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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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 11511129ExtracellularSequence analysisAdd
BLAST
Transmembranei1152 – 117221HelicalSequence analysisAdd
BLAST
Topological domaini1173 – 121644CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671487.

Polymorphism and mutation databases

BioMutaiMAMDC4.
DMDMi147742916.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence analysisAdd
BLAST
Chaini23 – 12161194Apical endosomal glycoproteinPRO_0000286578Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi203 – 2031N-linked (GlcNAc...)Sequence analysis
Disulfide bondi229 ↔ 241PROSITE-ProRule annotationBy similarity
Disulfide bondi236 ↔ 254PROSITE-ProRule annotationBy similarity
Disulfide bondi248 ↔ 265PROSITE-ProRule annotationBy similarity
Glycosylationi281 – 2811N-linked (GlcNAc...)Sequence analysis
Glycosylationi339 – 3391N-linked (GlcNAc...)Sequence analysis
Disulfide bondi457 ↔ 468PROSITE-ProRule annotationBy similarity
Disulfide bondi464 ↔ 481PROSITE-ProRule annotationBy similarity
Disulfide bondi475 ↔ 490PROSITE-ProRule annotationBy similarity
Glycosylationi583 – 5831N-linked (GlcNAc...)Sequence analysis
Glycosylationi636 – 6361N-linked (GlcNAc...)Sequence analysis
Glycosylationi835 – 8351N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ6UXC1.
PaxDbiQ6UXC1.
PRIDEiQ6UXC1.

PTM databases

PhosphoSiteiQ6UXC1.

Expressioni

Gene expression databases

BgeeiQ6UXC1.
CleanExiHS_MAMDC4.
ExpressionAtlasiQ6UXC1. baseline and differential.
GenevisibleiQ6UXC1. HS.

Organism-specific databases

HPAiCAB026377.
HPA059977.

Interactioni

Protein-protein interaction databases

IntActiQ6UXC1. 1 interaction.
STRINGi9606.ENSP00000319388.

Structurei

3D structure databases

ProteinModelPortaliQ6UXC1.
SMRiQ6UXC1. Positions 18-52, 227-263, 453-491.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini26 – 5328LDL-receptor class A 1; truncatedPROSITE-ProRule annotationAdd
BLAST
Domaini64 – 222159MAM 1PROSITE-ProRule annotationAdd
BLAST
Domaini228 – 26639LDL-receptor class A 2PROSITE-ProRule annotationAdd
BLAST
Domaini269 – 425157MAM 2PROSITE-ProRule annotationAdd
BLAST
Domaini456 – 49136LDL-receptor class A 3PROSITE-ProRule annotationAdd
BLAST
Domaini491 – 644154MAM 3PROSITE-ProRule annotationAdd
BLAST
Domaini654 – 809156MAM 4PROSITE-ProRule annotationAdd
BLAST
Domaini811 – 969159MAM 5PROSITE-ProRule annotationAdd
BLAST
Domaini971 – 1138168MAM 6PROSITE-ProRule annotationAdd
BLAST

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.
OrthoDBiEOG7TTQ6T.
PhylomeDBiQ6UXC1.
TreeFamiTF330345.

Family and domain databases

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti244 – 2441P → T in a breast cancer sample; somatic mutation. 1 Publication
VAR_035778
Natural varianti987 – 9871W → G.2 Publications
Corresponds to variant rs2275156 [ dbSNP | Ensembl ].
VAR_032128
Natural varianti1174 – 11741R → W in a breast cancer sample; somatic mutation. 1 Publication
VAR_035779

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei573 – 65179Missing in isoform 2. 1 PublicationVSP_052395Add
BLAST
Alternative sequencei942 – 96019VFEAV…ALDDL → SAGWGAPPPPPPPRAAWTR in isoform 3. 1 PublicationVSP_026431Add
BLAST
Alternative sequencei961 – 1216256Missing in isoform 3. 1 PublicationVSP_026432Add
BLAST

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.
SMRiQ6UXC1. Positions 18-52, 227-263, 453-491.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ6UXC1. 1 interaction.
STRINGi9606.ENSP00000319388.

PTM databases

PhosphoSiteiQ6UXC1.

Polymorphism and mutation databases

BioMutaiMAMDC4.
DMDMi147742916.

Proteomic databases

MaxQBiQ6UXC1.
PaxDbiQ6UXC1.
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.
PharmGKBiPA142671487.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGZP. Eukaryota.
ENOG410XPKY. LUCA.
GeneTreeiENSGT00720000108445.
HOGENOMiHOG000033827.
HOVERGENiHBG004185.
InParanoidiQ6UXC1.
OMAiCGTTDFE.
OrthoDBiEOG7TTQ6T.
PhylomeDBiQ6UXC1.
TreeFamiTF330345.

Miscellaneous databases

GenomeRNAii158056.
NextBioi87614.
PROiQ6UXC1.

Gene expression databases

BgeeiQ6UXC1.
CleanExiHS_MAMDC4.
ExpressionAtlasiQ6UXC1. baseline and differential.
GenevisibleiQ6UXC1. HS.

Family and domain databases

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...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLY-987.
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 725-1216 (ISOFORM 3), VARIANT GLY-987.
    Tissue: Testis.
  5. Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-244 AND TRP-1174.

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: March 16, 2016
This is version 95 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.