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Q6P2H8

- TMM53_HUMAN

UniProt

Q6P2H8 - TMM53_HUMAN

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Protein

Transmembrane protein 53

Gene

TMEM53

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 53
Gene namesi
Name:TMEM53
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:26186. TMEM53.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei171 – 19121HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670769.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 277277Transmembrane protein 53PRO_0000284118Add
BLAST

Proteomic databases

PaxDbiQ6P2H8.
PRIDEiQ6P2H8.

PTM databases

PhosphoSiteiQ6P2H8.

Expressioni

Gene expression databases

BgeeiQ6P2H8.
CleanExiHS_TMEM53.
ExpressionAtlasiQ6P2H8. baseline and differential.
GenevestigatoriQ6P2H8.

Organism-specific databases

HPAiHPA021134.

Interactioni

Protein-protein interaction databases

BioGridi122767. 2 interactions.
STRINGi9606.ENSP00000361311.

Structurei

3D structure databases

ProteinModelPortaliQ6P2H8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM53 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG241561.
GeneTreeiENSGT00390000000715.
HOGENOMiHOG000230532.
HOVERGENiHBG056173.
InParanoidiQ6P2H8.
OMAiLYPLTKY.
PhylomeDBiQ6P2H8.
TreeFamiTF313176.

Family and domain databases

Gene3Di3.40.50.1820. 2 hits.
InterProiIPR029058. AB_hydrolase.
IPR008547. DUF829_TMEM53.
[Graphical view]
PANTHERiPTHR12265. PTHR12265. 1 hit.
PfamiPF05705. DUF829. 1 hit.
[Graphical view]
SUPFAMiSSF53474. SSF53474. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6P2H8-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MASAELDYTI EIPDQPCWSQ KNSPSPGGKE AETRQPVVIL LGWGGCKDKN
60 70 80 90 100
LAKYSAIYHK RGCIVIRYTA PWHMVFFSES LGIPSLRVLA QKLLELLFDY
110 120 130 140 150
EIEKEPLLFH VFSNGGVMLY RYVLELLQTR RFCRLRVVGT IFDSAPGDSN
160 170 180 190 200
LVGALRALAA ILERRAAMLR LLLLVAFALV VVLFHVLLAP ITALFHTHFY
210 220 230 240 250
DRLQDAGSRW PELYLYSRAD EVVLARDIER MVEARLARRV LARSVDFVSS
260 270
AHVSHLRDYP TYYTSLCVDF MRNCVRC
Length:277
Mass (Da):31,630
Last modified:July 5, 2004 - v1
Checksum:i487C46C92F78629E
GO
Isoform 2 (identifier: Q6P2H8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Show »
Length:204
Mass (Da):23,473
Checksum:iFCF38205BC00451C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti177 – 1771F → L in BAB15317. (PubMed:14702039)Curated
Sequence conflicti184 – 1841F → L in CAG33629. 1 PublicationCurated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7373Missing in isoform 2. 2 PublicationsVSP_024446Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026006 mRNA. Translation: BAB15317.1.
AK296548 mRNA. Translation: BAG59172.1.
CR457348 mRNA. Translation: CAG33629.1.
AL832539 mRNA. Translation: CAI46125.1.
AL122004 Genomic DNA. Translation: CAI22342.1.
CH471059 Genomic DNA. Translation: EAX07029.1.
BC064520 mRNA. Translation: AAH64520.1.
CCDSiCCDS511.1. [Q6P2H8-1]
RefSeqiNP_001287675.1. NM_001300746.1. [Q6P2H8-2]
NP_001287676.1. NM_001300747.1.
NP_001287677.1. NM_001300748.1.
NP_078863.2. NM_024587.3. [Q6P2H8-1]
UniGeneiHs.22157.

Genome annotation databases

EnsembliENST00000372237; ENSP00000361311; ENSG00000126106. [Q6P2H8-1]
GeneIDi79639.
KEGGihsa:79639.
UCSCiuc001cmc.3. human. [Q6P2H8-1]

Polymorphism databases

DMDMi74758243.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026006 mRNA. Translation: BAB15317.1 .
AK296548 mRNA. Translation: BAG59172.1 .
CR457348 mRNA. Translation: CAG33629.1 .
AL832539 mRNA. Translation: CAI46125.1 .
AL122004 Genomic DNA. Translation: CAI22342.1 .
CH471059 Genomic DNA. Translation: EAX07029.1 .
BC064520 mRNA. Translation: AAH64520.1 .
CCDSi CCDS511.1. [Q6P2H8-1 ]
RefSeqi NP_001287675.1. NM_001300746.1. [Q6P2H8-2 ]
NP_001287676.1. NM_001300747.1.
NP_001287677.1. NM_001300748.1.
NP_078863.2. NM_024587.3. [Q6P2H8-1 ]
UniGenei Hs.22157.

3D structure databases

ProteinModelPortali Q6P2H8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122767. 2 interactions.
STRINGi 9606.ENSP00000361311.

PTM databases

PhosphoSitei Q6P2H8.

Polymorphism databases

DMDMi 74758243.

Proteomic databases

PaxDbi Q6P2H8.
PRIDEi Q6P2H8.

Protocols and materials databases

DNASUi 79639.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372237 ; ENSP00000361311 ; ENSG00000126106 . [Q6P2H8-1 ]
GeneIDi 79639.
KEGGi hsa:79639.
UCSCi uc001cmc.3. human. [Q6P2H8-1 ]

Organism-specific databases

CTDi 79639.
GeneCardsi GC01M045100.
HGNCi HGNC:26186. TMEM53.
HPAi HPA021134.
neXtProti NX_Q6P2H8.
PharmGKBi PA142670769.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241561.
GeneTreei ENSGT00390000000715.
HOGENOMi HOG000230532.
HOVERGENi HBG056173.
InParanoidi Q6P2H8.
OMAi LYPLTKY.
PhylomeDBi Q6P2H8.
TreeFami TF313176.

Miscellaneous databases

ChiTaRSi TMEM53. human.
GenomeRNAii 79639.
NextBioi 68757.
PROi Q6P2H8.

Gene expression databases

Bgeei Q6P2H8.
CleanExi HS_TMEM53.
ExpressionAtlasi Q6P2H8. baseline and differential.
Genevestigatori Q6P2H8.

Family and domain databases

Gene3Di 3.40.50.1820. 2 hits.
InterProi IPR029058. AB_hydrolase.
IPR008547. DUF829_TMEM53.
[Graphical view ]
PANTHERi PTHR12265. PTHR12265. 1 hit.
Pfami PF05705. DUF829. 1 hit.
[Graphical view ]
SUPFAMi SSF53474. SSF53474. 2 hits.
ProtoNeti Search...

Publicationsi

  1. "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] (ISOFORMS 1 AND 2).
    Tissue: Kidney epithelium and Thalamus.
  2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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).
    Tissue: Eye.

Entry informationi

Entry nameiTMM53_HUMAN
AccessioniPrimary (citable) accession number: Q6P2H8
Secondary accession number(s): B4DKG0
, Q5JPH2, Q6IA07, Q9H6E2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: July 5, 2004
Last modified: November 26, 2014
This is version 88 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3