Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | X-linked congenital hemolytic anemia | | ISO | ATP11C (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | X-linked congenital hemolytic anemia | | ISO | ATP11C (Homo sapiens) | 7240710 | | OMIM | | |
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ATP11C (Sus scrofa - pig) |
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ATP11C (Homo sapiens - human) |
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Atp11c (Mus musculus - house mouse) |
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Atp11c (Rattus norvegicus - Norway rat) |
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Atp11c (Chinchilla lanigera - long-tailed chinchilla) |
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ATP11C (Pan paniscus - bonobo/pygmy chimpanzee) |
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ATP11C (Canis lupus familiaris - dog) |
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Atp11c (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ATP11C (Chlorocebus sabaeus - green monkey) |
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Atp11c (Heterocephalus glaber - naked mole-rat) |
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Variants in ATP11C
2018 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | hemolymphoid system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | |
High | |||||||||
Medium | 2 | 4 | 2 | 1 | 2 | ||||
Low | 10 | 2 | 3 | 1 | 2 | 23 | 2 | 1 | |
Below cutoff |
RefSeq Transcripts | XM_021080194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_021080196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080198 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080199 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080201 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080202 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021080203 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002340696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002340697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002340698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AEMK02000122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CU582842 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GFLN01075160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000013899 ⟹ ENSSSCP00000013516 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000035711 ⟹ ENSSSCP00000030837 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000036522 ⟹ ENSSSCP00000030961 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000038310 ⟹ ENSSSCP00000046821 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000044077 ⟹ ENSSSCP00000034531 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000046314 ⟹ ENSSSCP00000042697 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000049594 ⟹ ENSSSCP00000041002 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000053041 ⟹ ENSSSCP00000033803 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000063255 ⟹ ENSSSCP00000034502 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000065618 ⟹ ENSSSCP00000052759 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_021080194 ⟹ XP_020935853 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080196 ⟹ XP_020935855 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080197 ⟹ XP_020935856 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080198 ⟹ XP_020935857 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080199 ⟹ XP_020935858 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080200 ⟹ XP_020935859 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080201 ⟹ XP_020935860 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080202 ⟹ XP_020935861 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021080203 ⟹ XP_020935862 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_002340696 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_002340697 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_002340698 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_020935853 | (Get FASTA) | NCBI Sequence Viewer |
