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Q8N5G2

- MACOI_HUMAN

UniProt

Q8N5G2 - MACOI_HUMAN

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Protein

Macoilin

Gene

TMEM57

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

GO - Biological processi

  1. brain development Source: Ensembl
Complete GO annotation...

Protein family/group databases

TCDBi8.A.38.1.1. the animal macoilin regulator of ion channels (macoilin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Macoilin
Alternative name(s):
Transmembrane protein 57
Gene namesi
Name:TMEM57
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:25572. TMEM57.

Subcellular locationi

Nucleus membrane By similarity; Multi-pass membrane protein By similarity. Cell projectionaxon By similarity
Note: Detected in the nucleus membrane of non-neuronal cells and in axonal outgrowths of neuronal cells.By similarity

GO - Cellular componenti

  1. axon Source: Ensembl
  2. integral component of membrane Source: UniProtKB-KW
  3. neuron projection terminus Source: BHF-UCL
  4. nuclear membrane Source: BHF-UCL
  5. nucleus Source: BHF-UCL
  6. synapse Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670773.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 664664MacoilinPRO_0000070266Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi324 – 3241N-linked (GlcNAc...)Sequence Analysis
Modified residuei332 – 3321Phosphoserine3 Publications
Glycosylationi340 – 3401N-linked (GlcNAc...)Sequence Analysis
Glycosylationi452 – 4521N-linked (GlcNAc...)Sequence Analysis
Modified residuei631 – 6311Phosphoserine1 Publication
Modified residuei634 – 6341Phosphoserine1 Publication
Glycosylationi655 – 6551N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ8N5G2.
PaxDbiQ8N5G2.
PRIDEiQ8N5G2.

PTM databases

PhosphoSiteiQ8N5G2.

Expressioni

Gene expression databases

BgeeiQ8N5G2.
CleanExiHS_TMEM57.
ExpressionAtlasiQ8N5G2. baseline and differential.
GenevestigatoriQ8N5G2.

Organism-specific databases

HPAiHPA019680.

Interactioni

Protein-protein interaction databases

BioGridi120515. 5 interactions.
IntActiQ8N5G2. 5 interactions.
MINTiMINT-1185124.
STRINGi9606.ENSP00000363463.

Structurei

3D structure databases

ProteinModelPortaliQ8N5G2.
SMRiQ8N5G2. Positions 386-413.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei28 – 4821HelicalSequence AnalysisAdd
BLAST
Transmembranei75 – 9521HelicalSequence AnalysisAdd
BLAST
Transmembranei120 – 14021HelicalSequence AnalysisAdd
BLAST
Transmembranei154 – 17421HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the macoilin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG294495.
GeneTreeiENSGT00390000016613.
HOGENOMiHOG000049147.
HOVERGENiHBG059955.
InParanoidiQ8N5G2.
OMAiVQELHKY.
OrthoDBiEOG7K0ZBP.
PhylomeDBiQ8N5G2.
TreeFamiTF324023.

Family and domain databases

InterProiIPR019130. Macoilin.
[Graphical view]
PfamiPF09726. Macoilin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N5G2-1) [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
MKRRNADCSK LRRPLKRNRI TEGIYGSTFL YLKFLVVWAL VLLADFVLEF
60 70 80 90 100
RFEYLWPFWL FIRSVYDSFR YQGLAFSVFF VCVAFTSNII CLLFIPIQWL
110 120 130 140 150
FFAASTYVWV QYVWHTERGV CLPTVSLWIL FVYIEAAIRF KDLKNFHVDL
160 170 180 190 200
CRPFAAHCIG YPVVTLGFGF KSYVSYKMRL RKQKEVQKEN EFYMQLLQQA
210 220 230 240 250
LPPEQQMLQK QEKEAEEAAK GLPDMDSSIL IHHNGGIPAN KKLSTTLPEI
260 270 280 290 300
EYREKGKEKD KDAKKHNLGI NNNNILQPVD SKIQEIEYME NHINSKRLNN
310 320 330 340 350
DLVGSTENLL KEDSCTASSK NYKNASGVVN SSPRSHSATN GSIPSSSSKN
360 370 380 390 400
EKKQKCTSKS PSTHKDLMEN CIPNNQLSKP DALVRLEQDI KKLKADLQAS
410 420 430 440 450
RQVEQELRSQ ISSLSSTERG IRSEMGQLRQ ENELLQNKLH NAVQMKQKDK
460 470 480 490 500
QNISQLEKKL KAEQEARSFV EKQLMEEKKR KKLEEATAAR AVAFAAASRG
510 520 530 540 550
ECTETLRNRI RELEAEGKKL TMDMKVKEDQ IRELELKVQE LRKYKENEKD
560 570 580 590 600
TEVLMSALSA MQDKTQHLEN SLSAETRIKL DLFSALGDAK RQLEIAQGQI
610 620 630 640 650
LQKDQEIKDL KQKIAEVMAV MPSITYSAAT SPLSPVSPHY SSKFVETSPS
660
GLDPNASVYQ PLKK
Length:664
Mass (Da):76,178
Last modified:October 1, 2002 - v1
Checksum:iC0F16B66E13AC281
GO
Isoform 2 (identifier: Q8N5G2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     27-384: Missing.

Show »
Length:306
Mass (Da):35,026
Checksum:i7E4942B918C8C88A
GO
Isoform 3 (identifier: Q8N5G2-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     158-158: C → W
     159-385: Missing.

Show »
Length:437
Mass (Da):50,791
Checksum:i91381E4E67C52F25
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti577 – 5771R → I in BAA91786. (PubMed:14702039)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei27 – 384358Missing in isoform 2. 1 PublicationVSP_017203Add
BLAST
Alternative sequencei158 – 1581C → W in isoform 3. 1 PublicationVSP_017204
Alternative sequencei159 – 385227Missing in isoform 3. 1 PublicationVSP_017205Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY845015 mRNA. Translation: AAX11913.1.
AY845036 mRNA. Translation: AAX11934.1.
AY845035 mRNA. Translation: AAX11933.1.
AK001609 mRNA. Translation: BAA91786.1.
AL031284, BX572623 Genomic DNA. Translation: CAM12861.1.
BX572623, AL031284 Genomic DNA. Translation: CAM12862.1.
CH471059 Genomic DNA. Translation: EAX07876.1.
BC032427 mRNA. Translation: AAH32427.1.
CCDSiCCDS30638.1. [Q8N5G2-1]
CCDS60034.1. [Q8N5G2-3]
RefSeqiNP_001269493.1. NM_001282564.1. [Q8N5G2-3]
NP_060672.2. NM_018202.5. [Q8N5G2-1]
UniGeneiHs.189782.

Genome annotation databases

EnsembliENST00000374343; ENSP00000363463; ENSG00000204178. [Q8N5G2-1]
ENST00000399766; ENSP00000382668; ENSG00000204178. [Q8N5G2-3]
GeneIDi55219.
KEGGihsa:55219.
UCSCiuc001bkk.3. human. [Q8N5G2-1]
uc009vru.3. human. [Q8N5G2-3]
uc009vrv.3. human. [Q8N5G2-2]

Polymorphism databases

DMDMi74728992.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY845015 mRNA. Translation: AAX11913.1 .
AY845036 mRNA. Translation: AAX11934.1 .
AY845035 mRNA. Translation: AAX11933.1 .
AK001609 mRNA. Translation: BAA91786.1 .
AL031284 , BX572623 Genomic DNA. Translation: CAM12861.1 .
BX572623 , AL031284 Genomic DNA. Translation: CAM12862.1 .
CH471059 Genomic DNA. Translation: EAX07876.1 .
BC032427 mRNA. Translation: AAH32427.1 .
CCDSi CCDS30638.1. [Q8N5G2-1 ]
CCDS60034.1. [Q8N5G2-3 ]
RefSeqi NP_001269493.1. NM_001282564.1. [Q8N5G2-3 ]
NP_060672.2. NM_018202.5. [Q8N5G2-1 ]
UniGenei Hs.189782.

3D structure databases

ProteinModelPortali Q8N5G2.
SMRi Q8N5G2. Positions 386-413.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120515. 5 interactions.
IntActi Q8N5G2. 5 interactions.
MINTi MINT-1185124.
STRINGi 9606.ENSP00000363463.

Protein family/group databases

TCDBi 8.A.38.1.1. the animal macoilin regulator of ion channels (macoilin) family.

PTM databases

PhosphoSitei Q8N5G2.

Polymorphism databases

DMDMi 74728992.

Proteomic databases

MaxQBi Q8N5G2.
PaxDbi Q8N5G2.
PRIDEi Q8N5G2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000374343 ; ENSP00000363463 ; ENSG00000204178 . [Q8N5G2-1 ]
ENST00000399766 ; ENSP00000382668 ; ENSG00000204178 . [Q8N5G2-3 ]
GeneIDi 55219.
KEGGi hsa:55219.
UCSCi uc001bkk.3. human. [Q8N5G2-1 ]
uc009vru.3. human. [Q8N5G2-3 ]
uc009vrv.3. human. [Q8N5G2-2 ]

Organism-specific databases

CTDi 55219.
GeneCardsi GC01P025758.
HGNCi HGNC:25572. TMEM57.
HPAi HPA019680.
MIMi 610301. gene.
neXtProti NX_Q8N5G2.
PharmGKBi PA142670773.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG294495.
GeneTreei ENSGT00390000016613.
HOGENOMi HOG000049147.
HOVERGENi HBG059955.
InParanoidi Q8N5G2.
OMAi VQELHKY.
OrthoDBi EOG7K0ZBP.
PhylomeDBi Q8N5G2.
TreeFami TF324023.

Miscellaneous databases

ChiTaRSi TMEM57. human.
GenomeRNAii 55219.
NextBioi 59192.
PROi Q8N5G2.
SOURCEi Search...

Gene expression databases

Bgeei Q8N5G2.
CleanExi HS_TMEM57.
ExpressionAtlasi Q8N5G2. baseline and differential.
Genevestigatori Q8N5G2.

Family and domain databases

InterProi IPR019130. Macoilin.
[Graphical view ]
Pfami PF09726. Macoilin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of macoilin as a novel membrane-associated coiled-coil tetraspanin protein."
    Huang C.-H., Peng J., Ye T., Chen Y.
    Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
  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).
  3. "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].
  4. 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).
    Tissue: Brain.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-332 AND SER-631, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-332 AND SER-634, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  9. "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-332, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiMACOI_HUMAN
AccessioniPrimary (citable) accession number: Q8N5G2
Secondary accession number(s): B1AK00
, Q2TLX5, Q2TLX6, Q9NVG6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 90 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3