GenTIGS

ATP binding cassette subfamily B member 6 (LAN blood group) (ABCB6) Associated conditions: 1. Acute intermittent porphyria

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001349828.2	NP_001336757.1	NC_000002.12	(219209771..219218957, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_005689.4	NP_005680.1	NC_000002.12	(219209771..219218957, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 190 reference articles

Variant Information ATP binding cassette subfamily B member 6 (LAN blood group) (ABCB6) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of ATP binding cassette subfamily B member 6 (LAN blood group) (ABCB6)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	located_in	Golgi membrane	Component	-
2	Homo sapiens	IEA	enables	nucleotide binding	Function	-
3	Homo sapiens	IDA	enables	ATP binding	Function	10837493 27507172
4	Homo sapiens	IEA	enables	ATP binding	Function	-
5	Homo sapiens	IEA	located_in	extracellular region	Component	-
6	Homo sapiens	HTP	located_in	mitochondrion	Component	34800366
7	Homo sapiens	IDA	NOT located_in	mitochondrion	Component	18279659 22655043
8	Homo sapiens	IDA	located_in	mitochondrion	Component	10837493
9	Homo sapiens	IMP	located_in	mitochondrion	Component	23792964
10	Homo sapiens	IDA	located_in	mitochondrial envelope	Component	10837493
11	Homo sapiens	IDA	located_in	mitochondrial outer membrane	Component	17006453 17661442
12	Homo sapiens	TAS	located_in	mitochondrial outer membrane	Component	-
13	Homo sapiens	IDA	located_in	lysosomal membrane	Component	22655043 25627919 29940187 31053883
14	Homo sapiens	IEA	located_in	lysosomal membrane	Component	-
15	Homo sapiens	IEA	located_in	endosome	Component	-
16	Homo sapiens	ISS	located_in	endosome	Component	-
17	Homo sapiens	IBA	is_active_in	vacuolar membrane	Component	-
18	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	22226084
19	Homo sapiens	IDA	located_in	endoplasmic reticulum membrane	Component	21199866
20	Homo sapiens	IEA	located_in	endoplasmic reticulum membrane	Component	-
21	Homo sapiens	IDA	located_in	Golgi apparatus	Component	18279659 21199866 22226084
22	Homo sapiens	IDA	located_in	plasma membrane	Component	17661442 22655043 25627919 27507172
23	Homo sapiens	IEA	located_in	plasma membrane	Component	-
24	Homo sapiens	IDA	involved_in	porphyrin-containing compound metabolic process	Process	27507172
25	Homo sapiens	IEA	involved_in	porphyrin-containing compound metabolic process	Process	-
26	Homo sapiens	IMP	involved_in	porphyrin-containing compound metabolic process	Process	33007128
27	Homo sapiens	IDA	involved_in	porphyrin-containing compound biosynthetic process	Process	17006453
28	Homo sapiens	IMP	NOT involved_in	heme B biosynthetic process	Process	22655043
29	Homo sapiens	IEA	involved_in	intracellular copper ion homeostasis	Process	-
30	Homo sapiens	ISS	involved_in	intracellular copper ion homeostasis	Process	-
31	Homo sapiens	NAS	involved_in	intracellular iron ion homeostasis	Process	11977179
32	Homo sapiens	IMP	involved_in	brain development	Process	22100072
33	Homo sapiens	IEA	located_in	endosome membrane	Component	-
34	Homo sapiens	IEA	enables	heme transmembrane transporter activity	Function	-
35	Homo sapiens	IBA	enables	ABC-type heme transporter activity	Function	-
36	Homo sapiens	IEA	enables	ABC-type heme transporter activity	Function	-
37	Homo sapiens	IMP	enables	ABC-type heme transporter activity	Function	17006453
38	Homo sapiens	TAS	enables	ABC-type heme transporter activity	Function	-
39	Homo sapiens	IDA	enables	efflux transmembrane transporter activity	Function	17661442
40	Homo sapiens	IBA	involved_in	heme transport	Process	-
41	Homo sapiens	IDA	involved_in	heme transport	Process	17661442
42	Homo sapiens	IMP	involved_in	heme transport	Process	17006453
43	Homo sapiens	IEA	located_in	membrane	Component	-
44	Homo sapiens	IDA	enables	ATP hydrolysis activity	Function	33007128
45	Homo sapiens	IEA	enables	ATP hydrolysis activity	Function	-
46	Homo sapiens	IBA	enables	heme binding	Function	-
47	Homo sapiens	IDA	enables	heme binding	Function	17006453 33007128
48	Homo sapiens	IEA	located_in	early endosome membrane	Component	-
49	Homo sapiens	ISS	located_in	early endosome membrane	Component	-
50	Homo sapiens	IEA	located_in	late endosome membrane	Component	-
51	Homo sapiens	IDA	located_in	multivesicular body membrane	Component	25627919
52	Homo sapiens	IEA	located_in	multivesicular body membrane	Component	-
53	Homo sapiens	IMP	involved_in	tetrapyrrole metabolic process	Process	23792964
54	Homo sapiens	IDA	located_in	melanosome membrane	Component	29940187
55	Homo sapiens	IEA	located_in	melanosome membrane	Component	-
56	Homo sapiens	IEA	involved_in	iron ion transmembrane transport	Process	-
57	Homo sapiens	IDA	involved_in	heme transmembrane transport	Process	33007128
58	Homo sapiens	IDA	located_in	endolysosome membrane	Component	25627919 31053883
59	Homo sapiens	IEA	located_in	endolysosome membrane	Component	-
60	Homo sapiens	IDA	involved_in	heme metabolic process	Process	33007128
61	Homo sapiens	NAS	part_of	ATP-binding cassette (ABC) transporter complex	Component	11955620
62	Homo sapiens	IMP	involved_in	skin development	Process	22100072
63	Homo sapiens	IDA	enables	tetrapyrrole binding	Function	17006453 23792964
64	Homo sapiens	IBA	involved_in	transmembrane transport	Process	-
65	Homo sapiens	IEA	involved_in	transmembrane transport	Process	-
66	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867
67	Homo sapiens	IDA	located_in	extracellular exosome	Component	22655043
68	Homo sapiens	IEA	located_in	extracellular exosome	Component	-
69	Homo sapiens	IDA	involved_in	cellular detoxification of cadmium ion	Process	31053883
70	Homo sapiens	IDA	enables	ABC-type transporter activity	Function	27507172
71	Homo sapiens	IEA	enables	ABC-type transporter activity	Function	-
72	Homo sapiens	IMP	enables	ABC-type transporter activity	Function	23792964
73	Homo sapiens	ISS	enables	ABC-type transporter activity	Function	-
74	Homo sapiens	IDA	involved_in	melanosome assembly	Process	29940187