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Entry version 150 (13 Feb 2019)
Sequence version 3 (24 Nov 2009)
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Protein

ATP-binding cassette sub-family A member 12

Gene

ABCA12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Probable transporter involved in lipid homeostasis.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi1378 – 1385ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi2290 – 2297ATP 2PROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-5682294 Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B

Protein family/group databases

Transport Classification Database

More...
TCDBi
3.A.1.211.13 the atp-binding cassette (abc) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 12
Alternative name(s):
ATP-binding cassette transporter 12
Short name:
ATP-binding cassette 12
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCA12
Synonyms:ABC12
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000144452.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14637 ABCA12

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607800 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86UK0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Transmembranei1065 – 1085HelicalSequence analysisAdd BLAST21
Transmembranei1112 – 1132HelicalSequence analysisAdd BLAST21
Transmembranei1145 – 1165HelicalSequence analysisAdd BLAST21
Transmembranei1174 – 1194HelicalSequence analysisAdd BLAST21
Transmembranei1200 – 1220HelicalSequence analysisAdd BLAST21
Transmembranei1250 – 1270HelicalSequence analysisAdd BLAST21
Transmembranei1747 – 1767HelicalSequence analysisAdd BLAST21
Transmembranei1979 – 1999HelicalSequence analysisAdd BLAST21
Transmembranei2035 – 2055HelicalSequence analysisAdd BLAST21
Transmembranei2072 – 2092HelicalSequence analysisAdd BLAST21
Transmembranei2103 – 2123HelicalSequence analysisAdd BLAST21
Transmembranei2187 – 2207HelicalSequence analysisAdd BLAST21
Transmembranei2270 – 2290HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 4A (ARCI4A)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
See also OMIM:601277
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_067075345T → P in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs1295935868Ensembl.1
Natural variantiVAR_0670771136G → D in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0670791235W → S in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0195981380N → S in ARCI4A. 1 PublicationCorresponds to variant dbSNP:rs28940269EnsemblClinVar.1
Natural variantiVAR_0195991381G → E in ARCI4A. 1 PublicationCorresponds to variant dbSNP:rs28940268EnsemblClinVar.1
Natural variantiVAR_0670801494I → T in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs1263698595Ensembl.1
Natural variantiVAR_0196001514R → H in ARCI4A. 2 PublicationsCorresponds to variant dbSNP:rs28940270EnsemblClinVar.1
Natural variantiVAR_0196011539E → K in ARCI4A. 1 PublicationCorresponds to variant dbSNP:rs28940271EnsemblClinVar.1
Natural variantiVAR_0670811559G → V in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs1457513156Ensembl.1
Natural variantiVAR_0196021651G → S in ARCI4A. 1 PublicationCorresponds to variant dbSNP:rs28940568EnsemblClinVar.1
Natural variantiVAR_0670821798P → L in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs181314573Ensembl.1
Natural variantiVAR_0670831980T → K in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Ichthyosis, congenital, autosomal recessive 4B (ARCI4B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma.
See also OMIM:242500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067076387S → N in ARCI4B. 1 PublicationCorresponds to variant dbSNP:rs746315995Ensembl.1
Natural variantiVAR_0670781179G → R in ARCI4B. 1 PublicationCorresponds to variant dbSNP:rs267606622EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
26154

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ABCA12

MalaCards human disease database

More...
MalaCardsi
ABCA12
MIMi242500 phenotype
601277 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000144452

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79394 Congenital non-bullous ichthyosiform erythroderma
457 Harlequin ichthyosis
313 Lamellar ichthyosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29604

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABCA12

Domain mapping of disease mutations (DMDM)

More...
DMDMi
269849713

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000933001 – 2595ATP-binding cassette sub-family A member 12Add BLAST2595

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi156N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi214N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi275N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi333N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi367N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi383N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi412N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi435N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi528N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi543N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi577N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi608N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi623N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi648N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi752N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi826N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi920N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi963N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1170N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1524N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1663N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1704N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1769N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1819N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1835N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1876N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1921N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1952N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2178N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2208N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2223N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2318N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2542N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi2547N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q86UK0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q86UK0

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q86UK0

PeptideAtlas

More...
PeptideAtlasi
Q86UK0

PRoteomics IDEntifications database

More...
PRIDEi
Q86UK0

ProteomicsDB human proteome resource

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ProteomicsDBi
69821
69822 [Q86UK0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q86UK0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q86UK0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Mainly expressed in the stomach, placenta, testis and fetal brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000144452 Expressed in 57 organ(s), highest expression level in mammalian vulva

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q86UK0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86UK0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA078239

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
ABCA1O954774EBI-9541582,EBI-784112

GO - Molecular functioni

Protein-protein interaction databases

Protein interaction database and analysis system

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IntActi
Q86UK0, 3 interactors

Molecular INTeraction database

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MINTi
Q86UK0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000272895

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q86UK0

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q86UK0

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1346 – 1577ABC transporter 1PROSITE-ProRule annotationAdd BLAST232
Domaini2254 – 2489ABC transporter 2PROSITE-ProRule annotationAdd BLAST236

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0059 Eukaryota
COG1131 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157295

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000168538

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG080807

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q86UK0

KEGG Orthology (KO)

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KOi
K05646

Identification of Orthologs from Complete Genome Data

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OMAi
CYMKDNF

Database of Orthologous Groups

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OrthoDBi
692811at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q86UK0

TreeFam database of animal gene trees

More...
TreeFami
TF105191

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR026082 ABCA
IPR030371 ABCA12
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...
PANTHERi
PTHR19229 PTHR19229, 1 hit
PTHR19229:SF29 PTHR19229:SF29, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00005 ABC_tran, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382 AAA, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q86UK0-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MASLFHQLQI LVWKNWLGVK RQPLWTLVLI LWPVIIFIIL AITRTKFPPT
60 70 80 90 100
AKPTCYLAPR NLPSTGFFPF LQTLLCDTDS KCKDTPYGPQ DLLRRKGIDD
110 120 130 140 150
ALFKDSEILR KSSNLDKDSS LSFQSTQVPE RRHASLATVF PSPSSDLEIP
160 170 180 190 200
GTYTFNGSQV LARILGLEKL LKQNSTSEDI RRELCDSYSG YIVDDAFSWT
210 220 230 240 250
FLGRNVFNKF CLSNMTLLES SLQELNKQFS QLSSDPNNQK IVFQEIVRML
260 270 280 290 300
SFFSQVQEQK AVWQLLSSFP NVFQNDTSLS NLFDVLRKAN SVLLVVQKVY
310 320 330 340 350
PRFATNEGFR TLQKSVKHLL YTLDSPAQGD SDNITHVWNE DDGQTLSPSS
360 370 380 390 400
LAAQLLILEN FEDALLNISA NSPYIPYLAC VRNVTDSLAR GSPENLRLLQ
410 420 430 440 450
STIRFKKSFL RNGSYEDYFP PVPEVLKSKL SQLRNLTELL CESETFSLIE
460 470 480 490 500
KSCQLSDMSF GSLCEESEFD LQLLEAAELG TEIAASLLYH DNVISKKVRD
510 520 530 540 550
LLTGDPSKIN LNMDQFLEQA LQMNYLENIT QLIPIIEAML HVNNSADASE
560 570 580 590 600
KPGQLLEMFK NVEELKEDLR RTTGMSNRTI DKLLAIPIPD NRAEIISQVF
610 620 630 640 650
WLHSCDTNIT TPKLEDAMKE FCNLSLSERS RQSYLIGLTL LHYLNIYNFT
660 670 680 690 700
YKVFFPRKDQ KPVEKMMELF IRLKEILNQM ASGTHPLLDK MRSLKQMHLP
710 720 730 740 750
