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Protein

Protein MAL2

Gene

MAL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Member of the machinery of polarized transport. Required for the indirect transcytotic route at the step of the egress of the transcytosing cargo from perinuclear endosomes in order for it to travel to the apical surface via a raft-dependent pathway.1 Publication

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Protein MAL2
Gene namesi
Name:MAL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000147676.13
HGNCiHGNC:13634 MAL2
MIMi609684 gene
neXtProtiNX_Q969L2

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 34CytoplasmicSequence analysisAdd BLAST34
Transmembranei35 – 55HelicalSequence analysisAdd BLAST21
Topological domaini56 – 66LumenalSequence analysisAdd BLAST11
Transmembranei67 – 87HelicalSequence analysisAdd BLAST21
Topological domaini88 – 102CytoplasmicSequence analysisAdd BLAST15
Transmembranei103 – 123HelicalSequence analysisAdd BLAST21
Topological domaini124 – 149LumenalSequence analysisAdd BLAST26
Transmembranei150 – 170HelicalSequence analysisAdd BLAST21
Topological domaini171 – 176CytoplasmicSequence analysis6

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi114569
OpenTargetsiENSG00000147676
PharmGKBiPA30566

Polymorphism and mutation databases

BioMutaiMAL2
DMDMi21263778

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001568081 – 176Protein MAL2Add BLAST176

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi132N-linked (GlcNAc...) asparagine2 Publications1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ969L2
MaxQBiQ969L2
PeptideAtlasiQ969L2
PRIDEiQ969L2

PTM databases

iPTMnetiQ969L2
PhosphoSitePlusiQ969L2

Expressioni

Tissue specificityi

Predominantly expressed in kidney, lung, and liver. Also found in thyroid gland, stomach and, at lower levels in testis and small intestine.2 Publications

Gene expression databases

BgeeiENSG00000147676
CleanExiHS_MAL2
ExpressionAtlasiQ969L2 baseline and differential
GenevisibleiQ969L2 HS

Organism-specific databases

HPAiHPA043831

Interactioni

Subunit structurei

Interacts with TPD52L2.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi125321, 17 interactors
IntActiQ969L2, 36 interactors

Structurei

3D structure databases

ProteinModelPortaliQ969L2
SMRiQ969L2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini31 – 175MARVELPROSITE-ProRule annotationAdd BLAST145

Sequence similaritiesi

Belongs to the MAL family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00730000110762
HOVERGENiHBG000925
InParanoidiQ969L2
OMAiFVTTACY
OrthoDBiEOG091G0OS1
PhylomeDBiQ969L2

Family and domain databases

InterProiView protein in InterPro
IPR013295 MAL
IPR033240 MAL2
IPR008253 Marvel
PANTHERiPTHR22776:SF42 PTHR22776:SF42, 1 hit
PfamiView protein in Pfam
PF01284 MARVEL, 1 hit
PRINTSiPR01884 MALPROTEIN
PROSITEiView protein in PROSITE
PS51225 MARVEL, 1 hit

Sequencei

Sequence statusi: Complete.

Q969L2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSAGGASVPP PPNPAVSFPP PRVTLPAGPD ILRTYSGAFV CLEILFGGLV
60 70 80 90 100
WILVASSNVP LPLLQGWVMF VSVTAFFFSL LFLGMFLSGM VAQIDANWNF
110 120 130 140 150
LDFAYHFTVF VFYFGAFLLE AAATSLHDLH CNTTITGQPL LSDNQYNINV
160 170
AASIFAFMTT ACYGCSLGLA LRRWRP
Length:176
Mass (Da):19,125
Last modified:December 1, 2001 - v1
Checksum:iBACDA0BF3A26FD44
GO

Sequence cautioni

The sequence BAD18789 differs from that shown. Reason: Frameshift at position 166.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05001692A → T. Corresponds to variant dbSNP:rs2303398Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY007723 mRNA Translation: AAG15576.1
AK172820 mRNA Translation: BAD18789.1 Frameshift.
AK312030 mRNA Translation: BAG34967.1
CH471060 Genomic DNA Translation: EAW91981.1
BC012367 mRNA Translation: AAH12367.1
CCDSiCCDS75780.1
RefSeqiNP_443118.1, NM_052886.2
UniGeneiHs.201083

Genome annotation databases

EnsembliENST00000614891; ENSP00000479708; ENSG00000147676
GeneIDi114569
KEGGihsa:114569
UCSCiuc033bxh.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMAL2_HUMAN
AccessioniPrimary (citable) accession number: Q969L2
Secondary accession number(s): B2R520, Q6ZMD9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: December 1, 2001
Last modified: May 23, 2018
This is version 129 of the entry and version 1 of the sequence. See 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 8
    Human chromosome 8: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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