Gene: ATP8B1 ENSG00000081923

Description

ATPase, aminophospholipid transporter, class I, type 8B, member 1 [Source:HGNC Symbol;Acc:3706]

Gene Synonyms

ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1

Location

Chromosome 18: 55,313,658-55,470,333 reverse strand.

GRCh37:CM000680.1

About this gene

This gene has 6 transcripts (splice variants), 8 paralogues and is associated with 8 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000536015.1	ATP8B1-201	5935	1251aa	ENSP00000445359.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11965	K7EQC4 K7ERI0 O43520	NM_005603.4	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000283684.4	ATP8B1-001	5818	1251aa	ENSP00000283684.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11965	K7EQC4 K7ERI0 O43520	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000585322.1	ATP8B1-006	527	11aa	ENSP00000468751.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000588255.1	ATP8B1-003	489	92aa	ENSP00000468266.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		K7ERI0	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000591728.1	ATP8B1-005	532	61aa	ENSP00000467767.1	Nonsense mediated decay		K7EQC4	-	-
ENST00000589147.1	ATP8B1-002	540	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: ATP8B1 ENSG00000081923

Summary