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Protein

Actin-associated protein FAM107A

Gene

FAM107A

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

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

SIGNORiO95990

Names & Taxonomyi

Protein namesi
Recommended name:
Actin-associated protein FAM107ACurated
Alternative name(s):
Down-regulated in renal cell carcinoma 11 Publication
Protein TU3A1 Publication
Gene namesi
Name:FAM107AImported
Synonyms:DRR11 Publication, TU3A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000168309.16
HGNCiHGNC:30827 FAM107A
MIMi608295 gene
neXtProtiNX_O95990

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

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi11170
OpenTargetsiENSG00000168309
PharmGKBiPA143485464

Polymorphism and mutation databases

BioMutaiFAM107A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000800141 – 144Actin-associated protein FAM107AAdd BLAST144

Proteomic databases

PaxDbiO95990
PeptideAtlasiO95990
PRIDEiO95990
ProteomicsDBi51166
51167 [O95990-2]

Expressioni

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

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

Organism-specific databases

HPAiHPA055888

Interactioni

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116341, 52 interactors
IntActiO95990, 31 interactors
STRINGi9606.ENSP00000354270

Structurei

3D structure databases

ProteinModelPortaliO95990
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili66 – 112Sequence analysisAdd BLAST47

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi74 – 84Nuclear localization signal1 PublicationAdd BLAST11

Sequence similaritiesi

Belongs to the FAM107 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IX5W Eukaryota
ENOG4111Z4D LUCA
GeneTreeiENSGT00390000011228
HOGENOMiHOG000048230
HOVERGENiHBG002824
InParanoidiO95990
OMAiMNHRRGI
PhylomeDBiO95990
TreeFamiTF325943

Family and domain databases

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

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.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
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

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:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 4 (identifier: O95990-4)
Sequence conflicti26R → Q in BAG51416 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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

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]
GeneIDi11170
KEGGihsa:11170
UCSCiuc003dko.5 human [O95990-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

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

DNASUi11170
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]
GeneIDi11170
KEGGihsa:11170
UCSCiuc003dko.5 human [O95990-1]

Organism-specific databases

CTDi11170
DisGeNETi11170
EuPathDBiHostDB:ENSG00000168309.16
GeneCardsiFAM107A
HGNCiHGNC:30827 FAM107A
HPAiHPA055888
MIMi608295 gene
neXtProtiNX_O95990
OpenTargetsiENSG00000168309
PharmGKBiPA143485464
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IX5W Eukaryota
ENOG4111Z4D LUCA
GeneTreeiENSGT00390000011228
HOGENOMiHOG000048230
HOVERGENiHBG002824
InParanoidiO95990
OMAiMNHRRGI
PhylomeDBiO95990
TreeFamiTF325943

Enzyme and pathway databases

SIGNORiO95990

Miscellaneous databases

ChiTaRSiFAM107A human
GeneWikiiFAM107A
GenomeRNAii11170
PROiPR:O95990
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiF107A_HUMAN
AccessioniPrimary (citable) accession number: O95990
Secondary accession number(s): B3KNQ4
, B7ZAY5, J3KR61, Q96NH4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: May 1, 1999
Last modified: November 7, 2018
This is version 137 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

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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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