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Protein

Apical endosomal glycoprotein

Gene

MAMDC4

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

Annotation score:3 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 transcript 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

Probably involved in the sorting and selective transport of receptors and ligands across polarized epithelia.By similarity

<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 - 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 processProtein transport, Transport

<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:
Apical endosomal glycoprotein
Alternative name(s):
MAM domain-containing protein 4
<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:MAMDC4Imported
Synonyms:AEGP
ORF Names:UNQ3001/PRO9742
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000177943.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24083 MAMDC4

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6UXC1

<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

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 subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini23 – 1151ExtracellularSequence analysisAdd BLAST1129
<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>Transmembranei1152 – 1172HelicalSequence analysisAdd BLAST21
Topological domaini1173 – 1216CytoplasmicSequence analysisAdd BLAST44

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
158056

Open Targets

More...
OpenTargetsi
ENSG00000177943

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671487

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MAMDC4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
147742916

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<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_000028657823 – 1216Apical endosomal glycoproteinAdd BLAST1194

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>Glycosylationi203N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi229 ↔ 241PROSITE-ProRule annotationBy similarity
Disulfide bondi236 ↔ 254PROSITE-ProRule annotationBy similarity
Disulfide bondi248 ↔ 265PROSITE-ProRule annotationBy similarity
Glycosylationi281N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi339N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi457 ↔ 468PROSITE-ProRule annotationBy similarity
Disulfide bondi464 ↔ 481PROSITE-ProRule annotationBy similarity
Disulfide bondi475 ↔ 490PROSITE-ProRule annotationBy similarity
Glycosylationi583N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi636N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi835N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6UXC1

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

More...
PaxDbi
Q6UXC1

PeptideAtlas

More...
PeptideAtlasi
Q6UXC1

PRoteomics IDEntifications database

More...
PRIDEi
Q6UXC1

ProteomicsDB human proteome resource

More...
ProteomicsDBi
67588
67589 [Q6UXC1-2]
67590 [Q6UXC1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6UXC1

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

More...
PhosphoSitePlusi
Q6UXC1

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000177943 Expressed in 117 organ(s), highest expression level in right hemisphere of cerebellum

CleanEx database of gene expression profiles

More...
CleanExi
HS_MAMDC4

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6UXC1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6UXC1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB026377
HPA059977

<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

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q6UXC1, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000319388

<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
Q6UXC1

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

More...
SMRi
Q6UXC1

Database of comparative protein structure models

More...
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>Domaini26 – 53LDL-receptor class A 1; truncatedPROSITE-ProRule annotationAdd BLAST28
Domaini64 – 222MAM 1PROSITE-ProRule annotationAdd BLAST159
Domaini228 – 266LDL-receptor class A 2PROSITE-ProRule annotationAdd BLAST39
Domaini269 – 425MAM 2PROSITE-ProRule annotationAdd BLAST157
Domaini456 – 491LDL-receptor class A 3PROSITE-ProRule annotationAdd BLAST36
Domaini491 – 644MAM 3PROSITE-ProRule annotationAdd BLAST154
Domaini654 – 809MAM 4PROSITE-ProRule annotationAdd BLAST156
Domaini811 – 969MAM 5PROSITE-ProRule annotationAdd BLAST159
Domaini971 – 1138MAM 6PROSITE-ProRule annotationAdd BLAST168

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGZP Eukaryota
ENOG410XPKY LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162046

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000033827

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG004185

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6UXC1

Identification of Orthologs from Complete Genome Data

More...
OMAi
FYHYLHG

Database of Orthologous Groups

More...
OrthoDBi
EOG091G01GG

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6UXC1

TreeFam database of animal gene trees

More...
TreeFami
TF330345

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00112 LDLa, 2 hits
cd06263 MAM, 6 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013320 ConA-like_dom_sf
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR000998 MAM_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00057 Ldl_recept_a, 1 hit
PF00629 MAM, 6 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00261 LDLRECEPTOR

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00192 LDLa, 3 hits
SM00137 MAM, 6 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49899 SSF49899, 6 hits
SSF57424 SSF57424, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01209 LDLRA_1, 2 hits
PS50068 LDLRA_2, 2 hits
PS50060 MAM_2, 6 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 (3+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <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

