MACO1

Functionⁱ

Plays a role in the regulation of neuronal activity.1 Publication

GO - Biological processⁱ

brain development Source: Ensembl
neuronal signal transduction
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 21589894

View the complete GO annotation on QuickGO ...

Protein family/group databases

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

TCDBⁱ

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

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Macoilin1 Publication Alternative name(s): Macoilin-1Imported Transmembrane protein 57
Gene namesⁱ	Name:MACO1Imported Synonyms:TMEM57Imported
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000204178.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:25572 MACO1
MIMⁱ	610301 gene
neXtProtⁱ	NX_Q8N5G2

Topology

Feature key	Position(s)	DescriptionActions	Length
Transmembraneⁱ	28 – 48	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	75 – 95	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	120 – 140	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	154 – 174	HelicalSequence analysisAdd BLAST	21

Keywords - Cellular componentⁱ

Cell projection, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	55219
Open Targets More...OpenTargetsⁱ	ENSG00000204178
PharmGKBⁱ	PA142670773

Polymorphism and mutation databases

DMDMⁱ	74728992

DMDMⁱ

74728992

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000070266	1 – 664	MacoilinAdd BLAST		664

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	305	PhosphoserineCombined sources	1
Glycosylationⁱ	324	N-linked (GlcNAc...) asparagineSequence analysis	1
Modified residueⁱ	332	PhosphoserineCombined sources	1
Glycosylationⁱ	340	N-linked (GlcNAc...) asparagineSequence analysis	1
Glycosylationⁱ	452	N-linked (GlcNAc...) asparagineSequence analysis	1
Modified residueⁱ	631	PhosphoserineCombined sources	1
Modified residueⁱ	634	PhosphoserineCombined sources	1
Glycosylationⁱ	655	N-linked (GlcNAc...) asparagineSequence analysis	1

Keywords - PTMⁱ

Glycoprotein, Phosphoprotein

Proteomic databases

EPDⁱ	Q8N5G2
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q8N5G2
PaxDbⁱ	Q8N5G2
PeptideAtlas More...PeptideAtlasⁱ	Q8N5G2
PRIDEⁱ	Q8N5G2
ProteomicsDBⁱ	72049 72050 [Q8N5G2-2] 72051 [Q8N5G2-3]

PTM databases

iPTMnetⁱ	Q8N5G2
PhosphoSitePlusⁱ	Q8N5G2

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000204178 Expressed in 211 organ(s), highest expression level in forebrain
CleanExⁱ	HS_TMEM57
Genevisibleⁱ	Q8N5G2 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA019680

HPAⁱ

HPA019680

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
HOXA1	P49639	4	EBI-2683507,EBI-740785
LCE3A	Q5TA76	4	EBI-2683507,EBI-9394625

Protein-protein interaction databases

BioGridⁱ	120515, 24 interactors
IntActⁱ	Q8N5G2, 36 interactors
Molecular INTeraction database More...MINTⁱ	Q8N5G2
STRINGⁱ	9606.ENSP00000363463

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q8N5G2
SMRⁱ	Q8N5G2
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the macoilin family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG1821 Eukaryota ENOG410XRFG LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000016613
HOGENOMⁱ	HOG000049147
HOVERGENⁱ	HBG059955
InParanoidⁱ	Q8N5G2
OMAⁱ	SAHKDLM
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G04NF
PhylomeDBⁱ	Q8N5G2
TreeFamⁱ	TF324023

Family and domain databases

InterProⁱ	View protein in InterPro IPR019130 Macoilin
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF09726 Macoilin, 1 hit

Sequences (3)ⁱ

Sequence statusⁱ: Complete.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

Isoform 1 (identifier: Q8N5G2-1) [UniParc]FASTA Add 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]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MKRRNADCSK LRRPLKRNRI TEGIYGRLEQ DIKKLKADLQ ASRQVEQELR 
        60         70         80         90        100
SQISSLSSTE RGIRSEMGQL RQENELLQNK LHNAVQMKQK DKQNISQLEK 
       110        120        130        140        150
KLKAEQEARS FVEKQLMEEK KRKKLEEATA ARAVAFAAAS RGECTETLRN 
       160        170        180        190        200
RIRELEAEGK KLTMDMKVKE DQIRELELKV QELRKYKENE KDTEVLMSAL 
       210        220        230        240        250
SAMQDKTQHL ENSLSAETRI KLDLFSALGD AKRQLEIAQG QILQKDQEIK 
       260        270        280        290        300
DLKQKIAEVM AVMPSITYSA ATSPLSPVSP HYSSKFVETS PSGLDPNASV 

YQPLKK

Show »

