MACO1 macoilin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MACO1provided by HGNC
Official Full Name: macoilin 1provided by HGNC
Primary source: HGNC:HGNC:25572
See related: Ensembl:ENSG00000204178 MIM:610301; AllianceGenome:HGNC:25572
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TMEM57; MACOILIN
Summary: Predicted to enable microtubule binding activity. Involved in neuronal signal transduction. Located in rough endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in testis (RPKM 13.0), bone marrow (RPKM 10.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11; 1p36.11

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (25430897..25500209)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (25267240..25336586)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (25757388..25826700)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

these results indicate that PAK4 confers CDDP resistance via the activation of MEK/ERK and PI3K/Akt pathways. PAK4 and PI3K/Akt pathways can reciprocally activate each other.
Title: Polymorphism of rs873308 near the transmembrane protein 57 gene is associated with serum lipid levels.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36334 (e-PCR)
- UniSTS:24069

SHGC-74431 (e-PCR)
- UniSTS:73520

SHGC-56764 (e-PCR)
- UniSTS:22064

UniSTS:235065 (e-PCR)
- UniSTS:235065

D1S1466 (e-PCR)
- UniSTS:149662

D6S1937 (e-PCR)
- UniSTS:41673

AL034134 (e-PCR)
- UniSTS:93898

RH104185 (e-PCR)
- UniSTS:98510

AL009656 (e-PCR)
- UniSTS:74234

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IEA Inferred from Electronic Annotation more info
involved_in chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuronal signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuronal signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in neuron projection terminus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in nuclear membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in rough endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in rough endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: macoilin

Names: transmembrane protein 57

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001282564.2 → NP_001269493.1 macoilin isoform b

See identical proteins and their annotated locations for NP_001269493.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two internal exons, resulting in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AA827805, AY845035, BX572623, DB455940

Consensus CDS

CCDS60034.1

UniProtKB/Swiss-Prot

Q8N5G2

Related

ENSP00000382668.3, ENST00000399766.7

Conserved Domains (1) summary

pfam09726
Location:2 → 435

Macoilin; Macoilin family
NM_018202.6 → NP_060672.2 macoilin isoform a

See identical proteins and their annotated locations for NP_060672.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AA827805, BC032427, BX572623, DB455940

Consensus CDS

CCDS30638.1

UniProtKB/Swiss-Prot

B1AK00, Q2TLX5, Q2TLX6, Q8N5G2, Q9NVG6

Related

ENSP00000363463.4, ENST00000374343.5

Conserved Domains (1) summary

pfam09726
Location:2 → 662

Macoilin; Macoilin family