SLC4A1 (solute carrier family 4 member 1 (Diego blood group))

Gene

• Entrez ID: 6521
• Gene name: Solute carrier family 4 member 1 (Diego blood group)
• Gene symbol: SLC4A1
• Synonyms: AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5036	T>C	Pathogenic, benign, likely-benign	Coding sequence variant, missense variant, 5 prime UTR variant
rs2285644	G>A,T	Pathogenic, benign, likely-benign	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs13306787	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs28929480	C>T	Pathogenic	Missense variant, coding sequence variant
rs28931583	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs28931584	C>T	Pathogenic	Missense variant, coding sequence variant
rs28931585	G>A,T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, synonymous variant, missense variant
rs45562031	C>T	Likely-pathogenic, likely-benign, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs56361140	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant, synonymous variant
rs75731670	C>G,T	Affects	Missense variant, coding sequence variant
rs121912741	C>T	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs121912742	G>A	Pathogenic	Coding sequence variant, stop gained
rs121912743	C>G,T	Affects	Coding sequence variant, missense variant
rs121912744	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912745	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912746	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121912748	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912749	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912750	T>C	Pathogenic	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs121912751	G>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs121912752	ACC>-	Pathogenic	Coding sequence variant, downstream transcript variant, inframe deletion, genic downstream transcript variant
rs121912753	A>G	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs121912754	C>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121912755	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912756	C>T	Affects	Coding sequence variant, missense variant
rs121912757	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121912758	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs121912759	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs147390654	C>A,T	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs373916826	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs387906565	C>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs387906566	->CATCTGGGTG	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, frameshift variant
rs750930293	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs769664228	GGCAGCCAGGACCTGGGGGCTGAATGC>-	Pathogenic, protective	Inframe deletion, coding sequence variant
rs772264078	G>T	Likely-pathogenic	Intron variant
rs863225461	A>G	Pathogenic	Missense variant, coding sequence variant
rs863225462	T>C	Pathogenic	Missense variant, coding sequence variant
rs863225463	A>G	Pathogenic	Missense variant, coding sequence variant
rs866727908	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs878853002	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1057518222	TGTTGGGGGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555596072	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555596165	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555596483	C>T	Pathogenic	Splice donor variant
rs1555596757	T>C	Pathogenic	Splice acceptor variant
rs1567830555	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1567834739	C>T	Pathogenic	Splice donor variant
rs1598299485	C>T	Pathogenic	Missense variant, coding sequence variant
rs1598301457	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1598302037	C>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT519094	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT519093	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672451	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT519092	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672450	hsa-miR-6131	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT519089	hsa-miR-548s	HITS-CLIP	23824327
MIRT519088	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT519087	hsa-miR-588	HITS-CLIP	23824327
MIRT519086	hsa-miR-4435	HITS-CLIP	23824327
MIRT519085	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT672449	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT672448	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672451	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT519092	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672450	hsa-miR-6131	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT519089	hsa-miR-548s	HITS-CLIP	23824327
MIRT519088	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT519087	hsa-miR-588	HITS-CLIP	23824327
MIRT519086	hsa-miR-4435	HITS-CLIP	23824327
MIRT519085	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT672449	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT672448	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT653477	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653476	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT653474	hsa-miR-5193	HITS-CLIP	23824327
MIRT653473	hsa-miR-3183	HITS-CLIP	23824327
MIRT653472	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653471	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653469	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653468	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653467	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT653475	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT653470	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT653477	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653476	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT653475	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT653474	hsa-miR-5193	HITS-CLIP	23824327
MIRT653473	hsa-miR-3183	HITS-CLIP	23824327
MIRT653472	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653471	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653470	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT653469	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653468	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653467	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT531922	hsa-miR-4524b-3p	PAR-CLIP	22012620
MIRT531921	hsa-miR-1182	PAR-CLIP	22012620
MIRT531920	hsa-miR-6812-3p	PAR-CLIP	22012620
MIRT531919	hsa-miR-1267	PAR-CLIP	22012620
MIRT531918	hsa-miR-367-5p	PAR-CLIP	22012620
MIRT531917	hsa-miR-4524a-3p	PAR-CLIP	22012620
MIRT531916	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT531915	hsa-miR-3135b	PAR-CLIP	22012620
MIRT531914	hsa-miR-504-3p	PAR-CLIP	22012620
MIRT531913	hsa-miR-122-5p	PAR-CLIP	22012620
MIRT531912	hsa-miR-3652	PAR-CLIP	22012620
MIRT531911	hsa-miR-4430	PAR-CLIP	22012620
MIRT531910	hsa-miR-143-5p	PAR-CLIP	22012620
MIRT531909	hsa-miR-6501-5p	PAR-CLIP	22012620
MIRT531908	hsa-miR-4423-5p	PAR-CLIP	22012620
MIRT531907	hsa-miR-744-3p	PAR-CLIP	22012620
MIRT531906	hsa-miR-5698	PAR-CLIP	22012620
MIRT519097	hsa-miR-802	PAR-CLIP	23446348
MIRT519095	hsa-miR-1244	PAR-CLIP	23446348
MIRT519094	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT519093	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT519092	hsa-miR-4755-3p	PAR-CLIP	23446348
MIRT519091	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT519090	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT519089	hsa-miR-548s	PAR-CLIP	23446348
MIRT519088	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT519087	hsa-miR-588	PAR-CLIP	23446348
MIRT519086	hsa-miR-4435	PAR-CLIP	23446348
MIRT519085	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT519084	hsa-miR-5096	PAR-CLIP	23446348
MIRT531921	hsa-miR-1182	HITS-CLIP	27418678
MIRT531917	hsa-miR-4524a-3p	HITS-CLIP	27418678
MIRT531922	hsa-miR-4524b-3p	HITS-CLIP	27418678
MIRT531920	hsa-miR-6812-3p	HITS-CLIP	27418678
MIRT519094	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT519093	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672451	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT519092	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672450	hsa-miR-6131	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT519089	hsa-miR-548s	HITS-CLIP	23824327
MIRT519088	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT519087	hsa-miR-588	HITS-CLIP	23824327
MIRT519086	hsa-miR-4435	HITS-CLIP	23824327
MIRT519085	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT672449	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT672448	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT672451	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT519092	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT672450	hsa-miR-6131	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT519089	hsa-miR-548s	HITS-CLIP	23824327
MIRT519088	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT519087	hsa-miR-588	HITS-CLIP	23824327
MIRT519086	hsa-miR-4435	HITS-CLIP	23824327
MIRT519085	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT672449	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT672448	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT653477	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653476	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT653474	hsa-miR-5193	HITS-CLIP	23824327