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q6UXC1-1) [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
MPLSSHLLPA LVLFLAGSSG WAWVPNHCRS PGQAVCNFVC DCRDCSDEAQ
60 70 80 90 100
CGYHGASPTL GAPFACDFEQ DPCGWRDIST SGYSWLRDRA GAALEGPGPH
110 120 130 140 150
SDHTLGTDLG WYMAVGTHRG KEASTAALRS PTLREAASSC KLRLWYHAAS
160 170 180 190 200
GDVAELRVEL THGAETLTLW QSTGPWGPGW QELAVTTGRI RGDFRVTFSA
210 220 230 240 250
TRNATHRGAV ALDDLEFWDC GLPTPQANCP PGHHHCQNKV CVEPQQLCDG
260 270 280 290 300
EDNCGDLSDE NPLTCGRHIA TDFETGLGPW NRSEGWSRNH RAGGPERPSW
310 320 330 340 350
PRRDHSRNSA QGSFLVSVAE PGTPAILSSP EFQASGTSNC SLVFYQYLSG
360 370 380 390 400
SEAGCLQLFL QTLGPGAPRA PVLLRRRRGE LGTAWVRDRV DIQSAYPFQI
410 420 430 440 450
LLAGQTGPGG VVGLDDLILS DHCRPVSEVS TLQPLPPGPR APAPQPLPPS
460 470 480 490 500
SRLQDSCKQG HLACGDLCVP PEQLCDFEEQ CAGGEDEQAC GTTDFESPEA
510 520 530 540 550
GGWEDASVGR LQWRRVSAQE SQGSSAAAAG HFLSLQRAWG QLGAEARVLT
560 570 580 590 600
PLLGPSGPSC ELHLAYYLQS QPRGFLALVV VDNGSRELAW QALSSSAGIW
610 620 630 640 650
KVDKVLLGAR RRPFRLEFVG LVDLDGPDQQ GAGVDNVTLR DCSPTVTTER
660 670 680 690 700
DREVSCNFER DTCSWYPGHL SDTHWRWVES RGPDHDHTTG QGHFVLLDPT
710 720 730 740 750
DPLAWGHSAH LLSRPQVPAA PTECLSFWYH LHGPQIGTLR LAMRREGEET
760 770 780 790 800
HLWSRSGTQG NRWHEAWATL SHQPGSHAQY QLLFEGLRDG YHGTMALDDV
810 820 830 840 850
AVRPGPCWAP NYCSFEDSDC GFSPGGQGLW RRQANASGHA AWGPPTDHTT
860 870 880 890 900
ETAQGHYMVV DTSPDALPRG QTASLTSKEH RPLAQPACLT FWYHGSLRSP
910 920 930 940 950
GTLRVYLEER GRHQVLSLSA HGGLAWRLGS MDVQAERAWR VVFEAVAAGV
960 970 980 990 1000
AHSYVALDDL LLQDGPCPQP GSCDFESGLC GWSHLAWPGL GGYSWDWGGG
1010 1020 1030 1040 1050
ATPSRYPQPP VDHTLGTEAG HFAFFETGVL GPGGRAAWLR SEPLPATPAS
1060 1070 1080 1090 1100
CLRFWYHMGF PEHFYKGELK VLLHSAQGQL AVWGAGGHRR HQWLEAQVEV
1110 1120 1130 1140 1150
ASAKEFQIVF EATLGGQPAL GPIALDDVEY LAGQHCQQPA PSPGNTAAPG
1160 1170 1180 1190 1200
SVPAVVGSAL LLLMLLVLLG LGGRRWLQKK GSCPFQSNTE ATAPGFDNIL
1210
FNADGVTLPA SVTSDP
Note: Gene prediction based on similarity to rat ortholog. No experimental confirmation available.
Length:1,216
Mass (Da):131,499
Last modified:May 15, 2007 - v2
<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:i6E2957EDE7AD2465
GO
Isoform 21 Publication (identifier: Q6UXC1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     573-651: Missing.

Note: No experimental confirmation available.
Show »
Length:1,137
Mass (Da):122,905
Checksum:iFB9C5D5D3AA3670D
GO
Isoform 3 (identifier: Q6UXC1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     942-960: VFEAVAAGVAHSYVALDDL → SAGWGAPPPPPPPRAAWTR
     961-1216: Missing.

