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Q99758

- ABCA3_HUMAN

UniProt

Q99758 - ABCA3_HUMAN

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Protein

ATP-binding cassette sub-family A member 3

Gene
ABCA3, ABC3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi566 – 5738ATP 1 Reviewed prediction
Nucleotide bindingi1416 – 14238ATP 2 Reviewed prediction

GO - Molecular functioni

  1. ATPase activity, coupled to transmembrane movement of substances Source: ProtInc
  2. ATP binding Source: ProtInc
  3. transporter activity Source: ProtInc

GO - Biological processi

  1. response to drug Source: ProtInc
  2. response to glucocorticoid Source: Ensembl
  3. transmembrane transport Source: Reactome
  4. transport Source: MGI
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.

Protein family/group databases

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

Names & Taxonomyi

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
Gene namesi
Name:ABCA3
Synonyms:ABC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:33. ABCA3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei22 – 4221Helical; Reviewed predictionAdd
BLAST
Transmembranei261 – 28323Helical; Reviewed predictionAdd
BLAST
Transmembranei307 – 32721Helical; Reviewed predictionAdd
BLAST
Transmembranei344 – 36421Helical; Reviewed predictionAdd
BLAST
Transmembranei373 – 39321Helical; Reviewed predictionAdd
BLAST
Transmembranei405 – 42521Helical; Reviewed predictionAdd
BLAST
Transmembranei447 – 46721Helical; Reviewed predictionAdd
BLAST
Transmembranei925 – 94521Helical; Reviewed predictionAdd
BLAST
Transmembranei1100 – 112021Helical; Reviewed predictionAdd
BLAST
Transmembranei1144 – 116421Helical; Reviewed predictionAdd
BLAST
Transmembranei1183 – 120321Helical; Reviewed predictionAdd
BLAST
Transmembranei1213 – 123321Helical; Reviewed predictionAdd
BLAST
Transmembranei1245 – 126521Helical; Reviewed predictionAdd
BLAST
Transmembranei1306 – 132621Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. alveolar lamellar body Source: MGI
  2. alveolar lamellar body membrane Source: Ensembl
  3. extracellular space Source: UniProt
  4. integral component of membrane Source: ProtInc
  5. membrane Source: ProtInc
  6. plasma membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti101 – 1011L → P in SMDP3. 1 Publication
Corresponds to variant rs28936412 [ dbSNP | Ensembl ].
VAR_023497
Natural varianti568 – 5681N → D in SMDP3. 1 Publication
VAR_023498
Natural varianti1553 – 15531L → P in SMDP3. 1 Publication
VAR_023499
Natural varianti1591 – 15911Q → P in SMDP3. 1 Publication
Corresponds to variant rs28936691 [ dbSNP | Ensembl ].
VAR_023500

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi610921. phenotype.
Orphaneti264675. Congenital pulmonary alveolar proteinosis.
217563. Neonatal acute respiratory distress with surfactant metabolism deficiency.
PharmGKBiPA24378.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 17041704ATP-binding cassette sub-family A member 3PRO_0000093293Add
BLAST

Proteomic databases

MaxQBiQ99758.
PaxDbiQ99758.
PRIDEiQ99758.

PTM databases

PhosphoSiteiQ99758.

Expressioni

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

ArrayExpressiQ99758.
BgeeiQ99758.
CleanExiHS_ABCA3.
GenevestigatoriQ99758.

Organism-specific databases

HPAiHPA007884.

Interactioni

Protein-protein interaction databases

BioGridi106539. 2 interactions.
IntActiQ99758. 2 interactions.
MINTiMINT-6943242.
STRINGi9606.ENSP00000301732.

Structurei

3D structure databases

ProteinModelPortaliQ99758.
SMRiQ99758. Positions 527-832, 1302-1642.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini530 – 763234ABC transporter 1Add
BLAST
Domaini1381 – 1614234ABC transporter 2Add
BLAST

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
HOGENOMiHOG000006613.
HOVERGENiHBG050435.
KOiK05643.
OMAiLKTCICA.
OrthoDBiEOG7RNJZ8.
PhylomeDBiQ99758.
TreeFamiTF105191.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR026969. ABCA3.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 1 hit.
PTHR19229:SF98. PTHR19229:SF98. 1 hit.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q99758-1 [UniParc]FASTAAdd to Basket

