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Entry version 97 (17 Jun 2020)
Sequence version 1 (02 Aug 2005)
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Protein
Submitted name:

ABCA3 variant protein

Gene

ABCA3 variant protein

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation 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 evidence at transcript 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

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 bindingi570 – 577ATPPROSITE-ProRule annotation8
Nucleotide bindingi1420 – 1427ATPPROSITE-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

<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

LigandATP-bindingPROSITE-ProRule annotation, Nucleotide-binding

<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
Submitted name:
ABCA3 variant proteinImported
<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 variant proteinImported
<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)Imported
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

<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

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>Transmembranei21 – 45HelicalSequence analysisAdd BLAST25
Transmembranei84 – 104HelicalSequence analysisAdd BLAST21
Transmembranei325 – 345HelicalSequence analysisAdd BLAST21
Transmembranei365 – 389HelicalSequence analysisAdd BLAST25
Transmembranei409 – 430HelicalSequence analysisAdd BLAST22
Transmembranei451 – 474HelicalSequence analysisAdd BLAST24
Transmembranei930 – 951HelicalSequence analysisAdd BLAST22
Transmembranei1104 – 1125HelicalSequence analysisAdd BLAST22
Transmembranei1145 – 1168HelicalSequence analysisAdd BLAST24
Transmembranei1189 – 1211HelicalSequence analysisAdd BLAST23
Transmembranei1217 – 1237HelicalSequence analysisAdd BLAST21
Transmembranei1310 – 1328HelicalSequence analysisAdd BLAST19

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

Organism-specific databases

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24378

<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

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q4LE27

PeptideAtlas

More...
PeptideAtlasi
Q4LE27

PRoteomics IDEntifications database

More...
PRIDEi
Q4LE27

<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

Gene expression databases

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q4LE27 HS

<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>Domaini534 – 767ABC transporterInterPro annotationAdd BLAST234
Domaini1385 – 1618ABC transporterInterPro annotationAdd BLAST234

Keywords - Domaini

Transmembrane, Transmembrane helixSequence analysis

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0059 Eukaryota
COG1131 LUCA

KEGG Orthology (KO)

More...
KOi
K05643

Database of Orthologous Groups

More...
OrthoDBi
131191at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q4LE27

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, 2 hits
PTHR19229:SF98 PTHR19229:SF98, 2 hits

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>Sequencei

<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: Fragment.

Q4LE27-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
TAPPPSPSLP LQDRAATSAH LALFTLSFQS TFLLFPAGCS AYLNLLRPPT
60 70 80 90 100
SLAALGVPFS KTMAVLRQLA LLLWKNYTLQ KRKVLVTVLE LFLPLLFSGI
110 120 130 140 150
LIWLRLKIQS ENVPNATIYP GQSIQELPLF FTFPPPGDTW ELAYIPSHSD
160 170 180 190 200
AAKTVTETVR RALVINMRVR GFPSEKDFED YIRYDNCSSS VLAAVVFEHP
210 220 230 240 250
FNHSKEPLPL AVKYHLRFSY TRRNYMWTQT GSFFLKETEG WHTTSLFPLF
260 270 280 290 300
PNPGPREPTS PDGGEPGYIR EGFLAVQHAV DRAIMEYHAD AATRQLFQRL
310 320 330 340 350
TVTIKRFPYP PFIADPFLVA IQYQLPLLLL LSFTYTALTI ARAVVQEKER
360 370 380 390 400
RLKEYMRMMG LSSWLHWSAW FLLFFLFLLI AASFMTLLFC VKVKPNVAVL
410 420 430 440 450
SRSDPSLVLA FLLCFAISTI SFSFMVSTFF SKGMGIQWRD LLSPVNVDDD
460 470 480 490 500
FCFGQVLGML LLDSVLYGLV TWYMEAVFPG QFGVPQPWYF FIMPSYWCGK
510 520 530 540 550
PRAVAGKEEE DSDPEKALRN EYFEAEPEDL VAGIKIKHLS KVFRVGNKDR
560 570 580 590 600
AAVRDLNLNL YEGQITVLLG HNGAGKTTTL SMLTGLFPPT SGRAYISGYE
610 620 630 640 650
ISQDMVQIRK SLGLCPQHDI LFDNLTVAEH LYFYAQLKGL SRQKCPEEVK
660 670 680 690 700
QMLHIIGLED KWNSRSRFLS GGMRRKLSIG IALIAGSKVL ILDEPTSGMD
710 720 730 740 750
AISRRAIWDL LQRQKSDRTI VLTTHFMDEA DLLGDRIAIM AKGELQCCGS
760 770 780 790 800
SLFLKQKYGA GYHMTLVKEP HCNPEDISQL VHHHVPNATL ESSAGAELSF
810 820 830 840 850
ILPRESTHRF EGLFAKLEKK QKELGIASFG ASITTMEEVF LRVGKLVDSS
860 870 880 890 900
MDIQAIQLPA LQYQHERRAS DWAVDSNLCG AMDPSDGIGA LIEEERTAVK
910 920 930 940 950
LNTGLALHCQ QFWAMFLKKA AYSWREWKMV AAQVLVPLTC VTLALLAINY
960 970 980 990 1000
SSELFDDPML RLTLGEYGRT VVPFSVPGTS QLGQQLSEHL KDALQAEGQE
1010 1020 1030 1040 1050
PREVLGDLEE FLIFRASVEG GGFNERCLVA ASFRDVGERT VVNALFNNQA
1060 1070 1080 1090 1100
YHSPATALAV VDNLLFKLLC GPHASIVVSN FPQPRSALQA AKDQFNEGRK
1110 1120 1130 1140 1150
GFDIALNLLF AMAFLASTFS ILAVSERAVQ AKHVQFVSGV HVASFWLSAL
1160 1170 1180 1190 1200
LWDLISFLIP SLLLLVVFKA FDVRAFTRDG HMADTLLLLL LYGWAIIPLM
1210 1220 1230 1240 1250
YLMNFFFLGA ATAYTRLTIF NILSGIATFL MVTIMRIPAV KLEELSKTLD
1260 1270 1280 1290 1300
HVFLVLPNHC LGMAVSSFYE NYETRRYCTS SEVAAHYCKK YNIQYQENFY
1310 1320 1330 1340 1350
AWSAPGVGRF VASMAASGCA YLILLFLIET NLLQRLRGIL CALRRRRTLT
1360 1370 1380 1390 1400
ELYTRMPVLP EDQDVADERT RILAPSPDSL LHTPLIIKEL SKVYEQRVPL
1410 1420 1430 1440 1450
LAVDRLSLAV QKGECFGLLG FNGAGKTTTF KMLTGEESLT SGDAFVGGHR
1460 1470 1480 1490 1500
ISSDVGKVRQ RIGYCPQFDA LLDHMTGREM LVMYARLRGI PERHIGACVE
1510 1520 1530 1540 1550
NTLRGLLLEP HANKLVRTYS GGNKRKLSTG IALIGEPAVI FLDEPSTGMD
1560 1570 1580 1590 1600
PVARRLLWDT VARARESGKA IIITSHSMEE CEALCTRLAI MVQGQFKCLG
1610 1620 1630 1640 1650
SPQHLKSKFG SGYSLRAKVQ SEGQQEALEE FKAFVDLTFP GSVLEDEHQG
1660 1670 1680 1690 1700
MVHYHLPGRD LSWAKVFGIL EKAKEKYGVD DYSVSQISLE QVFLSFAHLQ

PPTAEEGR
Length:1,708
Mass (Da):191,318
Last modified:August 2, 2005 - v1
<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:iE64C1D2ACEDA199B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section is used for sequence fragments to indicate that the residue at the extremity of the sequence is not the actual terminal residue in the complete protein sequence.<p><a href='/help/non_ter' target='_top'>More...</a></p>Non-terminal residuei1Imported1

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
AB210044 mRNA Translation: BAE06126.1

NCBI Reference Sequences

More...
RefSeqi
NP_001080.2, NM_001089.2

Genome annotation databases

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
21

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:21

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB210044 mRNA Translation: BAE06126.1
RefSeqiNP_001080.2, NM_001089.2

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Proteomic databases

MaxQBiQ4LE27
PeptideAtlasiQ4LE27
PRIDEiQ4LE27

Genome annotation databases

GeneIDi21
KEGGihsa:21

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
21
PharmGKBiPA24378

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
KOiK05643
OrthoDBi131191at2759
PhylomeDBiQ4LE27

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
21 7 hits in 786 CRISPR screens

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

More...
ChiTaRSi
ABCA3 human

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

More...
GenomeRNAii
21

Gene expression databases

GenevisibleiQ4LE27 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, 2 hits
PTHR19229:SF98 PTHR19229:SF98, 2 hits
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 nameiQ4LE27_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: Q4LE27
<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/TrEMBL: August 2, 2005
Last sequence update: August 2, 2005
Last modified: June 17, 2020
This is version 97 of the entry and version 1 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 statusiUnreviewed (UniProtKB/TrEMBL)
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.
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