MIRT653473	hsa-miR-3183	HITS-CLIP	23824327
MIRT653472	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653471	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653469	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653468	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653467	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT653475	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT653470	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT653477	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT653476	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT653475	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT653474	hsa-miR-5193	HITS-CLIP	23824327
MIRT653473	hsa-miR-3183	HITS-CLIP	23824327
MIRT653472	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653471	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653470	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT653469	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT653468	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653467	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT632399	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT632398	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT632397	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT632396	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT632395	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT632394	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT632393	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT632392	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT632391	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT632390	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT632389	hsa-miR-4454	HITS-CLIP	23824327
MIRT632388	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT531922	hsa-miR-4524b-3p	PAR-CLIP	22012620
MIRT531921	hsa-miR-1182	PAR-CLIP	22012620
MIRT531920	hsa-miR-6812-3p	PAR-CLIP	22012620
MIRT531919	hsa-miR-1267	PAR-CLIP	22012620
MIRT531918	hsa-miR-367-5p	PAR-CLIP	22012620
MIRT531917	hsa-miR-4524a-3p	PAR-CLIP	22012620
MIRT531916	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT531915	hsa-miR-3135b	PAR-CLIP	22012620
MIRT531914	hsa-miR-504-3p	PAR-CLIP	22012620
MIRT531913	hsa-miR-122-5p	PAR-CLIP	22012620
MIRT531912	hsa-miR-3652	PAR-CLIP	22012620
MIRT531911	hsa-miR-4430	PAR-CLIP	22012620
MIRT531910	hsa-miR-143-5p	PAR-CLIP	22012620
MIRT531909	hsa-miR-6501-5p	PAR-CLIP	22012620
MIRT531908	hsa-miR-4423-5p	PAR-CLIP	22012620
MIRT531907	hsa-miR-744-3p	PAR-CLIP	22012620
MIRT531906	hsa-miR-5698	PAR-CLIP	22012620
MIRT519097	hsa-miR-802	PAR-CLIP	23446348
MIRT519095	hsa-miR-1244	PAR-CLIP	23446348
MIRT519094	hsa-miR-4781-3p	PAR-CLIP	23446348
MIRT519093	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT519092	hsa-miR-4755-3p	PAR-CLIP	23446348
MIRT519091	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT519090	hsa-miR-197-3p	PAR-CLIP	23446348
MIRT519089	hsa-miR-548s	PAR-CLIP	23446348
MIRT519088	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT519087	hsa-miR-588	PAR-CLIP	23446348
MIRT519086	hsa-miR-4435	PAR-CLIP	23446348
MIRT519085	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT519084	hsa-miR-5096	PAR-CLIP	23446348
MIRT1364878	hsa-miR-1	CLIP-seq
MIRT1364879	hsa-miR-105	CLIP-seq
MIRT1364880	hsa-miR-1185	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364882	hsa-miR-1224-5p	CLIP-seq
MIRT1364883	hsa-miR-125a-3p	CLIP-seq
MIRT1364884	hsa-miR-1260	CLIP-seq
MIRT1364885	hsa-miR-1260b	CLIP-seq
MIRT1364886	hsa-miR-1269	CLIP-seq
MIRT1364887	hsa-miR-1269b	CLIP-seq
MIRT1364888	hsa-miR-1280	CLIP-seq
MIRT1364889	hsa-miR-1288	CLIP-seq
MIRT1364890	hsa-miR-1343	CLIP-seq
MIRT1364891	hsa-miR-188-3p	CLIP-seq
MIRT1364892	hsa-miR-206	CLIP-seq
MIRT1364893	hsa-miR-3127-5p	CLIP-seq
MIRT1364894	hsa-miR-3156-3p	CLIP-seq
MIRT1364895	hsa-miR-3162-3p	CLIP-seq
MIRT1364896	hsa-miR-3190	CLIP-seq
MIRT1364897	hsa-miR-3192	CLIP-seq
MIRT1364898	hsa-miR-3605-5p	CLIP-seq
MIRT1364899	hsa-miR-361-3p	CLIP-seq
MIRT1364900	hsa-miR-3673	CLIP-seq
MIRT1364901	hsa-miR-3679-5p	CLIP-seq
MIRT1364902	hsa-miR-3689a-3p	CLIP-seq
MIRT1364903	hsa-miR-3689c	CLIP-seq
MIRT1364904	hsa-miR-371-5p	CLIP-seq
MIRT1364905	hsa-miR-3915	CLIP-seq
MIRT1364906	hsa-miR-3934	CLIP-seq
MIRT1364907	hsa-miR-4270	CLIP-seq
MIRT1364908	hsa-miR-4286	CLIP-seq
MIRT1364909	hsa-miR-4293	CLIP-seq
MIRT1364910	hsa-miR-4441	CLIP-seq
MIRT1364911	hsa-miR-4515	CLIP-seq