Length:306

Mass (Da):35,026

Checksum:ⁱ7E4942B918C8C88A

GO

Isoform 3 (identifier: Q8N5G2-3) [UniParc]FASTA Add to basket

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

« 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
CRPFAAHWLE QDIKKLKADL QASRQVEQEL RSQISSLSST ERGIRSEMGQ 
       210        220        230        240        250
LRQENELLQN KLHNAVQMKQ KDKQNISQLE KKLKAEQEAR SFVEKQLMEE 
       260        270        280        290        300
KKRKKLEEAT AARAVAFAAA SRGECTETLR NRIRELEAEG KKLTMDMKVK 
       310        320        330        340        350
EDQIRELELK VQELRKYKEN EKDTEVLMSA LSAMQDKTQH LENSLSAETR 
       360        370        380        390        400
IKLDLFSALG DAKRQLEIAQ GQILQKDQEI KDLKQKIAEV MAVMPSITYS 
       410        420        430 
AATSPLSPVS PHYSSKFVET SPSGLDPNAS VYQPLKK

Show »

Length:437

Mass (Da):50,791

Checksum:ⁱ91381E4E67C52F25

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	577	R → I in BAA91786 (PubMed:14702039).Curated		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_017203	27 – 384	Missing in isoform 2. 1 PublicationAdd BLAST	358
Alternative sequenceⁱVSP_017204	158	C → W in isoform 3. 1 Publication	1
Alternative sequenceⁱVSP_017205	159 – 385	Missing in isoform 3. 1 PublicationAdd BLAST	227

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AY845015 mRNA Translation: AAX11913.1 AY845036 mRNA Translation: AAX11934.1 AY845035 mRNA Translation: AAX11933.1 AK001609 mRNA Translation: BAA91786.1 AL031284 Genomic DNA No translation available. BX572623 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX07876.1 BC032427 mRNA Translation: AAH32427.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS30638.1 [Q8N5G2-1] CCDS60034.1 [Q8N5G2-3]
NCBI Reference Sequences More...RefSeqⁱ	NP_001269493.1, NM_001282564.1 [Q8N5G2-3] NP_060672.2, NM_018202.5 [Q8N5G2-1]
UniGeneⁱ	Hs.189782

Genome annotation databases

Ensemblⁱ	ENST00000374343; ENSP00000363463; ENSG00000204178 [Q8N5G2-1] ENST00000399766; ENSP00000382668; ENSG00000204178 [Q8N5G2-3]
GeneIDⁱ	55219
KEGGⁱ	hsa:55219
UCSC genome browser More...UCSCⁱ	uc001bkk.5 human [Q8N5G2-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8N5G2	Macoilin		CANLF		664	UniRef100_Q8N5G2
Macoilin		MACMU		664
Macoilin		PANTR		664
Macoilin 1		PONAB		664
Macoilin 1		Cebus capucinus imitator		664
+10
Q8N5G2-3	Macoilin		PANTR		437	UniRef100_A0A2I3T2F1
Macoilin 1		CALJA		437
Macoilin		MACMU		437
Macoilin 1		Cebus capucinus imitator		437
macoilin isoform X2		Enhydra lutris kenyoni		437
+13

Protein	Similar proteins		Species	Score	Length	Source
Q8N5G2	Macoilin		CANLF		664	UniRef90_Q8N5G2
Macoilin		BOVIN		664
Macoilin		MACMU		664
Macoilin		MOUSE		664
Macoilin		PANTR		664
+145
Q8N5G2-2	Isoform 2 of Macoilin		PANTR		306	UniRef90_Q8N5G2-2
Macoilin (Fragment)		ESCRO		323
macoilin isoform X3		TURTR		306
Isoform 2 of Macoilin		MACMU		306
Uncharacterized protein (Fragment)		NEOLE		303
+4
Q8N5G2-3	Macoilin 1		NOMLE		437	UniRef90_A0A2I3HFI3
Macoilin		PANTR		437
Macoilin 1		CALJA		437
Macoilin		MACMU		437
Macoilin 1		Cebus capucinus imitator		437
+26

Protein	Similar proteins		Species	Score	Length	Source
Q8N5G2	Macoilin		CANLF		664	UniRef50_Q8N5G2
Macoilin		MOUSE		664
Macoilin		MACMU		664
Macoilin		RAT		664
Macoilin		PIG		664
+167
Q8N5G2-2	Isoform 2 of Macoilin		PANTR		306	UniRef50_Q8N5G2-2
Macoilin (Fragment)		ESCRO		323
Isoform 2 of Macoilin		MACMU		306
macoilin isoform X3		TURTR		306
Uncharacterized protein (Fragment)		NEOLE		303
+7
Q8N5G2-3	Macoilin 1		NOMLE		437	UniRef50_A0A2I3HFI3
macoilin isoform X2		ERIEU		437
Macoilin		PANTR		437
Macoilin 1		CALJA		437
Macoilin		MACMU		437
+27

Entry informationⁱ

Entry nameⁱ	MACOI_HUMAN
Accessionⁱ	Q8N5G2Primary (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:	September 12, 2018
	This is version 119 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q8N5G2 (MACOI_HUMAN)

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Macoilin

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Nucleus

Other locations

Endoplasmic reticulum

Nucleus

Other locations

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