• Gene id: 23

Gene Summary

• Gene Symbol: ABCF1   Gene   UCSC   Ensembl
• Aliases: ABC27, ABC50
• Gene name: ATP binding cassette subfamily F member 1
• Alternate names: ATP-binding cassette sub-family F member 1, ATP-binding cassette 50 (TNF-alpha stimulated), ATP-binding cassette, sub-family F (GCN20), member 1, TNF-alpha-stimulated ABC protein, TNFalpha-inducible ATP-binding protein,
• Gene location: 6p21.33 (30571441: 30591521)     Exons: 25     NC_000006.12
• Gene summary(Entrez): The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

SNPs

rs886039789

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

NC_000005.10   g.43615851C>G
NC_000005.10   g.43615851C>T
NC_000005.9   g.43615953C>G
NC_000005.9   g.43615953C>T
NG_032869.1   g.18163C>G
NG_032869.1   g.18163C>T
NM_182977.3   c.385C>G
NM_182977.3   c.385C>T
NM_182977.2   c.385C>G
NM_182977.2   c.385C>T
NM_012343.3   c.

rs606231461

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

NC_000015.10   g.51481268_51481282del
NC_000015.9   g.51773465_51773479del
NG_017155.1   g.146492_146506del
NM_015263.3   c.5827_5841del
NM_015263.4   c.5827_5841del
NM_001174116.1   c.5827_5841del
NM_001174116.2   c.5827_5841del
NM_001174117.1   c.3919_3933del
NM_0  

rs397515461

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

NC_000008.11   g.132632831G>A
NC_000008.10   g.133645077G>A
NG_033068.1   g.47787C>T
NM_012472.5   c.562C>T
NM_012472.6   c.562C>T
NM_012472.4   c.562C>T
NR_073525.2   n.686C>T
NR_073525.1   n.686C>T
NM_001321965.1   c.202C>T
NM_001321965.2   c.202C>T
NM_001321964.1   c.2

rs397515425

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

NC_000008.11   g.132632818dup
NC_000008.10   g.133645064dup
NG_033068.1   g.47801dup
NM_012472.5   c.576dup
NM_012472.6   c.576dup
NM_012472.4   c.576dup
NR_073525.2   n.700dup
NR_073525.1   n.700dup
NM_001321965.1   c.216dup
NM_001321965.2   c.216dup
NM_001321964.1   c.2

rs397515424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000008.11   g.132632794_132632795del
NC_000008.10   g.133645040_133645041del
NG_033068.1   g.47823_47824del
NM_012472.5   c.598_599del
NM_012472.6   c.598_599del
NM_012472.4   c.598_599del
NR_073525.2   n.722_723del
NR_073525.1   n.722_723del
NM_001321965.1   c.238

rs397515339

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

NC_000016.10   g.84170177dup
NC_000016.9   g.84203783dup
NG_021174.1   g.29919dup
NM_178452.6   c.1349dup
NM_178452.5   c.1349dup
NM_178452.4   c.1349dup
NM_001318756.1   c.641dup
XM_011522854.3   c.1397dup
XM_006721129.3   c.1349dup
XM_011522853.3   c.1397dup
XM_011522  

rs397514596

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

NC_000008.11   g.132656866C>G
NC_000008.10   g.133669112C>G
NG_033068.1   g.23752G>C
NM_012472.5   c.220G>C
NM_012472.6   c.220G>C
NM_012472.4   c.220G>C
NR_073525.2   n.344G>C
NR_073525.1   n.344G>C
NM_001321965.1   c.-454G>C
NM_001321965.2   c.-454G>C
NR_135912.1   n.10

rs267607227

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

NC_000016.10   g.84154748T>C
NC_000016.10   g.84154748T>G
NC_000016.9   g.84188353T>C
NC_000016.9   g.84188353T>G
NG_021174.1   g.14489T>C
NG_021174.1   g.14489T>G
NM_178452.6   c.524T>C
NM_178452.6   c.524T>G
NM_178452.5   c.524T>C
NM_178452.5   c.524T>G
NM_178452.4   c.

