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Protein

Actin-associated protein FAM107A

Gene

FAM107A

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

Stress-inducible actin-binding protein that plays a role in synaptic and cognitive functions by modulating actin filamentous (F-actin) dynamics. Mediates polymerization of globular actin to F-actin. Also binds to, stabilizes and bundles F-actin. Involved in synaptic function by regulating neurite outgrowth in an actin-dependent manner and for the acquisition of hippocampus-dependent cognitive function, such as learning and long-term memory (By similarity). Plays a role in the actin and microtubule cytoskeleton organization; negatively regulates focal adhesion (FA) assembly promoting malignant glial cell migration in an actin-, microtubule- and MAP1A-dependent manner (PubMed:20543869). Also involved in neuroblastoma G1/S phase cell cycle progression and cell proliferation inhibition by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a COMMD1- and actin-dependent manner (PubMed:10564580, PubMed:28604741). May play a role in tumor development (PubMed:10564580).By similarity3 Publications

<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

<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>Keywordsi

Molecular functionActin-binding
Biological processCell cycle, Growth regulation, Stress response

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O95990

<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_and_taxonomy_section">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-associated protein FAM107ACurated
Alternative name(s):
Down-regulated in renal cell carcinoma 11 Publication
Protein TU3A1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:FAM107AImported
Synonyms:DRR11 Publication, TU3A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000168309.16

Human Gene Nomenclature Database

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HGNCi
HGNC:30827 FAM107A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608295 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95990

<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

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

Cell junction, Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Nucleus, Synapse

<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_and_biotech_section">'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>Mutagenesisi48 – 50Missing : Increases nuclear and diffused cytoplasm localization, decreases interaction with MAP1A, alters actin cytoskeleton organization and decreases focal adhesion (FA) disassembly and cell migration. 1 Publication3
Mutagenesisi65 – 66PE → AA: Increases diffused cytoplasm localization, loss of interaction with ACTB and colocalization with nuclear F-actin, decreases COMMD1 protein stability and ubiquitination of NF-kappa-B subunit RELA and decreases focal adhesion (FA) disassembly and cell migration; when associated with 122-A-A-123. 1 Publication2
Mutagenesisi74 – 76RRR → AAA: Decreases nuclear localization and ubiquitination of NF-kappa-B subunit RELA. 1 Publication3
Mutagenesisi81 – 84KKKK → AAAA: Decreases nuclear localization. 1 Publication4
Mutagenesisi122 – 123PE → AA: Increases diffused cytoplasm localization, loss of interaction with ACTB and colocalization with nuclear F-actin, decreases COMMD1 protein stability and ubiquitination of NF-kappa-B subunit RELA and decreases focal adhesion (FA) disassembly and cell migration; when associated with 65-A-A-66. 1 Publication2

Organism-specific databases

DisGeNET

More...
DisGeNETi
11170

Open Targets

More...
OpenTargetsi
ENSG00000168309

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485464

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FAM107A

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000800141 – 144Actin-associated protein FAM107AAdd BLAST144

Proteomic databases

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

More...
PaxDbi
O95990

PeptideAtlas

More...
PeptideAtlasi
O95990

PRoteomics IDEntifications database

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PRIDEi
O95990

ProteomicsDB human proteome resource

More...
ProteomicsDBi
51166
51167 [O95990-2]

<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

Widely expressed (PubMed:10564580). Expressed in neurons (PubMed:20543869). Expressed in malignant glial tumors (PubMed:20543869). Expression is reduced or absent in a number of cancer cell lines (PubMed:10564580).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168309 Expressed in 223 organ(s), highest expression level in entorhinal cortex

CleanEx database of gene expression profiles

More...
CleanExi
HS_FAM107A

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95990 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95990 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA055888

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ACTB (PubMed:21969592, PubMed:28604741). Interacts with COMMD1; this interaction stabilizes COMMD1 in the nucleus (PubMed:28604741). Interacts with MAP1A (PubMed:20543869). Interacts with PRDX1 (PubMed:21969592). Interacts with F-actin (By similarity).By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116341, 52 interactors

Protein interaction database and analysis system

More...
IntActi
O95990, 31 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000354270

