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MACO1 macoilin 1 [ Homo sapiens (human) ]

Gene ID: 55219, updated on 4-Jul-2021

Summary

Official Symbol
MACO1provided by HGNC
Official Full Name
macoilin 1provided by HGNC
Primary source
HGNC:HGNC:25572
See related
Ensembl:ENSG00000204178 MIM:610301
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
Expression
Ubiquitous expression in testis (RPKM 13.0), bone marrow (RPKM 10.8) and 25 other tissues See more
Orthologs
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Genomic context

See MACO1 in Genome Data Viewer
Location:
1p36.11; 1p36.11
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (25430897..25500209)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25757388..25826700)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 50A Neighboring gene Rh blood group CcEe antigens Neighboring gene succinate dehydrogenase complex subunit D pseudogene 7 Neighboring gene low density lipoprotein receptor adaptor protein 1 Neighboring gene mannosidase alpha class 1C member 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10747, FLJ23007

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in neuronal signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 integral component of membrane 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
PubMed 
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
PubMed 
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

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)

  1. NM_001282564.2NP_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:2435
    Macoilin; Transmembrane protein
  2. NM_018202.6NP_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
    Q8N5G2
    Related
    ENSP00000363463.4, ENST00000374343.5
    Conserved Domains (1) summary
    pfam09726
    Location:2662
    Macoilin; Macoilin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    25430897..25500209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245931.2XP_005245988.1  macoilin isoform X1

    See identical proteins and their annotated locations for XP_005245988.1

    Conserved Domains (1) summary
    pfam09726
    Location:2539
    Macoilin; Macoilin family
  2. XM_011541704.3XP_011540006.1  macoilin isoform X2

    See identical proteins and their annotated locations for XP_011540006.1

    Conserved Domains (1) summary
    pfam09726
    Location:1485
    Macoilin; Transmembrane protein
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