• Gene id: 21

Gene Summary

• Gene Symbol: ABCA3   Gene   UCSC   Ensembl
• Aliases: ABC-C, ABC3, EST111653, LBM180, SMDP3
• Gene name: ATP binding cassette subfamily A member 3
• Alternate names: ATP-binding cassette sub-family A member 3, ABC transporter 3, ABC-C transporter, ATP-binding cassette transporter 3, ATP-binding cassette, sub-family A (ABC1), member 3,
• Gene location: 16p13.3 (2340727: 2275880)     Exons: 33     NC_000016.10
• Gene summary(Entrez): The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct
• OMIM: 607175

SNPs

rs1131692266

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104225491G>T
NC_000010.10   g.105985249G>T
NG_051581.1   g.11887C>A
NM_025145.6   c.386C>A
NM_025145.5   c.386C>A
XM_005270172.3   c.386C>A
XM_005270172.1   c.386C>A
XM_011540196.2   c.386C>A
XM_011540197.2   c.386C>A
XM_005270171.2   c.386C>A
XM_005270  

rs768831533

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104143452G>A
NC_000010.11   g.104143452G>C
NC_000010.11   g.104143452G>T
NC_000010.10   g.105903210G>A
NC_000010.10   g.105903210G>C
NC_000010.10   g.105903210G>T
NG_051581.1   g.93926C>T
NG_051581.1   g.93926C>G
NG_051581.1   g.93926C>A
NM_025145.6   c

rs397515340

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000006.12   g.43670919_43670921GAA[1]
NC_000006.12   g.43670919_43670921GAA[3]
NC_000006.11   g.43638656_43638658GAA[1]
NC_000006.11   g.43638656_43638658GAA[3]
NG_023436.1   g.30890_30892GAA[1]
NG_023436.1   g.30890_30892GAA[3]
NM_152732.5   c.801_803GAA[1]
NM  

rs376788209

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104230656G>A
NC_000010.10   g.105990414G>A
NG_051581.1   g.6722C>T
NM_025145.6   c.253C>T
NM_025145.5   c.253C>T
XM_005270172.3   c.253C>T
XM_005270172.1   c.253C>T
XM_011540196.2   c.253C>T
XM_011540197.2   c.253C>T
XM_005270171.2   c.253C>T
XM_0052701  

rs373911488

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.104167627A>G
NC_000010.11   g.104167627A>T
NC_000010.10   g.105927385A>G
NC_000010.10   g.105927385A>T
NG_051581.1   g.69751T>C
NG_051581.1   g.69751T>A
NM_025145.6   c.2802T>C
NM_025145.6   c.2802T>A
NM_025145.5   c.2802T>C
NM_025145.5   c.2802T>A
XM_0  

rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

rs7004637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs2231599

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs1256049

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64257333C>T
NC_000014.8   g.64724051C>T
NG_011535.1   g.86218G>A
NM_001291712.2   c.984G>A
NM_001291712.1   c.984G>A
NM_001437.2   c.984G>A
NM_001291723.1   c.984G>A
NM_001040275.1   c.984G>A
NM_001214902.1   c.984G>A
NM_001271876.1   c.984G>A
NR_073497.  

rs2987983

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64296935A>G
NC_000014.8   g.64763653A>G
NG_011535.1   g.46616T>C|SEQ=[A/G]|GENE=ESR2

rs1256030

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64280452A>G
NC_000014.9   g.64280452A>T
NC_000014.8   g.64747170A>G
NC_000014.8   g.64747170A>T
NG_011535.1   g.63099T>C
NG_011535.1   g.63099T>A|SEQ=[A/G/T]|GENE=ESR2

rs7910927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63379150T>A
NC_000010.11   g.63379150T>G
NC_000010.10   g.65138910T>A
NC_000010.10   g.65138910T>G
NG_053187.1   g.147926A>T
NG_053187.1   g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C

rs10822184

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.63577393T>C
NC_000010.11   g.63577393T>G
NC_000010.10   g.65337153T>C
NC_000010.10   g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3

rs757773924

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs2302075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.5753815C>A
NC_000004.12   g.5753815C>G
NC_000004.12   g.5753815C>T
NC_000004.11   g.5755542C>A
NC_000004.11   g.5755542C>G
NC_000004.11   g.5755542C>T
NG_008843.1   g.47619C>A
NG_008843.1   g.47619C>G
NG_008843.1   g.47619C>T
NM_153717.3   c.1346C>A
NM_  

rs4986938

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64233098C>T
NC_000014.8   g.64699816C>T
NG_011535.1   g.110453G>A
NM_001437.2   c.*39G>A
NR_073497.1   n.1600G>A
NM_001271877.1   c.*39G>A
XM_017021080.1   c.*39G>A
XM_017021079.1   c.*39G>A
XM_017021081.1   c.*39G>A
XM_017021082.1   c.*39G>A
XM_01702108  

rs3212293

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

rs1256063

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64235499A>G
NC_000014.9   g.64235499A>T
NC_000014.8   g.64702217A>G
NC_000014.8   g.64702217A>T
NG_011535.1   g.108052T>C
NG_011535.1   g.108052T>A|SEQ=[A/G/T]|GENE=ESR2

rs944050

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.64233327T>C
NC_000014.8   g.64700045T>C
NG_011535.1   g.110224A>G|SEQ=[T/C]|GENE=ESR2

