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Q99758 (ABCA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ABCA3
Synonyms:ABC3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1704 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

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.

Domain

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

Involvement in disease

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. Ref.7

Sequence similarities

Belongs to the ABC transporter superfamily. ABCA family.

Contains 2 ABC transporter domains.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 17041704ATP-binding cassette sub-family A member 3
PRO_0000093293

Regions

Transmembrane22 – 4221Helical; Potential
Transmembrane261 – 28323Helical; Potential
Transmembrane307 – 32721Helical; Potential
Transmembrane344 – 36421Helical; Potential
Transmembrane373 – 39321Helical; Potential
Transmembrane405 – 42521Helical; Potential
Transmembrane447 – 46721Helical; Potential
Transmembrane925 – 94521Helical; Potential
Transmembrane1100 – 112021Helical; Potential
Transmembrane1144 – 116421Helical; Potential
Transmembrane1183 – 120321Helical; Potential
Transmembrane1213 – 123321Helical; Potential
Transmembrane1245 – 126521Helical; Potential
Transmembrane1306 – 132621Helical; Potential
Domain530 – 763234ABC transporter 1
Domain1381 – 1614234ABC transporter 2
Nucleotide binding566 – 5738ATP 1 Potential
Nucleotide binding1416 – 14238ATP 2 Potential

Natural variations

Natural variant1011L → P in SMDP3. Ref.7
Corresponds to variant rs28936412 [ dbSNP | Ensembl ].
VAR_023497
Natural variant1401N → H. Ref.4
Corresponds to variant rs45447801 [ dbSNP | Ensembl ].
VAR_025061
Natural variant2901L → M in a breast cancer sample; somatic mutation. Ref.8
VAR_035728
Natural variant5681N → D in SMDP3. Ref.7
VAR_023498
Natural variant7661P → S. Ref.4
Corresponds to variant rs45592239 [ dbSNP | Ensembl ].
VAR_025062
Natural variant8011E → D in a breast cancer sample; somatic mutation. Ref.8
VAR_035729
Natural variant10691H → Q in a breast cancer sample; somatic mutation. Ref.8
VAR_035730
Natural variant15531L → P in SMDP3. Ref.7
VAR_023499
Natural variant15911Q → P in SMDP3. Ref.7
Corresponds to variant rs28936691 [ dbSNP | Ensembl ].
VAR_023500

Experimental info

Sequence conflict361S → P in AAC50967. Ref.1
Sequence conflict1961P → L in AAC50967. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q99758 [UniParc].

Last modified January 24, 2006. Version 2.
Checksum: 606735C504839D0D

FASTA1,704191,362
        10         20         30         40         50         60 
MAVLRQLALL LWKNYTLQKR KVLVTVLELF LPLLFSGILI WLRLKIQSEN VPNATIYPGQ 

        70         80         90        100        110        120 
SIQELPLFFT FPPPGDTWEL AYIPSHSDAA KTVTETVRRA LVINMRVRGF PSEKDFEDYI 

       130        140        150        160        170        180 
RYDNCSSSVL AAVVFEHPFN HSKEPLPLAV KYHLRFSYTR RNYMWTQTGS FFLKETEGWH 

       190        200        210        220        230        240 
TTSLFPLFPN PGPREPTSPD GGEPGYIREG FLAVQHAVDR AIMEYHADAA TRQLFQRLTV 

       250        260        270        280        290        300 
TIKRFPYPPF IADPFLVAIQ YQLPLLLLLS FTYTALTIAR AVVQEKERRL KEYMRMMGLS 

       310        320        330        340        350        360 
SWLHWSAWFL LFFLFLLIAA SFMTLLFCVK VKPNVAVLSR SDPSLVLAFL LCFAISTISF 

       370        380        390        400        410        420 
SFMVSTFFSK ANMAAAFGGF LYFFTYIPYF FVAPRYNWMT LSQKLCSCLL SNVAMAMGAQ 

       430        440        450        460        470        480 
LIGKFEAKGM GIQWRDLLSP VNVDDDFCFG QVLGMLLLDS VLYGLVTWYM EAVFPGQFGV 

       490        500        510        520        530        540 
PQPWYFFIMP SYWCGKPRAV AGKEEEDSDP EKALRNEYFE AEPEDLVAGI KIKHLSKVFR 

       550        560        570        580        590        600 
VGNKDRAAVR DLNLNLYEGQ ITVLLGHNGA GKTTTLSMLT GLFPPTSGRA YISGYEISQD 

       610        620        630        640        650        660 
MVQIRKSLGL CPQHDILFDN LTVAEHLYFY AQLKGLSRQK CPEEVKQMLH IIGLEDKWNS 

       670        680        690        700        710        720 
RSRFLSGGMR RKLSIGIALI AGSKVLILDE PTSGMDAISR RAIWDLLQRQ KSDRTIVLTT 

       730        740        750        760        770        780 
HFMDEADLLG DRIAIMAKGE LQCCGSSLFL KQKYGAGYHM TLVKEPHCNP EDISQLVHHH 