XP_020935855 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020935856 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020935857 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020935858 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020935859 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020935860 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020935861 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020935862 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSSSCP00000013516 | ||
ENSSSCP00000013516.3 | |||
ENSSSCP00000030837.4 | |||
ENSSSCP00000030961 | |||
ENSSSCP00000030961.2 | |||
ENSSSCP00000033803.3 | |||
ENSSSCP00000034502.3 | |||
ENSSSCP00000034531 | |||
ENSSSCP00000034531.1 | |||
ENSSSCP00000041002.3 | |||
ENSSSCP00000042697 | |||
ENSSSCP00000042697.1 | |||
ENSSSCP00000046821.2 | |||
ENSSSCP00005012214.1 | |||
ENSSSCP00015007013.1 | |||
ENSSSCP00015007070.1 | |||
ENSSSCP00015007111.1 | |||
ENSSSCP00015007128.1 | |||
ENSSSCP00015007157.1 | |||
ENSSSCP00015007168.1 | |||
ENSSSCP00015007210.1 | |||
ENSSSCP00015007237.1 | |||
ENSSSCP00015007261.1 | |||
ENSSSCP00015007295.1 | |||
ENSSSCP00025027733.1 | |||
ENSSSCP00025027929.1 | |||
ENSSSCP00025028126.1 | |||
ENSSSCP00025028362.1 | |||
ENSSSCP00025028567.1 | |||
ENSSSCP00025028751.1 | |||
ENSSSCP00025028926.1 | |||
ENSSSCP00025029117.1 | |||
ENSSSCP00025029311.1 | |||
ENSSSCP00025029506.1 | |||
ENSSSCP00035023974.1 | |||
ENSSSCP00035023976.1 | |||
ENSSSCP00035023979.1 | |||
ENSSSCP00035023981.1 | |||
ENSSSCP00035023985.1 | |||
ENSSSCP00035023988.1 | |||
ENSSSCP00035023990.1 | |||
ENSSSCP00035023995.1 | |||
ENSSSCP00035023997.1 | |||
ENSSSCP00035023999.1 | |||
ENSSSCP00045010408.1 | |||
ENSSSCP00045010523.1 | |||
ENSSSCP00045010645.1 | |||
ENSSSCP00045010729.1 | |||
ENSSSCP00045010793.1 | |||
ENSSSCP00045010889.1 | |||
ENSSSCP00045010973.1 | |||
ENSSSCP00045011070.1 | |||
ENSSSCP00045011179.1 | |||
ENSSSCP00045011255.1 | |||
ENSSSCP00055001725.1 | |||
ENSSSCP00055001740.1 | |||
ENSSSCP00060001531.1 | |||
ENSSSCP00060001534.1 | |||
ENSSSCP00060001547.1 | |||
ENSSSCP00060001555.1 | |||
ENSSSCP00065007899.1 | |||
ENSSSCP00065007908.1 | |||
ENSSSCP00065007912.1 | |||
ENSSSCP00065007916.1 | |||
ENSSSCP00065007918.1 | |||
ENSSSCP00065007920.1 | |||
ENSSSCP00065007922.1 | |||
ENSSSCP00065007924.1 | |||
ENSSSCP00065007925.1 | |||
ENSSSCP00065007926.1 |
RefSeq Acc Id: | XP_020935858 ⟸ XM_021080199 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8D1SJ07 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020935853 ⟸ XM_021080194 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8D1SMG5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020935855 ⟸ XM_021080196 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8D0TWE6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020935859 ⟸ XM_021080200 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8D1GXG8 (UniProtKB/TrEMBL), F1RQ73 (UniProtKB/TrEMBL), A0A8D1SMG5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020935862 ⟸ XM_021080203 |
- Peptide Label: | isoform X9 |
- UniProtKB: | A0A286ZST4 (UniProtKB/TrEMBL), A0A8D1CVS0 (UniProtKB/TrEMBL), A0A8D1SJ07 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020935861 ⟸ XM_021080202 |
- Peptide Label: | isoform X8 |
- UniProtKB: | A0A8D1H5W9 (UniProtKB/TrEMBL), K7GSS2 (UniProtKB/TrEMBL), A0A8D1SIY8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020935856 ⟸ XM_021080197 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8D1SHX2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020935857 ⟸ XM_021080198 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8D1SIY8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020935860 ⟸ XM_021080201 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A287AFD7 (UniProtKB/TrEMBL), A0A8D0MQD0 (UniProtKB/TrEMBL), A0A8D1SHX2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000041002 ⟸ ENSSSCT00000049594 |
RefSeq Acc Id: | ENSSSCP00000034531 ⟸ ENSSSCT00000044077 |
RefSeq Acc Id: | ENSSSCP00000052759 ⟸ ENSSSCT00000065618 |
RefSeq Acc Id: | ENSSSCP00000030837 ⟸ ENSSSCT00000035711 |
RefSeq Acc Id: | ENSSSCP00000030961 ⟸ ENSSSCT00000036522 |
RefSeq Acc Id: | ENSSSCP00000042697 ⟸ ENSSSCT00000046314 |
RefSeq Acc Id: | ENSSSCP00000033803 ⟸ ENSSSCT00000053041 |
RefSeq Acc Id: | ENSSSCP00000034502 ⟸ ENSSSCT00000063255 |
RefSeq Acc Id: | ENSSSCP00000046821 ⟸ ENSSSCT00000038310 |
RefSeq Acc Id: | ENSSSCP00000013516 ⟸ ENSSSCT00000013899 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000012713 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00005012199 | UniProtKB/TrEMBL | |
ENSSSCG00015013400 | UniProtKB/TrEMBL | |
ENSSSCG00025046672 | UniProtKB/TrEMBL | |
ENSSSCG00035044773 | UniProtKB/TrEMBL | |
ENSSSCG00045008489 | UniProtKB/TrEMBL | |
ENSSSCG00055001215 | UniProtKB/TrEMBL | |
ENSSSCG00060003636 | UniProtKB/TrEMBL | |
ENSSSCG00065014314 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000013899 | ENTREZGENE |
ENSSSCT00000013899.3 | UniProtKB/TrEMBL | |
ENSSSCT00000035711.4 | UniProtKB/TrEMBL | |
ENSSSCT00000036522 | ENTREZGENE | |
ENSSSCT00000036522.4 | UniProtKB/TrEMBL | |
ENSSSCT00000038310.3 | UniProtKB/TrEMBL | |
ENSSSCT00000044077 | ENTREZGENE | |
ENSSSCT00000044077.1 | UniProtKB/TrEMBL | |
ENSSSCT00000046314 | ENTREZGENE | |
ENSSSCT00000046314.3 | UniProtKB/TrEMBL | |
ENSSSCT00000049594.3 | UniProtKB/TrEMBL | |
ENSSSCT00000053041.3 | UniProtKB/TrEMBL | |
ENSSSCT00000063255.3 | UniProtKB/TrEMBL | |
ENSSSCT00005020292.1 | UniProtKB/TrEMBL | |
ENSSSCT00015017773.1 | UniProtKB/TrEMBL | |
ENSSSCT00015017884.1 | UniProtKB/TrEMBL | |
ENSSSCT00015017966.1 | UniProtKB/TrEMBL | |
ENSSSCT00015017994.1 | UniProtKB/TrEMBL | |
ENSSSCT00015018075.1 | UniProtKB/TrEMBL | |
ENSSSCT00015018111.1 | UniProtKB/TrEMBL | |
ENSSSCT00015018193.1 | UniProtKB/TrEMBL | |
ENSSSCT00015018267.1 | UniProtKB/TrEMBL | |
ENSSSCT00015018320.1 | UniProtKB/TrEMBL | |
ENSSSCT00015018386.1 | UniProtKB/TrEMBL | |
ENSSSCT00025065071.1 | UniProtKB/TrEMBL | |
ENSSSCT00025065482.1 | UniProtKB/TrEMBL | |
ENSSSCT00025065889.1 | UniProtKB/TrEMBL | |
ENSSSCT00025066365.1 | UniProtKB/TrEMBL | |
ENSSSCT00025066810.1 | UniProtKB/TrEMBL | |
ENSSSCT00025067202.1 | UniProtKB/TrEMBL | |
ENSSSCT00025067531.1 | UniProtKB/TrEMBL | |
ENSSSCT00025067846.1 | UniProtKB/TrEMBL | |
ENSSSCT00025068202.1 | UniProtKB/TrEMBL | |
ENSSSCT00025068566.1 | UniProtKB/TrEMBL | |
ENSSSCT00035059622.1 | UniProtKB/TrEMBL | |
ENSSSCT00035059629.1 | UniProtKB/TrEMBL | |
ENSSSCT00035059632.1 | UniProtKB/TrEMBL | |
ENSSSCT00035059637.1 | UniProtKB/TrEMBL | |
ENSSSCT00035059647.1 | UniProtKB/TrEMBL | |
ENSSSCT00035059653.1 | UniProtKB/TrEMBL | |
ENSSSCT00035059656.1 | UniProtKB/TrEMBL | |
ENSSSCT00035059662.1 | UniProtKB/TrEMBL | |
ENSSSCT00035059665.1 | UniProtKB/TrEMBL | |
ENSSSCT00035059670.1 | UniProtKB/TrEMBL | |
ENSSSCT00045014990.1 | UniProtKB/TrEMBL | |
ENSSSCT00045015150.1 | UniProtKB/TrEMBL | |
ENSSSCT00045015320.1 | UniProtKB/TrEMBL | |
ENSSSCT00045015445.1 | UniProtKB/TrEMBL | |
ENSSSCT00045015553.1 | UniProtKB/TrEMBL | |
ENSSSCT00045015691.1 | UniProtKB/TrEMBL | |
ENSSSCT00045015814.1 | UniProtKB/TrEMBL | |
ENSSSCT00045015961.1 | UniProtKB/TrEMBL | |
ENSSSCT00045016162.1 | UniProtKB/TrEMBL | |
ENSSSCT00045016279.1 | UniProtKB/TrEMBL | |
ENSSSCT00055002274.1 | UniProtKB/TrEMBL | |
ENSSSCT00055002290.1 | UniProtKB/TrEMBL | |
ENSSSCT00060004574.1 | UniProtKB/TrEMBL | |
ENSSSCT00060004579.1 | UniProtKB/TrEMBL | |
ENSSSCT00060004595.1 | UniProtKB/TrEMBL | |
ENSSSCT00060004603.1 | UniProtKB/TrEMBL | |
ENSSSCT00065019302.1 | UniProtKB/TrEMBL | |
ENSSSCT00065019311.1 | UniProtKB/TrEMBL | |
ENSSSCT00065019316.1 | UniProtKB/TrEMBL | |
ENSSSCT00065019320.1 | UniProtKB/TrEMBL | |
ENSSSCT00065019322.1 | UniProtKB/TrEMBL | |
ENSSSCT00065019324.1 | UniProtKB/TrEMBL | |
ENSSSCT00065019326.1 | UniProtKB/TrEMBL | |
ENSSSCT00065019328.1 | UniProtKB/TrEMBL | |
ENSSSCT00065019329.1 | UniProtKB/TrEMBL | |
ENSSSCT00065019330.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.1110.10 | UniProtKB/TrEMBL |
3.40.50.1000 | UniProtKB/TrEMBL | |
Calcium-transporting ATPase, cytoplasmic transduction domain A | UniProtKB/TrEMBL | |
InterPro | ATPase_P-typ_cyto_dom_N | UniProtKB/TrEMBL |
ATPase_P-typ_P_site | UniProtKB/TrEMBL | |
ATPase_P-typ_TM_dom_sf | UniProtKB/TrEMBL | |
ATPase_P-typ_transduc_dom_A_sf | UniProtKB/TrEMBL | |
HAD-like_sf | UniProtKB/TrEMBL | |
HAD_sf | UniProtKB/TrEMBL | |
P-type_ATPase_IV | UniProtKB/TrEMBL | |
P-type_ATPase_N | UniProtKB/TrEMBL | |
P_typ_ATPase | UniProtKB/TrEMBL | |
P_typ_ATPase_c | UniProtKB/TrEMBL | |
P_typ_ATPase_HD_dom | UniProtKB/TrEMBL | |
NCBI Gene | ATP11C | ENTREZGENE |
PANTHER | PROBABLE PHOSPHOLIPID-TRANSPORTING ATPASE | UniProtKB/TrEMBL |
PTHR24092:SF38 | UniProtKB/TrEMBL | |
Pfam | Cation_ATPase | UniProtKB/TrEMBL |
E1-E2_ATPase | UniProtKB/TrEMBL | |
PhoLip_ATPase_C | UniProtKB/TrEMBL | |
PhoLip_ATPase_N | UniProtKB/TrEMBL | |
PRINTS | CATATPASE | UniProtKB/TrEMBL |
PROSITE | ATPASE_E1_E2 | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF56784 | UniProtKB/TrEMBL |
SSF81653 | UniProtKB/TrEMBL | |
SSF81660 | UniProtKB/TrEMBL | |
SSF81665 | UniProtKB/TrEMBL | |
UniProt | A0A286ZQQ9_PIG | UniProtKB/TrEMBL |
A0A286ZSQ3_PIG | UniProtKB/TrEMBL | |
A0A286ZST4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A287AAG3_PIG | UniProtKB/TrEMBL | |
A0A287AFD7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A287AS81_PIG | UniProtKB/TrEMBL | |
A0A8D0LIC1_PIG | UniProtKB/TrEMBL | |
A0A8D0MQD0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0MSV8_PIG | UniProtKB/TrEMBL | |
A0A8D0MU09_PIG | UniProtKB/TrEMBL | |
A0A8D0S9S0_PIG | UniProtKB/TrEMBL | |
A0A8D0TWE6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0UTI2_PIG | UniProtKB/TrEMBL | |
A0A8D0ZUM3_PIG | UniProtKB/TrEMBL | |
A0A8D0ZUV1_PIG | UniProtKB/TrEMBL | |
A0A8D1A4E0_PIG | UniProtKB/TrEMBL | |
A0A8D1CVE3_PIG | UniProtKB/TrEMBL | |
A0A8D1CVS0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1GXG8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1H5W9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1H7G6_PIG | UniProtKB/TrEMBL | |
A0A8D1SHX2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1SIY8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1SJ07 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1SMG5 | ENTREZGENE, UniProtKB/TrEMBL | |
F1RQ73 | ENTREZGENE, UniProtKB/TrEMBL | |
K7GSS2 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | K7GSF5 | UniProtKB/TrEMBL |
VGNC ID | VGNC:85635 | ENTREZGENE |