Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8N4X5 (AF1L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Actin filament-associated protein 1-like 2

Short name=AFAP1-like protein 2
Gene names
Name:AFAP1L2
Synonyms:KIAA1914, XB130
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length818 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in a signaling cascade by enhancing the kinase activity of SRC. Contributes to SRC-regulated transcription activation. Ref.6

Subunit structure

Interacts with SRC. Interacts with LCK when tyrosine phosphorylated. Ref.6 Ref.7

Subcellular location

Cytoplasm Ref.6.

Tissue specificity

Detected in spleen and thyroid, and at lower levels in kidney, brain, lung and pancreas. Ref.6

Post-translational modification

Tyrosine phosphorylated (by SRC). Ref.6 Ref.7

Sequence similarities

Contains 2 PH domains.

Sequence caution

The sequence BAB67807.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N4X5-1)

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.
Isoform 2 (identifier: Q8N4X5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     766-769: Missing.
Isoform 3 (identifier: Q8N4X5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-478: Missing.
     811-818: EWEKKGAS → VSSHSQPPLGPAEMSLR
Isoform 4 (identifier: Q8N4X5-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 818818Actin filament-associated protein 1-like 2
PRO_0000050805

Regions

Domain175 – 27197PH 1
Domain353 – 44795PH 2
Coiled coil652 – 74998 Potential

Amino acid modifications

Modified residue561Phosphotyrosine By similarity
Modified residue4131Phosphotyrosine By similarity

Natural variations

Alternative sequence1 – 478478Missing in isoform 3.
VSP_014254
Alternative sequence1351N → NGHSGGFLPTGVPRWVQVPE RVIYATITL in isoform 4.
VSP_036211
Alternative sequence766 – 7694Missing in isoform 2 and isoform 4.
VSP_014255
Alternative sequence811 – 8188EWEKKGAS → VSSHSQPPLGPAEMSLR in isoform 3.
VSP_014256
Natural variant1381G → R.
Corresponds to variant rs11196689 [ dbSNP | Ensembl ].
VAR_050505
Natural variant3661S → R.
Corresponds to variant rs7075067 [ dbSNP | Ensembl ].
VAR_050506
Natural variant5221T → S.
Corresponds to variant rs2781806 [ dbSNP | Ensembl ].
VAR_050507
Natural variant7261E → K.
Corresponds to variant rs11599051 [ dbSNP | Ensembl ].
VAR_054214

Experimental info

Mutagenesis41Y → F: Reduced interaction with SRC. Ref.6
Sequence conflict131E → K in BAF84401. Ref.4
Sequence conflict2241S → G in BAF84401. Ref.4
Sequence conflict5671N → D in BAB55135. Ref.4
Sequence conflict5961Missing in BAB55135. Ref.4
Sequence conflict6051D → Y in BAB55135. Ref.4
Sequence conflict6081L → Q in AAQ05765. Ref.1
Sequence conflict6301D → G in BAF84401. Ref.4
Sequence conflict7581V → L in AAQ05765. Ref.1

Secondary structure

................... 818
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 36040D6D09491DA8

FASTA81891,300
        10         20         30         40         50         60 
MERYKALEQL LTELDDFLKI LDQENLSSTA LVKKSCLAEL LRLYTKSSSS DEEYIYMNKV 

        70         80         90        100        110        120 
TINKQQNAES QGKAPEEQGL LPNGEPSQHS SAPQKSLPDL PPPKMIPERK QLAIPKTESP 

       130        140        150        160        170        180 
EGYYEEAEPY DTSLNEDGEA VSSSYESYDE EDGSKGKSAP YQWPSPEAGI ELMRDARICA 

       190        200        210        220        230        240 
FLWRKKWLGQ WAKQLCVIKD NRLLCYKSSK DHSPQLDVNL LGSSVIHKEK QVRKKEHKLK 

       250        260        270        280        290        300 
ITPMNADVIV LGLQSKDQAE QWLRVIQEVS GLPSEGASEG NQYTPDAQRF NCQKPDIAEK 

       310        320        330        340        350        360 
YLSASEYGSS VDGHPEVPET KDVKKKCSAG LKLSNLMNLG RKKSTSLEPV ERSLETSSYL 

       370        380        390        400        410        420 
NVLVNSQWKS RWCSVRDNHL HFYQDRNRSK VAQQPLSLVG CEVVPDPSPD HLYSFRILHK 

       430        440        450        460        470        480 
GEELAKLEAK SSEEMGHWLG LLLSESGSKT DPEEFTYDYV DADRVSCIVS AAKNSLLLMQ 

       490        500        510        520        530        540 
RKFSEPNTYI DGLPSQDRQE ELYDDVDLSE LTAAVEPTEE ATPVADDPNE RESDRVYLDL 

       550        560        570        580        590        600 
TPVKSFLHGP SSAQAQASSP TLSCLDNATE ALPADSGPGP TPDEPCIKCP ENLGEQQLES 

       610        620        630        640        650        660 
LEPEDPSLRI TTVKIQTEQQ RISFPPSCPD AVVATPPGAS PPVKDRLRVT SAEIKLGKNR 

       670        680        690        700        710        720 
TEAEVKRYTE EKERLEKKKE EIRGHLAQLR KEKRELKETL LKCTDKEVLA SLEQKLKEID 

       730        740        750        760        770        780 
EECRGEESRR VDLELSIMEV KDNLKKAEAG PVTLGTTVDT THLENVSPRP KAVTPASAPD 

       790        800        810 
CTPVNSATTL KNRPLSVVVT GKGTVLQKAK EWEKKGAS 

« Hide

Isoform 2 [UniParc].