Protein Summary

• Protein general information: Q99758  
  • Name: ATP binding cassette sub family A member 3 (ABC C transporter) (ATP binding cassette transporter 3) (ATP binding cassette 3)
  • Length: 1704  
  • Mass: 191362
  • 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.
• Sequence:

  MAVLRQLALLLWKNYTLQKRKVLVTVLELFLPLLFSGILIWLRLKIQSENVPNATIYPGQSIQELPLFFTFPPPG
  DTWELAYIPSHSDAAKTVTETVRRALVINMRVRGFPSEKDFEDYIRYDNCSSSVLAAVVFEHPFNHSKEPLPLAV
  KYHLRFSYTRRNYMWTQTGSFFLKETEGWHTTSLFPLFPNPGPREPTSPDGGEPGYIREGFLAVQHAVDRAIMEY
  HADAATRQLFQRLTVTIKRFPYPPFIADPFLVAIQYQLPLLLLLSFTYTALTIARAVVQEKERRLKEYMRMMGLS
  SWLHWSAWFLLFFLFLLIAASFMTLLFCVKVKPNVAVLSRSDPSLVLAFLLCFAISTISFSFMVSTFFSKANMAA
  AFGGFLYFFTYIPYFFVAPRYNWMTLSQKLCSCLLSNVAMAMGAQLIGKFEAKGMGIQWRDLLSPVNVDDDFCFG
  QVLGMLLLDSVLYGLVTWYMEAVFPGQFGVPQPWYFFIMPSYWCGKPRAVAGKEEEDSDPEKALRNEYFEAEPED
  LVAGIKIKHLSKVFRVGNKDRAAVRDLNLNLYEGQITVLLGHNGAGKTTTLSMLTGLFPPTSGRAYISGYEISQD
  MVQIRKSLGLCPQHDILFDNLTVAEHLYFYAQLKGLSRQKCPEEVKQMLHIIGLEDKWNSRSRFLSGGMRRKLSI
  GIALIAGSKVLILDEPTSGMDAISRRAIWDLLQRQKSDRTIVLTTHFMDEADLLGDRIAIMAKGELQCCGSSLFL
  KQKYGAGYHMTLVKEPHCNPEDISQLVHHHVPNATLESSAGAELSFILPRESTHRFEGLFAKLEKKQKELGIASF
  GASITTMEEVFLRVGKLVDSSMDIQAIQLPALQYQHERRASDWAVDSNLCGAMDPSDGIGALIEEERTAVKLNTG
  LALHCQQFWAMFLKKAAYSWREWKMVAAQVLVPLTCVTLALLAINYSSELFDDPMLRLTLGEYGRTVVPFSVPGT
  SQLGQQLSEHLKDALQAEGQEPREVLGDLEEFLIFRASVEGGGFNERCLVAASFRDVGERTVVNALFNNQAYHSP
  ATALAVVDNLLFKLLCGPHASIVVSNFPQPRSALQAAKDQFNEGRKGFDIALNLLFAMAFLASTFSILAVSERAV
  QAKHVQFVSGVHVASFWLSALLWDLISFLIPSLLLLVVFKAFDVRAFTRDGHMADTLLLLLLYGWAIIPLMYLMN
  FFFLGAATAYTRLTIFNILSGIATFLMVTIMRIPAVKLEELSKTLDHVFLVLPNHCLGMAVSSFYENYETRRYCT
  SSEVAAHYCKKYNIQYQENFYAWSAPGVGRFVASMAASGCAYLILLFLIETNLLQRLRGILCALRRRRTLTELYT
  RMPVLPEDQDVADERTRILAPSPDSLLHTPLIIKELSKVYEQRVPLLAVDRLSLAVQKGECFGLLGFNGAGKTTT
  FKMLTGEESLTSGDAFVGGHRISSDVGKVRQRIGYCPQFDALLDHMTGREMLVMYARLRGIPERHIGACVENTLR
  GLLLEPHANKLVRTYSGGNKRKLSTGIALIGEPAVIFLDEPSTGMDPVARRLLWDTVARARESGKAIIITSHSME
  ECEALCTRLAIMVQGQFKCLGSPQHLKSKFGSGYSLRAKVQSEGQQEALEEFKAFVDLTFPGSVLEDEHQGMVHY
  HLPGRDLSWAKVFGILEKAKEKYGVDDYSVSQISLEQVFLSFAHLQPPTAEEGR

• Structural information:
  • Protein Domains: (530..76-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (1381..161-)
    2 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR003439  IPR017871  IPR026082  IPR026969   IPR027417  
  • Prosite: PS00211 PS50893
  • STRING: ENSP00000301732
• Other Databases: GeneCards:  ABCA3  Malacards:  ABCA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IDA	cellular component
GO:0005319	lipid transporter activity	IBA	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006869	lipid transport	IBA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042493	response to drug	TAS	biological process
GO:0097208	alveolar lamellar body	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0097232	lamellar body membrane	TAS	cellular component
GO:0005319	lipid transporter activity	TAS	molecular function
GO:0097233	alveolar lamellar body membrane	IEA	cellular component
GO:0097233	alveolar lamellar body membrane	IEA	cellular component
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005615	extracellular space	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Congenital pulmonary alveolar proteinosis	KEGG:H01122
Congenital pulmonary alveolar proteinosis	KEGG:H01122
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq