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Protein

Cotranscriptional regulator FAM172A

Gene

Fam172a

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a role in the regulation of alternative splicing, by interacting with AGO2 and CHD7. Seems to be required for stabilizing protein-protein interactions at the chromatin-spliceosome interface (PubMed:29311329). May have hydrolase activity (PubMed:29311329).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei294Nucleophile1 Publication1

GO - Biological processi

  • chromatin silencing by small RNA Source: GO_Central
  • mRNA processing Source: UniProtKB-KW
  • neural crest cell development Source: UniProtKB
  • regulation of alternative mRNA splicing, via spliceosome Source: UniProtKB
  • RNA splicing Source: UniProtKB-KW

Keywordsi

Biological processmRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended name:
Cotranscriptional regulator FAM172ACurated
Gene namesi
Name:Fam172aImported
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 13

Organism-specific databases

MGIiMGI:1915925 Fam172a

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Nucleus

Pathology & Biotechi

Disruption phenotypei

Homozygotes deficient mice die before postnatal day 25. Mice display retinal coloboma, cleft palate, and hypoplastic semicircular canals, retarded growth, genital anomalies and malformation of the heart and cranial nerves. Mice display a complex phenotype mimicking both the major and minor features of CHARGE syndrome (CHARGES).1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi229E → Q: Fails to interacts with AGO2. Decreases nuclear localization. 1 Publication1
Mutagenesisi294S → A: Loss of nucleophilicity of Ser-294. 1 Publication1
Mutagenesisi307 – 417Missing : Fails to interact with AGO2. 1 PublicationAdd BLAST111

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000032093219 – 417Cotranscriptional regulator FAM172AAdd BLAST399

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi26N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ3TNH5
MaxQBiQ3TNH5
PaxDbiQ3TNH5
PeptideAtlasiQ3TNH5
PRIDEiQ3TNH5

PTM databases

iPTMnetiQ3TNH5
PhosphoSitePlusiQ3TNH5

Expressioni

Developmental stagei

Widely expressed during development.1 Publication

Gene expression databases

BgeeiENSMUSG00000064138 Expressed in 238 organ(s), highest expression level in embryo
CleanExiMM_1110033M05RIK
ExpressionAtlasiQ3TNH5 baseline and differential
GenevisibleiQ3TNH5 MM

Interactioni

Subunit structurei

Interacts with AGO2 (PubMed:29311329). Found in a complex, composed of AGO2, CHD7 and FAM172A (PubMed:29311329).1 Publication

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000133140

Structurei

3D structure databases

ProteinModelPortaliQ3TNH5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi414 – 417Prevents secretion from ERPROSITE-ProRule annotation4

Sequence similaritiesi

Belongs to the FAM172 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3967 Eukaryota
ENOG410ZNS0 LUCA
GeneTreeiENSGT00530000063907
HOGENOMiHOG000046503
HOVERGENiHBG107877
InParanoidiQ3TNH5
OrthoDBiEOG091G08MK
PhylomeDBiQ3TNH5
TreeFamiTF315960

Family and domain databases

InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR039929 FAM172A
PANTHERiPTHR21357:SF3 PTHR21357:SF3, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
PROSITEiView protein in PROSITE
PS00014 ER_TARGET, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q3TNH5-1) [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
MSISLSSLIF LPIWINMAQM QQGGSNETEQ TAALKDLLSR IDLDELMKKD
60 70 80 90 100
EPPFDFPDTL EGFEYAFNEK GQLRHIKTGE PFVFNYREDL HRWNQKRYEA
110 120 130 140 150
LGEIITRYVY ELLESDCNLK KISIPVDATE SEPKSFIFMS EDALTNPQKL
160 170 180 190 200
MVLIHGSGVV RAGQWARRLI INEDLDSGTQ IPFIKRAMDE GYGVIVLNPN
210 220 230 240 250
ENYIEVEKQK MHKQSSSSDG TDEPAGKRER RDKVSKETKK RRDFYEKYRN
260 270 280 290 300
PQKEKEMMQL FIRENGSPEE HAVYVWDHFI AQAAAENVFF VAHSYGGLAF
310 320 330 340 350
VELMIQREAD VKSKVTAVAL TDSVHNVWHQ EAGKTIREWM RENCCNWVSS
360 370 380 390 400
SEPLDTSVES MLPDCPRVSA GTDRHELTSW KSFPSIFKFF AEASEAKSSS
410
QKPALTRRSH RIKHEEL
Length:417
Mass (Da):48,072
Last modified:February 26, 2008 - v2
Checksum:i8FBE7D0873DA8109
GO
Isoform 2 (identifier: Q3TNH5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-138: Missing.

Note: No experimental confirmation available.
Show »
Length:279
Mass (Da):31,975
Checksum:i0AB4FE1707A3D22B
GO
Isoform 3 (identifier: Q3TNH5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.
     126-189: Missing.

Note: No experimental confirmation available.
Show »
Length:307
Mass (Da):35,840
Checksum:i605B0CD185BBD4B9
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9QMA2E9QMA2_MOUSE
Cotranscriptional regulator FAM172A
Fam172a
371Annotation score:
A0A286YD37A0A286YD37_MOUSE
Cotranscriptional regulator FAM172A
Fam172a
181Annotation score:
A0A286YE18A0A286YE18_MOUSE
Cotranscriptional regulator FAM172A
Fam172a
62Annotation score:
A0A286YCN2A0A286YCN2_MOUSE
Cotranscriptional regulator FAM172A
Fam172a
141Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0317501 – 138Missing in isoform 2. 1 PublicationAdd BLAST138
Alternative sequenceiVSP_0317511 – 46Missing in isoform 3. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_031752126 – 189Missing in isoform 3. 1 PublicationAdd BLAST64

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK165273 mRNA Translation: BAE38114.1
AK166285 mRNA Translation: BAE38682.1
AC167171 Genomic DNA No translation available.
AC154584 Genomic DNA No translation available.
AC154548 Genomic DNA No translation available.
CT025642 Genomic DNA No translation available.
CCDSiCCDS49317.1 [Q3TNH5-1]
CCDS49319.1 [Q3TNH5-3]
RefSeqiNP_001156892.1, NM_001163420.1 [Q3TNH5-3]
NP_612185.1, NM_138312.1 [Q3TNH5-1]
UniGeneiMm.343005

Genome annotation databases

EnsembliENSMUST00000099358; ENSMUSP00000096960; ENSMUSG00000064138 [Q3TNH5-3]
ENSMUST00000163257; ENSMUSP00000133140; ENSMUSG00000064138 [Q3TNH5-1]
GeneIDi68675
KEGGimmu:68675
UCSCiuc007rgy.2 mouse [Q3TNH5-1]
uc007rha.2 mouse [Q3TNH5-3]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK165273 mRNA Translation: BAE38114.1
AK166285 mRNA Translation: BAE38682.1
AC167171 Genomic DNA No translation available.
AC154584 Genomic DNA No translation available.
AC154548 Genomic DNA No translation available.
CT025642 Genomic DNA No translation available.
CCDSiCCDS49317.1 [Q3TNH5-1]
CCDS49319.1 [Q3TNH5-3]
RefSeqiNP_001156892.1, NM_001163420.1 [Q3TNH5-3]
NP_612185.1, NM_138312.1 [Q3TNH5-1]
UniGeneiMm.343005

3D structure databases

ProteinModelPortaliQ3TNH5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000133140

PTM databases

iPTMnetiQ3TNH5
PhosphoSitePlusiQ3TNH5

Proteomic databases

EPDiQ3TNH5
MaxQBiQ3TNH5
PaxDbiQ3TNH5
PeptideAtlasiQ3TNH5
PRIDEiQ3TNH5

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000099358; ENSMUSP00000096960; ENSMUSG00000064138 [Q3TNH5-3]
ENSMUST00000163257; ENSMUSP00000133140; ENSMUSG00000064138 [Q3TNH5-1]
GeneIDi68675
KEGGimmu:68675
UCSCiuc007rgy.2 mouse [Q3TNH5-1]
uc007rha.2 mouse [Q3TNH5-3]

Organism-specific databases

CTDi83989
MGIiMGI:1915925 Fam172a

Phylogenomic databases

eggNOGiKOG3967 Eukaryota
ENOG410ZNS0 LUCA
GeneTreeiENSGT00530000063907
HOGENOMiHOG000046503
HOVERGENiHBG107877
InParanoidiQ3TNH5
OrthoDBiEOG091G08MK
PhylomeDBiQ3TNH5
TreeFamiTF315960

Miscellaneous databases

ChiTaRSiFam172a mouse
PROiPR:Q3TNH5
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000064138 Expressed in 238 organ(s), highest expression level in embryo
CleanExiMM_1110033M05RIK
ExpressionAtlasiQ3TNH5 baseline and differential
GenevisibleiQ3TNH5 MM

Family and domain databases

InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR039929 FAM172A
PANTHERiPTHR21357:SF3 PTHR21357:SF3, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
PROSITEiView protein in PROSITE
PS00014 ER_TARGET, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiF172A_MOUSE
AccessioniPrimary (citable) accession number: Q3TNH5
Secondary accession number(s): Q3TLW0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: November 7, 2018
This is version 98 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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