Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q99758 (ABCA3_HUMAN)

Entry version 173 (26 Feb 2020)
Sequence version 2 (24 Jan 2006)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

ATP-binding cassette sub-family A member 3

Gene

ABCA3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi566 – 573ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1416 – 1423ATP 2PROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-5683678 Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)
R-HSA-5683826 Surfactant metabolism
R-HSA-5688399 Defective ABCA3 causes pulmonary surfactant metabolism dysfunction 3 (SMDP3)

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q99758

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.1.211.5 the atp-binding cassette (abc) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 3
Alternative name(s):
ABC-C transporter
ATP-binding cassette transporter 3
Short name:
ATP-binding cassette 3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCA3
Synonyms:ABC3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:33 ABCA3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601615 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q99758

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Transmembranei261 – 283HelicalSequence analysisAdd BLAST23
Transmembranei307 – 327HelicalSequence analysisAdd BLAST21
Transmembranei344 – 364HelicalSequence analysisAdd BLAST21
Transmembranei373 – 393HelicalSequence analysisAdd BLAST21
Transmembranei405 – 425HelicalSequence analysisAdd BLAST21
Transmembranei447 – 467HelicalSequence analysisAdd BLAST21
Transmembranei925 – 945HelicalSequence analysisAdd BLAST21
Transmembranei1100 – 1120HelicalSequence analysisAdd BLAST21
Transmembranei1144 – 1164HelicalSequence analysisAdd BLAST21
Transmembranei1183 – 1203HelicalSequence analysisAdd BLAST21
Transmembranei1213 – 1233HelicalSequence analysisAdd BLAST21
Transmembranei1245 – 1265HelicalSequence analysisAdd BLAST21
Transmembranei1306 – 1326HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Pulmonary surfactant metabolism dysfunction 3 (SMDP3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023497101L → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909182EnsemblClinVar.1
Natural variantiVAR_023498568N → D in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909184EnsemblClinVar.1
Natural variantiVAR_0234991553L → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909183EnsemblClinVar.1
Natural variantiVAR_0235001591Q → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs28936691EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		21

MalaCards human disease database

More...MalaCardsi		ABCA3
MIMi610921 phenotype

Open Targets

More...OpenTargetsi		ENSG00000167972

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2032 Idiopathic pulmonary fibrosis
70587 Infant acute respiratory distress syndrome
440402 Interstitial lung disease due to ABCA3 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24378

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q99758 Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00619 Imatinib

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABCA3

Domain mapping of disease mutations (DMDM)

More...DMDMi		85700402

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000932931 – 1704ATP-binding cassette sub-family A member 3Add BLAST1704

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q99758

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q99758

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q99758

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q99758

PeptideAtlas

More...PeptideAtlasi		Q99758

PRoteomics IDEntifications database

More...PRIDEi		Q99758

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66998
78463 [Q99758-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q99758

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q99758

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in lung, followed by brain, pancreas, skeletal muscle and heart. Weakly expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000167972 Expressed in right lung and 175 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q99758 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q99758 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA007884

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		106539, 26 interactors

Protein interaction database and analysis system

More...IntActi		Q99758, 20 interactors

Molecular INTeraction database

More...MINTi		Q99758

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000301732

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q99758 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q99758

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini530 – 763ABC transporter 1PROSITE-ProRule annotationAdd BLAST234
Domaini1381 – 1614ABC transporter 2PROSITE-ProRule annotationAdd BLAST234

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ABC transporter superfamily. ABCA family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0059 Eukaryota
COG1131 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155289

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_113155_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q99758

KEGG Orthology (KO)

More...KOi		K05643

Identification of Orthologs from Complete Genome Data

More...OMAi		QFDAMDQ

Database of Orthologous Groups

More...OrthoDBi		131191at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q99758

