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HBM hemoglobin subunit mu [ Homo sapiens (human) ]

Gene ID: 3042, updated on 2-Mar-2021

Summary

Official Symbol
HBMprovided by HGNC
Official Full Name
hemoglobin subunit muprovided by HGNC
Primary source
HGNC:HGNC:4826
See related
Ensembl:ENSG00000206177 MIM:609639
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
HBK; HBAP2
Summary
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

See HBM in Genome Data Viewer
Location:
16p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (165978..166764)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (215977..216763)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107983982 Neighboring gene hemoglobin subunit zeta pseudogene 1 Neighboring gene hemoglobin subunit alpha pseudogene 1 Neighboring gene hemoglobin subunit alpha 2 recombination region Neighboring gene hemoglobin subunit alpha 2

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to haptoglobin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
organic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
hydrogen peroxide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxygen transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
haptoglobin-hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
hemoglobin subunit mu
Names
alpha globin pseudogene 2
hemoglobin mu chain
hemoglobin, alpha pseudogene 2
hemoglobin, mu
mu-globin

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_000006.1 RefSeqGene

    Range
    26837..27631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001003938.4NP_001003938.1  hemoglobin subunit mu

    See identical proteins and their annotated locations for NP_001003938.1

    Status: REVIEWED

    Source sequence(s)
    AY698022, BC035682
    Consensus CDS
    CCDS32347.1
    UniProtKB/Swiss-Prot
    Q6B0K9
    UniProtKB/TrEMBL
    A0A1K0FU50
    Related
    ENSP00000349270.3, ENST00000356815.4
    Conserved Domains (1) summary
    cd08927
    Location:2141
    Hb-alpha_like; Hemoglobin alpha, zeta, mu, theta, and related Hb subunits

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    165978..166764
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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