Gene Information
Gene NameABCA4
OrganismHomo sapiens (Human)
Gene Length2273
Protein NamesRetinal-specific phospholipid-transporting ATPase ABCA4 (EC 7.6.2.1) (ATP-binding cassette sub-family A member 4) (RIM ABC transporter) (RIM proteinv) (RmP) (Retinal-specific ATP-binding cassette transporter) (Stargardt disease protein)
Target Nameatp-binding cassette transporter a4
Target TypeClinical trial target
Gene Age1064 ( ENSG00000198691 )
Evolutionary StageEukaryota
AlphaFoldDBP78363
Gene CardABCA4
Uniprot IDP78363
PfamPF00005
In ASDno
Allosteric Predictionno (-0.511784823)
Ortholog in AnimalsAlpaca_ ABCA4 ( ortholog_one2one )
Dog_ ABCA4 ( ortholog_one2one )
GuineaPig_ ABCA4 ( ortholog_one2one )
Macaque_ ABCA4 ( ortholog_one2one )
Mouse_ Abca4 ( ortholog_one2one )
Pig_ ABCA4 ( ortholog_one2one )
Rabbit_ ABCA4 ( ortholog_one2one )
OhnologsABCA7, ABCA1
ParalogsABCA5, ABCA9, ABCA12, ABCA7, ABCA8, ABCA13, ABCA3, ABCA1, ABCA2, ABCA6, ABCA10
Tissuemedulla.oblongata
Tissue SpecificityRetinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 7E7I  (EM  3.30A  )  7E7O  (EM  3.40A  )  7E7Q  (EM  3.30A  )  7LKP  (EM  3.27A  )  7LKZ  (EM  3.27A  )  7M1P  (EM  3.60A  )  7M1Q  (EM  2.92A  ) 
DBSNP rs62645946  rs121909205  rs62645958  rs764744217  rs150774447  rs61748524  rs61751411  rs55732384  rs62654395  rs62654397  rs62654397  rs61751412  rs61748526  rs61748527  rs61748529  rs61748529  rs886039297  rs755691060  rs61748530  rs765429911  rs62646860  rs62646862  rs62646863  rs61748532  rs281865397  rs61748535  rs61748536  rs61750200  rs6657239  rs61748538  rs147619585  rs373540612  rs1057518767  rs1553195472  rs62646864  rs62645950  rs62646865  rs781716640  rs190540405  rs61748544  rs61748545  rs747540967  rs61751419  rs61748546  rs61748547  rs61751420  rs61748548  rs61748549  rs61751264  rs794726979  rs3112831  rs770439859  rs61748552  rs764170051  rs1800548  rs138157885  rs752786160  rs1224959251  rs62646868  rs61748556  rs61751392  rs61748557  rs61748558  rs145525174  rs61748559  rs61748559  rs374224955  rs61749410  rs61749409  rs61749412  rs61749412  rs61752398  rs1557787473  rs61749414  rs61752400  rs760790294  rs61749416  rs61754024  rs61749417  rs61749418  rs61749420  rs141823837  rs61752402  rs61749426  rs1801369  rs61749428  rs61749429  rs61752404  rs61751395  rs61749432  rs61750202  rs61749433  rs61754027  rs61749435  rs61749436  rs61749437  rs76157638  rs62642570  rs61749440  rs61754030  rs58331765  rs61749444  rs1801581  rs61749446  rs61749447  rs61749448  rs61752409  rs201471607  rs1570377849  rs61749450  rs61749451  rs281865400  rs61749452  rs61749453  rs61749454  rs61749455  rs61749456  rs61749457  rs201855602  rs61749459  rs61750060  rs61750061  rs61751374  rs61750062  rs61752412  rs61752413  rs61750065  rs61752416  rs61751398  rs61752417  rs756840095  rs61750119  rs138641544  rs61750120  rs61750121  rs61750121  rs61750122  rs61751399  rs779426136  rs1801269  rs1064793010  rs1340749727  rs768278935  rs75267647  rs61750126  rs146786552  rs61750127  rs76258939  rs61750128  rs61752424  rs61752427  rs61750129  rs61754041  rs1183074086  rs61750130  rs61750131  rs62642573  rs61750133  rs61750134  rs61750135  rs1800549  rs61752432  rs56357060  rs61750140  rs61750141  rs61752433  rs762150575  rs61750142  rs61752434  rs61750145  rs61750147  rs61750146  rs61750147  rs61751402  rs886046564  rs61750150  rs281865402  rs1800550  rs61750151  rs61750152  rs62642574  rs62642575  rs1401716074  rs1762111  rs185093512  rs1800551  rs113106943  rs61750155  rs1571257969  rs61750158  rs61754056  rs61751403  rs61751404  rs61750560  rs61753020  rs61750563  rs61750564  rs61750565  rs61753021  rs61753021  rs61750567  rs765563320  rs61750568  rs61753025  rs121909206  rs61753028  rs760549861  rs771742619  rs1553187939  rs121909207  rs61751406  rs1571252997  rs61750574  rs61753029  rs62646875  rs62642562  rs62642562  rs62642562  rs62642576  rs61750575  rs1801466  rs752160946  rs62642578  rs62642563  rs62642579  rs61750635  rs61750636  rs201357151  rs1800552  rs61753032  rs61753033  rs760353830  rs56142141  rs1800553  rs142253670  rs28938473  rs61753034  rs61753036  rs61750639  rs150633517  rs61751408  rs61751383  rs61750641  rs1242866408  rs1553186896  rs61750642  rs61750643  rs61753038  rs148460146  rs763230559  rs41292677  rs61753039  rs61753040  rs367839100  rs61750645  rs61750645  rs61750646  rs1166357291  rs61750648  rs2297669  rs62642564  rs61750651  rs61750652  rs61750653  rs774475956  rs61753044  rs61750655  rs61750656  rs61751384  rs281865405  rs1800555  rs61750658  rs886044763  rs61750659  rs61748521  rs6666652  rs281865407 
Subcellular location [CC]Membrane {ECO:0000269|PubMed:10075733};
Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:24097981}. Cytoplasmic vesicle {ECO:0000269|PubMed:29847635, ECO:0000269|PubMed:33375396}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:F1MWM0}. Note=Localized to the rim and incisures of rod outer segments disks. {ECO:0000250|UniProtKB:F1MWM0}.
Mouse PG classificationHPG
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