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O95990

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

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 coili66 – 112Sequence analysisAdd BLAST47

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi74 – 84Nuclear localization signal1 PublicationAdd BLAST11

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FAM107 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IX5W Eukaryota
ENOG4111Z4D LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000011228

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000048230

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG002824

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95990

Identification of Orthologs from Complete Genome Data

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OMAi
MNHRRGI

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95990

TreeFam database of animal gene trees

More...
TreeFami
TF325943

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009533 FAM107

The PANTHER Classification System

More...
PANTHERi
PTHR16768 PTHR16768, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06625 DUF1151, 1 hit

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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: O95990-1) [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
MYSEIQRERA DIGGLMARPE YREWNPELIK PKKLLNPVKA SRSHQELHRE
60 70 80 90 100
LLMNHRRGLG VDSKPELQRV LEHRRRNQLI KKKKEELEAK RLQCPFEQEL
110 120 130 140
LRRQQRLNQL EKPPEKEEDH APEFIKVREN LRRIATLTSE EREL
Length:144
Mass (Da):17,455
Last modified:May 1, 1999 - 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:i90C192C723D68A36
GO
Isoform 2 (identifier: O95990-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     110-144: LEKPPEKEEDHAPEFIKVRENLRRIATLTSEEREL → VGDGHPAGTTHPPGLSSREELCCGHS

Note: May be due to an intron retention. No experimental confirmation available.
Show »
Length:135
Mass (Da):15,853
Checksum:i07DB4059E0A02258
GO
Isoform 3 (identifier: O95990-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAQRLGEWARGPSDATGLYRAVLLRSAAM

Show »
Length:172
Mass (Da):20,455
Checksum:iD8874896A4CBE583
GO
Isoform 4 (identifier: O95990-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGAAQGKKKTYSPQARFHSENEKQRRNGSAAM

Show »
Length:175
Mass (Da):20,872
Checksum:i9B1079CEB91A4DCC
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
C9JAU5C9JAU5_HUMAN
Actin-associated protein FAM107A
FAM107A
105Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 4 (identifier: O95990-4)
<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 conflicti26R → Q in BAG51416 (PubMed:14702039).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_01723815L → M in ovarian cancer and renal cell carcinoma cell lines. 1 Publication1
Natural variantiVAR_01723919P → L in renal cell carcinoma cell line. 1 Publication1
Natural variantiVAR_04901689A → S. Corresponds to variant dbSNP:rs1043942Ensembl.1
Natural variantiVAR_049017141E → Q. Corresponds to variant dbSNP:rs11539086Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0548031M → MAQRLGEWARGPSDATGLYR AVLLRSAAM in isoform 3. 1 Publication1
Alternative sequenceiVSP_0548041M → MGAAQGKKKTYSPQARFHSE NEKQRRNGSAAM in isoform 4. 1 Publication1
Alternative sequenceiVSP_009232110 – 144LEKPP…EEREL → VGDGHPAGTTHPPGLSSREE LCCGHS in isoform 2. 1 PublicationAdd BLAST35

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
AF089854 mRNA Translation: AAD16094.1
AF089853 mRNA Translation: AAD16093.1
AB023810 Genomic DNA Translation: BAA83072.1
AB023811 mRNA Translation: BAA82845.1
AL050264 mRNA Translation: CAB43366.1
AK054720 mRNA Translation: BAG51416.1
AK055443 mRNA Translation: BAB70924.1
AK316450 mRNA Translation: BAH14821.1
AC116036 Genomic DNA No translation available.
AC119424 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW65380.1
BC010561 mRNA Translation: AAH10561.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2892.1 [O95990-1]
CCDS63672.1 [O95990-3]
CCDS63673.1 [O95990-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
T08666

NCBI Reference Sequences

More...
RefSeqi
NP_001070246.1, NM_001076778.2 [O95990-1]
NP_001269642.1, NM_001282713.1 [O95990-3]
NP_001269643.1, NM_001282714.1 [O95990-4]
NP_009108.1, NM_007177.3 [O95990-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.506357
Hs.729396

