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Q9BTX1 (NDC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nucleoporin NDC1

Short name=hNDC1
Alternative name(s):
Transmembrane protein 48
Gene names
Name:NDC1
Synonyms:TMEM48
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length674 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane. Ref.8

Subunit structure

Interacts with the NUP35/NUP53 By similarity.

Subcellular location

Nucleusnuclear pore complex. Nucleus membrane; Multi-pass membrane protein. Note: Central core structure of the nuclear pore complex. Ref.6 Ref.8

Sequence similarities

Belongs to the NDC1 family.

Sequence caution

The sequence BAB14135.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAC03665.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BTX1-1)

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: Q9BTX1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     93-93: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9BTX1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     376-492: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9BTX1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     509-542: GKTMRQPSVIYSWIQNKREQIKNFLSKRVLIMYF → APRGLHSGCFFRCPNAYLGIRRSVALSSSIIYRG
     543-674: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 674674Nucleoporin NDC1
PRO_0000235240

Regions

Topological domain1 – 2424Cytoplasmic Potential
Transmembrane25 – 4521Helical; Name=1; Potential
Topological domain46 – 6823Perinuclear space Potential
Transmembrane69 – 8921Helical; Name=2; Potential
Topological domain90 – 11425Cytoplasmic Potential
Transmembrane115 – 13521Helical; Name=3; Potential
Topological domain136 – 16530Perinuclear space Potential
Transmembrane166 – 18621Helical; Name=4; Potential
Topological domain187 – 22539Cytoplasmic Potential
Transmembrane226 – 24621Helical; Name=5; Potential
Topological domain247 – 27226Perinuclear space Potential
Transmembrane273 – 29321Helical; Name=6; Potential
Topological domain294 – 674381Cytoplasmic Potential

Amino acid modifications

Modified residue4061Phosphoserine Ref.7 Ref.9 Ref.12
Modified residue4141Phosphothreonine Ref.12
Modified residue4391Phosphoserine Ref.10
Modified residue4401Phosphothreonine Ref.10
Modified residue4451Phosphoserine Ref.10 Ref.12
Modified residue4491Phosphothreonine Ref.10
Modified residue4711Phosphoserine Ref.10 Ref.12
Modified residue4741Phosphoserine Ref.10 Ref.12

Natural variations

Alternative sequence931Missing in isoform 2.
VSP_018396
Alternative sequence376 – 492117Missing in isoform 3.
VSP_018397
Alternative sequence509 – 54234GKTMR…LIMYF → APRGLHSGCFFRCPNAYLGI RRSVALSSSIIYRG in isoform 4.
VSP_018398
Alternative sequence543 – 674132Missing in isoform 4.
VSP_018399
Natural variant1541G → D. Ref.1 Ref.5
Corresponds to variant rs17849721 [ dbSNP | Ensembl ].
VAR_026388

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 16, 2006. Version 2.
Checksum: 78368FEB232895D9

FASTA67476,305
        10         20         30         40         50         60 
MATAVSRPCA GRSRDILWRV LGWRIVASIV WSVLFLPICT TVFIIFSRID LFHPIQWLSD 

        70         80         90        100        110        120 
SFSDLYSSYV IFYFLLLSVV IIIISIFNVE FYAVVPSIPC SRLALIGKII HPQQLMHSFI 

       130        140        150        160        170        180 
HAAMGMVMAW CAAVITQGQY SFLVVPCTGT NSFGSPAAQT CLNEYHLFFL LTGAFMGYSY 

       190        200        210        220        230        240 
SLLYFVNNMN YLPFPIIQQY KFLRFRRSLL LLVKHSCVES LFLVRNFCIL YYFLGYIPKA 

       250        260        270        280        290        300 
WISTAMNLHI DEQVHRPLDT VSGLLNLSLL YHVWLCGVFL LTTWYVSWIL FKIYATEAHV 

       310        320        330        340        350        360 
FPVQPPFAEG SDECLPKVLN SNPPPIIKYL ALQDLMLLSQ YSPSRRQEVF SLSQPGGHPH 

       370        380        390        400        410        420 
NWTAISRECL NLLNGMTQKL ILYQEAAATN GRVSSSYPVE PKKLNSPEET AFQTPKSSQM 

       430        440        450        460        470        480 
PRPSVPPLVK TSLFSSKLST PDVVSPFGTP FGSSVMNRMA GIFDVNTCYG SPQSPQLIRR 

       490        500        510        520        530        540 
GPRLWTSASD QQMTEFSNPS PSTSISAEGK TMRQPSVIYS WIQNKREQIK NFLSKRVLIM 

       550        560        570        580        590        600 
YFFSKHPEAS IQAVFSDAQM HIWALEGLSH LVAASFTEDR FGVVQTTLPA ILNTLLTLQE 

       610        620        630        640        650        660 
AVDKYFKLPH ASSKPPRISG SLVDTSYKTL RFAFRASLKT AIYRITTTFG EHLNAVQASA 

       670 
EHQKRLQQFL EFKE 

« Hide

Isoform 2 [UniParc].