« Hide

MAVLRQLALL LWKNYTLQKR KVLVTVLELF LPLLFSGILI WLRLKIQSEN     50
VPNATIYPGQ SIQELPLFFT FPPPGDTWEL AYIPSHSDAA KTVTETVRRA 100
LVINMRVRGF PSEKDFEDYI RYDNCSSSVL AAVVFEHPFN HSKEPLPLAV 150
KYHLRFSYTR RNYMWTQTGS FFLKETEGWH TTSLFPLFPN PGPREPTSPD 200
GGEPGYIREG FLAVQHAVDR AIMEYHADAA TRQLFQRLTV TIKRFPYPPF 250
IADPFLVAIQ YQLPLLLLLS FTYTALTIAR AVVQEKERRL KEYMRMMGLS 300
SWLHWSAWFL LFFLFLLIAA SFMTLLFCVK VKPNVAVLSR SDPSLVLAFL 350
LCFAISTISF SFMVSTFFSK ANMAAAFGGF LYFFTYIPYF FVAPRYNWMT 400
LSQKLCSCLL SNVAMAMGAQ LIGKFEAKGM GIQWRDLLSP VNVDDDFCFG 450
QVLGMLLLDS VLYGLVTWYM EAVFPGQFGV PQPWYFFIMP SYWCGKPRAV 500
AGKEEEDSDP EKALRNEYFE AEPEDLVAGI KIKHLSKVFR VGNKDRAAVR 550
DLNLNLYEGQ ITVLLGHNGA GKTTTLSMLT GLFPPTSGRA YISGYEISQD 600
MVQIRKSLGL CPQHDILFDN LTVAEHLYFY AQLKGLSRQK CPEEVKQMLH 650
IIGLEDKWNS RSRFLSGGMR RKLSIGIALI AGSKVLILDE PTSGMDAISR 700
RAIWDLLQRQ KSDRTIVLTT HFMDEADLLG DRIAIMAKGE LQCCGSSLFL 750
KQKYGAGYHM TLVKEPHCNP EDISQLVHHH VPNATLESSA GAELSFILPR 800
ESTHRFEGLF AKLEKKQKEL GIASFGASIT TMEEVFLRVG KLVDSSMDIQ 850
AIQLPALQYQ HERRASDWAV DSNLCGAMDP SDGIGALIEE ERTAVKLNTG 900
LALHCQQFWA MFLKKAAYSW REWKMVAAQV LVPLTCVTLA LLAINYSSEL 950
FDDPMLRLTL GEYGRTVVPF SVPGTSQLGQ QLSEHLKDAL QAEGQEPREV 1000
LGDLEEFLIF RASVEGGGFN ERCLVAASFR DVGERTVVNA LFNNQAYHSP 1050
ATALAVVDNL LFKLLCGPHA SIVVSNFPQP RSALQAAKDQ FNEGRKGFDI 1100
ALNLLFAMAF LASTFSILAV SERAVQAKHV QFVSGVHVAS FWLSALLWDL 1150
ISFLIPSLLL LVVFKAFDVR AFTRDGHMAD TLLLLLLYGW AIIPLMYLMN 1200
FFFLGAATAY TRLTIFNILS GIATFLMVTI MRIPAVKLEE LSKTLDHVFL 1250
VLPNHCLGMA VSSFYENYET RRYCTSSEVA AHYCKKYNIQ YQENFYAWSA 1300
PGVGRFVASM AASGCAYLIL LFLIETNLLQ RLRGILCALR RRRTLTELYT 1350
RMPVLPEDQD VADERTRILA PSPDSLLHTP LIIKELSKVY EQRVPLLAVD 1400
RLSLAVQKGE CFGLLGFNGA GKTTTFKMLT GEESLTSGDA FVGGHRISSD 1450
VGKVRQRIGY CPQFDALLDH MTGREMLVMY ARLRGIPERH IGACVENTLR 1500
GLLLEPHANK LVRTYSGGNK RKLSTGIALI GEPAVIFLDE PSTGMDPVAR 1550
RLLWDTVARA RESGKAIIIT SHSMEECEAL CTRLAIMVQG QFKCLGSPQH 1600
LKSKFGSGYS LRAKVQSEGQ QEALEEFKAF VDLTFPGSVL EDEHQGMVHY 1650
HLPGRDLSWA KVFGILEKAK EKYGVDDYSV SQISLEQVFL SFAHLQPPTA 1700
EEGR 1704
Length:1,704
Mass (Da):191,362
Last modified:January 24, 2006 - v2
Checksum:i606735C504839D0D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti101 – 1011L → P in SMDP3. 1 Publication
Corresponds to variant rs28936412 [ dbSNP | Ensembl ].
VAR_023497
Natural varianti140 – 1401N → H.1 Publication
Corresponds to variant rs45447801 [ dbSNP | Ensembl ].
VAR_025061
Natural varianti290 – 2901L → M in a breast cancer sample; somatic mutation. 1 Publication
VAR_035728
Natural varianti568 – 5681N → D in SMDP3. 1 Publication
VAR_023498
Natural varianti766 – 7661P → S.1 Publication
Corresponds to variant rs45592239 [ dbSNP | Ensembl ].
VAR_025062
Natural varianti801 – 8011E → D in a breast cancer sample; somatic mutation. 1 Publication
VAR_035729
Natural varianti1069 – 10691H → Q in a breast cancer sample; somatic mutation. 1 Publication
VAR_035730
Natural varianti1553 – 15531L → P in SMDP3. 1 Publication
VAR_023499
Natural varianti1591 – 15911Q → P in SMDP3. 1 Publication
Corresponds to variant rs28936691 [ dbSNP | Ensembl ].
VAR_023500

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti36 – 361S → P in AAC50967. 1 Publication
Sequence conflicti196 – 1961P → L in AAC50967. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
BC140895 mRNA. Translation: AAI40896.1.
BC146866 mRNA. Translation: AAI46867.1.
CCDSiCCDS10466.1.
PIRiA59188.
S71363.
RefSeqiNP_001080.2. NM_001089.2.
UniGeneiHs.26630.

Genome annotation databases

EnsembliENST00000301732; ENSP00000301732; ENSG00000167972.
GeneIDi21.
KEGGihsa:21.
UCSCiuc002cpy.1. human.

Polymorphism databases

DMDMi85700402.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs
ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
BC140895 mRNA. Translation: AAI40896.1 .
BC146866 mRNA. Translation: AAI46867.1 .
CCDSi CCDS10466.1.
PIRi A59188.
S71363.
RefSeqi NP_001080.2. NM_001089.2.
UniGenei Hs.26630.

3D structure databases

ProteinModelPortali Q99758.
SMRi Q99758. Positions 527-832, 1302-1642.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106539. 2 interactions.
IntActi Q99758. 2 interactions.
MINTi MINT-6943242.
STRINGi 9606.ENSP00000301732.

Protein family/group databases

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

PTM databases

PhosphoSitei Q99758.

Polymorphism databases

DMDMi 85700402.

Proteomic databases

MaxQBi Q99758.
PaxDbi Q99758.
PRIDEi Q99758.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000301732 ; ENSP00000301732 ; ENSG00000167972 .
GeneIDi 21.
KEGGi hsa:21.
UCSCi uc002cpy.1. human.

Organism-specific databases

CTDi 21.
GeneCardsi GC16M002330.
HGNCi HGNC:33. ABCA3.
HPAi HPA007884.
MIMi 601615. gene.
610921. phenotype.
neXtProti NX_Q99758.
Orphaneti 264675. Congenital pulmonary alveolar proteinosis.
217563. Neonatal acute respiratory distress with surfactant metabolism deficiency.
PharmGKBi PA24378.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1131.
HOGENOMi HOG000006613.
HOVERGENi HBG050435.
KOi K05643.
OMAi LKTCICA.
OrthoDBi EOG7RNJZ8.
PhylomeDBi Q99758.
TreeFami TF105191.

Enzyme and pathway databases

Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

Miscellaneous databases

GeneWikii ABCA3.
GenomeRNAii 21.
NextBioi 61.
PROi Q99758.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q99758.
Bgeei Q99758.
CleanExi HS_ABCA3.
Genevestigatori Q99758.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR026969. ABCA3.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR19229. PTHR19229. 1 hit.
PTHR19229:SF98. PTHR19229:SF98. 1 hit.
Pfami PF00005. ABC_tran. 2 hits.
[Graphical view ]
SMARTi SM00382. AAA. 2 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein."
    Klugbauer N., Hofmann F.
    FEBS Lett. 391:61-65(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Thyroid carcinoma.
  2. "The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3."
    Connors T.D., van Raay T.J., Petry L.R., Klinger K.W., Landes G.M., Burn T.C.
    Genomics 39:231-234(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells."
    Yamano G., Funahashi H., Kawanami O., Zhao L., Ban N., Uchida Y., Morohoshi T., Ogawa J., Shioda S., Inagaki N.
    FEBS Lett. 508:221-225(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Lung.
  4. SeattleSNPs variation discovery resource
    Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-140 AND SER-766.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  7. "ABCA3 gene mutations in newborns with fatal surfactant deficiency."
    Shulenin S., Nogee L.M., Annilo T., Wert S.E., Whitsett J.A., Dean M.
    N. Engl. J. Med. 350:1296-1303(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SMDP3 PRO-101; ASP-568; PRO-1553 AND PRO-1591.
  8. Cited for: VARIANTS [LARGE SCALE ANALYSIS] MET-290; ASP-801 AND GLN-1069.

Entry informationi

Entry nameiABCA3_HUMAN
AccessioniPrimary (citable) accession number: Q99758
Secondary accession number(s): B2RU09, Q54A95, Q92473
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 24, 2006
Last modified: September 3, 2014
This is version 128 of the entry and version 2 of the sequence. [Complete history]
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.

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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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