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Protein

Cotranscriptional regulator FAM172A

Gene

FAM172A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript 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. May have hydrolase activity.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei293NucleophileBy similarity1

GO - Biological processi

Keywordsi

Biological processmRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended name:
Cotranscriptional regulator FAM172ABy similarity
Alternative name(s):
Protein FAM172A
Gene namesi
Name:FAM172A
Synonyms:C5orf21
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000113391.16
HGNCiHGNC:25365 FAM172A
neXtProtiNX_Q8WUF8

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

Organism-specific databases

DisGeNETi83989
OpenTargetsiENSG00000113391
PharmGKBiPA162387241

Polymorphism and mutation databases

BioMutaiFAM172A
DMDMi74730707

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000032093119 – 416Cotranscriptional regulator FAM172AAdd BLAST398

Proteomic databases

EPDiQ8WUF8
MaxQBiQ8WUF8
PaxDbiQ8WUF8
PeptideAtlasiQ8WUF8
PRIDEiQ8WUF8
ProteomicsDBi74667
74668 [Q8WUF8-2]
74669 [Q8WUF8-3]
74670 [Q8WUF8-4]

PTM databases

iPTMnetiQ8WUF8
PhosphoSitePlusiQ8WUF8

Expressioni

Gene expression databases

BgeeiENSG00000113391 Expressed in 224 organ(s), highest expression level in neocortex
CleanExiHS_FAM172A
ExpressionAtlasiQ8WUF8 baseline and differential
GenevisibleiQ8WUF8 HS

Organism-specific databases

HPAiHPA012299
HPA045505

Interactioni

Subunit structurei

Interacts with AGO2. Found in a complex, composed of AGO2, CHD7 and FAM172A.By similarity

Protein-protein interaction databases

BioGridi123840, 12 interactors
IntActiQ8WUF8, 3 interactors
STRINGi9606.ENSP00000379294

Structurei

3D structure databases

ProteinModelPortaliQ8WUF8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi413 – 416Prevents 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
InParanoidiQ8WUF8
OMAiNTNDNYR
OrthoDBiEOG091G08MK
PhylomeDBiQ8WUF8
TreeFamiTF315960

Family and domain databases

InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR019154 Arb2_domain
IPR039929 FAM172A
PANTHERiPTHR21357:SF3 PTHR21357:SF3, 1 hit
PfamiView protein in Pfam
PF09757 Arb2, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
PROSITEiView protein in PROSITE
PS00014 ER_TARGET, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WUF8-1) [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
MSISLSSLIL LPIWINMAQI QQGGPDEKEK TTALKDLLSR IDLDELMKKD
60 70 80 90 100
EPPLDFPDTL EGFEYAFNEK GQLRHIKTGE PFVFNYREDL HRWNQKRYEA
110 120 130 140 150
LGEIITKYVY ELLEKDCNLK KVSIPVDATE SEPKSFIFMS EDALTNPQKL
160 170 180 190 200
MVLIHGSGVV RAGQWARRLI INEDLDSGTQ IPFIKRAVAE GYGVIVLNPN
210 220 230 240 250
ENYIEVEKPK IHVQSSSDSS DEPAEKRERK DKVSKETKKR RDFYEKYRNP
260 270 280 290 300
QREKEMMQLY IRENGSPEEH AIYVWDHFIA QAAAENVFFV AHSYGGLAFV
310 320 330 340 350
ELMIQREADV KNKVTAVALT DSVHNVWHQE AGKTIREWMR ENCCNWVSSS
360 370 380 390 400
EPLDTSVESM LPDCPRVSAG TDRHELTSWK SFPSIFKFFT EASEAKTSSL
410
KPAVTRRSHR IKHEEL
Length:416
Mass (Da):47,972
Last modified:March 1, 2002 - v1
Checksum:i37D05325D12FE7ED
GO
Isoform 2 (identifier: Q8WUF8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     263-416: ENGSPEEHAI...RSHRIKHEEL → VSEITTFLYYFLYLVYILLYVDCFVFLQEY

Note: No experimental confirmation available.
Show »
Length:292
Mass (Da):34,290
Checksum:i4EE1DB236A41AA54
GO
Isoform 3 (identifier: Q8WUF8-3) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:370
Mass (Da):42,851
Checksum:i7D958B1DC1AFE20C
GO
Isoform 4 (identifier: Q8WUF8-4) [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:306
Mass (Da):35,800
Checksum:i085812F213DC7C45
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DMI0B4DMI0_HUMAN
Protein FAM172A
FAM172A
269Annotation score:
E9PBM2E9PBM2_HUMAN
Cotranscriptional regulator FAM172A
FAM172A
305Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti236E → V in CAB66565 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039312131S → N. Corresponds to variant dbSNP:rs17083426Ensembl.1
Natural variantiVAR_080593228E → Q Found in patients with CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767629211Ensembl.1
Natural variantiVAR_080594307 – 416Missing Found in a patient with CHARGES; unknown pathological significance. 1 PublicationAdd BLAST110

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0433131 – 46Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_043314126 – 189Missing in isoform 4. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_031749263 – 416ENGSP…KHEEL → VSEITTFLYYFLYLVYILLY VDCFVFLQEY in isoform 2. 1 PublicationAdd BLAST154

