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Protein

Late secretory pathway protein AVL9 homolog

Gene

AVL9

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

Functioni

Functions in cell migration.1 Publication

GO - Biological processi

  • cell migration Source: UniProtKB
Complete GO annotation...

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

HGNCiHGNC:28994. AVL9.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei214 – 23017HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • recycling endosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164716408.

Polymorphism and mutation databases

BioMutaiAVL9.
DMDMi74730135.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 648648Late secretory pathway protein AVL9 homologPRO_0000247178Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei244 – 2441PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NBF6.
MaxQBiQ8NBF6.
PaxDbiQ8NBF6.
PeptideAtlasiQ8NBF6.
PRIDEiQ8NBF6.

PTM databases

iPTMnetiQ8NBF6.
PhosphoSiteiQ8NBF6.

Expressioni

Gene expression databases

BgeeiENSG00000105778.
CleanExiHS_AVL9.
ExpressionAtlasiQ8NBF6. baseline and differential.
GenevisibleiQ8NBF6. HS.

Organism-specific databases

HPAiHPA050957.
HPA058573.

Interactioni

Protein-protein interaction databases

BioGridi116711. 11 interactions.
IntActiQ8NBF6. 8 interactions.
STRINGi9606.ENSP00000315568.

Structurei

3D structure databases

ProteinModelPortaliQ8NBF6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the AVL9 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3823. Eukaryota.
ENOG410YCF2. LUCA.
GeneTreeiENSGT00390000010255.
HOGENOMiHOG000021680.
HOVERGENiHBG072150.
InParanoidiQ8NBF6.
OMAiKSAMSSW.
OrthoDBiEOG091G07FP.
PhylomeDBiQ8NBF6.
TreeFamiTF105998.

Family and domain databases

InterProiIPR018307. ABL9/DENND6_dom.
[Graphical view]
PfamiPF09794. Avl9. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti257 – 2571C → S.
Corresponds to variant rs2290213 [ dbSNP | Ensembl ].
VAR_027083

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei524 – 58966DNEKI…NSERG → VLFRIVNVA in isoform 2. 1 PublicationVSP_019943Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8NBF6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116711. 11 interactions.
IntActiQ8NBF6. 8 interactions.
STRINGi9606.ENSP00000315568.

PTM databases

iPTMnetiQ8NBF6.
PhosphoSiteiQ8NBF6.

Polymorphism and mutation databases

BioMutaiAVL9.
DMDMi74730135.

Proteomic databases

EPDiQ8NBF6.
MaxQBiQ8NBF6.
PaxDbiQ8NBF6.
PeptideAtlasiQ8NBF6.
PRIDEiQ8NBF6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi23080.
GeneCardsiAVL9.
H-InvDBHIX0006581.
HGNCiHGNC:28994. AVL9.
HPAiHPA050957.
HPA058573.
MIMi612927. gene.
neXtProtiNX_Q8NBF6.
PharmGKBiPA164716408.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3823. Eukaryota.
ENOG410YCF2. LUCA.
GeneTreeiENSGT00390000010255.
HOGENOMiHOG000021680.
HOVERGENiHBG072150.
InParanoidiQ8NBF6.
OMAiKSAMSSW.
OrthoDBiEOG091G07FP.
PhylomeDBiQ8NBF6.
TreeFamiTF105998.

Miscellaneous databases

ChiTaRSiAVL9. human.
GenomeRNAii23080.
PROiQ8NBF6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105778.
CleanExiHS_AVL9.
ExpressionAtlasiQ8NBF6. baseline and differential.
GenevisibleiQ8NBF6. HS.

Family and domain databases

InterProiIPR018307. ABL9/DENND6_dom.
[Graphical view]
PfamiPF09794. Avl9. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAVL9_HUMAN
AccessioniPrimary (citable) accession number: Q8NBF6
Secondary accession number(s): Q92573
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: October 1, 2002
Last modified: September 7, 2016
This is version 94 of the entry and version 1 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 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

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.