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Protein

Sesquipedalian-1

Gene

FAM109A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • endosome organization Source: UniProtKB
  • receptor recycling Source: UniProtKB
  • retrograde transport, endosome to Golgi Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-31239-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Sesquipedalian-1
Short name:
Ses1
Alternative name(s):
27 kDa inositol polyphosphate phosphatase-interacting protein A
Short name:
IPIP27A
Gene namesi
Name:FAM109A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:26509. FAM109A.

Subcellular locationi

GO - Cellular componenti

  • clathrin-coated vesicle Source: UniProtKB
  • cytosol Source: GOC
  • early endosome Source: UniProtKB
  • recycling endosome Source: UniProtKB
  • trans-Golgi network Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Endosome, Golgi apparatus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi224F → A: Loss of OCRL-binding. Drastically reduces membrane targeting. 2 Publications1
Mutagenesisi228H → A: Loss of OCRL-binding. 2 Publications1
Mutagenesisi234 – 235EI → AA: Loss of OCRL-binding. 1 Publication2

Organism-specific databases

DisGeNETi144717.
OpenTargetsiENSG00000198324.
PharmGKBiPA143485466.

Polymorphism and mutation databases

BioMutaiFAM109A.
DMDMi74728832.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002545721 – 249Sesquipedalian-1Add BLAST249

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei213PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N4B1.
MaxQBiQ8N4B1.
PaxDbiQ8N4B1.
PeptideAtlasiQ8N4B1.
PRIDEiQ8N4B1.

PTM databases

iPTMnetiQ8N4B1.
PhosphoSitePlusiQ8N4B1.

Expressioni

Gene expression databases

BgeeiENSG00000198324.
CleanExiHS_FAM109A.
ExpressionAtlasiQ8N4B1. baseline and differential.
GenevisibleiQ8N4B1. HS.

Interactioni

Subunit structurei

Forms homodimers and heterodimers with FAM109B. Interacts with OCRL and INPP5B.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PLEKHJ1Q9NW613EBI-7310488,EBI-1057560

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi126873. 7 interactors.
IntActiQ8N4B1. 6 interactors.
MINTiMINT-6778621.
STRINGi9606.ENSP00000354461.

Structurei

Secondary structure

1249
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi224 – 231Combined sources8
Turni232 – 234Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3QISX-ray2.30B223-235[»]
ProteinModelPortaliQ8N4B1.
SMRiQ8N4B1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini17 – 113PHPROSITE-ProRule annotationAdd BLAST97

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi223 – 235F&HAdd BLAST13

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi139 – 223Pro-richAdd BLAST85

Domaini

The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.1 Publication

Sequence similaritiesi

Belongs to the sesquipedalian family.Curated
Contains 1 PH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IH44. Eukaryota.
ENOG4111J7G. LUCA.
GeneTreeiENSGT00440000034671.
HOVERGENiHBG061708.
InParanoidiQ8N4B1.
OMAiTRARTYV.
OrthoDBiEOG091G0IU5.
PhylomeDBiQ8N4B1.
TreeFamiTF326731.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N4B1-1) [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
MKLNERSLAF YATCDAPVDN AGFLYKKGGR HAAYHRRWFV LRGNMLFYFE
60 70 80 90 100
DAASREPVGV IILEGCTVEL VEAAEEFAFA VRFAGTRART YVLAAESQDA
110 120 130 140 150
MEGWVKALSR ASFDYLRLVV RELEQQLAAV RGGGGMALPQ PQPQSLPLPP
160 170 180 190 200
SLPSALAPVP SLPSAPAPVP ALPLPRRPSA LPPKENGCAV WSTEATFRPG
210 220 230 240
PEPPPPPPRR RASAPHGPLD MAPFARLHEC YGQEIRALRG QWLSSRVQP
Length:249
Mass (Da):27,215
Last modified:October 1, 2002 - v1
Checksum:i73410C946DA6113A
GO
Isoform 2 (identifier: Q8N4B1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-123: Missing.
     124-138: EQQLAAVRGGGGMAL → MQKQRPREMNSLPGV

Note: No experimental confirmation available.
Show »
Length:126
Mass (Da):13,610
Checksum:i8AAF24512D83EDF9
GO
Isoform 3 (identifier: Q8N4B1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     64-88: EGCTVELVEAAEEFAFAVRFAGTRA → VAVALWPRALSVSPWWLSQGSPDTP
     89-249: Missing.

