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Entry version 166 (13 Feb 2019)
Sequence version 2 (24 Jan 2006)
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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 ‘Function’ 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

  • ATPase activity, coupled to transmembrane movement of substances Source: GO_Central
  • ATP binding Source: ProtInc
  • lipid transporter activity Source: GO_Central
  • transporter activity Source: ProtInc

GO - Biological processi

<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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000167972.13

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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.
See also OMIM:610921
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

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

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 human proteome resource

More...
ProteomicsDBi
78463

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

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Bgeei
ENSG00000167972 Expressed in 176 organ(s), highest expression level in right lung

ExpressionAtlas, Differential and Baseline Expression

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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)

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BioGridi
106539, 26 interactors

Protein interaction database and analysis system

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IntActi
Q99758, 3 interactors

Molecular INTeraction database

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MINTi
Q99758

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000301732

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q99758

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

More...
SMRi
Q99758

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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_and_domains_section">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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0059 Eukaryota
COG1131 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155289

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000006613

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG050435

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99758

KEGG Orthology (KO)

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KOi
K05643

Identification of Orthologs from Complete Genome Data

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OMAi
QFDAMDQ

Database of Orthologous Groups

More...
OrthoDBi
131191at2759

Database for complete collections of gene phylogenies

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 'canonical' 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.

Note: No experimental confirmation available.
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

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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

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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.26630

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

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GeneIDi
21

KEGG: Kyoto Encyclopedia of Genes and Genomes

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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_references_section">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]
UniGeneiHs.26630

3D structure databases

ProteinModelPortaliQ99758
SMRiQ99758
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106539, 26 interactors
IntActiQ99758, 3 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
MaxQBiQ99758
PaxDbiQ99758
PeptideAtlasiQ99758
PRIDEiQ99758
ProteomicsDBi78463

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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
EuPathDBiHostDB:ENSG00000167972.13

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
HOGENOMiHOG000006613
HOVERGENiHBG050435
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

Protein Ontology

More...
PROi
PR:Q99758

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000167972 Expressed in 176 organ(s), highest expression level in right lung
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...

<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_and_isoforms">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 13, 2019
This is version 166 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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
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