RSVPLTQAMY RSNRMNTPQG SFSTISQALC SQGITTEYLT AMLPSSQRPK
760 770 780 790 800
GNHTKDFLTY KLTKEQIASK YGIPINSTPF CFSLYKDIIN MPAGPVIWAF
810 820 830 840 850
LKPMLLGRIL YAPYNPVTKA IMEKSNVTLR QLAELREKSQ EWMDKSPLFM
860 870 880 890 900
NSFHLLNQAI PMLQNTLRNP FVQVFVKFSV GLDAVELLKQ IDELDILRLK
910 920 930 940 950
LENNIDIIDQ LNTLSSLTVN ISSCVLYDRI QAAKTIDEME REAKRLYKSN
960 970 980 990 1000
ELFGSVIFKL PSNRSWHRGY DSGNVFLPPV IKYTIRMSLK TAQTTRSLRT
1010 1020 1030 1040 1050
KIWAPGPHNS PSHNQIYGRA FIYLQDSIER AIIELQTGRN SQEIAVQVQA
1060 1070 1080 1090 1100
IPYPCFMKDN FLTSVSYSLP IVLMVAWVVF IAAFVKKLVY EKDLRLHEYM
1110 1120 1130 1140 1150
KMMGVNSCSH FFAWLIESVG FLLVTIVILI IILKFGNILP KTNGFILFLY
1160 1170 1180 1190 1200
FSDYSFSVIA MSYLISVFFN NTNIAALIGS LIYIIAFFPF IVLVTVENEL
1210 1220 1230 1240 1250
SYVLKVFMSL LSPTAFSYAS QYIARYEEQG IGLQWENMYT SPVQDDTTSF
1260 1270 1280 1290 1300
GWLCCLILAD SFIYFLIAWY VRNVFPGTYG MAAPWYFPIL PSYWKERFGC
1310 1320 1330 1340 1350
AEVKPEKSNG LMFTNIMMQN TNPSASPEYM FSSNIEPEPK DLTVGVALHG
1360 1370 1380 1390 1400
VTKIYGSKVA VDNLNLNFYE GHITSLLGPN GAGKTTTISM LTGLFGASAG
1410 1420 1430 1440 1450
TIFVYGKDIK TDLHTVRKNM GVCMQHDVLF SYLTTKEHLL LYGSIKVPHW
1460 1470 1480 1490 1500
TKKQLHEEVK RTLKDTGLYS HRHKRVGTLS GGMKRKLSIS IALIGGSRVV
1510 1520 1530 1540 1550
ILDEPSTGVD PCSRRSIWDV ISKNKTARTI ILSTHHLDEA EVLSDRIAFL
1560 1570 1580 1590 1600
EQGGLRCCGS PFYLKEAFGD GYHLTLTKKK SPNLNANAVC DTMAVTAMIQ
1610 1620 1630 1640 1650
SHLPEAYLKE DIGGELVYVL PPFSTKVSGA YLSLLRALDN GMGDLNIGCY
1660 1670 1680 1690 1700
GISDTTVEEV FLNLTKESQK NSAMSLEHLT QKKIGNSNAN GISTPDDLSV
1710 1720 1730 1740 1750
SSSNFTDRDD KILTRGERLD GFGLLLKKIM AILIKRFHHT RRNWKGLIAQ
1760 1770 1780 1790 1800
VILPIVFVTT AMGLGTLRNS SNSYPEIQIS PSLYGTSEQT AFYANYHPST
1810 1820 1830 1840 1850
EALVSAMWDF PGIDNMCLNT SDLQCLNKDS LEKWNTSGEP ITNFGVCSCS
1860 1870 1880 1890 1900
ENVQECPKFN YSPPHRRTYS SQVIYNLTGQ RVENYLISTA NEFVQKRYGG
1910 1920 1930 1940 1950
WSFGLPLTKD LRFDITGVPA NRTLAKVWYD PEGYHSLPAY LNSLNNFLLR
1960 1970 1980 1990 2000
VNMSKYDAAR HGIIMYSHPY PGVQDQEQAT ISSLIDILVA LSILMGYSVT
2010 2020 2030 2040 2050
TASFVTYVVR EHQTKAKQLQ HISGIGVTCY WVTNFIYDMV FYLVPVAFSI
2060 2070 2080 2090 2100
GIIAIFKLPA FYSENNLGAV SLLLLLFGYA TFSWMYLLAG LFHETGMAFI
2110 2120 2130 2140 2150
TYVCVNLFFG INSIVSLSVV YFLSKEKPND PTLELISETL KRIFLIFPQF
2160 2170 2180 2190 2200
CFGYGLIELS QQQSVLDFLK AYGVEYPNET FEMNKLGAMF VALVSQGTMF
2210 2220 2230 2240 2250
FSLRLLINES LIKKLRLFFR KFNSSHVRET IDEDEDVRAE RLRVESGAAE
2260 2270 2280 2290 2300
FDLVQLYCLT KTYQLIHKKI IAVNNISIGI PAGECFGLLG VNGAGKTTIF
2310 2320 2330 2340 2350
KMLTGDIIPS SGNILIRNKT GSLGHVDSHS SLVGYCPQED ALDDLVTVEE
2360 2370 2380 2390 2400
HLYFYARVHG IPEKDIKETV HKLLRRLHLM PFKDRATSMC SYGTKRKLST
2410 2420 2430 2440 2450
ALALIGKPSI LLLDEPSSGM DPKSKRHLWK IISEEVQNKC SVILTSHSME
2460 2470 2480 2490 2500
ECEALCTRLA IMVNGKFQCI GSLQHIKSRF GRGFTVKVHL KNNKVTMETL
2510 2520 2530 2540 2550
TKFMQLHFPK TYLKDQHLSM LEYHVPVTAG GVANIFDLLE TNKTALNITN
2560 2570 2580 2590
FLVSQTTLEE VFINFAKDQK SYETADTSSQ GSTISVDSQD DQMES
Length:2,595
Mass (Da):293,237
Last modified:November 24, 2009 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5B71359B642BBAE6
GO
Isoform 2 (identifier: Q86UK0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-318: Missing.
     319-328: LLYTLDSPAQ → MFTYIKIITS

Note: No experimental confirmation available.
Show »
Length:2,277
Mass (Da):256,960
Checksum:i58CA49F7B23C51F2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PBK1E9PBK1_HUMAN
ATP-binding cassette sub-family A m...
ABCA12
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAN40735 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti651Y → D in AAP21093 (PubMed:12697999).Curated1
Sequence conflicti811Y → H in AAP21093 (PubMed:12697999).Curated1
Sequence conflicti826N → D in AAK54355 (Ref. 2) Curated1
Sequence conflicti2079Y → H in AAP21093 (PubMed:12697999).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055473199W → C. Corresponds to variant dbSNP:rs16853238EnsemblClinVar.1
Natural variantiVAR_055474237N → H. Corresponds to variant dbSNP:rs11890512EnsemblClinVar.1
Natural variantiVAR_055475274Q → R. Corresponds to variant dbSNP:rs11890468EnsemblClinVar.1
Natural variantiVAR_055476287R → G. Corresponds to variant dbSNP:rs11891778EnsemblClinVar.1
Natural variantiVAR_067075345T → P in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs1295935868Ensembl.1
Natural variantiVAR_067076387S → N in ARCI4B. 1 PublicationCorresponds to variant dbSNP:rs746315995Ensembl.1
Natural variantiVAR_019597459S → T. Corresponds to variant dbSNP:rs7560008EnsemblClinVar.1
Natural variantiVAR_062663476A → V in a pancreatic ductal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs370640837EnsemblClinVar.1
Natural variantiVAR_027444550E → G. Corresponds to variant dbSNP:rs16853149EnsemblClinVar.1
Natural variantiVAR_027445777S → T3 PublicationsCorresponds to variant dbSNP:rs7560008EnsemblClinVar.1
Natural variantiVAR_0670771136G → D in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0670781179G → R in ARCI4B. 1 PublicationCorresponds to variant dbSNP:rs267606622EnsemblClinVar.1
Natural variantiVAR_0670791235W → S in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0274461251G → D. Corresponds to variant dbSNP:rs13414448Ensembl.1
Natural variantiVAR_0195981380N → S in ARCI4A. 1 PublicationCorresponds to variant dbSNP:rs28940269EnsemblClinVar.1
Natural variantiVAR_0195991381G → E in ARCI4A. 1 PublicationCorresponds to variant dbSNP:rs28940268EnsemblClinVar.1
Natural variantiVAR_0670801494I → T in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs1263698595Ensembl.1
Natural variantiVAR_0196001514R → H in ARCI4A. 2 PublicationsCorresponds to variant dbSNP:rs28940270EnsemblClinVar.1
Natural variantiVAR_0196011539E → K in ARCI4A. 1 PublicationCorresponds to variant dbSNP:rs28940271EnsemblClinVar.1
Natural variantiVAR_0274471546R → C. Corresponds to variant dbSNP:rs13401480Ensembl.1
Natural variantiVAR_0670811559G → V in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs1457513156Ensembl.1
Natural variantiVAR_0196021651G → S in ARCI4A. 1 PublicationCorresponds to variant dbSNP:rs28940568EnsemblClinVar.1
Natural variantiVAR_0670821798P → L in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs181314573Ensembl.1
Natural variantiVAR_0670831980T → K in ARCI4A; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication1
Natural variantiVAR_0274482064E → K. Corresponds to variant dbSNP:rs1213011Ensembl.1
Natural variantiVAR_0274492365D → N1 PublicationCorresponds to variant dbSNP:rs726070EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0112831 – 318Missing in isoform 2. 1 PublicationAdd BLAST318
Alternative sequenceiVSP_011284319 – 328LLYTLDSPAQ → MFTYIKIITS in isoform 2. 1 Publication10