TreeFam database of animal gene trees

More...TreeFami		TF105191

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR026082 ABCA
IPR026969 ABCA3
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...PANTHERi		PTHR19229 PTHR19229, 1 hit
PTHR19229:SF98 PTHR19229:SF98, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00005 ABC_tran, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00382 AAA, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99758-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAVLRQLALL LWKNYTLQKR KVLVTVLELF LPLLFSGILI WLRLKIQSEN 
        60         70         80         90        100
VPNATIYPGQ SIQELPLFFT FPPPGDTWEL AYIPSHSDAA KTVTETVRRA 
       110        120        130        140        150
LVINMRVRGF PSEKDFEDYI RYDNCSSSVL AAVVFEHPFN HSKEPLPLAV 
       160        170        180        190        200
KYHLRFSYTR RNYMWTQTGS FFLKETEGWH TTSLFPLFPN PGPREPTSPD 
       210        220        230        240        250
GGEPGYIREG FLAVQHAVDR AIMEYHADAA TRQLFQRLTV TIKRFPYPPF 
       260        270        280        290        300
IADPFLVAIQ YQLPLLLLLS FTYTALTIAR AVVQEKERRL KEYMRMMGLS 
       310        320        330        340        350
SWLHWSAWFL LFFLFLLIAA SFMTLLFCVK VKPNVAVLSR SDPSLVLAFL 
       360        370        380        390        400
LCFAISTISF SFMVSTFFSK ANMAAAFGGF LYFFTYIPYF FVAPRYNWMT 
       410        420        430        440        450
LSQKLCSCLL SNVAMAMGAQ LIGKFEAKGM GIQWRDLLSP VNVDDDFCFG 
       460        470        480        490        500
QVLGMLLLDS VLYGLVTWYM EAVFPGQFGV PQPWYFFIMP SYWCGKPRAV 
       510        520        530        540        550
AGKEEEDSDP EKALRNEYFE AEPEDLVAGI KIKHLSKVFR VGNKDRAAVR 
       560        570        580        590        600
DLNLNLYEGQ ITVLLGHNGA GKTTTLSMLT GLFPPTSGRA YISGYEISQD 
       610        620        630        640        650
MVQIRKSLGL CPQHDILFDN LTVAEHLYFY AQLKGLSRQK CPEEVKQMLH 
       660        670        680        690        700
IIGLEDKWNS RSRFLSGGMR RKLSIGIALI AGSKVLILDE PTSGMDAISR 
       710        720        730        740        750
RAIWDLLQRQ KSDRTIVLTT HFMDEADLLG DRIAIMAKGE LQCCGSSLFL 
       760        770        780        790        800
KQKYGAGYHM TLVKEPHCNP EDISQLVHHH VPNATLESSA GAELSFILPR 
       810        820        830        840        850
ESTHRFEGLF AKLEKKQKEL GIASFGASIT TMEEVFLRVG KLVDSSMDIQ 
       860        870        880        890        900
AIQLPALQYQ HERRASDWAV DSNLCGAMDP SDGIGALIEE ERTAVKLNTG 
       910        920        930        940        950
LALHCQQFWA MFLKKAAYSW REWKMVAAQV LVPLTCVTLA LLAINYSSEL 
       960        970        980        990       1000
FDDPMLRLTL GEYGRTVVPF SVPGTSQLGQ QLSEHLKDAL QAEGQEPREV 
      1010       1020       1030       1040       1050
LGDLEEFLIF RASVEGGGFN ERCLVAASFR DVGERTVVNA LFNNQAYHSP 
      1060       1070       1080       1090       1100
ATALAVVDNL LFKLLCGPHA SIVVSNFPQP RSALQAAKDQ FNEGRKGFDI 
      1110       1120       1130       1140       1150
ALNLLFAMAF LASTFSILAV SERAVQAKHV QFVSGVHVAS FWLSALLWDL 
      1160       1170       1180       1190       1200
ISFLIPSLLL LVVFKAFDVR AFTRDGHMAD TLLLLLLYGW AIIPLMYLMN 
      1210       1220       1230       1240       1250
FFFLGAATAY TRLTIFNILS GIATFLMVTI MRIPAVKLEE LSKTLDHVFL 
      1260       1270       1280       1290       1300
VLPNHCLGMA VSSFYENYET RRYCTSSEVA AHYCKKYNIQ YQENFYAWSA 
      1310       1320       1330       1340       1350
PGVGRFVASM AASGCAYLIL LFLIETNLLQ RLRGILCALR RRRTLTELYT 
      1360       1370       1380       1390       1400
RMPVLPEDQD VADERTRILA PSPDSLLHTP LIIKELSKVY EQRVPLLAVD 
      1410       1420       1430       1440       1450
RLSLAVQKGE CFGLLGFNGA GKTTTFKMLT GEESLTSGDA FVGGHRISSD 
      1460       1470       1480       1490       1500
VGKVRQRIGY CPQFDALLDH MTGREMLVMY ARLRGIPERH IGACVENTLR 
      1510       1520       1530       1540       1550
GLLLEPHANK LVRTYSGGNK RKLSTGIALI GEPAVIFLDE PSTGMDPVAR 
      1560       1570       1580       1590       1600
RLLWDTVARA RESGKAIIIT SHSMEECEAL CTRLAIMVQG QFKCLGSPQH 
      1610       1620       1630       1640       1650
LKSKFGSGYS LRAKVQSEGQ QEALEEFKAF VDLTFPGSVL EDEHQGMVHY 
      1660       1670       1680       1690       1700
HLPGRDLSWA KVFGILEKAK EKYGVDDYSV SQISLEQVFL SFAHLQPPTA 

EEGR
Length:1,704
Mass (Da):191,362
Last modified:January 24, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i606735C504839D0D
GO
Isoform 2 (identifier: Q99758-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-209: YIRE → EKLG
     210-1704: Missing.

