Q8IUA7 (ABCA9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATP-binding cassette sub-family A member 9

Gene names

Name:

ABCA9

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1624 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May play a role in monocyte differentiation and lipid homeostasis. Ref.2
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Widely expressed with higher expression in heart. Ref.1
Developmental stage	Expressed in fetal tissues with higher expression in fetal heart and kidney. Ref.2
Induction	Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages. Ref.2
Sequence similarities	Belongs to the ABC transporter superfamily. ABCA family. Contains 2 ABC transporter domains.
Sequence caution	The sequence AAH62472.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC11021.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Transport
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP catabolic process Inferred from electronic annotation. Source: GOC transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrion Inferred from electronic annotation. Source: Compara
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8IUA7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8IUA7-2)

Also known as: ABCA9delta+55;

The sequence of this isoform differs from the canonical sequence as follows:
     267-1624: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q8IUA7-3)

Also known as: ABCA9delta+73;

The sequence of this isoform differs from the canonical sequence as follows:
     1429-1429: L → VRAGLVVALQVP
     1430-1624: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q8IUA7-4)

Also known as: ABCA9delta-95;

The sequence of this isoform differs from the canonical sequence as follows:
     1429-1429: L → AGDSGHL
     1430-1624: Missing.

Note: No experimental confirmation available.

Isoform 5 (identifier: Q8IUA7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     268-1624: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1624	1624	ATP-binding cassette sub-family A member 9		PRO_0000250680
Regions
	Transmembrane	31 – 51	21	Helical; Potential
	Transmembrane	221 – 243	23	Helical; Potential
	Transmembrane	269 – 289	21	Helical; Potential
	Transmembrane	300 – 320	21	Helical; Potential
	Transmembrane	329 – 349	21	Helical; Potential
	Transmembrane	354 – 374	21	Helical; Potential
	Transmembrane	398 – 418	21	Helical; Potential
	Transmembrane	864 – 884	21	Helical; Potential
	Transmembrane	1026 – 1046	21	Helical; Potential
	Transmembrane	1065 – 1085	21	Helical; Potential
	Transmembrane	1108 – 1128	21	Helical; Potential
	Transmembrane	1136 – 1156	21	Helical; Potential
	Transmembrane	1163 – 1183	21	Helical; Potential
	Transmembrane	1200 – 1220	21	Helical; Potential
	Domain	481 – 716	236	ABC transporter 1
	Domain	1288 – 1521	234	ABC transporter 2
	Nucleotide binding	517 – 524	8	ATP 1 Potential
	Nucleotide binding	1326 – 1333	8	ATP 2 Potential
Amino acid modifications
	Modified residue	113	1	Phosphoserine By similarity
	Glycosylation	120	1	N-linked (GlcNAc...) Potential
	Glycosylation	195	1	N-linked (GlcNAc...) Potential
	Glycosylation	949	1	N-linked (GlcNAc...) Ref.5
Natural variations
	Alternative sequence	267 – 1624	1358	Missing in isoform 2.		VSP_020705
	Alternative sequence	268 – 1624	1357	Missing in isoform 5.		VSP_020706
	Alternative sequence	1429	1	L → VRAGLVVALQVP in isoform 3.		VSP_020707
	Alternative sequence	1429	1	L → AGDSGHL in isoform 4.		VSP_020708
	Alternative sequence	1430 – 1624	195	Missing in isoform 3 and isoform 4.		VSP_020709
	Natural variant	353	1	R → H. Ref.1 Ref.4 Corresponds to variant rs1860447 [ dbSNP | Ensembl ].		VAR_027594
	Natural variant	785	1	N → S. Corresponds to variant rs17684521 [ dbSNP | Ensembl ].		VAR_027595
	Natural variant	1306	1	K → T. Ref.1 Corresponds to variant rs2302294 [ dbSNP | Ensembl ].		VAR_027596
	Natural variant	1356	1	G → S. Corresponds to variant rs9916254 [ dbSNP | Ensembl ].		VAR_027597
Experimental info
	Sequence conflict	1430	1	C → R in AAK30024. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 0847DC95DCC680D1	FASTA	1,624	184,362
	10 20 30 40 50 60 MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM 70 80 90 100 110 120 SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN 130 140 150 160 170 180 YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA 190 200 210 220 230 240 FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY 250 260 270 280 290 300 VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF 310 320 330 340 350 360 VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW 370 380 390 400 410 420 TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF 430 440 450 460 470 480 DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA 490 500 510 520 530 540 IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS 550 560 570 580 590 600 VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR 610 620 630 640 650 660 VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL 670 680 690 700 710 720 KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER 730 740 750 760 770 780 CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS 790 800 810 820 830 840 ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA 850 860 870 880 890 900 LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT 910 920 930 940 950 960 YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI 970 980 990 1000 1010 1020 IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY 1030 1040 1050 1060 1070 1080 GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL 1090 1100 1110 1120 1130 1140 ILLLMQIMDY IFSPEEIIFI IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS 1150 1160 1170 1180 1190 1200 FFFLIVVIFS IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE 1210 1220 1230 1240 1250 1260 IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN PEEPEGEEED 1270 1280 1290 1300 1310 1320 IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF SKRKKKIATR NVSFCVKKGE 1330 1340 1350 1360 1370 1380 VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV ILKGSGGGEP LGFLGYCPQE NALWPNLTVR 1390 1400 1410 1420 1430 1440 QHLEVYAAVK GLRKGDAMIA ITRLVDALKL QDQLKAPVKT LSEGIKRKLC FVLSILGNPS 1450 1460 1470 1480 1490 1500 VVLLDEPSTG MDPEGQQQMW QVIRATFRNT ERGALLTTHY MAEAEAVCDR VAIMVSGRLR 1510 1520 1530 1540 1550 1560 CIGSIQHLKS KFGKDYLLEM KLKNLAQMEP LHAEILRLFP QAAQQERFSS LMVYKLPVED 1570 1580 1590 1600 1610 1620 VRPLSQAFFK LEIVKQSFDL EEYSLSQSTL EQVFLELSKE QELGDLEEDF DPSVKWKLLL QEEP
	Isoform 2 (ABCA9delta+55) [UniParc]. Checksum: D870EB4EBBB5F84B	FASTA	266	30,812
	10 20 30 40 50 60 MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM 70 80 90 100 110 120 SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN 130 140 150 160 170 180 YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA 190 200 210 220 230 240 FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY 250 260 VSVNVTQERQ YITSLMTMMG LRESAF
	Isoform 3 (ABCA9delta+73) [UniParc]. Checksum: BA4082AFCACBF405	FASTA	1,440	163,101
	10 20 30 40 50 60 MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM 70 80 90 100 110 120 SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN 130 140 150 160 170 180 YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA 190 200 210 220 230 240 FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY 250 260 270 280 290 300 VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF 310 320 330 340 350 360 VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW 370 380 390 400 410 420 TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF 430 440 450 460 470 480 DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA 490 500 510 520 530 540 IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS 550 560 570 580 590 600 VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR 610 620 630 640 650 660 VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL 670 680 690 700 710 720 KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER 730 740 750 760 770 780 CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS 790 800 810 820 830 840 ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA 850 860 870 880 890 900 LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT 910 920 930 940 950 960 YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI 970 980 990 1000 1010 1020 IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY 1030 1040 1050 1060 1070 1080 GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL 1090 1100 1110 1120 1130 1140 ILLLMQIMDY IFSPEEIIFI IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS 1150 1160 1170 1180 1190 1200 FFFLIVVIFS IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE 1210 1220 1230 1240 1250 1260 IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN PEEPEGEEED 1270 1280 1290 1300 1310 1320 IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF SKRKKKIATR NVSFCVKKGE 1330 1340 1350 1360 1370 1380 VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV ILKGSGGGEP LGFLGYCPQE NALWPNLTVR 1390 1400 1410 1420 1430 1440 QHLEVYAAVK GLRKGDAMIA ITRLVDALKL QDQLKAPVKT LSEGIKRKVR AGLVVALQVP
	Isoform 4 (ABCA9delta-95) [UniParc]. Checksum: 1E072AD74AB04515	FASTA	1,435	162,535
	10 20 30 40 50 60 MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM 70 80 90 100 110 120 SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN 130 140 150 160 170 180 YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA 190 200 210 220 230 240 FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY 250 260 270 280 290 300 VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF 310 320 330 340 350 360 VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW 370 380 390 400 410 420 TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF 430 440 450 460 470 480 DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA 490 500 510 520 530 540 IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS 550 560 570 580 590 600 VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR 610 620 630 640 650 660 VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL 670 680 690 700 710 720 KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER 730 740 750 760 770 780 CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS 790 800 810 820 830 840 ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA 850 860 870 880 890 900 LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT 910 920 930 940 950 960 YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI 970 980 990 1000 1010 1020 IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY 1030 1040 1050 1060 1070 1080 GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL 1090 1100 1110 1120 1130 1140 ILLLMQIMDY IFSPEEIIFI IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS 1150 1160 1170 1180 1190 1200 FFFLIVVIFS IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE 1210 1220 1230 1240 1250 1260 IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN PEEPEGEEED 1270 1280 1290 1300 1310 1320 IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF SKRKKKIATR NVSFCVKKGE 1330 1340 1350 1360 1370 1380 VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV ILKGSGGGEP LGFLGYCPQE NALWPNLTVR 1390 1400 1410 1420 1430 QHLEVYAAVK GLRKGDAMIA ITRLVDALKL QDQLKAPVKT LSEGIKRKAG DSGHL
	Isoform 5 [UniParc]. Checksum: 109870EB4EBBB5F8	FASTA	267	30,998
	10 20 30 40 50 60 MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM 70 80 90 100 110 120 SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN 130 140 150 160 170 180 YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA 190 200 210 220 230 240 FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY 250 260 VSVNVTQERQ YITSLMTMMG LRESAFW

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identifying and characterizing a five-gene cluster of ATP-binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily." Arnould I., Schriml L.M., Prades C., Lachtermacher-Triunfol M., Schneider T., Maintoux C., Lemoine C., Debono D., Devaud C., Naudin L., Bauche S., Annat M., Annilo T., Allikmets R., Gold B., Denefle P., Rosier M., Dean M. GeneScreen 1:157-164(2001) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS HIS-353 AND THR-1306, TISSUE SPECIFICITY.
[2]	"Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9." Piehler A., Kaminski W.E., Wenzel J.J., Langmann T., Schmitz G. Biochem. Biophys. Res. Commun. 295:408-416(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORMS 2; 3 AND 4), FUNCTION, INDUCTION, DEVELOPMENTAL STAGE. Tissue: Macrophage.
[3]	"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] (ISOFORM 5).
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-856 (ISOFORM 1), VARIANT HIS-353. Tissue: Embryo and Small intestine.
[5]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-949, MASS SPECTROMETRY. Tissue: Liver.

Web resources

ABCMdb

Database for mutations in ABC proteins

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY028899 mRNA. Translation: AAK30024.1. AF423307 mRNA. Translation: AAN32751.1. AF423346 , AF423308, AF423309, AF423310, AF423311, AF423312, AF423313, AF423314, AF423315, AF423316, AF423317, AF423318, AF423320, AF423321, AF423322, AF423323, AF423324, AF423325, AF423326, AF423327, AF423328, AF423329, AF423330, AF423331, AF423332, AF423333, AF423334, AF423335, AF423336, AF423337, AF423338, AF423339, AF423340, AF423341, AF423342, AF423343, AF423344, AF423345 Genomic DNA. Translation: AAN32752.1. BC062472 mRNA. Translation: AAH62472.1. Different initiation. AK057068 mRNA. Translation: BAB71359.1. AK074491 mRNA. Translation: BAC11021.1. Different initiation.
IPI	IPI00216702. IPI00375523. IPI00786976. IPI00787019. IPI00788018.
RefSeq	NP_525022.2. NM_080283.3.
UniGene	Hs.131686.
3D structure databases
ProteinModelPortal	Q8IUA7.
SMR	Q8IUA7. Positions 480-709, 1282-1516.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8IUA7. 2 interactions.
STRING	9606.ENSP00000342216.
PTM databases
PhosphoSite	Q8IUA7.
Polymorphism databases
DMDM	74762471.
Proteomic databases
PaxDb	Q8IUA7.
PRIDE	Q8IUA7.
Protocols and materials databases
DNASU	10350.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000340001; ENSP00000342216; ENSG00000154258. ENST00000370732; ENSP00000359767; ENSG00000154258. ENST00000495634; ENSP00000465601; ENSG00000154258.
GeneID	10350.
KEGG	hsa:10350.
UCSC	uc002jhu.3. human. uc002jhv.3. human.
Organism-specific databases
CTD	10350.
GeneCards	GC17M066970.
H-InvDB	HIX0014120.
HGNC	HGNC:39. ABCA9.
HPA	HPA054823.
MIM	612507. gene.
neXtProt	NX_Q8IUA7.
PharmGKB	PA24384.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1131.
HOGENOM	HOG000231057.
HOVERGEN	HBG079884.
InParanoid	Q8IUA7.
KO	K05651.
OMA	IQILCSI.
OrthoDB	EOG40P45W.
PhylomeDB	Q8IUA7.
Enzyme and pathway databases
Reactome	REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q8IUA7.
Bgee	Q8IUA7.
CleanEx	HS_ABCA9.
Genevestigator	Q8IUA7.
GermOnline	ENSG00000154258. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR026082. ABC_A. IPR003439. ABC_transporter-like. [Graphical view]
PANTHER	PTHR19229. PTHR19229. 1 hit.
Pfam	PF00005. ABC_tran. 2 hits. [Graphical view]
SMART	SM00382. AAA. 2 hits. [Graphical view]
PROSITE	PS00211. ABC_TRANSPORTER_1. False negative. PS50893. ABC_TRANSPORTER_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10350.
NextBio	39247.
SOURCE	Search...

Entry information

Entry name

ABCA9_HUMAN

Accession

Primary (citable) accession number: Q8IUA7
Secondary accession number(s): Q6P655 , Q8N2S4, Q8WWZ5, Q96MD8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2006
Last sequence update:	March 1, 2003
Last modified:	May 1, 2013
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.