We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
Fields »
 

Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

Prognosis

Category

Score

Score

Score

Antibodies

Column

 
 
ABOUT
HELP
BLOG
  • THE HUMAN PROTEOME
  • THE HUMAN TISSUES
  • THE HUMAN CELL
  • HUMAN PATHOLOGY
  • PROTEIN CLASSES
  • PROTEIN EVIDENCE
    • NEWS
    • BLOG
    • EVENTS
    • PRESS ROOM
    • LEARN
    • DICTIONARY
    • METHODS
    • CELL LINES
  • THE PROJECT
  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS
  • PUBLICATION DATA
  • ANTIBODY SUBMISSION
  • ANTIBODY AVAILABILITY
  • LINKS
  • CONTACT
  • TECHNICAL DATA
  • ANTIBODY VALIDATION
  • ASSAYS & ANNOTATION
  • DISCLAIMER
  • DOWNLOADABLE DATA
  • HELP & FAQ
  • LICENCE & CITATION
  • PRIVACY STATEMENT
  • RELEASE HISTORY
ABCA4
  • TISSUE

  • CELL

  • PATHOLOGY

TISSUE ATLAS

GENE/PROTEIN

Dictionary


Tissue proteome

GENERAL INFORMATION

Gene namei

Gene name according to HGNC.

ABCA4

Gene descriptioni

Gene description according to HGNC.

ATP-binding cassette, sub-family A (ABC1), member 4

Protein classi

Protein class the gene product belongs to according to selected gene lists. List of protein classes.

Disease related genes
Plasma proteins
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localizationi

Protein localization predicted from several bioinformatic algorithms.

Read more

Membrane

Number of transcriptsi

Number of protein-coding transcribed from this gene as defined by Ensembl.

2
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue categoryi

RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue/cell line enriched, group enriched, tissue/cell line enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for The Cancer Genome Atlas (TCGA) data from cancer tissues and internally generated Human Protein Atlas (HPA) data from normal tissues and cell lines.

Read more

HPA:Tissue enhanced (epididymis)
GTEx:Tissue enhanced (kidney)
FANTOM5:Tissue enriched (retina)

Protein evidencei

Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.

Evidence at protein level

DATA RELIABILITY

Reliability scorei

Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.

Read more

Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARYi

Below is an overview of RNA and protein expression data generated in the Human Protein Atlas project. Analyzed tissues are divided into color-coded groups according to which functional features they have in common. For each group, a list of included tissues is accessed by clicking on group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page. Images of selected tissues give a visual summary of the protein expression profile furthest to the right. The gray human body provides links to a histology dictionary when clicking on any part of the figure.

RNA expression (TPM)i
RNA-seq results generated in HPA are reported as number of transcripts per million (TPM). Each bar represents the highest expression score found in a particular group of tissues. The assay is described more in detail in Assays & Annotation.
Protein expression (score)i
Each bar represents the highest expression score found in a particular group of tissues. Protein expression scores are based on a best estimate of the "true" protein expression from a knowledge-based annotation, described more in detail under Assays & annotation. For genes where more than one antibody has been used, a collective score is set displaying the estimated true protein expression.

Read more
Brain
N/A
Cerebral cortex
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Thyroid gland
N/A
Parathyroid gland
N/A
Adrenal gland
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Bone marrow
N/A
Lymph node
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Heart muscle
N/A
Skeletal muscle
N/A
Smooth muscle
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Gallbladder
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Salivary gland
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Small intestine
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
Prostate
N/A
Seminal vesicle
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
Endometrium
N/A
Fallopian tube
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Adipose tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEWi

Protein expression data is shown for each of the 44 tissues. The color-coding is based on tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types found in a selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in detail in Assays & annotation.

For genes with available protein data for which a knowledge-based annotation gave inconclusive results, no protein expression data is displayed in the protein expression data overview, however, all immunohistochemical images are still available and the annotation data can be found under Primary data.

Pending normal tissue annotation.

RNA EXPRESSION OVERVIEWi

RNA expression overview shows RNA-data from three different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data, RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.

HPA dataseti

HPA dataset
RNA-seq tissue data is reported as mean TPM (transcripts per million), corresponding to mean values of the different individual samples from each tissue. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar. The RNA-seq assay is described in detail in Assays & Annotation.

RNA tissue category HPA
HPA RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (epididymis)
GTEx dataseti

GTEx dataset
RNA-seq data are reported as median RPKM (reads per kilobase per million mapped reads), generated by the Genotype-Tissue Expression (GTEx) project. More information can be found in Assays & Annotation.

RNA tissue category GTEx
GTEx RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (kidney)
FANTOM5 dataseti

FANTOM5 dataset
Tissue data obtained through Cap Analysis of Gene Expression (CAGE) are reported as Tags Per Million, generated by the FANTOM5 project. More information can be found in Assays & Annotation.

RNA tissue category FANTOM5
FANTOM5 RNA tissue category (category description) is calculated based on gene expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (retina)

GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Gene name

ABCA4 (HGNC Symbol)

Synonyms

ABCA4, ABCR , ARMD2, CORD3, FFM, RP19, STGD, STGD1

Description

ATP-binding cassette, sub-family A (ABC1), member 4 (HGNC Symbol)

Entrez gene summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]

Chromosome

1

Cytoband

p22.1

Chromosome location (bp)

93992835 - 94121132

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000198691 (version 83.38)

Entrez gene

24

UniProt

P78363 (UniProt - Evidence at protein level)

neXtProt

NX_P78363

Antibodypedia

ABCA4 antibodies

PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.

ABCA4-001
ABCA4-201

PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCA4-001
ENSP00000359245
ENST00000370225
P78363 [Direct mapping]
Retinal-specific ATP-binding cassette transporter
Show all
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0001523 [retinoid metabolic process]
GO:0001750 [photoreceptor outer segment]
GO:0004012 [phospholipid-translocating ATPase activity]
GO:0005215 [transporter activity]
GO:0005524 [ATP binding]
GO:0005548 [phospholipid transporter activity]
GO:0005887 [integral component of plasma membrane]
GO:0006649 [phospholipid transfer to membrane]
GO:0006810 [transport]
GO:0007601 [visual perception]
GO:0007603 [phototransduction, visible light]
GO:0016020 [membrane]
GO:0016887 [ATPase activity]
GO:0017127 [cholesterol transporter activity]
GO:0033344 [cholesterol efflux]
GO:0033700 [phospholipid efflux]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045332 [phospholipid translocation]
GO:0045494 [photoreceptor cell maintenance]
GO:0055085 [transmembrane transport]
GO:0097381 [photoreceptor disc membrane]
Show all
2273 aa
255.9 kDa
No >9
ABCA4-201
ENSP00000439707
ENST00000536513
F6TT59 [Direct mapping]
Retinal-specific ATP-binding cassette transporter
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   8TM proteins predicted by MDM
Show all
GO:0005524 [ATP binding]
GO:0005548 [phospholipid transporter activity]
GO:0005887 [integral component of plasma membrane]
GO:0007601 [visual perception]
GO:0008152 [metabolic process]
GO:0016887 [ATPase activity]
GO:0017127 [cholesterol transporter activity]
GO:0033344 [cholesterol efflux]
GO:0033700 [phospholipid efflux]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0055085 [transmembrane transport]
Show all
1065 aa
118.1 kDa
No 8

Contact

  • BLOG
  • PRESS ROOM
  • contact@proteinatlas.org

The Project

  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS
  • DOWNLOADABLE DATA

The Human Protein Atlas

  • ANTIBODY AVAILABILITY
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.