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Protein

Late secretory pathway protein AVL9 homolog

Gene

AVL9

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

Functioni

Functions in cell migration.1 Publication

GO - Biological processi

  • cell migration Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Late secretory pathway protein AVL9 homolog
Gene namesi
Name:AVL9
Synonyms:KIAA0241
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000105778.17
HGNCiHGNC:28994 AVL9
MIMi612927 gene
neXtProtiNX_Q8NBF6

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
Transmembranei214 – 230HelicalSequence analysisAdd BLAST17

Keywords - Cellular componenti

Endosome, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi23080
OpenTargetsiENSG00000105778
PharmGKBiPA164716408

Polymorphism and mutation databases

BioMutaiAVL9
DMDMi74730135

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002471781 – 648Late secretory pathway protein AVL9 homologAdd BLAST648

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei244PhosphoserineBy similarity1
Modified residuei588Omega-N-methylarginineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ8NBF6
MaxQBiQ8NBF6
PaxDbiQ8NBF6
PeptideAtlasiQ8NBF6
PRIDEiQ8NBF6

PTM databases

iPTMnetiQ8NBF6
PhosphoSitePlusiQ8NBF6

Expressioni

Gene expression databases

BgeeiENSG00000105778
CleanExiHS_AVL9
ExpressionAtlasiQ8NBF6 baseline and differential
GenevisibleiQ8NBF6 HS

Organism-specific databases

HPAiHPA050957

Interactioni

Protein-protein interaction databases

BioGridi116711, 12 interactors
IntActiQ8NBF6, 8 interactors
STRINGi9606.ENSP00000315568

Structurei

3D structure databases

ProteinModelPortaliQ8NBF6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini17 – 161uDENNPROSITE-ProRule annotationAdd BLAST145
Domaini173 – 340cDENNPROSITE-ProRule annotationAdd BLAST168
Domaini342 – 593dDENNPROSITE-ProRule annotationAdd BLAST252

Sequence similaritiesi

Belongs to the AVL9 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3823 Eukaryota
ENOG410YCF2 LUCA
GeneTreeiENSGT00390000010255
HOGENOMiHOG000021680
HOVERGENiHBG072150
InParanoidiQ8NBF6
OMAiTMQNSES
OrthoDBiEOG091G07FP
PhylomeDBiQ8NBF6
TreeFamiTF105998

Family and domain databases

InterProiView protein in InterPro
IPR018307 ABL9/DENND6_dom
IPR037516 Tripartite_DENN
PfamiView protein in Pfam
PF09794 Avl9, 1 hit
PROSITEiView protein in PROSITE
PS50211 DENN, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NBF6-1) [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
MEKARRGGDG VPRGPVLHIV VVGFHHKKGC QVEFSYPPLI PGDGHDSHTL
60 70 80 90 100
PEEWKYLPFL ALPDGAHNYQ EDTVFFHLPP RNGNGATVFG ISCYRQIEAK
110 120 130 140 150
ALKVRQADIT RETVQKSVCV LSKLPLYGLL QAKLQLITHA YFEEKDFSQI
160 170 180 190 200
SILKELYEHM NSSLGGASLE GSQVYLGLSP RDLVLHFRHK VLILFKLILL
210 220 230 240 250
EKKVLFYISP VNKLVGALMT VLSLFPGMIE HGLSDCSQYR PRKSMSEDGG
260 270 280 290 300
LQESNPCADD FVSASTADVS HTNLGTIRKV MAGNHGEDAA MKTEEPLFQV
310 320 330 340 350
EDSSKGQEPN DTNQYLKPPS RPSPDSSESD WETLDPSVLE DPNLKEREQL
360 370 380 390 400
GSDQTNLFPK DSVPSESLPI TVQPQANTGQ VVLIPGLISG LEEDQYGMPL
410 420 430 440 450
AIFTKGYLCL PYMALQQHHL LSDVTVRGFV AGATNILFRQ QKHLSDAIVE
460 470 480 490 500
VEEALIQIHD PELRKLLNPT TADLRFADYL VRHVTENRDD VFLDGTGWEG
510 520 530 540 550
GDEWIRAQFA VYIHALLAAT LQLDNEKILS DYGTTFVTAW KNTHNYRVWN
560 570 580 590 600
SNKHPALAEI NPNHPFQGQY SVSDMKLRFS HSVQNSERGK KIGNVMVTTS
610 620 630 640
RNVVQTGKAV GQSVGGAFSS AKTAMSSWLS TFTTSTSQSL TEPPDEKP
Length:648
Mass (Da):71,947
Last modified:October 1, 2002 - v1
Checksum:i3F59F3CA68596009
GO
Isoform 2 (identifier: Q8NBF6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     524-589: DNEKILSDYGTTFVTAWKNTHNYRVWNSNKHPALAEINPNHPFQGQYSVSDMKLRFSHSVQNSERG → VLFRIVNVA

Show »
Length:591
Mass (Da):65,313
Checksum:i8E3D03C90905783C
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027083257C → S. Corresponds to variant dbSNP:rs2290213Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019943524 – 589DNEKI…NSERG → VLFRIVNVA in isoform 2. 1 PublicationAdd BLAST66

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090619 mRNA Translation: BAC03489.1
AACC02000087 Genomic DNA Translation: EAL24439.1
D87682 mRNA Translation: BAA13435.1
CCDSiCCDS34613.1 [Q8NBF6-1]
RefSeqiNP_055875.1, NM_015060.2 [Q8NBF6-1]
UniGeneiHs.128056

Genome annotation databases

EnsembliENST00000318709; ENSP00000315568; ENSG00000105778 [Q8NBF6-1]
GeneIDi23080
KEGGihsa:23080
UCSCiuc003tcv.2 human [Q8NBF6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAVL9_HUMAN
AccessioniPrimary (citable) accession number: Q8NBF6
Secondary accession number(s): Q92573
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: October 1, 2002
Last modified: April 25, 2018
This is version 103 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 7
    Human chromosome 7: 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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