Q7Z3B4 (NUP54_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Nucleoporin p54

Alternative name(s):
54 kDa nucleoporin

Gene names

Name:

NUP54

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

General annotation (Comments)

Function	Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane By similarity.
Subunit structure	Component of the p62 complex, a complex composed of NUP62, NUP54, and the isoform p58 and isoform p45 of NUPL1 By similarity.
Subcellular location	Nucleus › nuclear pore complex By similarity. Nucleus membrane; Peripheral membrane protein; Cytoplasmic side By similarity. Nucleus membrane; Peripheral membrane protein; Nucleoplasmic side By similarity. Note: Biased towards cytoplasmic side. Central region of the nuclear pore complex, within the transporter By similarity.
Domain	Contains FG repeats.
Post-translational modification	O-glycosylated By similarity.
Sequence similarities	Belongs to the NUP54 family.
Sequence caution	The sequence BAA91735.1 differs from that shown. Reason: Frameshift at position 479.

Ontologies

Keywords
Biological process	Protein transport Translocation Transport mRNA transport
Cellular component	Membrane Nuclear pore complex Nucleus
Coding sequence diversity	Alternative splicing
Domain	Repeat
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Traceable author statement. Source: Reactome cytokine-mediated signaling pathway Traceable author statement. Source: Reactome glucose transport Traceable author statement. Source: Reactome mRNA transport Inferred from electronic annotation. Source: UniProtKB-KW protein targeting Inferred from electronic annotation. Source: Compara regulation of glucose transport Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome transmembrane transport Traceable author statement. Source: Reactome viral reproductive process Traceable author statement. Source: Reactome
Cellular_component	cytoplasm Traceable author statement PubMed 8707840. Source: ProtInc nuclear membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nuclear pore Traceable author statement PubMed 8707840. Source: ProtInc nucleoplasm Traceable author statement PubMed 8707840. Source: ProtInc
Molecular_function	nucleocytoplasmic transporter activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q7Z3B4-1)

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: Q7Z3B4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-180: Missing.
     353-388: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 507	507	Nucleoporin p54		PRO_0000204874
Regions
	Repeat	5 – 6	2	1
	Repeat	25 – 26	2	2
	Repeat	28 – 29	2	3
	Repeat	53 – 54	2	4
	Repeat	61 – 62	2	5
	Repeat	63 – 64	2	6
	Repeat	67 – 68	2	7
	Repeat	87 – 88	2	8
	Repeat	444 – 445	2	9
	Region	5 – 445	441	9 X 2 AA repeats of F-G
	Compositional bias	6 – 89	84	Gly-rich
	Compositional bias	30 – 99	70	Thr-rich
	Compositional bias	93 – 97	5	Poly-Gln
	Compositional bias	205 – 208	4	Poly-Gln
Natural variations
	Alternative sequence	1 – 180	180	Missing in isoform 2.		VSP_008740
	Alternative sequence	353 – 388	36	Missing in isoform 2.		VSP_008741
Experimental info
	Sequence conflict	22 – 25	4	AGGF → GWV in AAF67488. Ref.1
	Sequence conflict	226	1	N → S in BAA91735. Ref.2
	Sequence conflict	265 – 277	13	FEQAN…QLQQL → LNKPYKNTIAAT in AAF67488. Ref.1
	Sequence conflict	322	1	L → V in AAF67488. Ref.1
	Sequence conflict	363	1	K → T in AAF67488. Ref.1
	Sequence conflict	433	1	E → G in AAF67488. Ref.1
	Sequence conflict	507	1	S → G in CAD97957. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 31, 2003. Version 2. Checksum: B5D235E01F1FE467	FASTA	507	55,435
	10 20 30 40 50 60 MAFNFGAPSG TSGTAAATAA PAGGFGGFGT TSTTAGSAFS FSAPTNTGTT GLFGGTQNKG 70 80 90 100 110 120 FGFGTGFGTT TGTSTGLGTG LGTGLGFGGF NTQQQQQTTL GGLFSQPTQA PTQSNQLINT 130 140 150 160 170 180 ASALSAPTLL GDERDAILAK WNQLQAFWGT GKGYFNNNIP PVEFTQENPF CRFKAVGYSC 190 200 210 220 230 240 MPSNKDEDGL VVLVFNKKET EIRSQQQQLV ESLHKVLGGN QTLTVNVEGT KTLPDDQTEV 250 260 270 280 290 300 VIYVVERSPN GTSRRVPATT LYAHFEQANI KTQLQQLGVT LSMTRTELSP AQIKQLLQNP 310 320 330 340 350 360 PAGVDPIIWE QAKVDNPDSE KLIPVPMVGF KELLRRLKVQ DQMTKQHQTR LDIISEDISE 370 380 390 400 410 420 LQKNQTTSVA KIAQYKRKLM DLSHRTLQVL IKQEIQRKSG YAIQADEEQL RVQLDTIQGE 430 440 450 460 470 480 LNAPTQFKGR LNELMSQIRM QNHFGAVRSE ERYYIDADLL REIKQHLKQQ QEGLSHLISI 490 500 IKDDLEDIKL VEHGLNETIH IRGGVFS
	Isoform 2 [UniParc]. Checksum: 442CA17A5CBC6D3E	FASTA	291	33,180
	10 20 30 40 50 60 MPSNKDEDGL VVLVFNKKET EIRSQQQQLV ESLHKVLGGN QTLTVNVEGT KTLPDDQTEV 70 80 90 100 110 120 VIYVVERSPN GTSRRVPATT LYAHFEQANI KTQLQQLGVT LSMTRTELSP AQIKQLLQNP 130 140 150 160 170 180 PAGVDPIIWE QAKVDNPDSE KLIPVPMVGF KELLRRLKVQ DQMTKQHQTR LDVLIKQEIQ 190 200 210 220 230 240 RKSGYAIQAD EEQLRVQLDT IQGELNAPTQ FKGRLNELMS QIRMQNHFGA VRSEERYYID 250 260 270 280 290 ADLLREIKQH LKQQQEGLSH LISIIKDDLE DIKLVEHGLN ETIHIRGGVF S