Note: May be due to intron retention. No experimental confirmation available.
Show »
Length:960
Mass (Da):104,434
Checksum:i272CC8413B8E1003
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
A0A0C4DGF7A0A0C4DGF7_HUMAN
Apical endosomal glycoprotein
MAMDC4
236Annotation 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>

Natural variant

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_035778244P → T in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs755530502Ensembl.1
Natural variantiVAR_032128987W → G2 PublicationsCorresponds to variant dbSNP:rs2275156Ensembl.1
Natural variantiVAR_0357791174R → W in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs138623341Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_052395573 – 651Missing in isoform 2. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_026431942 – 960VFEAV…ALDDL → SAGWGAPPPPPPPRAAWTR in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_026432961 – 1216Missing in isoform 3. 1 PublicationAdd BLAST256

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
AY358419 mRNA Translation: AAQ88785.1
AL355987 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88294.1
AL834531 mRNA Translation: CAD39187.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7010.1 [Q6UXC1-2]

NCBI Reference Sequences

More...
RefSeqi
NP_996803.2, NM_206920.2 [Q6UXC1-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.376780

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000317446; ENSP00000319388; ENSG00000177943 [Q6UXC1-2]
ENST00000445819; ENSP00000411339; ENSG00000177943 [Q6UXC1-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
158056

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:158056

UCSC genome browser

More...
UCSCi
uc004cjs.4 human [Q6UXC1-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358419 mRNA Translation: AAQ88785.1
AL355987 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88294.1
AL834531 mRNA Translation: CAD39187.1
CCDSiCCDS7010.1 [Q6UXC1-2]
RefSeqiNP_996803.2, NM_206920.2 [Q6UXC1-2]
UniGeneiHs.376780

3D structure databases

ProteinModelPortaliQ6UXC1
SMRiQ6UXC1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ6UXC1, 1 interactor
STRINGi9606.ENSP00000319388

PTM databases

iPTMnetiQ6UXC1
PhosphoSitePlusiQ6UXC1

Polymorphism and mutation databases

BioMutaiMAMDC4
DMDMi147742916

Proteomic databases

MaxQBiQ6UXC1
PaxDbiQ6UXC1
PeptideAtlasiQ6UXC1
PRIDEiQ6UXC1
ProteomicsDBi67588
67589 [Q6UXC1-2]
67590 [Q6UXC1-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
158056
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317446; ENSP00000319388; ENSG00000177943 [Q6UXC1-2]
ENST00000445819; ENSP00000411339; ENSG00000177943 [Q6UXC1-1]
GeneIDi158056
KEGGihsa:158056
UCSCiuc004cjs.4 human [Q6UXC1-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
158056
DisGeNETi158056
EuPathDBiHostDB:ENSG00000177943.13

GeneCards: human genes, protein and diseases

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GeneCardsi
MAMDC4
HGNCiHGNC:24083 MAMDC4
HPAiCAB026377
HPA059977
neXtProtiNX_Q6UXC1
OpenTargetsiENSG00000177943
PharmGKBiPA142671487

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IGZP Eukaryota
ENOG410XPKY LUCA
GeneTreeiENSGT00940000162046
HOGENOMiHOG000033827
HOVERGENiHBG004185
InParanoidiQ6UXC1
OMAiFYHYLHG
OrthoDBiEOG091G01GG
PhylomeDBiQ6UXC1
TreeFamiTF330345

Miscellaneous databases

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

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GenomeRNAii
158056

Protein Ontology

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PROi
PR:Q6UXC1

Gene expression databases

BgeeiENSG00000177943 Expressed in 117 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_MAMDC4
ExpressionAtlasiQ6UXC1 baseline and differential
GenevisibleiQ6UXC1 HS

Family and domain databases

CDDicd00112 LDLa, 2 hits
cd06263 MAM, 6 hits
InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR036055 LDL_receptor-like_sf
IPR023415 LDLR_class-A_CS
IPR002172 LDrepeatLR_classA_rpt
IPR000998 MAM_dom
PfamiView protein in Pfam
PF00057 Ldl_recept_a, 1 hit
PF00629 MAM, 6 hits
PRINTSiPR00261 LDLRECEPTOR
SMARTiView protein in SMART
SM00192 LDLa, 3 hits
SM00137 MAM, 6 hits
SUPFAMiSSF49899 SSF49899, 6 hits
SSF57424 SSF57424, 1 hit
PROSITEiView protein in PROSITE
PS01209 LDLRA_1, 2 hits
PS50068 LDLRA_2, 2 hits
PS50060 MAM_2, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiAEGP_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: Q6UXC1
Secondary accession number(s): A2A3D4
, B0QZ81, Q5T5S2, Q8NCX7
<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: May 15, 2007
Last sequence update: May 15, 2007
Last modified: December 5, 2018
This is version 112 of the entry and version 2 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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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