Q9UHY8 (FEZ2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fasciculation and elongation protein zeta-2

Alternative name(s):
Zygin II
Zygin-2

Gene names

Name:

FEZ2

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	353 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in axonal outgrowth and fasciculation By similarity.
Subunit structure	Homodimer; difulfide-linked. May form heterodimers with FEZ1. Interacts with synaptotagmin. Ref.7 Ref.8
Tissue specificity	Expressed in nonneural tissues, such as heart, lung, spleen, muscle, testis, placenta and melanocytes.
Sequence similarities	Belongs to the zygin family.
Sequence caution	The sequence AAF14865.1 differs from that shown. Reason: Frameshift at positions 41, 51, 71, 78 and 84.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axon guidance Traceable author statement Ref.6. Source: ProtInc signal transduction Traceable author statement Ref.6. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NEK1	Q96PY6	2	EBI-396453,EBI-373615

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UHY8-1)

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: Q9UHY8-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 353	353	Fasciculation and elongation protein zeta-2		PRO_0000189528
Regions
	Coiled coil	214 – 286	73	Potential
	Compositional bias	278 – 284	7	Poly-Lys
Amino acid modifications
	Disulfide bond	153		Interchain Potential
Natural variations
	Alternative sequence	301	1	T → TRFSMEGISNVIQNGLRHTF GNSGGEKQ in isoform 2.		VSP_041368
	Natural variant	50	1	P → L. Ref.4 Corresponds to variant rs1544655 [ dbSNP | Ensembl ].		VAR_053771
	Natural variant	329	1	R → C. Corresponds to variant rs848642 [ dbSNP | Ensembl ].		VAR_053772
Experimental info
	Sequence conflict	33 – 36	4	GAEA → WAKG in AAF14865. Ref.4
	Sequence conflict	40	1	A → T in AAF14865. Ref.4
	Sequence conflict	82	1	R → L in AAF14865. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 27, 2005. Version 2. Checksum: 4F55D0FC1A6B3421	FASTA	353	39,666
	10 20 30 40 50 60 MAADGDWQDF YEFQEPARSL LDQENCNASP EPGAEAGAEA GGGADGFPAP ACSLEEKLSL 70 80 90 100 110 120 CFRPSDPGAE PPRTAVRPIT ERSLLQGDEI WNALTDNYGN VMPVDWKSSH TRTLHLLTLN 130 140 150 160 170 180 LSEKGVSDSL LFDTSDDEEL REQLDMHSII VSCVNDEPLF TADQVIEEIE EMMQESPDPE 190 200 210 220 230 240 DDETPTQSDR LSMLSQEIQT LKRSSTGSYE ERVKRLSVSE LNEILEEIET AIKEYSEELV 250 260 270 280 290 300 QQLALRDELE FEKEVKNSFI SVLIEVQNKQ KEHKETAKKK KKLKNGSSQN GKNERSHMPG 310 320 330 340 350 TYLTTVIPYE KKNGPPSVED LQILTKILRA MKEDSEKVPS LLTDYILKVL CPT
	Isoform 2 [UniParc]. Checksum: 25203DE1EA50A35C	FASTA	380	42,613
	10 20 30 40 50 60 MAADGDWQDF YEFQEPARSL LDQENCNASP EPGAEAGAEA GGGADGFPAP ACSLEEKLSL 70 80 90 100 110 120 CFRPSDPGAE PPRTAVRPIT ERSLLQGDEI WNALTDNYGN VMPVDWKSSH TRTLHLLTLN 130 140 150 160 170 180 LSEKGVSDSL LFDTSDDEEL REQLDMHSII VSCVNDEPLF TADQVIEEIE EMMQESPDPE 190 200 210 220 230 240 DDETPTQSDR LSMLSQEIQT LKRSSTGSYE ERVKRLSVSE LNEILEEIET AIKEYSEELV 250 260 270 280 290 300 QQLALRDELE FEKEVKNSFI SVLIEVQNKQ KEHKETAKKK KKLKNGSSQN GKNERSHMPG 310 320 330 340 350 360 TRFSMEGISN VIQNGLRHTF GNSGGEKQYL TTVIPYEKKN GPPSVEDLQI LTKILRAMKE 370 380 DSEKVPSLLT DYILKVLCPT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning." Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L. Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract] 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00006098. IPI00554632.
RefSeq	NP_001036013.1. NM_001042548.1. NP_005093.2. NM_005102.2.
UniGene	Hs.258563.
3D structure databases
ProteinModelPortal	Q9UHY8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UHY8. 4 interactions.
STRING	9606.ENSP00000368547.
PTM databases
PhosphoSite	Q9UHY8.
Polymorphism databases
DMDM	76803658.
Proteomic databases
PaxDb	Q9UHY8.
PRIDE	Q9UHY8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000379245; ENSP00000368547; ENSG00000171055. ENST00000405912; ENSP00000385112; ENSG00000171055.
GeneID	9637.
KEGG	hsa:9637.
UCSC	uc002rpf.2. human. uc002rpg.2. human.
Organism-specific databases
CTD	9637.
GeneCards	GC02M036775.
HGNC	HGNC:3660. FEZ2.
HPA	HPA035978.
MIM	604826. gene.
neXtProt	NX_Q9UHY8.
PharmGKB	PA28101.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG301676.
HOGENOM	HOG000019494.
HOVERGEN	HBG005657.
OMA	SHVPGTY.
Gene expression databases
ArrayExpress	Q9UHY8.
Bgee	Q9UHY8.
CleanEx	HS_FEZ2.
Genevestigator	Q9UHY8.
GermOnline	ENSG00000171055. Homo sapiens.
Family and domain databases
InterPro	IPR011680. FEZ. [Graphical view]
PANTHER	PTHR12394. PTHR12394. 1 hit.
Pfam	PF07763. FEZ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	9637.
NextBio	36171.
SOURCE	Search...

Entry information

Entry name

FEZ2_HUMAN

Accession

Primary (citable) accession number: Q9UHY8
Secondary accession number(s): Q5EBN3, Q76LN0, Q99690

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	September 27, 2005
Last modified:	April 3, 2013
This is version 92 of the entry and version 2 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.