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136630 mRNA Translation: CAB66565.1
AK295879 mRNA Translation: BAG58676.1
AK296986 mRNA Translation: BAG59527.1
AK312930 mRNA Translation: BAG35773.1
AC093268 Genomic DNA No translation available.
AC099501 Genomic DNA No translation available.
AC106818 Genomic DNA No translation available.
AC108102 Genomic DNA No translation available.
AC114980 Genomic DNA No translation available.
AC117528 Genomic DNA No translation available.
CH471084 Genomic DNA Translation: EAW96012.1
BC020584 mRNA Translation: AAH20584.1
CCDSiCCDS4069.1 [Q8WUF8-1]
CCDS54879.1 [Q8WUF8-4]
CCDS54880.1 [Q8WUF8-3]
RefSeqiNP_001156889.1, NM_001163417.1 [Q8WUF8-3]
NP_001156890.1, NM_001163418.1 [Q8WUF8-4]
NP_114431.2, NM_032042.5 [Q8WUF8-1]
XP_006714780.1, XM_006714717.3 [Q8WUF8-1]
XP_011541974.1, XM_011543672.2 [Q8WUF8-3]
XP_016865444.1, XM_017009955.1 [Q8WUF8-3]
XP_016865445.1, XM_017009956.1 [Q8WUF8-3]
UniGeneiHs.600086

Genome annotation databases

EnsembliENST00000395965; ENSP00000379294; ENSG00000113391 [Q8WUF8-1]
ENST00000505869; ENSP00000426284; ENSG00000113391 [Q8WUF8-4]
ENST00000509163; ENSP00000423841; ENSG00000113391 [Q8WUF8-3]
GeneIDi83989
KEGGihsa:83989
UCSCiuc010jbd.4 human [Q8WUF8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136630 mRNA Translation: CAB66565.1
AK295879 mRNA Translation: BAG58676.1
AK296986 mRNA Translation: BAG59527.1
AK312930 mRNA Translation: BAG35773.1
AC093268 Genomic DNA No translation available.
AC099501 Genomic DNA No translation available.
AC106818 Genomic DNA No translation available.
AC108102 Genomic DNA No translation available.
AC114980 Genomic DNA No translation available.
AC117528 Genomic DNA No translation available.
CH471084 Genomic DNA Translation: EAW96012.1
BC020584 mRNA Translation: AAH20584.1
CCDSiCCDS4069.1 [Q8WUF8-1]
CCDS54879.1 [Q8WUF8-4]
CCDS54880.1 [Q8WUF8-3]
RefSeqiNP_001156889.1, NM_001163417.1 [Q8WUF8-3]
NP_001156890.1, NM_001163418.1 [Q8WUF8-4]
NP_114431.2, NM_032042.5 [Q8WUF8-1]
XP_006714780.1, XM_006714717.3 [Q8WUF8-1]
XP_011541974.1, XM_011543672.2 [Q8WUF8-3]
XP_016865444.1, XM_017009955.1 [Q8WUF8-3]
XP_016865445.1, XM_017009956.1 [Q8WUF8-3]
UniGeneiHs.600086

3D structure databases

ProteinModelPortaliQ8WUF8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123840, 12 interactors
IntActiQ8WUF8, 3 interactors
STRINGi9606.ENSP00000379294

PTM databases

iPTMnetiQ8WUF8
PhosphoSitePlusiQ8WUF8

Polymorphism and mutation databases

BioMutaiFAM172A
DMDMi74730707

Proteomic databases

EPDiQ8WUF8
MaxQBiQ8WUF8
PaxDbiQ8WUF8
PeptideAtlasiQ8WUF8
PRIDEiQ8WUF8
ProteomicsDBi74667
74668 [Q8WUF8-2]
74669 [Q8WUF8-3]
74670 [Q8WUF8-4]

Protocols and materials databases

DNASUi83989
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000395965; ENSP00000379294; ENSG00000113391 [Q8WUF8-1]
ENST00000505869; ENSP00000426284; ENSG00000113391 [Q8WUF8-4]
ENST00000509163; ENSP00000423841; ENSG00000113391 [Q8WUF8-3]
GeneIDi83989
KEGGihsa:83989
UCSCiuc010jbd.4 human [Q8WUF8-1]

Organism-specific databases

CTDi83989
DisGeNETi83989
EuPathDBiHostDB:ENSG00000113391.16
GeneCardsiFAM172A
HGNCiHGNC:25365 FAM172A
HPAiHPA012299
HPA045505
neXtProtiNX_Q8WUF8
OpenTargetsiENSG00000113391
PharmGKBiPA162387241
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3967 Eukaryota
ENOG410ZNS0 LUCA
GeneTreeiENSGT00530000063907
HOGENOMiHOG000046503
HOVERGENiHBG107877
InParanoidiQ8WUF8
OMAiNTNDNYR
OrthoDBiEOG091G08MK
PhylomeDBiQ8WUF8
TreeFamiTF315960

Miscellaneous databases

ChiTaRSiFAM172A human
GeneWikiiC5orf21
GenomeRNAii83989
PROiPR:Q8WUF8

Gene expression databases

BgeeiENSG00000113391 Expressed in 224 organ(s), highest expression level in neocortex
CleanExiHS_FAM172A
ExpressionAtlasiQ8WUF8 baseline and differential
GenevisibleiQ8WUF8 HS

Family and domain databases

InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR019154 Arb2_domain
IPR039929 FAM172A
PANTHERiPTHR21357:SF3 PTHR21357:SF3, 1 hit
PfamiView protein in Pfam
PF09757 Arb2, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
PROSITEiView protein in PROSITE
PS00014 ER_TARGET, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiF172A_HUMAN
AccessioniPrimary (citable) accession number: Q8WUF8
Secondary accession number(s): B2R7C6
, B4DJ14, B4DLG5, Q9H0U8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: March 1, 2002
Last modified: November 7, 2018
This is version 128 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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