Checksum: 27A688260C1B2852
Show »

FASTA67376,234
Isoform 3 [UniParc].

Checksum: C9AC3DCCCF3D5EBE
Show »

FASTA55763,572
Isoform 4 [UniParc].

Checksum: 06630F6E487BAC55
Show »

FASTA54261,009

References

« Hide 'large scale' references
[1]"Characterization of NDC1 from metazoa."
Stavru F., Goerlich D., Hartmann E.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASP-154.
[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. expand/collapse author list , 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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 225-674 (ISOFORM 3).
Tissue: Brain and Teratocarcinoma.
[3]Rhodes S., Huckle E.
Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORM 1), VARIANT ASP-154.
Tissue: Brain.
[6]"Nuclear membrane proteins with potential disease links found by subtractive proteomics."
Schirmer E.C., Florens L., Guan T., Yates J.R. III, Gerace L.
Science 301:1380-1382(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION.
[7]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-406, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"The conserved transmembrane nucleoporin NDC1 is required for nuclear pore complex assembly in vertebrate cells."
Mansfeld J., Guettinger S., Hawryluk-Gara L.A., Pante N., Mall M., Galy V., Haselmann U., Muehlhaeusser P., Wozniak R.W., Mattaj I.W., Kutay U., Antonin W.
Mol. Cell 22:93-103(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY, PHOSPHORYLATION.
[9]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-406, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-439; THR-440; SER-445; THR-449; SER-471 AND SER-474, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[12]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-406; THR-414; SER-445; SER-471 AND SER-474, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ141696 mRNA. Translation: AAZ73087.1.
AK001269 mRNA. Translation: BAA91592.1.
AK022618 mRNA. Translation: BAB14135.1. Different initiation.
AK091439 mRNA. Translation: BAC03665.1. Different initiation.
AL354612 mRNA. Translation: CAB89725.1.
AL354613 mRNA. Translation: CAB89726.1.
AL049745 Genomic DNA. Translation: CAI22180.1.
BC003082 mRNA. Translation: AAH03082.1.
RefSeqNP_001162023.1. NM_001168551.1.
NP_060557.3. NM_018087.4.
UniGeneHs.476525.

3D structure databases

ProteinModelPortalQ9BTX1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120831. 2 interactions.
IntActQ9BTX1. 1 interaction.
STRING9606.ENSP00000360483.

PTM databases

PhosphoSiteQ9BTX1.

Polymorphism databases

DMDM97180263.

Proteomic databases

PaxDbQ9BTX1.
PRIDEQ9BTX1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371429; ENSP00000360483; ENSG00000058804. [Q9BTX1-1]
ENST00000540001; ENSP00000440873; ENSG00000058804. [Q9BTX1-4]
GeneID55706.
KEGGhsa:55706.
UCSCuc001cvs.3. human. [Q9BTX1-1]

Organism-specific databases

CTD55706.
GeneCardsGC01M054232.
H-InvDBHIX0000603.
HGNCHGNC:25525. NDC1.
MIM610115. gene.
neXtProtNX_Q9BTX1.
PharmGKBPA142670764.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG298560.
HOGENOMHOG000231135.
HOVERGENHBG080133.
InParanoidQ9BTX1.
KOK14315.
OMADECLPKV.
OrthoDBEOG7XH6PF.
PhylomeDBQ9BTX1.
TreeFamTF324843.

Gene expression databases

ArrayExpressQ9BTX1.
BgeeQ9BTX1.
CleanExHS_TMEM48.
GenevestigatorQ9BTX1.

Family and domain databases

InterProIPR019049. Nucleoporin_prot_Ndc1/Nup.
[Graphical view]
PfamPF09531. Ndc1_Nup. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTMEM48. human.
GeneWikiTMEM48.
GenomeRNAi55706.
NextBio60563.
PROQ9BTX1.
SOURCESearch...

Entry information

Entry nameNDC1_HUMAN
AccessionPrimary (citable) accession number: Q9BTX1
Secondary accession number(s): Q8NB76 expand/collapse secondary AC list , Q9H9T6, Q9NSG3, Q9NSG4, Q9NVZ7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 16, 2006
Last modified: March 19, 2014
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM