation databases

EnsembliENST00000379245; ENSP00000368547; ENSG00000171055. [Q9UHY8-2]
ENST00000405912; ENSP00000385112; ENSG00000171055. [Q9UHY8-1]
GeneIDi9637.
KEGGihsa:9637.
UCSCiuc002rpf.2. human. [Q9UHY8-1]
uc002rpg.2. human. [Q9UHY8-2]

Polymorphism databases

DMDMi76803658.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB076184 mRNA. Translation: BAD06207.1 .
AC007401 Genomic DNA. Translation: AAY14650.1 .
BC089390 mRNA. Translation: AAH89390.1 .
AF113124 mRNA. Translation: AAF14865.1 . Frameshift.
U69140 mRNA. Translation: AAB40661.1 .
U60061 mRNA. Translation: AAC51283.1 .
CCDSi CCDS46257.1. [Q9UHY8-1 ]
CCDS46258.1. [Q9UHY8-2 ]
RefSeqi NP_001036013.1. NM_001042548.1. [Q9UHY8-2 ]
NP_005093.2. NM_005102.2. [Q9UHY8-1 ]
UniGenei Hs.258563.

3D structure databases

ProteinModelPortali Q9UHY8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114996. 21 interactions.
IntActi Q9UHY8. 5 interactions.
STRINGi 9606.ENSP00000368547.

PTM databases

PhosphoSitei Q9UHY8.

Polymorphism databases

DMDMi 76803658.

Proteomic databases

MaxQBi Q9UHY8.
PaxDbi Q9UHY8.
PRIDEi Q9UHY8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000379245 ; ENSP00000368547 ; ENSG00000171055 . [Q9UHY8-2 ]
ENST00000405912 ; ENSP00000385112 ; ENSG00000171055 . [Q9UHY8-1 ]
GeneIDi 9637.
KEGGi hsa:9637.
UCSCi uc002rpf.2. human. [Q9UHY8-1 ]
uc002rpg.2. human. [Q9UHY8-2 ]

Organism-specific databases

CTDi 9637.
GeneCardsi GC02M036775.
HGNCi HGNC:3660. FEZ2.
HPAi HPA035978.
MIMi 604826. gene.
neXtProti NX_Q9UHY8.
PharmGKBi PA28101.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG301676.
GeneTreei ENSGT00390000017627.
HOGENOMi HOG000019494.
HOVERGENi HBG005657.
InParanoidi Q9UHY8.
OMAi LTDNYGH.
PhylomeDBi Q9UHY8.
TreeFami TF313128.

Miscellaneous databases

GeneWikii FEZ2.
GenomeRNAii 9637.
NextBioi 36171.
PROi Q9UHY8.
SOURCEi Search...

Gene expression databases

Bgeei Q9UHY8.
CleanExi HS_FEZ2.
ExpressionAtlasi Q9UHY8. baseline and differential.
Genevestigatori Q9UHY8.

Family and domain databases

InterProi IPR011680. FEZ.
IPR015641. FEZ_2.
[Graphical view ]
PANTHERi PTHR12394. PTHR12394. 1 hit.
PTHR12394:SF11. PTHR12394:SF11. 1 hit.
Pfami PF07763. FEZ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of a tissue-non-specific homologue of axonal fasciculation and elongation protein zeta-1."
    Fujita T., Ikuta J., Hamada J., Okajima T., Tatematsu K., Tanizawa K., Kuroda S.
    Biochem. Biophys. Res. Commun. 313:738-744(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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 4-353 (ISOFORM 2).
    Tissue: Testis.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-353 (ISOFORM 1), VARIANT LEU-50.
    Tissue: Adrenal gland.
  5. "Zigins: a family of synaptotagmin-interacting proteins related to unc-76."
    Sugita S., von Poser C., Rosahl T.W., Hata Y., Suedhof T.C.
    Submitted (AUG-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 105-353 (ISOFORM 1).
  6. "The Caenorhabditis elegans gene unc-76 and its human homologs define a new gene family involved in axonal outgrowth and fasciculation."
    Bloom L., Horvitz H.R.
    Proc. Natl. Acad. Sci. U.S.A. 94:3414-3419(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 201-353 (ISOFORM 1).
  7. "FEZ1 dimerization and interaction with transcription regulatory proteins involves its coiled-coil region."
    Assmann E.M., Alborghetti M.R., Camargo M.E.R., Kobarg J.
    J. Biol. Chem. 281:9869-9881(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  8. "Human FEZ1 protein forms a disulfide bond mediated dimer: implications for cargo transport."
    Alborghetti M.R., Furlan A.S., Silva J.C., Paes Leme A.F., Torriani I.C., Kobarg J.
    J. Proteome Res. 9:4595-4603(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT, DISULFIDE BOND.

Entry informationi

Entry nameiFEZ2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHY8
Secondary accession number(s): Q5EBN3, Q76LN0, Q99690
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: September 27, 2005
Last modified: October 29, 2014
This is version 104 of the entry and version 2 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 2
    Human chromosome 2: 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