rs267607225

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

NC_000016.10   g.84159744C>T
NC_000016.9   g.84193349C>T
NG_021174.1   g.19485C>T
NM_178452.6   c.811C>T
NM_178452.5   c.811C>T
NM_178452.4   c.811C>T
NM_001318756.1   c.55C>T
XM_011522854.3   c.811C>T
XM_006721129.3   c.811C>T
XM_011522853.3   c.811C>T
XM_011522855.3   c

rs200321595

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

NC_000008.11   g.132632957C>G
NC_000008.10   g.133645203C>G
NG_033068.1   g.47661G>C
NM_012472.5   c.436G>C
NM_012472.6   c.436G>C
NM_012472.4   c.436G>C
NR_073525.2   n.560G>C
NR_073525.1   n.560G>C
NM_001321965.1   c.76G>C
NM_001321965.2   c.76G>C
NM_001321964.1   c.76G

rs141945265

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

NC_000008.11   g.132632819G>A
NC_000008.11   g.132632819G>C
NC_000008.10   g.133645065G>A
NC_000008.10   g.133645065G>C
NG_033068.1   g.47799C>T
NG_033068.1   g.47799C>G
NM_012472.5   c.574C>T
NM_012472.5   c.574C>G
NM_012472.6   c.574C>T
NM_012472.6   c.574C>G
NM_01247  

rs28368082

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

NC_000020.11   g.57335452C>T
NC_000020.10   g.55910508C>T
XM_005260382.4   c.631C>T
XM_005260382.1   c.631C>T
XM_005260379.3   c.631C>T
XM_005260379.1   c.631C>T
XM_005260380.3   c.631C>T
XM_005260380.1   c.631C>T
XM_005260381.3   c.631C>T
XM_005260381.1   c.631C>T
NM_0  

rs28368064

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

NC_000020.11   g.57330052G>A
NC_000020.11   g.57330052G>T
NC_000020.10   g.55905108G>A
NC_000020.10   g.55905108G>T|SEQ=[G/A/T]|GENE=SPO11
LOC105372687   105372687

rs28368062

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

NC_000020.11   g.57329973A>C
NC_000020.11   g.57329973A>G
NC_000020.11   g.57329973A>T
NC_000020.10   g.55905029A>C
NC_000020.10   g.55905029A>G
NC_000020.10   g.55905029A>T
XM_005260382.4   c.106A>C
XM_005260382.4   c.106A>G
XM_005260382.4   c.106A>T
XM_005260382.1   c

rs16895863

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

NC_000006.12   g.42603608A>T
NC_000006.11   g.42571346A>T
XM_005248966.3   c.-1554A>T
XR_001743284.2   n.1051A>T
XM_011514438.2   c.633A>T
NM_015255.2   c.552A>T
XM_017010595.1   c.633A>T
XM_017010596.1   c.552A>T
NM_001363705.1   c.552A>T
XM_017010594.1   c.633A>T
XR_0  

rs12323635

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

NC_000014.9   g.95159374C>T
NC_000014.8   g.95625711C>T
NG_016311.1   g.3049G>A|SEQ=[C/T]|GENE=DICER1
DICER1-AS1   400242

rs11467497

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

NC_000020.11   g.145515_145518CAAA[1]
NC_000020.10   g.126156_126159CAAA[1]
NM_030931.4   c.159_162CAAA[1]
NM_030931.3   c.159_162CAAA[1]
NP_112193.1   p.Gln55fs|SEQ=[CAAA/-]|GENE=DEFB126

rs3816183

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

NC_000002.12   g.42788579T>C
NC_000002.11   g.43015719T>C
XM_005264230.4   c.109A>G
XM_005264230.1   c.109A>G
XM_011532730.3   c.7A>G
XM_011532729.3   c.109A>G
XM_011532731.3   c.109A>G
NM_012205.3   c.109A>G
NM_012205.2   c.109A>G
XM_017003717.2   c.7A>G
XM_024452774.1  

rs3749897

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

NC_000006.12   g.42564364C>G
NC_000006.12   g.42564364C>T
NC_000006.11   g.42532102C>G
NC_000006.11   g.42532102C>T
XR_001743284.2   n.410C>G
XR_001743284.2   n.410C>T
XM_011514438.2   c.-9C>G
XM_011514438.2   c.-9C>T
NM_015255.2   c.45C>G
NM_015255.2   c.45C>T
XM_01701  

