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Protein

Actin filament-associated protein 1-like 2

Gene

AFAP1L2

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

Functioni

May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation.1 Publication

GO - Molecular functioni

  • protein tyrosine kinase activator activity Source: HGNC
  • SH2 domain binding Source: HGNC
  • SH3 domain binding Source: HGNC
  • signaling adaptor activity Source: InterPro

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Actin filament-associated protein 1-like 2
Short name:
AFAP1-like protein 2
Gene namesi
Name:AFAP1L2
Synonyms:KIAA1914, XB130
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000169129.14
HGNCiHGNC:25901 AFAP1L2
MIMi612420 gene
neXtProtiNX_Q8N4X5

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

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi4Y → F: Reduced interaction with SRC. 1 Publication1

Organism-specific databases

DisGeNETi84632
OpenTargetsiENSG00000169129
PharmGKBiPA162375773

Polymorphism and mutation databases

BioMutaiAFAP1L2
DMDMi68052360

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000508051 – 818Actin filament-associated protein 1-like 2Add BLAST818

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei56PhosphotyrosineBy similarity1
Modified residuei408PhosphoserineBy similarity1
Modified residuei413PhosphotyrosineBy similarity1
Modified residuei484PhosphoserineBy similarity1

Post-translational modificationi

Tyrosine phosphorylated (by SRC).2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N4X5
MaxQBiQ8N4X5
PaxDbiQ8N4X5
PeptideAtlasiQ8N4X5
PRIDEiQ8N4X5
ProteomicsDBi71986
71987 [Q8N4X5-2]
71988 [Q8N4X5-3]
71989 [Q8N4X5-4]

PTM databases

iPTMnetiQ8N4X5
PhosphoSitePlusiQ8N4X5

Expressioni

Tissue specificityi

Detected in spleen and thyroid, and at lower levels in kidney, brain, lung and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000169129 Expressed in 163 organ(s), highest expression level in tibial nerve
CleanExiHS_AFAP1L2
ExpressionAtlasiQ8N4X5 baseline and differential
GenevisibleiQ8N4X5 HS

Organism-specific databases

HPAiHPA037843

Interactioni

Subunit structurei

Interacts with SRC. Interacts with LCK when tyrosine phosphorylated.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi124161, 7 interactors
IntActiQ8N4X5, 7 interactors
STRINGi9606.ENSP00000303042

Structurei

Secondary structure

1818
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8N4X5
SMRiQ8N4X5
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8N4X5

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini175 – 271PH 1PROSITE-ProRule annotationAdd BLAST97
Domaini353 – 447PH 2PROSITE-ProRule annotationAdd BLAST95

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili652 – 749Sequence analysisAdd BLAST98

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IEU6 Eukaryota
ENOG4111CMN LUCA
GeneTreeiENSGT00390000003998
HOVERGENiHBG106875
InParanoidiQ8N4X5
OMAiQWKSRWC
OrthoDBiEOG091G03NB
PhylomeDBiQ8N4X5
TreeFamiTF332622

Family and domain databases

Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR030113 AFAP
IPR030115 AFAP1L2
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
PANTHERiPTHR14338 PTHR14338, 1 hit
PTHR14338:SF4 PTHR14338:SF4, 1 hit
PfamiView protein in Pfam
PF00169 PH, 2 hits
SMARTiView protein in SMART
SM00233 PH, 2 hits
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 2 hits

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.iShow all

Isoform 1 (identifier: Q8N4X5-1) [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
MERYKALEQL LTELDDFLKI LDQENLSSTA LVKKSCLAEL LRLYTKSSSS
60 70 80 90 100
DEEYIYMNKV TINKQQNAES QGKAPEEQGL LPNGEPSQHS SAPQKSLPDL
110 120 130 140 150
PPPKMIPERK QLAIPKTESP EGYYEEAEPY DTSLNEDGEA VSSSYESYDE
160 170 180 190 200
EDGSKGKSAP YQWPSPEAGI ELMRDARICA FLWRKKWLGQ WAKQLCVIKD
210 220 230 240 250
NRLLCYKSSK DHSPQLDVNL LGSSVIHKEK QVRKKEHKLK ITPMNADVIV
260 270 280 290 300
LGLQSKDQAE QWLRVIQEVS GLPSEGASEG NQYTPDAQRF NCQKPDIAEK
310 320 330 340 350
YLSASEYGSS VDGHPEVPET KDVKKKCSAG LKLSNLMNLG RKKSTSLEPV
360 370 380 390 400
ERSLETSSYL NVLVNSQWKS RWCSVRDNHL HFYQDRNRSK VAQQPLSLVG
410 420 430 440 450
CEVVPDPSPD HLYSFRILHK GEELAKLEAK SSEEMGHWLG LLLSESGSKT
460 470 480 490 500
DPEEFTYDYV DADRVSCIVS AAKNSLLLMQ RKFSEPNTYI DGLPSQDRQE
510 520 530 540 550
ELYDDVDLSE LTAAVEPTEE ATPVADDPNE RESDRVYLDL TPVKSFLHGP
560 570 580 590 600
SSAQAQASSP TLSCLDNATE ALPADSGPGP TPDEPCIKCP ENLGEQQLES
610 620 630 640 650
LEPEDPSLRI TTVKIQTEQQ RISFPPSCPD AVVATPPGAS PPVKDRLRVT
660 670 680 690 700
SAEIKLGKNR TEAEVKRYTE EKERLEKKKE EIRGHLAQLR KEKRELKETL
710 720 730 740 750
LKCTDKEVLA SLEQKLKEID EECRGEESRR VDLELSIMEV KDNLKKAEAG
760 770 780 790 800
PVTLGTTVDT THLENVSPRP KAVTPASAPD CTPVNSATTL KNRPLSVVVT
810
GKGTVLQKAK EWEKKGAS
Length:818
Mass (Da):91,300
Last modified:October 1, 2002 - v1
Checksum:i36040D6D09491DA8
GO
Isoform 2 (identifier: Q8N4X5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     766-769: Missing.