       790        800        810        820        830        840 
VPNATLESSA GAELSFILPR ESTHRFEGLF AKLEKKQKEL GIASFGASIT TMEEVFLRVG 

       850        860        870        880        890        900 
KLVDSSMDIQ AIQLPALQYQ HERRASDWAV DSNLCGAMDP SDGIGALIEE ERTAVKLNTG 

       910        920        930        940        950        960 
LALHCQQFWA MFLKKAAYSW REWKMVAAQV LVPLTCVTLA LLAINYSSEL FDDPMLRLTL 

       970        980        990       1000       1010       1020 
GEYGRTVVPF SVPGTSQLGQ QLSEHLKDAL QAEGQEPREV LGDLEEFLIF RASVEGGGFN 

      1030       1040       1050       1060       1070       1080 
ERCLVAASFR DVGERTVVNA LFNNQAYHSP ATALAVVDNL LFKLLCGPHA SIVVSNFPQP 

      1090       1100       1110       1120       1130       1140 
RSALQAAKDQ FNEGRKGFDI ALNLLFAMAF LASTFSILAV SERAVQAKHV QFVSGVHVAS 

      1150       1160       1170       1180       1190       1200 
FWLSALLWDL ISFLIPSLLL LVVFKAFDVR AFTRDGHMAD TLLLLLLYGW AIIPLMYLMN 

      1210       1220       1230       1240       1250       1260 
FFFLGAATAY TRLTIFNILS GIATFLMVTI MRIPAVKLEE LSKTLDHVFL VLPNHCLGMA 

      1270       1280       1290       1300       1310       1320 
VSSFYENYET RRYCTSSEVA AHYCKKYNIQ YQENFYAWSA PGVGRFVASM AASGCAYLIL 

      1330       1340       1350       1360       1370       1380 
LFLIETNLLQ RLRGILCALR RRRTLTELYT RMPVLPEDQD VADERTRILA PSPDSLLHTP 

      1390       1400       1410       1420       1430       1440 
LIIKELSKVY EQRVPLLAVD RLSLAVQKGE CFGLLGFNGA GKTTTFKMLT GEESLTSGDA 

      1450       1460       1470       1480       1490       1500 
FVGGHRISSD VGKVRQRIGY CPQFDALLDH MTGREMLVMY ARLRGIPERH IGACVENTLR 

      1510       1520       1530       1540       1550       1560 
GLLLEPHANK LVRTYSGGNK RKLSTGIALI GEPAVIFLDE PSTGMDPVAR RLLWDTVARA 

      1570       1580       1590       1600       1610       1620 
RESGKAIIIT SHSMEECEAL CTRLAIMVQG QFKCLGSPQH LKSKFGSGYS LRAKVQSEGQ 

      1630       1640       1650       1660       1670       1680 
QEALEEFKAF VDLTFPGSVL EDEHQGMVHY HLPGRDLSWA KVFGILEKAK EKYGVDDYSV 

      1690       1700 
SQISLEQVFL SFAHLQPPTA EEGR 

« Hide

References

« Hide 'large scale' references
[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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] MET-290; ASP-801 AND GLN-1069.
+Additional computationally mapped references.

Web resources

GeneReviews
SeattleSNPs
ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA59188.
S71363.
RefSeqNP_001080.2. NM_001089.2.
UniGeneHs.26630.

3D structure databases

ProteinModelPortalQ99758.
SMRQ99758. Positions 527-832, 1302-1642.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106539. 2 interactions.
IntActQ99758. 2 interactions.
MINTMINT-6943242.
STRING9606.ENSP00000301732.

Protein family/group databases

TCDB3.A.1.211.5. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSiteQ99758.

Polymorphism databases

DMDM85700402.

Proteomic databases

PaxDbQ99758.
PRIDEQ99758.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000301732; ENSP00000301732; ENSG00000167972.
GeneID21.
KEGGhsa:21.
UCSCuc002cpy.1. human.

Organism-specific databases

CTD21.
GeneCardsGC16M002330.
HGNCHGNC:33. ABCA3.
HPAHPA007884.
MIM601615. gene.
610921. phenotype.
neXtProtNX_Q99758.
Orphanet264675. Congenital pulmonary alveolar proteinosis.
217563. Neonatal acute respiratory distress with surfactant metabolism deficiency.
PharmGKBPA24378.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1131.
HOGENOMHOG000006613.
HOVERGENHBG050435.
KOK05643.
OMAYHANTSA.
OrthoDBEOG7RNJZ8.
PhylomeDBQ99758.
TreeFamTF105191.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ99758.
BgeeQ99758.
CleanExHS_ABCA3.
GenevestigatorQ99758.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR026969. ABCA3.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR19229. PTHR19229. 1 hit.
PTHR19229:SF24. PTHR19229:SF24. 1 hit.
PfamPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiABCA3.
GenomeRNAi21.
NextBio61.
PROQ99758.
SOURCESearch...

Entry information

Entry nameABCA3_HUMAN
AccessionPrimary (citable) accession number: Q99758
Secondary accession number(s): B2RU09, Q54A95, Q92473
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 24, 2006
Last modified: April 16, 2014
This is version 124 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM