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MAB21L3 mab-21 like 3 [ Homo sapiens (human) ]

Gene ID: 126868, updated on 7-Apr-2024

Summary

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Official Symbol
MAB21L3provided by HGNC
Official Full Name
mab-21 like 3provided by HGNC
Primary source
HGNC:HGNC:26787
See related
Ensembl:ENSG00000173212 AllianceGenome:HGNC:26787
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
D5; C1orf161
Expression
Biased expression in esophagus (RPKM 2.5), skin (RPKM 1.9) and 7 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1p13.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (116111399..116138149)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (116119359..116146123)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (116654020..116680770)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:116470749-116471250 Neighboring gene long intergenic non-protein coding RNA 1649 Neighboring gene NANOG hESC enhancer GRCh37_chr1:116483799-116484300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1225 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:116531140-116531301 Neighboring gene solute carrier family 22 member 15 Neighboring gene NANOG hESC enhancer GRCh37_chr1:116590670-116591171 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:116609321-116610520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1556 Neighboring gene uncharacterized LOC105378918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1557 Neighboring gene Sharpr-MPRA regulatory region 11424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1227 Neighboring gene uncharacterized LOC124904384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1558 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:116712258-116712441 Neighboring gene Sharpr-MPRA regulatory region 10090 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:116773350-116773887 Neighboring gene uncharacterized LOC105378919

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
  2. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ38716

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
protein mab-21-like 3
Names
DANGER family member 5

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_152367.3 → NP_689580.2  protein mab-21-like 3

    See identical proteins and their annotated locations for NP_689580.2

    Status: VALIDATED

    Source sequence(s)
    AK096035, AL121982
    Consensus CDS
    CCDS886.1
    UniProtKB/Swiss-Prot
    Q5TDL7, Q8N8X9
    Related
    ENSP00000358512.3, ENST00000369500.4
    Conserved Domains (1) summary
    pfam03281
    Location:58 → 351
    Mab-21; Mab-21 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    116111399..116138149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444823.1 → XP_047300779.1  protein mab-21-like 3 isoform X1

    UniProtKB/Swiss-Prot
    Q5TDL7, Q8N8X9
    Related
    ENSP00000506754.1, ENST00000684484.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    116119359..116146123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334277.1 → XP_054190252.1  protein mab-21-like 3 isoform X1

    UniProtKB/Swiss-Prot
    Q5TDL7, Q8N8X9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N8X9.2 GenPept UniProtKB/Swiss-Prot:Q8N8X9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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