rs3736832

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

NC_000020.11   g.57333213A>G
NC_000020.10   g.55908269A>G
XM_005260382.4   c.271A>G
XM_005260382.1   c.271A>G
XM_005260379.3   c.271A>G
XM_005260379.1   c.271A>G
XM_005260380.3   c.271A>G
XM_005260380.1   c.271A>G
XM_005260381.3   c.271A>G
XM_005260381.1   c.271A>G
NM_0  

rs2057951

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

NC_000022.11   g.31334059A>G
NC_000022.10   g.31730045A>G|SEQ=[A/G]|GENE=PATZ1
PIK3IP1-DT   101929760

rs1048055

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

NC_000020.11   g.1629416A>C
NC_000020.10   g.1610062A>C
NM_018556.4   c.*223T>G
NM_018556.3   c.*223T>G
XM_005260749.4   c.*223T>G
XM_005260749.1   c.*223T>G
XM_011529286.2   c.*223T>G
NM_080816.2   c.*223T>G
NM_080816.3   c.*223T>G
NM_001039508.1   c.*223T>G|SEQ=[A/C]|

rs373341

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

NC_000006.12   g.42691014T>C
NC_000006.12   g.42691014T>G
NC_000006.11   g.42658752T>C
NC_000006.11   g.42658752T>G|SEQ=[T/C/G]|GENE=UBR2

rs13078

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

NC_000014.9   g.95090410A>C
NC_000014.9   g.95090410A>T
NC_000014.8   g.95556747A>C
NC_000014.8   g.95556747A>T
NG_016311.1   g.72013T>G
NG_016311.1   g.72013T>A
NM_030621.4   c.*88T>G
NM_030621.4   c.*88T>A
NM_030621.3   c.*88T>G
NM_030621.3   c.*88T>A
NM_177438.3   c.*8

rs1057035

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

NC_000014.9   g.95087805T>C
NC_000014.8   g.95554142T>C
NG_016311.1   g.74618A>G
NM_030621.4   c.*2693A>G
NM_030621.3   c.*2693A>G
NM_177438.3   c.*2693A>G
NM_177438.2   c.*2693A>G
NM_001271282.3   c.*2693A>G
NM_001271282.2   c.*2693A>G
NM_001291628.1   c.*2693A>G
NM_00  

rs3747052

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

NC_000022.11   g.19131479A>G
NC_000022.11   g.19131479A>T
NC_000022.10   g.19118992A>G
NC_000022.10   g.19118992A>T
NG_008320.1   g.18199T>C
NG_008320.1   g.18199T>A
NM_022719.3   c.*2717T>C
NM_022719.3   c.*2717T>A
NM_022719.2   c.*2717T>C
NM_022719.2   c.*2717T>A
NR_1  

rs1052756

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

NC_000022.11   g.19132173C>T
NC_000022.10   g.19119686C>T
NG_008320.1   g.17505G>A
NM_022719.3   c.*2023G>A
NM_022719.2   c.*2023G>A
NR_134304.2   n.3542G>A
NR_134304.1   n.3568G>A
NM_053006.5   c.774C>T
NM_053006.4   c.774C>T|SEQ=[C/T]|GENE=ESS2
TSSK2   23617

rs1052763

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

NC_000022.11   g.19132238C>T
NC_000022.10   g.19119751C>T
NG_008320.1   g.17440G>A
NM_022719.3   c.*1958G>A
NM_022719.2   c.*1958G>A
NR_134304.2   n.3477G>A
NR_134304.1   n.3503G>A
NM_053006.5   c.839C>T
NM_053006.4   c.839C>T
NP_443732.3   p.Thr280Met|SEQ=[C/T]|GENE=ES

rs1052773

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

NC_000022.11   g.19132425G>A
NC_000022.10   g.19119938G>A
NG_008320.1   g.17253C>T
NM_022719.3   c.*1771C>T
NM_022719.2   c.*1771C>T
NR_134304.2   n.3290C>T
NR_134304.1   n.3316C>T
NM_053006.5   c.1026G>A
NM_053006.4   c.1026G>A|SEQ=[G/A]|GENE=ESS2
TSSK2   23617

rs3742330

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

NC_000014.9   g.95087025A>G
NC_000014.8   g.95553362A>G
NG_016311.1   g.75398T>C
NM_030621.4   c.*3473T>C
NM_030621.3   c.*3473T>C
NM_177438.3   c.*3473T>C
NM_177438.2   c.*3473T>C
NM_001271282.3   c.*3473T>C
NM_001271282.2   c.*3473T>C
NM_001291628.1   c.*3473T>C
NM_00  

