ALAS1

GENERAL INFORMATION

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Gene name

ALAS1

Gene description

Aminolevulinate, delta-, synthase 1

Protein class

Enzymes
Mitochondrial proteins
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Tissue enriched (adrenal gland)

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression with a granular pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA035860 , CAB017498
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RNA AND PROTEIN EXPRESSION SUMMARY

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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

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (adrenal gland)

Organ

Expression



GENE INFORMATION

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Gene name

ALAS1 (HGNC Symbol)

Synonyms

ALAS, ALAS3

Description

Aminolevulinate, delta-, synthase 1 (HGNC Symbol)

Entrez gene summary

This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]

Chromosome

3

Cytoband

p21.2

Chromosome location (bp)

52198086 - 52214327

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000023330 (version 78.38)

Entrez gene

211

UniProt

P13196 (UniProt - Evidence at protein level)

neXtProt

NX_P13196

Antibodypedia

ALAS1 antibodies


PROTEIN BROWSER

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ENST00000310271
 
ENST00000394965
 
ENST00000459884
 
ENST00000469224
 
ENST00000484952
 
ENST00000493402
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ALAS1-001 ENSP00000378416
ENST00000394965
P13196
Show all »
Show » Show » 640 70.6 No 0
ALAS1-002 ENSP00000417719
ENST00000469224
P13196
Show all »
Show » Show » 640 70.6 No 0
ALAS1-003 ENSP00000309259
ENST00000310271
P13196
Show all »
Show » Show » 640 70.6 No 0
ALAS1-004 ENSP00000418779
ENST00000484952
P13196
Show all »
Show » Show » 640 70.6 No 0
ALAS1-006 ENSP00000419423
ENST00000459884
Show » Show » 117 13.4 No 0
ALAS1-007 ENSP00000417352
ENST00000493402
Show » Show » 237 26.6 No 0