Show »
Length:814
Mass (Da):90,860
Checksum:i9C5F035A6B486D83
GO
Isoform 3 (identifier: Q8N4X5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-478: Missing.
     811-818: EWEKKGAS → VSSHSQPPLGPAEMSLR

Show »
Length:349
Mass (Da):38,300
Checksum:i8E2805F99A1A4DAF
GO
Isoform 4 (identifier: Q8N4X5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     135-135: N → NGHSGGFLPTGVPRWVQVPERVIYATITL
     766-769: Missing.

Show »
Length:842
Mass (Da):93,894
Checksum:i6E74C70CDB401E24
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6QUH3F6QUH3_HUMAN
Actin filament-associated protein 1...
AFAP1L2
312Annotation score:

Sequence cautioni

The sequence BAB67807 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti13E → K in BAF84401 (PubMed:14702039).Curated1
Sequence conflicti224S → G in BAF84401 (PubMed:14702039).Curated1
Sequence conflicti567N → D in BAB55135 (PubMed:14702039).Curated1
Sequence conflicti596Missing in BAB55135 (PubMed:14702039).Curated1
Sequence conflicti605D → Y in BAB55135 (PubMed:14702039).Curated1
Sequence conflicti608L → Q in AAQ05765 (Ref. 1) Curated1
Sequence conflicti630D → G in BAF84401 (PubMed:14702039).Curated1
Sequence conflicti758V → L in AAQ05765 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050505138G → R. Corresponds to variant dbSNP:rs11196689Ensembl.1
Natural variantiVAR_050506366S → R. Corresponds to variant dbSNP:rs7075067Ensembl.1
Natural variantiVAR_050507522T → S. Corresponds to variant dbSNP:rs2781806Ensembl.1
Natural variantiVAR_054214726E → K. Corresponds to variant dbSNP:rs11599051Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0142541 – 478Missing in isoform 3. 1 PublicationAdd BLAST478
Alternative sequenceiVSP_036211135N → NGHSGGFLPTGVPRWVQVPE RVIYATITL in isoform 4. 1 Publication1
Alternative sequenceiVSP_014255766 – 769Missing in isoform 2 and isoform 4. 2 Publications4
Alternative sequenceiVSP_014256811 – 818EWEKKGAS → VSSHSQPPLGPAEMSLR in isoform 3. 1 Publication8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF474151 mRNA Translation: AAQ05765.1
AB067501 mRNA Translation: BAB67807.1 Different initiation.
AC005383 Genomic DNA No translation available.
AL133384 Genomic DNA No translation available.
AL355302 Genomic DNA No translation available.
AK027470 mRNA Translation: BAB55135.1
AK291712 mRNA Translation: BAF84401.1
AK123108 mRNA Translation: BAG53870.1
BC024314 mRNA Translation: AAH24314.1
BC033212 mRNA Translation: AAH33212.1
CCDSiCCDS31286.1 [Q8N4X5-1]
CCDS31287.1 [Q8N4X5-2]
RefSeqiNP_001001936.1, NM_001001936.2 [Q8N4X5-1]
NP_001274753.1, NM_001287824.1
NP_115939.1, NM_032550.3 [Q8N4X5-2]
UniGeneiHs.501106

Genome annotation databases

EnsembliENST00000304129; ENSP00000303042; ENSG00000169129 [Q8N4X5-1]
ENST00000369271; ENSP00000358276; ENSG00000169129 [Q8N4X5-2]
GeneIDi84632
KEGGihsa:84632
UCSCiuc001lbn.5 human [Q8N4X5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAF1L2_HUMAN
AccessioniPrimary (citable) accession number: Q8N4X5
Secondary accession number(s): A8K6P7
, B3KVQ8, Q2UZW3, Q8TB54, Q96PX4, Q96SY5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 21, 2005
Last sequence update: October 1, 2002
Last modified: September 12, 2018
This is version 141 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

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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