Seroatlas · Human Serome Atlas

HBS1L

HBS1-like protein

Also known as: DKFZp434g247, EF-1a, eRF3c, ERFS, HBS1, HBS1L_HUMAN, HSPC276, KIAA1038

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9Y450
Gene: HBS1L
Ensembl: ENSG00000112339
Chromosome: 6
Canonical length: 684 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nuclear bodies,Cytosol

OverviewNCBI Gene

This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]

Canonical amino-acid sequenceUniProt

684 residues, UniProt reviewed canonical sequence.

>Q9Y450|HBS1L
     1  MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED
    61  LKESSNSVSN HQLSGFDQAR LYSCLDHMRE VLGDAVPDEI LIEAVLKNKF DVQKALSGVL
   121  EQDRVQSLKD KNEATVSTGK IAKGKPVDSQ TSRSESEIVP KVAKMTVSGK KQTMGFEVPG
   181  VSSEENGHSF HTPQKGPPIE DAIASSDVLE TASKSANPPH TIQASEEQSS TPAPVKKSGK
   241  LRQQIDVKAE LEKRQGGKQL LNLVVIGHVD AGKSTLMGHM LYLLGNINKR TMHKYEQESK
   301  KAGKASFAYA WVLDETGEER ERGVTMDVGM TKFETTTKVI TLMDAPGHKD FIPNMITGAA
   361  QADVAVLVVD ASRGEFEAGF ETGGQTREHG LLVRSLGVTQ LAVAVNKMDQ VNWQQERFQE
   421  ITGKLGHFLK QAGFKESDVG FIPTSGLSGE NLITRSQSSE LTKWYKGLCL LEQIDSFKPP
   481  QRSIDKPFRL CVSDVFKDQG SGFCITGKIE AGYIQTGDRL LAMPPNETCT VKGITLHDEP
   541  VDWAAAGDHV SLTLVGMDII KINVGCIFCG PKVPIKACTR FRARILIFNI EIPITKGFPV
   601  LLHYQTVSEP AVIKRLISVL NKSTGEVTKK KPKFLTKGQN ALVELQTQRP IALELYKDFK
   661  ELGRFMLRYG GSTIAAGVVT EIKE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HBS1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.38
Highest tissue expression: 157 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 157 nTPM
tongue: 115 nTPM
bone marrow: 78 nTPM
thymus: 61 nTPM
liver: 59 nTPM
spinal cord: 56 nTPM

Single-cell type

oligodendrocytes: 260 nCPM
erythrocyte progenitors: 242 nCPM
megakaryocyte-erythroid progenitors: 144 nCPM
myonuclei: 143 nCPM
neutrophil progenitors: 124 nCPM
mast cells: 111 nCPM

Immune cell

basophil: 108 nTPM
naive CD4 T-cell: 69 nTPM
T-reg: 68 nTPM
NK-cell: 67 nTPM
total PBMC: 58 nTPM
naive CD8 T-cell: 57 nTPM

Brain region

white matter: 202 nTPM
basal ganglia: 133 nTPM
hypothalamus: 120 nTPM
pons: 118 nTPM
medulla oblongata: 114 nTPM
cerebral cortex: 110 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.68
gnomAD pLI: 0
gnomAD missense Z: 0.89
DepMap mean gene effect: -0.25
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Translational (tr)-type GTP-binding domain
Translation elongation factor EFTu-like, domain 2
Translation protein, beta-barrel domain superfamily
Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal
P-loop containing nucleoside triphosphate hydrolase
Translation factor GTPase superfamily members
GTP-eEF1A, C-terminal domain
Elongation factor Tu GTP binding domain
Elongation factor Tu domain 2
GTP-eEF1A C-terminal domain-like
HBS1-like protein, N-terminal
HBS1-like protein, N-terminal domain superfamily
HBS1 N-terminus

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HBS1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HBS1L as an antibody target. Whether an autoantibody or antibody against HBS1L could matter depends on whether native HBS1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HBS1L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HBS1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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