Show »
Length:209
Mass (Da):24,002
Checksum:iE78228AB42510C9A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y3H2H0Y3H2_HUMAN
ATP-binding cassette sub-family A m...
ABCA3
1,646Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti36S → P in AAC50967 (PubMed:8706931).Curated1
Sequence conflicti196P → L in AAC50967 (PubMed:8706931).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023497101L → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909182EnsemblClinVar.1
Natural variantiVAR_025061140N → H1 PublicationCorresponds to variant dbSNP:rs45447801Ensembl.1
Natural variantiVAR_035728290L → M in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_023498568N → D in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909184EnsemblClinVar.1
Natural variantiVAR_025062766P → S1 PublicationCorresponds to variant dbSNP:rs45592239EnsemblClinVar.1
Natural variantiVAR_035729801E → D in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0357301069H → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0234991553L → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909183EnsemblClinVar.1
Natural variantiVAR_0235001591Q → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs28936691EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056262206 – 209YIRE → EKLG in isoform 2. 1 Publication4
Alternative sequenceiVSP_056263210 – 1704Missing in isoform 2. 1 PublicationAdd BLAST1495

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U78735 mRNA Translation: AAC50967.1
X97187 mRNA Translation: CAA65825.1
AB070929 mRNA Translation: BAB86781.1
DQ073080 Genomic DNA Translation: AAY57325.1
CH471112 Genomic DNA Translation: EAW85515.1
BC020724 mRNA Translation: AAH20724.1
BC062779 mRNA Translation: AAH62779.1
AC009065 Genomic DNA No translation available.
AC098805 Genomic DNA No translation available.
AC106820 Genomic DNA No translation available.
BC140895 mRNA Translation: AAI40896.1
BC146866 mRNA Translation: AAI46867.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10466.1 [Q99758-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A59188
S71363

NCBI Reference Sequences

More...RefSeqi		NP_001080.2, NM_001089.2 [Q99758-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000301732; ENSP00000301732; ENSG00000167972 [Q99758-1]
ENST00000567910; ENSP00000454397; ENSG00000167972 [Q99758-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		21

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:21

UCSC genome browser

More...UCSCi		uc002cpy.2 human [Q99758-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

SeattleSNPs
ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U78735 mRNA Translation: AAC50967.1
X97187 mRNA Translation: CAA65825.1
AB070929 mRNA Translation: BAB86781.1
DQ073080 Genomic DNA Translation: AAY57325.1
CH471112 Genomic DNA Translation: EAW85515.1
BC020724 mRNA Translation: AAH20724.1
BC062779 mRNA Translation: AAH62779.1
AC009065 Genomic DNA No translation available.
AC098805 Genomic DNA No translation available.
AC106820 Genomic DNA No translation available.
BC140895 mRNA Translation: AAI40896.1
BC146866 mRNA Translation: AAI46867.1
CCDSiCCDS10466.1 [Q99758-1]
PIRiA59188
S71363
RefSeqiNP_001080.2, NM_001089.2 [Q99758-1]

3D structure databases

SMRiQ99758
ModBaseiSearch...

Protein-protein interaction databases

BioGridi106539, 26 interactors
IntActiQ99758, 20 interactors
MINTiQ99758
STRINGi9606.ENSP00000301732

Chemistry databases

DrugBankiDB00619 Imatinib

Protein family/group databases

TCDBi3.A.1.211.5 the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiQ99758
PhosphoSitePlusiQ99758

Polymorphism and mutation databases

BioMutaiABCA3
DMDMi85700402

Proteomic databases

jPOSTiQ99758
MassIVEiQ99758
MaxQBiQ99758
PaxDbiQ99758
PeptideAtlasiQ99758
PRIDEiQ99758
ProteomicsDBi66998
78463 [Q99758-1]

Genome annotation databases

EnsembliENST00000301732; ENSP00000301732; ENSG00000167972 [Q99758-1]
ENST00000567910; ENSP00000454397; ENSG00000167972 [Q99758-2]
GeneIDi21
KEGGihsa:21
UCSCiuc002cpy.2 human [Q99758-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		21
DisGeNETi21

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABCA3
HGNCiHGNC:33 ABCA3
HPAiHPA007884
MalaCardsiABCA3
MIMi601615 gene
610921 phenotype
neXtProtiNX_Q99758
OpenTargetsiENSG00000167972
Orphaneti2032 Idiopathic pulmonary fibrosis
70587 Infant acute respiratory distress syndrome
440402 Interstitial lung disease due to ABCA3 deficiency
PharmGKBiPA24378

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00940000155289
HOGENOMiCLU_113155_0_0_1
InParanoidiQ99758
KOiK05643
OMAiQFDAMDQ
OrthoDBi131191at2759
PhylomeDBiQ99758
TreeFamiTF105191

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-5683678 Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)
R-HSA-5683826 Surfactant metabolism
R-HSA-5688399 Defective ABCA3 causes pulmonary surfactant metabolism dysfunction 3 (SMDP3)
SIGNORiQ99758

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ABCA3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ABCA3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		21
PharosiQ99758 Tbio

Protein Ontology

More...PROi		PR:Q99758
RNActiQ99758 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000167972 Expressed in right lung and 175 other tissues
ExpressionAtlasiQ99758 baseline and differential
GenevisibleiQ99758 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR026082 ABCA
IPR026969 ABCA3
IPR027417 P-loop_NTPase
PANTHERiPTHR19229 PTHR19229, 1 hit
PTHR19229:SF98 PTHR19229:SF98, 1 hit
PfamiView protein in Pfam
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABCA3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99758
Secondary accession number(s): B2RU09
, Q54A95, Q6P5P9, Q92473
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 24, 2006
Last modified: February 26, 2020
This is version 173 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again