HBS1L

GENERAL INFORMATION

? »

Gene name

HBS1L

Gene description

HBS1-like translational GTPase

Protein class

Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

14
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA029728 , HPA029729
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

HBS1L (HGNC Symbol)

Synonyms

DKFZp434g247, EF-1a, eRF3c, ERFS, HBS1, HSPC276, KIAA1038

Description

HBS1-like translational GTPase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

6

Cytoband

q23.3

Chromosome location (bp)

134960378 - 135103056

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000112339 (version 78.38)

Entrez gene

10767

UniProt

Q9Y450 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y450

Antibodypedia

HBS1L antibodies


PROTEIN BROWSER

? »
 
 
 « 
 
ENST00000314674
 
ENST00000367820
 
ENST00000367822
 
ENST00000367826
 
ENST00000367837
 
ENST00000415177
 
ENST00000524715
 
ENST00000525067
 
ENST00000527507
 
ENST00000527578
 
ENST00000529169
 
ENST00000529641
 
ENST00000529882
 
ENST00000533274
 
 » 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HBS1L-001 ENSP00000356811
ENST00000367837
Q9Y450
Show all »
Show » Show » 684 75.5 No 0
HBS1L-003 ENSP00000323566
ENST00000314674
E9PLR4
Show all »
Show » 215 24.2 No 0
HBS1L-004 ENSP00000356796
ENST00000367822
Q9Y450
Show all »
Show » Show » 632 70.1 No 0
HBS1L-006 ENSP00000356800
ENST00000367826
Q9Y450
Show all »
Show » Show » 642 70.6 No 0
HBS1L-007 ENSP00000389826
ENST00000415177
J3QT46
Show all »
Show » Show » 619 68.3 No 0
HBS1L-009 ENSP00000434533
ENST00000533274
H0YDX7
Show all »
Show » Show » 554 60.6 No 0
HBS1L-010 ENSP00000436256
ENST00000527578
B7Z524
Show all »
Show » Show » 520 57 No 0
HBS1L-011 ENSP00000433030
ENST00000529882
E9PMN1
Show all »
Show » 168 19.2 No 0
HBS1L-012 ENSP00000435608
ENST00000525067
E9PJ90
Show all »
Show » 118 13.5 No 1
HBS1L-013 ENSP00000434855
ENST00000524715
E9PN23
Show all »
Show » 141 15.9 No 0
HBS1L-014 ENSP00000356794
ENST00000367820
G5E991
Show all »
Show » 147 16.7 No 0
HBS1L-015 ENSP00000432092
ENST00000527507
E9PS53
Show all »
Show » Show » 142 15.3 No 0
HBS1L-016 ENSP00000436620
ENST00000529641
E9PHZ9
Show all »
Show » Show » 243 26.1 No 0
HBS1L-017 ENSP00000436472
ENST00000529169
Show » Show » 170 18.6 No 0