rs2281807

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

NC_000020.11   g.1629555C>T
NC_000020.10   g.1610201C>T
NM_018556.4   c.*84G>A
NM_018556.3   c.*84G>A
XM_005260749.4   c.*84G>A
XM_005260749.1   c.*84G>A
XM_011529286.2   c.*84G>A
NM_080816.2   c.*84G>A
NM_080816.3   c.*84G>A
NM_001039508.1   c.*84G>A|SEQ=[C/T]|GENE=SIR

rs140685149

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

NC_000020.11   g.145673_145674del
NC_000020.11   g.145674del
NC_000020.11   g.145674dup
NC_000020.10   g.126314_126315del
NC_000020.10   g.126315del
NC_000020.10   g.126315dup
NM_030931.4   c.317_318del
NM_030931.4   c.318del
NM_030931.4   c.318dup
NM_030931.3   c.317_3

rs140132974

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

NC_000009.12   g.135697628C>T
NC_000009.11   g.138589474C>T
NG_033070.1   g.444C>T
NG_033784.1   g.6901G>A|SEQ=[C/T]|GENE=SOHLH1

rs1545125

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

NC_000007.14   g.51083534A>G
NC_000007.13   g.51151231A>G
NG_051816.1   g.238328T>C|SEQ=[A/G]|GENE=COBL

Protein Summary

• Protein general information: Q8NE71  
  • Name: ATP binding cassette sub family F member 1 (ATP binding cassette 50) (TNF alpha stimulated ABC protein)
  • Length: 845  
  • Mass: 95926
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MPKAPKQQPPEPEWIGDGESTSPSDKVVKKGKKDKKIKKTFFEELAVEDKQAGEEEKVLKEKEQQQQQQQQQQKK
  KRDTRKGRRKKDVDDDGEEKELMERLKKLSVPTSDEEDEVPAPKPRGGKKTKGGNVFAALIQDQSEEEEEEEKHP
  PKPAKPEKNRINKAVSEEQQPALKGKKGKEEKSKGKAKPQNKFAALDNEEEDKEEEIIKEKEPPKQGKEKAKKAE
  QGSEEEGEGEEEEEEGGESKADDPYAHLSKKEKKKLKKQMEYERQVASLKAANAAENDFSVSQAEMSSRQAMLEN
  ASDIKLEKFSISAHGKELFVNADLYIVAGRRYGLVGPNGKGKTTLLKHIANRALSIPPNIDVLLCEQEVVADETP
  AVQAVLRADTKRLKLLEEERRLQGQLEQGDDTAAERLEKVYEELRATGAAAAEAKARRILAGLGFDPEMQNRPTQ
  KFSGGWRMRVSLARALFMEPTLLMLDEPTNHLDLNAVIWLNNYLQGWRKTLLIVSHDQGFLDDVCTDIIHLDAQR
  LHYYRGNYMTFKKMYQQKQKELLKQYEKQEKKLKELKAGGKSTKQAEKQTKEALTRKQQKCRRKNQDEESQEAPE
  LLKRPKEYTVRFTFPDPPPLSPPVLGLHGVTFGYQGQKPLFKNLDFGIDMDSRICIVGPNGVGKSTLLLLLTGKL
  TPTHGEMRKNHRLKIGFFNQQYAEQLRMEETPTEYLQRGFNLPYQDARKCLGRFGLESHAHTIQICKLSGGQKAR
  VVFAELACREPDVLILDEPTNNLDIESIDALGEAINEYKGAVIVVSHDARLITETNCQLWVVEEQSVSQIDGDFE
  DYKREVLEALGEVMVSRPRE

• Structural information:
  • Protein Domains: (304..54-)
    1 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434-)
    (625..84-)
    2 (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR032781  IPR003439  IPR017871  IPR027417  
  • Prosite: PS00211 PS50893
  • PDB: 5ZXD
  • PDBsum: 5ZXD
  • DIP: 50666
  • STRING: ENSP00000313603
• Other Databases: GeneCards:  ABCF1  Malacards:  ABCF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005524	ATP binding	IBA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0008135	translation factor activity, RNA binding	TAS	molecular function
GO:0006954	inflammatory response	TAS	biological process
GO:0006412	translation	TAS	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005840	ribosome	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray