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MROH8 maestro heat like repeat family member 8 [ Homo sapiens (human) ]

Gene ID: 140699, updated on 19-Jul-2022

Summary

Official Symbol
MROH8provided by HGNC
Official Full Name
maestro heat like repeat family member 8provided by HGNC
Primary source
HGNC:HGNC:16125
See related
Ensembl:ENSG00000101353 AllianceGenome:HGNC:16125
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C20orf131; C20orf132
Summary
The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Annotation information
Annotation category: suggests misassembly
Expression
Broad expression in testis (RPKM 12.2), kidney (RPKM 1.8) and 17 other tissues See more
Orthologs
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Genomic context

See MROH8 in Genome Data Viewer
Location:
20q11.23
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (37101169..37179548, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38825519..38903925, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35729572..35807951, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RB transcriptional corepressor like 1 Neighboring gene RPS3A pseudogene 3 Neighboring gene RPS27A pseudogene 3 Neighboring gene ribosomal protein L13 pseudogene Neighboring gene ribophorin II Neighboring gene growth hormone releasing hormone Neighboring gene mannosidase beta like

Genomic regions, transcripts, and products

Phenotypes

EBI GWAS Catalog

Description
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36113, dJ621N11.3, dJ621N11.4, DKFZp434N0426

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein MROH8
Names
maestro heat-like repeat-containing protein family member 8

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.

Genomic

  1. NG_033795.2 RefSeqGene

    Range
    5001..83411
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152503.7NP_689716.4  protein MROH8 isoform 1

    See identical proteins and their annotated locations for NP_689716.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL136172, AL833864, BC030006
    UniProtKB/Swiss-Prot
    Q9H579
    UniProtKB/TrEMBL
    Q0P682
    Related
    ENSP00000513568.1, ENST00000343811.10
  2. NM_213631.3NP_998796.1  protein MROH8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 3' end compared to variant 1. The encoded isoform (2) is shorter with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK093432, AL136172, BC030006, BC057767
    UniProtKB/Swiss-Prot
    Q9H579
    UniProtKB/TrEMBL
    Q0P682, Q6PF12
    Related
    ENSP00000513569.1, ENST00000400440.7
  3. NM_213632.3NP_998797.2  protein MROH8 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon and differs at the 3' end compared to variant 1. The encoded isoform (3) is shorter lacking an internal protein segment and with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK093432, AL136172, BC057767
    UniProtKB/Swiss-Prot
    Q9H579
    UniProtKB/TrEMBL
    Q6PF12
    Related
    ENSP00000513570.1, ENST00000421643.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    37101169..37179548 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791812.1 Reference GRCh38.p14 PATCHES

    Range
    10642..89050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    38825519..38903925 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)