Note: No experimental confirmation available.
Show »
Length:88
Mass (Da):9,957
Checksum:iA855A284B01643EF
GO
Isoform 4 (identifier: Q8N4B1-4) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:262
Mass (Da):28,364
Checksum:i5886034B521FFCA4
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0212391 – 123Missing in isoform 2. 1 PublicationAdd BLAST123
Alternative sequenceiVSP_0448361M → MAPGSPPGPAIATM in isoform 4. 1 Publication1
Alternative sequenceiVSP_02124164 – 88EGCTV…AGTRA → VAVALWPRALSVSPWWLSQG SPDTP in isoform 3. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_02124289 – 249Missing in isoform 3. 1 PublicationAdd BLAST161
Alternative sequenceiVSP_021240124 – 138EQQLA…GGMAL → MQKQRPREMNSLPGV in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056918 mRNA. Translation: BAB71310.1.
AC005805 Genomic DNA. No translation available.
BC014091 mRNA. Translation: AAH14091.1.
BC034809 mRNA. Translation: AAH34809.1.
CX758147 mRNA. No translation available.
CCDSiCCDS53833.1. [Q8N4B1-4]
CCDS9152.1. [Q8N4B1-1]
RefSeqiNP_001171467.1. NM_001177996.1. [Q8N4B1-4]
NP_001171468.1. NM_001177997.1. [Q8N4B1-1]
NP_653272.2. NM_144671.4. [Q8N4B1-1]
XP_006719320.1. XM_006719257.3. [Q8N4B1-1]
XP_011536278.1. XM_011537976.2. [Q8N4B1-1]
XP_016874372.1. XM_017018883.1. [Q8N4B1-1]
UniGeneiHs.173088.

Genome annotation databases

EnsembliENST00000361483; ENSP00000354461; ENSG00000198324. [Q8N4B1-4]
ENST00000547838; ENSP00000447353; ENSG00000198324. [Q8N4B1-1]
ENST00000548163; ENSP00000449994; ENSG00000198324. [Q8N4B1-1]
GeneIDi144717.
KEGGihsa:144717.
UCSCiuc021rdy.1. human. [Q8N4B1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056918 mRNA. Translation: BAB71310.1.
AC005805 Genomic DNA. No translation available.
BC014091 mRNA. Translation: AAH14091.1.
BC034809 mRNA. Translation: AAH34809.1.
CX758147 mRNA. No translation available.
CCDSiCCDS53833.1. [Q8N4B1-4]
CCDS9152.1. [Q8N4B1-1]
RefSeqiNP_001171467.1. NM_001177996.1. [Q8N4B1-4]
NP_001171468.1. NM_001177997.1. [Q8N4B1-1]
NP_653272.2. NM_144671.4. [Q8N4B1-1]
XP_006719320.1. XM_006719257.3. [Q8N4B1-1]
XP_011536278.1. XM_011537976.2. [Q8N4B1-1]
XP_016874372.1. XM_017018883.1. [Q8N4B1-1]
UniGeneiHs.173088.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3QISX-ray2.30B223-235[»]
ProteinModelPortaliQ8N4B1.
SMRiQ8N4B1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126873. 7 interactors.
IntActiQ8N4B1. 6 interactors.
MINTiMINT-6778621.
STRINGi9606.ENSP00000354461.

PTM databases

iPTMnetiQ8N4B1.
PhosphoSitePlusiQ8N4B1.

Polymorphism and mutation databases

BioMutaiFAM109A.
DMDMi74728832.

Proteomic databases

EPDiQ8N4B1.
MaxQBiQ8N4B1.
PaxDbiQ8N4B1.
PeptideAtlasiQ8N4B1.
PRIDEiQ8N4B1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361483; ENSP00000354461; ENSG00000198324. [Q8N4B1-4]
ENST00000547838; ENSP00000447353; ENSG00000198324. [Q8N4B1-1]
ENST00000548163; ENSP00000449994; ENSG00000198324. [Q8N4B1-1]
GeneIDi144717.
KEGGihsa:144717.
UCSCiuc021rdy.1. human. [Q8N4B1-1]

Organism-specific databases

CTDi144717.
DisGeNETi144717.
GeneCardsiFAM109A.
H-InvDBHIX0010998.
HGNCiHGNC:26509. FAM109A.
neXtProtiNX_Q8N4B1.
OpenTargetsiENSG00000198324.
PharmGKBiPA143485466.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH44. Eukaryota.
ENOG4111J7G. LUCA.
GeneTreeiENSGT00440000034671.
HOVERGENiHBG061708.
InParanoidiQ8N4B1.
OMAiTRARTYV.
OrthoDBiEOG091G0IU5.
PhylomeDBiQ8N4B1.
TreeFamiTF326731.

Enzyme and pathway databases

BioCyciZFISH:G66-31239-MONOMER.

Miscellaneous databases

GenomeRNAii144717.
PROiQ8N4B1.

Gene expression databases

BgeeiENSG00000198324.
CleanExiHS_FAM109A.
ExpressionAtlasiQ8N4B1. baseline and differential.
GenevisibleiQ8N4B1. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSESQ1_HUMAN
AccessioniPrimary (citable) accession number: Q8N4B1
Secondary accession number(s): J3KP50, Q6PJL9, Q96MH8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 1, 2002
Last modified: November 30, 2016
This is version 106 of the entry and version 1 of the sequence. [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

Miscellaneous

Was named after 'sesquipedalian', an unnecessarily long description of a simple thing.1 Publication

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.