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Q8N0W7 (FMR1N_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fragile X mental retardation 1 neighbor protein
Alternative name(s):
Cancer/testis antigen 37
Short name=CT37
Sarcoma antigen NY-SAR-35
Gene names
Name:FMR1NB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length255 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Testis-specific. Expressed in melanoma, sarcoma, lung, breast, bladder, esophageal and ovarian cancers. Ref.1

Sequence similarities

Contains 1 P-type (trefoil) domain.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

nucleolus

Inferred from direct assay. Source: HPA

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 255255Fragile X mental retardation 1 neighbor protein
PRO_0000281735

Regions

Topological domain1 – 6868Cytoplasmic Potential
Transmembrane69 – 8921Helical; Potential
Topological domain90 – 18394Extracellular Potential
Transmembrane184 – 20421Helical; Potential
Topological domain205 – 25551Cytoplasmic Potential
Domain125 – 18460P-type

Natural variations

Natural variant1421A → V.
Corresponds to variant rs764631 [ dbSNP | Ensembl ].
VAR_031254

Sequences

Sequence LengthMass (Da)Tools
Q8N0W7 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: E4AAF48D171ED484

FASTA25529,241
        10         20         30         40         50         60 
MSSHRRKAKG RNRRSHRAMR VAHLELATYE LAATESNPES SHPGYEAAMA DRPQPGWRES 

        70         80         90        100        110        120 
LKMRVSKPFG MLMLSIWILL FVCYYLSYYL CSGSSYFVLA NGHILPNSEN AHGQSLEEDS 

       130        140        150        160        170        180 
ALEALLNFFF PTTCNLRENQ VAKPCNELQD LSESECLRHK CCFSSSGTTS FKCFAPFRDV 

       190        200        210        220        230        240 
PKQMMQMFGL GAISLILVCL PIYCRSLFWR SEPADDLQRQ DNRVVTGLKK QRRKRKRKSE 

       250 
MLQKAARGRE EHGDE 

« Hide

References

« Hide 'large scale' references
[1]"Immunomic analysis of human sarcoma."
Lee S.-Y., Obata Y., Yoshida M., Stockert E., Williamson B., Jungbluth A.A., Chen Y.-T., Old L.J., Scanlan M.J.
Proc. Natl. Acad. Sci. U.S.A. 100:2651-2656(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[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].
Tissue: Testis.
[3]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. expand/collapse author list , 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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].
Tissue: Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY211917 mRNA. Translation: AAO65170.1.
AK098602 mRNA. Translation: BAC05349.1.
CH471171 Genomic DNA. Translation: EAW61291.1.
CH471171 Genomic DNA. Translation: EAW61292.1.
BC034320 mRNA. Translation: AAH34320.1.
CCDSCCDS14683.1.
RefSeqNP_689791.1. NM_152578.2.
UniGeneHs.128580.

3D structure databases

ProteinModelPortalQ8N0W7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000359498.

PTM databases

PhosphoSiteQ8N0W7.

Polymorphism databases

DMDM74728471.

Proteomic databases

PaxDbQ8N0W7.
PRIDEQ8N0W7.

Protocols and materials databases

DNASU158521.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370467; ENSP00000359498; ENSG00000176988.
ENST00000598268; ENSP00000471541; ENSG00000268827.
GeneID158521.
KEGGhsa:158521.
UCSCuc004fcm.3. human.

Organism-specific databases

CTD158521.
GeneCardsGC0XP147062.
HGNCHGNC:26372. FMR1NB.
HPACAB026403.
HPA011284.
neXtProtNX_Q8N0W7.
PharmGKBPA134927784.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45156.
HOGENOMHOG000112622.
InParanoidQ8N0W7.
OMAKPCNELQ.
PhylomeDBQ8N0W7.
TreeFamTF338231.

Gene expression databases

BgeeQ8N0W7.
CleanExHS_FMR1NB.
GenevestigatorQ8N0W7.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi158521.
NextBio87763.
PROQ8N0W7.

Entry information

Entry nameFMR1N_HUMAN
AccessionPrimary (citable) accession number: Q8N0W7
Secondary accession number(s): D3DWT3
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 82 of the entry and version 1 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

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 X

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