Format

Send to:

Choose Destination

AHSP alpha hemoglobin stabilizing protein [ Homo sapiens (human) ]

Gene ID: 51327, updated on 15-Apr-2019

Summary

Official Symbol
AHSPprovided by HGNC
Official Full Name
alpha hemoglobin stabilizing proteinprovided by HGNC
Primary source
HGNC:HGNC:18075
See related
Ensembl:ENSG00000169877 MIM:605821
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
EDRF; ERAF
Summary
This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression
Restricted expression toward bone marrow (RPKM 331.1) See more
Orthologs

Genomic context

See AHSP in Genome Data Viewer
Location:
16p11.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (31527852..31528804)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31539203..31540125)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene transforming growth factor beta 1 induced transcript 1 Neighboring gene solute carrier family 5 member 2 Neighboring gene chromosome 16 open reading frame 58 Neighboring gene long intergenic non-protein coding RNA 2190 Neighboring gene vomeronasal 1 receptor 64 pseudogene Neighboring gene vomeronasal 1 receptor 65 pseudogene

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 FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of alpha hemoglobin stabilizing protein (AHSP) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hemoglobin binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
erythrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemoglobin metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
hemopoiesis NAS
Non-traceable Author Statement
more info
PubMed 
protein folding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein stabilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemoglobin complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
alpha-hemoglobin-stabilizing protein
Names
alpha hemoglobin stabilising protein
erythroid differentiation associated factor
erythroid differentiation-related factor

NCBI Reference Sequences (RefSeq)

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_046852.1 RefSeqGene

    Range
    5001..5953
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318221.1NP_001305150.1  alpha-hemoglobin-stabilizing protein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC106730, AF112995, BG943964, BG944022, H94920
    Consensus CDS
    CCDS10716.1
    UniProtKB/Swiss-Prot
    Q9NZD4
    UniProtKB/TrEMBL
    Q549J4
    Conserved Domains (1) summary
    pfam09236
    Location:591
    AHSP; Alpha-haemoglobin stabilizing protein
  2. NM_001318222.1NP_001305151.1  alpha-hemoglobin-stabilizing protein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AF112995, BG944022, R29304
    Consensus CDS
    CCDS10716.1
    UniProtKB/Swiss-Prot
    Q9NZD4
    UniProtKB/TrEMBL
    Q549J4
    Conserved Domains (1) summary
    pfam09236
    Location:591
    AHSP; Alpha-haemoglobin stabilizing protein
  3. NM_016633.4NP_057717.1  alpha-hemoglobin-stabilizing protein

    See identical proteins and their annotated locations for NP_057717.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AF112995, BG940214
    Consensus CDS
    CCDS10716.1
    UniProtKB/Swiss-Prot
    Q9NZD4
    UniProtKB/TrEMBL
    Q549J4
    Related
    ENSP00000307199.4, ENST00000302312.9
    Conserved Domains (1) summary
    pfam09236
    Location:591
    AHSP; Alpha-haemoglobin stabilizing protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    31527852..31528804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center