MIRT1364912	hsa-miR-4689	CLIP-seq
MIRT1364913	hsa-miR-4724-3p	CLIP-seq
MIRT1364914	hsa-miR-4728-5p	CLIP-seq
MIRT1364915	hsa-miR-4740-5p	CLIP-seq
MIRT1364916	hsa-miR-4752	CLIP-seq
MIRT1364917	hsa-miR-4765	CLIP-seq
MIRT1364918	hsa-miR-4768-3p	CLIP-seq
MIRT1364919	hsa-miR-596	CLIP-seq
MIRT1364920	hsa-miR-610	CLIP-seq
MIRT1364921	hsa-miR-613	CLIP-seq
MIRT1364922	hsa-miR-661	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364924	hsa-miR-760	CLIP-seq
MIRT1364925	hsa-miR-764	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1922384	hsa-miR-24	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1922384	hsa-miR-24	CLIP-seq
MIRT2108299	hsa-miR-3667-3p	CLIP-seq
MIRT2108300	hsa-miR-3974	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT2108301	hsa-miR-4475	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT2108302	hsa-miR-605	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364883	hsa-miR-125a-3p	CLIP-seq
MIRT1364890	hsa-miR-1343	CLIP-seq
MIRT1922384	hsa-miR-24	CLIP-seq
MIRT2332077	hsa-miR-3120-3p	CLIP-seq
MIRT2332078	hsa-miR-377	CLIP-seq
MIRT1364906	hsa-miR-3934	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT2332079	hsa-miR-4459	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT2332080	hsa-miR-4797-3p	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364925	hsa-miR-764	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364883	hsa-miR-125a-3p	CLIP-seq
MIRT1364890	hsa-miR-1343	CLIP-seq
MIRT1364906	hsa-miR-3934	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT1364925	hsa-miR-764	CLIP-seq
MIRT2440547	hsa-miR-1468	CLIP-seq
MIRT2108299	hsa-miR-3667-3p	CLIP-seq
MIRT2440547	hsa-miR-1468	CLIP-seq
MIRT2108299	hsa-miR-3667-3p	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT2466123	hsa-miR-3136-5p	CLIP-seq
MIRT2466124	hsa-miR-3660	CLIP-seq
MIRT2466125	hsa-miR-4439	CLIP-seq
MIRT2466126	hsa-miR-4513	CLIP-seq
MIRT2466127	hsa-miR-4526	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364883	hsa-miR-125a-3p	CLIP-seq
MIRT1364890	hsa-miR-1343	CLIP-seq
MIRT1922384	hsa-miR-24	CLIP-seq
MIRT1364906	hsa-miR-3934	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364925	hsa-miR-764	CLIP-seq
MIRT1364881	hsa-miR-122	CLIP-seq
MIRT1364883	hsa-miR-125a-3p	CLIP-seq
MIRT1364890	hsa-miR-1343	CLIP-seq
MIRT1922384	hsa-miR-24	CLIP-seq
MIRT1364906	hsa-miR-3934	CLIP-seq
MIRT1922385	hsa-miR-4284	CLIP-seq
MIRT1922386	hsa-miR-4772-3p	CLIP-seq
MIRT1364923	hsa-miR-720	CLIP-seq
MIRT1364925	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005452	Function	Inorganic anion exchanger activity	IDA	24121512
GO:0005515	Function	Protein binding	IPI	16669616, 19438409, 20980406, 23219802, 25012180, 26049106, 26823170, 32296183
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	379653, 24121512
GO:0006820	Process	Anion transport	IDA	14734552
GO:0006821	Process	Chloride transport	ISS
GO:0006873	Process	Cellular ion homeostasis	TAS	8841202
GO:0007596	Process	Blood coagulation	IEA
GO:0008509	Function	Anion transmembrane transporter activity	TAS	4027230
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IBA	21873635
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IDA	24121512
GO:0015108	Function	Chloride transmembrane transporter activity	ISS
GO:0015301	Function	Anion:anion antiporter activity	IBA	21873635
GO:0015301	Function	Anion:anion antiporter activity	IDA	14734552
GO:0015701	Process	Bicarbonate transport	IBA	21873635
GO:0015701	Process	Bicarbonate transport	IDA	24121512
GO:0015701	Process	Bicarbonate transport	TAS
GO:0016021	Component	Integral component of membrane	NAS	1527044
GO:0016323	Component	Basolateral plasma membrane	IBA	21873635
GO:0016323	Component	Basolateral plasma membrane	IDA	12539048, 14734552
GO:0017121	Process	Plasma membrane phospholipid scrambling	IEA
GO:0022857	Function	Transmembrane transporter activity	IBA	21873635
GO:0030018	Component	Z disc	ISS
GO:0030492	Function	Hemoglobin binding	IEA
GO:0030506	Function	Ankyrin binding	IPI	379653
GO:0030863	Component	Cortical cytoskeleton	IDA	16669616
GO:0035811	Process	Negative regulation of urine volume	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	379653
GO:0043495	Function	Protein-membrane adaptor activity	TAS	10950304
GO:0045852	Process	PH elevation	IEA
GO:0048821	Process	Erythrocyte development	IEA
GO:0050801	Process	Ion homeostasis	IBA	21873635
GO:0051354	Process	Negative regulation of oxidoreductase activity	IEA
GO:0051453	Process	Regulation of intracellular pH	IBA	21873635
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1904539	Process	Negative regulation of glycolytic process through fructose-6-phosphate	IEA

Other IDs

• MIM: 109270
• HGNC: 11027
• e!Ensembl: ENSG00000004939

Protein

• UniProt ID: P02730
• Protein name: Band 3 anion transport protein (Anion exchange protein 1) (AE 1) (Anion exchanger 1) (Solute carrier family 4 member 1) (CD antigen CD233)
• Protein function: Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein (PubMed:10926824, PubMed:14734552, PubMed:1538405, PubMed:16227998, PubMed:20151848, PubMed:24121512, PubMed:2838730
• PDB: 1BH7, 1BNX, 1BTQ, 1BTR, 1BTS, 1BTT, 1BZK, 1HYN, 2BTA, 2BTB, 3BTB, 4KY9, 4YZF, 7TVZ, 7TW0, 7TW1, 7TW2, 7TW3, 7TW5, 7TW6, 7TY4, 7TY6, 7TY7, 7TY8, 7TYA, 7UZ3, 7UZU, 7UZV, 7V07, 7V0K, 7V0M, 7V0T, 7V0U, 7V0Y, 7V19, 8CRQ, 8CRR, 8CRT, 8CS9, 8CSL, 8CSV, 8CSY, 8CT3, 8CTE, 8T3R, 8T3U, 8T44, 8T45, 8T47, 8T6U, 8T6V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07565	Band_3_cyto	86 → 329	Band 3 cytoplasmic domain	Domain
  PF00955	HCO3_cotransp	372 → 566	HCO3- transporter family	Family
  PF00955	HCO3_cotransp	555 → 839	HCO3- transporter family	Family

• Sequence:

  MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVE
  LQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVL
  LDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTR
  SGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQP
  VLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYM
  AQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYK
  GLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPA
  ITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCE
  TNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKL
  IKIFQDHPLQKTYNYNVLMVPKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGK
  LRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFP
  IWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFG
  MPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPIL
  SRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQ
  IICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEG
  RDEYDEVAMPV

• Sequence length: 911

Pathways

KEGG:

Collecting duct acid secretion

Reactome:

Erythrocytes take up carbon dioxide and release oxygen
Erythrocytes take up oxygen and release carbon dioxide
Bicarbonate transporters
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Hemolytic, Anemia, Hemolytic, Acquired, Anemia, Microangiopathic, Anemia, hereditary spherocytic hemolytic, stomatocytic anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	16227998, 23664421
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Dehydrated hereditary stomatocytosis	Dehydrated hereditary stomatocytosis	rs774455945, rs1057519076, rs1057519077
Distal renal tubular acidosis	Distal Renal Tubular Acidosis, Autosomal dominant distal renal tubular acidosis	rs121964880, rs769664228, rs121912744, rs121912745, rs121912746, rs121912748, rs121912751, rs878853002, rs781838938, rs782152033, rs1443883930	9312167, 9600966, 23460825
Elliptocytosis	Elliptocytosis, Hereditary, Elliptocytosis 4	rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs121434564	9600966, 1737855, 23664421, 23339107
Hereditary spherocytosis	Hereditary spherocytosis	rs137852829, rs137852830, rs137852831, rs397514029, rs786205243, rs121918646, rs121918648, rs121918651, rs863223304, rs267607086, rs754614154, rs266257354, rs121917734, rs266257355, rs115998465, rs387906566, rs121912741, rs121912742, rs56361140, rs121912750, rs28931584, rs28931585, rs121912755, rs143682977, rs786204766, rs200386310, rs1553234309, rs1555366607, rs1555366592, rs1553232007, rs1554522035, rs777701149, rs1554567249, rs1554578304, rs1554627073, rs1555367359, rs1555367789, rs150471537, rs1555369657, rs1555370967, rs866727908, rs1555596072, rs1555596165, rs1555596757, rs1586144223, rs1563502820, rs1566754467, rs377659326, rs1594773586, rs1586072383, rs750820522, rs1586145051, rs1594767593, rs1586114714, rs1345709572	23664421, 1378323
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
Hypofibrinogenemia	Hypofibrinogenemia	rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604
Pseudohyperkalemia cardiff	Pseudohyperkalemia Cardiff	rs754667801, rs764893806	16227998, 8547122, 1722314, 9600966
Renal tubular acidosis	Renal Tubular Acidosis, Type II	rs121908367, rs28939081, rs769664228, rs121912745, rs121912748, rs121912751, rs121912752, rs28931584, rs121912754, rs878853002, rs763982675, rs769164245, rs768446132, rs1443883930, rs754517968, rs1450564765, rs934266733, rs1584907924, rs753232747, rs1584934951	9312167, 23460825
Renal tubular acidosis, with normal red cell morphology	Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology	rs121912753
Restrictive cardiomyopathy	Restrictive cardiomyopathy	rs104894729, rs397516153, rs727503513, rs727503499, rs727503504, rs730880231, rs1554401403, rs1563005534, rs1420394583
Spherocytosis	Spherocytosis, Type 4	rs786205242, rs786205243, rs786205244, rs121918634	9012689, 8547122, 10942416, 7530501, 16227998, 8640229, 15813913, 10580570, 11380459, 10745622, 9973643, 8943874, 9207478, 9600966, 1378323, 1722314, 9233560
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916

Unknown
Disease name	Disease term	dbSNP ID	References
Anorexia	Anorexia
Distal renal tubular acidosis with anemia	Distal renal tubular acidosis with anemia
Dwarfism	Dwarfism
Fibrinogen deficiency	Fibrinogen Deficiency
Gout	Gout
Hematological disease	Hematological Disease		8343110
Hereditary cryohydrocytosis with normal stomatin	Hereditary cryohydrocytosis with normal stomatin
Isothenuria	Isothenuria
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia		16227998
Nephritis	Nephritis, Interstitial, Nephritis, Tubulointerstitial
Nephrocalcinosis	Nephrocalcinosis
Ovalocytosis	Ovalocytosis, Malaysian-Melanesian-Filipino Type		1722314, 23664421, 9600966, 23339107, 8547122
Periodic hypokalemic paresis	Periodic hypokalemic paresis
Periodic paralysis	Familial Periodic Paralysis, periodic paralysis (finding)
Renal tubular acidosis, distal, with hemolytic anemia	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)		9854053, 15211439, 9600966, 10926824
Rickets	Rickets, Adult Rickets
Southeast asian ovalocytosis	Southeast Asian ovalocytosis
Xerocytosis	Xerocytosis		16227998