References

[1]	"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] (ISOFORM 1). Tissue: Pituitary.
[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] (ISOFORM 1). Tissue: Teratocarcinoma.
[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] (ISOFORM 2). Tissue: Endometrial tumor.
[4]	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].
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF157322 mRNA. Translation: AAF67488.1. AK001517 mRNA. Translation: BAA91735.1. Frameshift. AK315160 mRNA. Translation: BAG37604.1. BX538002 mRNA. Translation: CAD97957.1. CH471057 Genomic DNA. Translation: EAX05777.1.
IPI	IPI00386702. IPI01019011.
RefSeq	NP_059122.2. NM_017426.2.
UniGene	Hs.430435.
3D structure databases
ProteinModelPortal	Q7Z3B4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z3B4. 4 interactions.
MINT	MINT-1477978.
STRING	9606.ENSP00000264883.
PTM databases
PhosphoSite	Q7Z3B4.
Polymorphism databases
DMDM	38257923.
Proteomic databases
PaxDb	Q7Z3B4.
PRIDE	Q7Z3B4.
Protocols and materials databases
DNASU	53371.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264883; ENSP00000264883; ENSG00000138750. ENST00000342467; ENSP00000344052; ENSG00000138750.
GeneID	53371.
KEGG	hsa:53371.
UCSC	uc003hjs.3. human. uc003hjt.3. human.
Organism-specific databases
CTD	53371.
GeneCards	GC04M077035.
H-InvDB	HIX0004305.
HGNC	HGNC:17359. NUP54.
HPA	HPA035929.
MIM	607607. gene.
neXtProt	NX_Q7Z3B4.
PharmGKB	PA31853.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG136872.
HOGENOM	HOG000046583.
HOVERGEN	HBG052698.
InParanoid	Q7Z3B4.
KO	K14308.
OMA	DIKLIEH.
PhylomeDB	Q7Z3B4.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_116125. Disease. REACT_15518. Transmembrane transport of small molecules. REACT_6900. Immune System.
Gene expression databases
ArrayExpress	Q7Z3B4.
Bgee	Q7Z3B4.
CleanEx	HS_NUP54.
Genevestigator	Q7Z3B4.
GermOnline	ENSG00000138750. Homo sapiens.
Family and domain databases
InterPro	IPR024864. Nup54/Nup57/Nup44. IPR025712. Nup54_alpha-helical_dom. [Graphical view]
PANTHER	PTHR13000. PTHR13000. 1 hit.
Pfam	PF13874. Nup54. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	53371.
NextBio	56030.
SOURCE	Search...

Entry information

Entry name

NUP54_HUMAN

Accession

Primary (citable) accession number: Q7Z3B4
Secondary accession number(s): B2RCK7 , Q96EA7, Q9NVL5, Q9P0I1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2003
Last sequence update:	October 31, 2003
Last modified:	May 29, 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.