Checksum: 9C5F035A6B486D83
Show »

FASTA81490,860
Isoform 3 [UniParc].

Checksum: 8E2805F99A1A4DAF
Show »

FASTA34938,300
Isoform 4 [UniParc].

Checksum: 6E74C70CDB401E24
Show »

FASTA84293,894

References

« Hide 'large scale' references
[1]"XB130, a novel adaptor protein for Src binding and activation."
Bai X.-H., Keshavjee S., Liu M.
Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."
Nagase T., Kikuno R., Ohara O.
DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Brain.
[3]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
Tissue: Cerebellum and Placenta.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Pancreas.
[6]"XB130, a novel adaptor protein for signal transduction."
Xu J., Bai X.-H., Lodyga M., Han B., Xiao H., Keshavjee S., Hu J., Zhang H., Yang B.B., Liu M.
J. Biol. Chem. 282:16401-16412(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH SRC, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF TYR-4, PHOSPHORYLATION.
[7]"Odin (ANKS1A) is a Src family kinase target in colorectal cancer cells."
Emaduddin M., Edelmann M.J., Kessler B.M., Feller S.M.
Cell Commun. Signal. 6:7-7(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION, INTERACTION WITH LCK, IDENTIFICATION BY MASS SPECTROMETRY.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Solution structure of the C-terminal PH domain of hypothetical protein KIAA1914 from human."
RIKEN structural genomics initiative (RSGI)
Submitted (NOV-2005) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 354-448.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF474151 mRNA. Translation: AAQ05765.1.
AB067501 mRNA. Translation: BAB67807.1. Different initiation.
AL355302, AC005383, AL133384 Genomic DNA. Translation: CAI14967.1.
AL355302, AC005383, AL133384 Genomic DNA. Translation: CAI14968.1.
AL133384, AC005383, AL355302 Genomic DNA. Translation: CAI40128.1.
AL133384, AC005383, AL355302 Genomic DNA. Translation: CAI40129.1.
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.
CCDSCCDS31286.1. [Q8N4X5-1]
CCDS31287.1. [Q8N4X5-2]
RefSeqNP_001001936.1. NM_001001936.2. [Q8N4X5-1]
NP_001274753.1. NM_001287824.1.
NP_115939.1. NM_032550.3. [Q8N4X5-2]
UniGeneHs.501106.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2COFNMR-A354-447[»]
ProteinModelPortalQ8N4X5.
SMRQ8N4X5. Positions 179-269, 354-443.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124161. 7 interactions.
MINTMINT-2877327.
STRING9606.ENSP00000303042.

PTM databases

PhosphoSiteQ8N4X5.

Polymorphism databases

DMDM68052360.

Proteomic databases

MaxQBQ8N4X5.
PaxDbQ8N4X5.
PRIDEQ8N4X5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000304129; ENSP00000303042; ENSG00000169129. [Q8N4X5-1]
ENST00000369271; ENSP00000358276; ENSG00000169129. [Q8N4X5-2]
GeneID84632.
KEGGhsa:84632.
UCSCuc001lbm.3. human. [Q8N4X5-3]
uc001lbn.3. human. [Q8N4X5-1]
uc001lbo.3. human. [Q8N4X5-2]
uc001lbp.3. human. [Q8N4X5-4]

Organism-specific databases

CTD84632.
GeneCardsGC10M116045.
HGNCHGNC:25901. AFAP1L2.
HPAHPA037843.
MIM612420. gene.
neXtProtNX_Q8N4X5.
PharmGKBPA162375773.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG308979.
HOVERGENHBG106875.
InParanoidQ8N4X5.
OrthoDBEOG7KQ217.
PhylomeDBQ8N4X5.
TreeFamTF332622.

Gene expression databases

ArrayExpressQ8N4X5.
BgeeQ8N4X5.
CleanExHS_AFAP1L2.
GenevestigatorQ8N4X5.

Family and domain databases

Gene3D2.30.29.30. 2 hits.
InterProIPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
[Graphical view]
PfamPF00169. PH. 2 hits.
[Graphical view]
SMARTSM00233. PH. 2 hits.
[Graphical view]
PROSITEPS50003. PH_DOMAIN. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ8N4X5.
GenomeRNAi84632.
NextBio74555.
PROQ8N4X5.
SOURCESearch...

Entry information

Entry nameAF1L2_HUMAN
AccessionPrimary (citable) accession number: Q8N4X5
Secondary accession number(s): A8K6P7 expand/collapse secondary AC list , B3KVQ8, Q2UZW3, Q8TB54, Q96PX4, Q96SY5
Entry history
Integrated into UniProtKB/Swiss-Prot: June 21, 2005
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM