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Entry version 162 (02 Jun 2021)
Sequence version 1 (01 Oct 2002)
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Protein

Actin filament-associated protein 1-like 2

Gene

AFAP1L2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N4X5

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8N4X5

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Actin filament-associated protein 1-like 2
Short name:
AFAP1-like protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AFAP1L2
Synonyms:KIAA1914, XB130
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25901, AFAP1L2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612420, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N4X5

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000169129.14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi4Y → F: Reduced interaction with SRC. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
84632

Open Targets

More...
OpenTargetsi
ENSG00000169129

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162375773

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N4X5, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AFAP1L2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
68052360

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000508051 – 818Actin filament-associated protein 1-like 2Add BLAST818

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei56PhosphotyrosineBy similarity1
Modified residuei408PhosphoserineBy similarity1
Modified residuei413PhosphotyrosineBy similarity1
Modified residuei484PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Tyrosine phosphorylated (by SRC).2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N4X5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8N4X5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N4X5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8N4X5

PeptideAtlas

More...
PeptideAtlasi
Q8N4X5

PRoteomics IDEntifications database

More...
PRIDEi
Q8N4X5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
71986 [Q8N4X5-1]
71987 [Q8N4X5-2]
71988 [Q8N4X5-3]
71989 [Q8N4X5-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N4X5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N4X5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169129, Expressed in sural nerve and 178 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N4X5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N4X5, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000169129, Tissue enhanced (thyroid)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SRC.

Interacts with LCK when tyrosine phosphorylated.

2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
124161, 12 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N4X5, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000303042

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N4X5, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Biological Magnetic Resonance Data Bank

More...
BMRBi
Q8N4X5

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8N4X5

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q8N4X5

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini175 – 271PH 1PROSITE-ProRule annotationAdd BLAST97
Domaini353 – 447PH 2PROSITE-ProRule annotationAdd BLAST95

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni66 – 163DisorderedSequence analysisAdd BLAST98
Regioni513 – 532DisorderedSequence analysisAdd BLAST20
Regioni765 – 787DisorderedSequence analysisAdd BLAST23

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili652 – 749Sequence analysisAdd BLAST98

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QQA8, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183067

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_014418_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N4X5

Identification of Orthologs from Complete Genome Data

More...
OMAi
CTVIHKE

Database of Orthologous Groups

More...
OrthoDBi
256810at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N4X5

TreeFam database of animal gene trees

More...
TreeFami
TF332622

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.29.30, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR030113, AFAP
IPR030115, AFAP1L2
IPR011993, PH-like_dom_sf
IPR001849, PH_domain

The PANTHER Classification System

More...
PANTHERi
PTHR14338, PTHR14338, 1 hit
PTHR14338:SF4, PTHR14338:SF4, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00169, PH, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00233, PH, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50003, PH_DOMAIN, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N4X5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31286.1 [Q8N4X5-1]
CCDS31287.1 [Q8N4X5-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001001936.1, NM_001001936.2 [Q8N4X5-1]
NP_001274753.1, NM_001287824.1
NP_115939.1, NM_032550.3 [Q8N4X5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000304129; ENSP00000303042; ENSG00000169129 [Q8N4X5-1]
ENST00000369271; ENSP00000358276; ENSG00000169129 [Q8N4X5-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84632

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84632

UCSC genome browser

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UCSCi
uc001lbn.5, human [Q8N4X5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2COFNMR-A354-447[»]
BMRBiQ8N4X5
SMRiQ8N4X5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi124161, 12 interactors
IntActiQ8N4X5, 7 interactors
STRINGi9606.ENSP00000303042

PTM databases

iPTMnetiQ8N4X5
PhosphoSitePlusiQ8N4X5

Genetic variation databases

BioMutaiAFAP1L2
DMDMi68052360

Proteomic databases

jPOSTiQ8N4X5
MassIVEiQ8N4X5
MaxQBiQ8N4X5
PaxDbiQ8N4X5
PeptideAtlasiQ8N4X5
PRIDEiQ8N4X5
ProteomicsDBi71986 [Q8N4X5-1]
71987 [Q8N4X5-2]
71988 [Q8N4X5-3]
71989 [Q8N4X5-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31934, 129 antibodies

The DNASU plasmid repository

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DNASUi
84632

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84632
DisGeNETi84632

GeneCards: human genes, protein and diseases

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GeneCardsi
AFAP1L2
HGNCiHGNC:25901, AFAP1L2
HPAiENSG00000169129, Tissue enhanced (thyroid)
MIMi612420, gene
neXtProtiNX_Q8N4X5
OpenTargetsiENSG00000169129
PharmGKBiPA162375773
VEuPathDBiHostDB:ENSG00000169129.14

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QQA8, Eukaryota
GeneTreeiENSGT00950000183067
HOGENOMiCLU_014418_0_0_1
InParanoidiQ8N4X5
OMAiCTVIHKE
OrthoDBi256810at2759
PhylomeDBiQ8N4X5
TreeFamiTF332622

Enzyme and pathway databases

PathwayCommonsiQ8N4X5
SIGNORiQ8N4X5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
84632, 3 hits in 989 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
AFAP1L2, human
EvolutionaryTraceiQ8N4X5

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
84632
PharosiQ8N4X5, Tbio

Protein Ontology

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PROi
PR:Q8N4X5
RNActiQ8N4X5, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000169129, Expressed in sural nerve and 178 other tissues
ExpressionAtlasiQ8N4X5, baseline and differential
GenevisibleiQ8N4X5, HS

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

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAF1L2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N4X5
Secondary accession number(s): A8K6P7
, B3KVQ8, Q2UZW3, Q8TB54, Q96PX4, Q96SY5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 21, 2005
Last sequence update: October 1, 2002
Last modified: June 2, 2021
This is version 162 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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