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000360997; ENSP00000354270; ENSG00000168309 [O95990-1]
ENST00000394481; ENSP00000377991; ENSG00000168309 [O95990-1]
ENST00000447756; ENSP00000400858; ENSG00000168309 [O95990-3]
ENST00000464064; ENSP00000419529; ENSG00000168309 [O95990-2]
ENST00000474531; ENSP00000419124; ENSG00000168309 [O95990-4]
ENST00000649301; ENSP00000497152; ENSG00000168309 [O95990-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
11170

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:11170

UCSC genome browser

More...
UCSCi
uc003dko.5 human [O95990-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF089854 mRNA Translation: AAD16094.1
AF089853 mRNA Translation: AAD16093.1
AB023810 Genomic DNA Translation: BAA83072.1
AB023811 mRNA Translation: BAA82845.1
AL050264 mRNA Translation: CAB43366.1
AK054720 mRNA Translation: BAG51416.1
AK055443 mRNA Translation: BAB70924.1
AK316450 mRNA Translation: BAH14821.1
AC116036 Genomic DNA No translation available.
AC119424 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW65380.1
BC010561 mRNA Translation: AAH10561.1
CCDSiCCDS2892.1 [O95990-1]
CCDS63672.1 [O95990-3]
CCDS63673.1 [O95990-4]
PIRiT08666
RefSeqiNP_001070246.1, NM_001076778.2 [O95990-1]
NP_001269642.1, NM_001282713.1 [O95990-3]
NP_001269643.1, NM_001282714.1 [O95990-4]
NP_009108.1, NM_007177.3 [O95990-1]
UniGeneiHs.506357
Hs.729396

3D structure databases

ProteinModelPortaliO95990
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116341, 52 interactors
IntActiO95990, 31 interactors
STRINGi9606.ENSP00000354270

Polymorphism and mutation databases

BioMutaiFAM107A

Proteomic databases

PaxDbiO95990
PeptideAtlasiO95990
PRIDEiO95990
ProteomicsDBi51166
51167 [O95990-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
11170
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360997; ENSP00000354270; ENSG00000168309 [O95990-1]
ENST00000394481; ENSP00000377991; ENSG00000168309 [O95990-1]
ENST00000447756; ENSP00000400858; ENSG00000168309 [O95990-3]
ENST00000464064; ENSP00000419529; ENSG00000168309 [O95990-2]
ENST00000474531; ENSP00000419124; ENSG00000168309 [O95990-4]
ENST00000649301; ENSP00000497152; ENSG00000168309 [O95990-1]
GeneIDi11170
KEGGihsa:11170
UCSCiuc003dko.5 human [O95990-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
11170
DisGeNETi11170
EuPathDBiHostDB:ENSG00000168309.16

GeneCards: human genes, protein and diseases

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GeneCardsi
FAM107A
HGNCiHGNC:30827 FAM107A
HPAiHPA055888
MIMi608295 gene
neXtProtiNX_O95990
OpenTargetsiENSG00000168309
PharmGKBiPA143485464

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IX5W Eukaryota
ENOG4111Z4D LUCA
GeneTreeiENSGT00390000011228
HOGENOMiHOG000048230
HOVERGENiHBG002824
InParanoidiO95990
OMAiMNHRRGI
PhylomeDBiO95990
TreeFamiTF325943

Enzyme and pathway databases

SIGNORiO95990

Miscellaneous databases

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

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ChiTaRSi
FAM107A human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
FAM107A

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

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GenomeRNAii
11170

Protein Ontology

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PROi
PR:O95990

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000168309 Expressed in 223 organ(s), highest expression level in entorhinal cortex
CleanExiHS_FAM107A
ExpressionAtlasiO95990 baseline and differential
GenevisibleiO95990 HS

Family and domain databases

InterProiView protein in InterPro
IPR009533 FAM107
PANTHERiPTHR16768 PTHR16768, 1 hit
PfamiView protein in Pfam
PF06625 DUF1151, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiF107A_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: O95990
Secondary accession number(s): B3KNQ4
, B7ZAY5, J3KR61, Q96NH4
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: December 5, 2018
This is version 138 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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