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY219711 mRNA Translation: AAP21093.1
AY033486 mRNA Translation: AAK54355.1
AC072062 Genomic DNA Translation: AAY24276.1
AC114780 Genomic DNA Translation: AAY24230.1
AF418105 mRNA Translation: AAN40735.1 Different initiation.
AL080207 mRNA Translation: CAB45776.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33372.1 [Q86UK0-1]
CCDS33373.1 [Q86UK0-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
T12512

NCBI Reference Sequences

More...
RefSeqi
NP_056472.2, NM_015657.3 [Q86UK0-2]
NP_775099.2, NM_173076.2 [Q86UK0-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.134585

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000272895; ENSP00000272895; ENSG00000144452 [Q86UK0-1]
ENST00000389661; ENSP00000374312; ENSG00000144452 [Q86UK0-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
26154

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26154

UCSC genome browser

More...
UCSCi
uc002vev.4 human [Q86UK0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY219711 mRNA Translation: AAP21093.1
AY033486 mRNA Translation: AAK54355.1
AC072062 Genomic DNA Translation: AAY24276.1
AC114780 Genomic DNA Translation: AAY24230.1
AF418105 mRNA Translation: AAN40735.1 Different initiation.
AL080207 mRNA Translation: CAB45776.1
CCDSiCCDS33372.1 [Q86UK0-1]
CCDS33373.1 [Q86UK0-2]
PIRiT12512
RefSeqiNP_056472.2, NM_015657.3 [Q86UK0-2]
NP_775099.2, NM_173076.2 [Q86UK0-1]
UniGeneiHs.134585

3D structure databases

ProteinModelPortaliQ86UK0
SMRiQ86UK0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ86UK0, 3 interactors
MINTiQ86UK0
STRINGi9606.ENSP00000272895

Protein family/group databases

TCDBi3.A.1.211.13 the atp-binding cassette (abc) superfamily

PTM databases

iPTMnetiQ86UK0
PhosphoSitePlusiQ86UK0

Polymorphism and mutation databases

BioMutaiABCA12
DMDMi269849713

Proteomic databases

EPDiQ86UK0
jPOSTiQ86UK0
PaxDbiQ86UK0
PeptideAtlasiQ86UK0
PRIDEiQ86UK0
ProteomicsDBi69821
69822 [Q86UK0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272895; ENSP00000272895; ENSG00000144452 [Q86UK0-1]
ENST00000389661; ENSP00000374312; ENSG00000144452 [Q86UK0-2]
GeneIDi26154
KEGGihsa:26154
UCSCiuc002vev.4 human [Q86UK0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26154
DisGeNETi26154
EuPathDBiHostDB:ENSG00000144452.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ABCA12
GeneReviewsiABCA12
HGNCiHGNC:14637 ABCA12
HPAiHPA078239
MalaCardsiABCA12
MIMi242500 phenotype
601277 phenotype
607800 gene
neXtProtiNX_Q86UK0
OpenTargetsiENSG00000144452
Orphaneti79394 Congenital non-bullous ichthyosiform erythroderma
457 Harlequin ichthyosis
313 Lamellar ichthyosis
PharmGKBiPA29604

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00940000157295
HOGENOMiHOG000168538
HOVERGENiHBG080807
InParanoidiQ86UK0
KOiK05646
OMAiCYMKDNF
OrthoDBi692811at2759
PhylomeDBiQ86UK0
TreeFamiTF105191

Enzyme and pathway databases

ReactomeiR-HSA-1369062 ABC transporters in lipid homeostasis
R-HSA-5682294 Defective ABCA12 causes autosomal recessive congenital ichthyosis type 4B

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ABCA12

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
26154

Protein Ontology

More...
PROi
PR:Q86UK0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000144452 Expressed in 57 organ(s), highest expression level in mammalian vulva
ExpressionAtlasiQ86UK0 baseline and differential
GenevisibleiQ86UK0 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR026082 ABCA
IPR030371 ABCA12
IPR027417 P-loop_NTPase
PANTHERiPTHR19229 PTHR19229, 1 hit
PTHR19229:SF29 PTHR19229:SF29, 1 hit
PfamiView protein in Pfam
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABCAC_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86UK0
Secondary accession number(s): Q53QE2
, Q53S55, Q8IZW6, Q96JT3, Q9Y4M5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: November 24, 2009
Last modified: February 13, 2019
This is version 150 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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