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Protein

Apical endosomal glycoprotein

Gene

MAMDC4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Apical endosomal glycoprotein
Alternative name(s):
MAM domain-containing protein 4
Gene namesi
Name:MAMDC4Imported
Synonyms:AEGP
ORF Names:UNQ3001/PRO9742
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:24083. MAMDC4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 1151ExtracellularSequence analysisAdd BLAST1129
Transmembranei1152 – 1172HelicalSequence analysisAdd BLAST21
Topological domaini1173 – 1216CytoplasmicSequence analysisAdd BLAST44

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000177943.
PharmGKBiPA142671487.

Polymorphism and mutation databases

BioMutaiMAMDC4.
DMDMi147742916.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000028657823 – 1216Apical endosomal glycoproteinAdd BLAST1194

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi203N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi229 ↔ 241PROSITE-ProRule annotationBy similarity
Disulfide bondi236 ↔ 254PROSITE-ProRule annotationBy similarity
Disulfide bondi248 ↔ 265PROSITE-ProRule annotationBy similarity
Glycosylationi281N-linked (GlcNAc...)Sequence analysis1
Glycosylationi339N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi457 ↔ 468PROSITE-ProRule annotationBy similarity
Disulfide bondi464 ↔ 481PROSITE-ProRule annotationBy similarity
Disulfide bondi475 ↔ 490PROSITE-ProRule annotationBy similarity
Glycosylationi583N-linked (GlcNAc...)Sequence analysis1
Glycosylationi636N-linked (GlcNAc...)Sequence analysis1
Glycosylationi835N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ6UXC1.
PaxDbiQ6UXC1.
PeptideAtlasiQ6UXC1.
PRIDEiQ6UXC1.

PTM databases

iPTMnetiQ6UXC1.
PhosphoSitePlusiQ6UXC1.

Expressioni

Gene expression databases

BgeeiENSG00000177943.
CleanExiHS_MAMDC4.
ExpressionAtlasiQ6UXC1. baseline and differential.
GenevisibleiQ6UXC1. HS.

Organism-specific databases

HPAiCAB026377.
HPA059977.

Interactioni

Protein-protein interaction databases

IntActiQ6UXC1. 1 interactor.
STRINGi9606.ENSP00000319388.

Structurei

3D structure databases

ProteinModelPortaliQ6UXC1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Sequence similaritiesi

Contains 3 LDL-receptor class A domains.PROSITE-ProRule annotation
Contains 6 MAM domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGZP. Eukaryota.
ENOG410XPKY. LUCA.
GeneTreeiENSGT00720000108445.
HOGENOMiHOG000033827.
HOVERGENiHBG004185.
InParanoidiQ6UXC1.
OMAiCGTTDFE.
OrthoDBiEOG091G01GG.
PhylomeDBiQ6UXC1.
TreeFamiTF330345.

Family and domain databases

CDDicd06263. MAM. 6 hits.
Gene3Di4.10.400.10. 2 hits.
InterProiIPR013320. ConA-like_dom.
IPR023415. LDLR_class-A_CS.
IPR002172. LDrepeatLR_classA_rpt.
IPR000998. MAM_dom.
[Graphical view]
PfamiPF00057. Ldl_recept_a. 1 hit.
PF00629. MAM. 6 hits.
[Graphical view]
PRINTSiPR00261. LDLRECEPTOR.
SMARTiSM00192. LDLa. 3 hits.
SM00137. MAM. 6 hits.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 6 hits.
SSF57424. SSF57424. 1 hit.
PROSITEiPS01209. LDLRA_1. 2 hits.
PS50068. LDLRA_2. 2 hits.
PS50060. MAM_2. 6 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035778244P → T in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs755530502dbSNPEnsembl.1
Natural variantiVAR_032128987W → G.2 PublicationsCorresponds to variant rs2275156dbSNPEnsembl.1
Natural variantiVAR_0357791174R → W in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs138623341dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
EMBLi
GenBanki
DDBJi
Links Updated
AY358419 mRNA. Translation: AAQ88785.1.
AL355987 Genomic DNA. Translation: CAQ09956.1.
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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358419 mRNA. Translation: AAQ88785.1.
AL355987 Genomic DNA. Translation: CAQ09956.1.
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.
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.

Protocols and materials databases

DNASUi158056.
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

CTDi158056.
GeneCardsiMAMDC4.
HGNCiHGNC:24083. MAMDC4.
HPAiCAB026377.
HPA059977.
neXtProtiNX_Q6UXC1.
OpenTargetsiENSG00000177943.
PharmGKBiPA142671487.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGZP. Eukaryota.
ENOG410XPKY. LUCA.
GeneTreeiENSGT00720000108445.
HOGENOMiHOG000033827.
HOVERGENiHBG004185.
InParanoidiQ6UXC1.
OMAiCGTTDFE.
OrthoDBiEOG091G01GG.
PhylomeDBiQ6UXC1.
TreeFamiTF330345.

Miscellaneous databases

GenomeRNAii158056.
PROiQ6UXC1.

Gene expression databases

BgeeiENSG00000177943.
CleanExiHS_MAMDC4.
ExpressionAtlasiQ6UXC1. baseline and differential.
GenevisibleiQ6UXC1. HS.

Family and domain databases

CDDicd06263. MAM. 6 hits.
Gene3Di4.10.400.10. 2 hits.
InterProiIPR013320. ConA-like_dom.
IPR023415. LDLR_class-A_CS.
IPR002172. LDrepeatLR_classA_rpt.
IPR000998. MAM_dom.
[Graphical view]
PfamiPF00057. Ldl_recept_a. 1 hit.
PF00629. MAM. 6 hits.
[Graphical view]
PRINTSiPR00261. LDLRECEPTOR.
SMARTiSM00192. LDLa. 3 hits.
SM00137. MAM. 6 hits.
[Graphical view]
SUPFAMiSSF49899. SSF49899. 6 hits.
SSF57424. SSF57424. 1 hit.
PROSITEiPS01209. LDLRA_1. 2 hits.
PS50068. LDLRA_2. 2 hits.
PS50060. MAM_2. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAEGP_HUMAN
AccessioniPrimary (citable) accession number: Q6UXC1
Secondary accession number(s): A2A3D4
, B0QZ81, Q5T5S2, Q8NCX7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: November 2, 2016
This is version 100 of the entry and version 2 of the sequence. [Complete history]
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.

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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.