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O96002

- TM257_HUMAN

UniProt

O96002 - TM257_HUMAN

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Protein

Transmembrane protein 257

Gene

TMEM257

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 257
Gene namesi
Name:TMEM257
Synonyms:CXorf1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:2562. TMEM257.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei23 – 4321HelicalSequence AnalysisAdd
BLAST
Transmembranei58 – 7821HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27059.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 111111Transmembrane protein 257PRO_0000079729Add
BLAST

Proteomic databases

PRIDEiO96002.

PTM databases

PhosphoSiteiO96002.

Expressioni

Tissue specificityi

Brain. In the hippocampus it is mainly localized in the granular-cell layer of the dentate gyrus and in the CA2-CA3 subfields of Ammon's horn.1 Publication

Gene expression databases

BgeeiO96002.
CleanExiHS_CXorf1.
GenevestigatoriO96002.

Organism-specific databases

HPAiHPA028857.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000386149.

Structurei

3D structure databases

ProteinModelPortaliO96002.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG301986.
GeneTreeiENSGT00510000055407.
HOGENOMiHOG000112096.
InParanoidiO96002.
OMAiRALPGTY.
OrthoDBiEOG71RXMZ.
PhylomeDBiO96002.

Sequencei

Sequence statusi: Complete.

O96002-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MYSRLFYLKS SYIIYFEPLF SNAIINILSF INSLASPLTI FCFALSAQAL
60 70 80 90 100
STIFYFRIFI FIFHSWILLF HFYFTCSFKT YEHQHSKMVP AYRMQSPRAL
110
PRTYLYVWPY K
Length:111
Mass (Da):13,452
Last modified:May 1, 1999 - v1
Checksum:i5EFA883C1329A522
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361S → A.
Corresponds to variant rs3752359 [ dbSNP | Ensembl ].
VAR_033766

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y10607 Genomic DNA. Translation: CAA71614.1.
Y08902 mRNA. Translation: CAA70110.1.
AL109653 Genomic DNA. No translation available.
BC113600 mRNA. Translation: AAI13601.1.
BC113604 mRNA. Translation: AAI13605.1.
CCDSiCCDS14681.1.
RefSeqiNP_004700.1. NM_004709.2.
UniGeneiHs.106688.

Genome annotation databases

EnsembliENST00000408967; ENSP00000386149; ENSG00000221870.
GeneIDi9142.
KEGGihsa:9142.
UCSCiuc004fch.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y10607 Genomic DNA. Translation: CAA71614.1 .
Y08902 mRNA. Translation: CAA70110.1 .
AL109653 Genomic DNA. No translation available.
BC113600 mRNA. Translation: AAI13601.1 .
BC113604 mRNA. Translation: AAI13605.1 .
CCDSi CCDS14681.1.
RefSeqi NP_004700.1. NM_004709.2.
UniGenei Hs.106688.

3D structure databases

ProteinModelPortali O96002.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000386149.

PTM databases

PhosphoSitei O96002.

Proteomic databases

PRIDEi O96002.

Protocols and materials databases

DNASUi 9142.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000408967 ; ENSP00000386149 ; ENSG00000221870 .
GeneIDi 9142.
KEGGi hsa:9142.
UCSCi uc004fch.3. human.

Organism-specific databases

CTDi 9142.
GeneCardsi GC0XP144909.
H-InvDB HIX0056114.
HGNCi HGNC:2562. TMEM257.
HPAi HPA028857.
MIMi 300565. gene.
neXtProti NX_O96002.
PharmGKBi PA27059.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG301986.
GeneTreei ENSGT00510000055407.
HOGENOMi HOG000112096.
InParanoidi O96002.
OMAi RALPGTY.
OrthoDBi EOG71RXMZ.
PhylomeDBi O96002.

Miscellaneous databases

GenomeRNAii 9142.
NextBioi 34287.
SOURCEi Search...

Gene expression databases

Bgeei O96002.
CleanExi HS_CXorf1.
Genevestigatori O96002.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of CXorf1, a novel intronless gene in Xq27.3 expressed in human hippocampus."
    Redolfi E., Montagna C., Mumm S., Affer M., Susani L., Reinbold R., Hol F., Vezzoni P., Cimino M., Zucchi I.
    DNA Cell Biol. 17:1009-1016(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY.
    Tissue: Brain.
  2. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(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].
    Tissue: Brain.

Entry informationi

Entry nameiTM257_HUMAN
AccessioniPrimary (citable) accession number: O96002
Secondary accession number(s): Q14CW0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: October 29, 2014
This is version 87 of the entry and version 1 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 X
    Human chromosome X: 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

External Data

Dasty 3